Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

7 structures for P35348

Entry ID Method Resolution Chain Position Source
7YM8 EM 292 A PDB
7YMH EM 352 A PDB
7YMJ EM 335 A PDB
8HN1 EM 290 A A 1-371 PDB
8THK EM 260 A R 15-350 PDB
8THL EM 310 A R 15-350 PDB
AF-P35348-F1 Predicted AlphaFoldDB

467 variants for P35348

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1239344489
CA370942562
2 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4687314
rs372749147
5 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA370942537
rs1252741705
6 G>R No ClinGen
gnomAD
CA370942527
rs1439268438
7 N>S No ClinGen
TOPMed
rs1585870948
CA370942520
8 A>G No ClinGen
Ensembl
CA370942508
rs1272706820
10 D>E No ClinGen
gnomAD
rs751394079
CA4687312
10 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1010863998
CA370942512
10 D>H No ClinGen
TOPMed
gnomAD
CA174607429
rs1010863998
10 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1189407397
CA370942505
11 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA174607428
rs1052544656
12 S>F No ClinGen
TOPMed
rs779800024
CA4687311
13 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA370942489
rs1229448814
13 N>S No ClinGen
TOPMed
gnomAD
rs754001123
CA4687309
14 C>G No ClinGen
ExAC
TOPMed
gnomAD
CA4687310
rs754001123
14 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA370942479
rs1243355346
COSM184208
COSM184207
15 T>A large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA174607427
rs977548564
15 T>I No ClinGen
Ensembl
rs760692242
CA4687307
17 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs764320184
CA4687308
17 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA370942455
rs1359699553
19 A>S No ClinGen
gnomAD
CA4687302
rs771422009
20 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs774916687
CA4687303
20 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA370942413
rs1354852913
25 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA370942411
rs1400692981
26 A>P No ClinGen
TOPMed
rs1272137415
CA370942407
26 A>V No ClinGen
TOPMed
CA4687300
rs772748755
27 I>T No ClinGen
ExAC
gnomAD
rs1431288722
CA370942398
28 L>Q No ClinGen
gnomAD
CA370942375
rs1184664083
32 I>F No ClinGen
gnomAD
rs1184664083
CA370942377
32 I>V No ClinGen
gnomAD
rs1482185797
CA370942365
33 L>F No ClinGen
TOPMed
gnomAD
rs1232726760
CA370942360
34 G>A No ClinGen
gnomAD
rs752308205 35 G>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1453844304
CA370942354
35 G>D No ClinGen
gnomAD
rs1212873153
CA370942351
36 L>I No ClinGen
TOPMed
TCGA novel 36 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA370942340
rs1288288049
37 I>S No ClinGen
gnomAD
TCGA novel 38 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768627895
CA4687295
40 G>R No ClinGen
ExAC
gnomAD
VAR_035756 40 G>W a breast cancer sample; somatic mutation [UniProt] No UniProt
TCGA novel
CA370942314
rs1585870468
41 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
CA370942290
rs1329289376
45 I>T No ClinGen
gnomAD
rs779890003
CA4687292
47 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA370942282
rs1243477642
47 V>M No ClinGen
TOPMed
CA4687290
rs186663065
48 I>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs756330556
CA174607424
48 I>M No ClinGen
ExAC
gnomAD
CA4687289
rs61757011
48 I>N No ClinGen
ExAC
TOPMed
gnomAD
CA4687291
rs186663065
48 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4687287
rs752771643
49 L>P No ClinGen
ExAC
gnomAD
COSM1098627
COSM1098624
COSM1098625
CA4687286
rs767695098
COSM1098626
51 V>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4687285
rs376184998
52 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4687282
rs373498579
55 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764835112
CA4687280
59 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA4687278
rs754697137
63 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA174607422
rs768150925
65 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA4687276
rs768150925
65 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs746449370
CA4687275
67 N>S No ClinGen
ExAC
gnomAD
rs969571942
CA370942145
69 A>E No ClinGen
TOPMed
gnomAD
rs969571942
CA174607421
69 A>V No ClinGen
TOPMed
gnomAD
TCGA novel 70 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756351673
CA4687270
71 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA370942127
rs1455659706
72 D>E No ClinGen
TOPMed
gnomAD
rs748400751
CA4687269
72 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs748400751
CA370942132
72 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs781501725
CA4687268
73 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1177102605
CA370942123
73 L>H No ClinGen
gnomAD
rs781501725
CA370942124
73 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA370942122
rs1177102605
73 L>P No ClinGen
gnomAD
rs1245323372
CA370942111
75 L>H No ClinGen
gnomAD
rs758905419
CA4687264
76 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs758905419
CA174607419
76 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs1394977476
COSM486342
COSM486345
COSM486343
COSM486344
CA370942107
76 T>S kidney [Cosmic] No ClinGen
cosmic curated
TOPMed
CA370942099
rs1450642808
78 T>A No ClinGen
gnomAD
COSM1456331
COSM1456329
COSM1456330
CA370942094
rs1250383956
COSM1456332
78 T>M large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1250383956
CA370942095
78 T>R No ClinGen
TOPMed
gnomAD
TCGA novel 82 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA370942061
rs765619798
84 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA4687262
rs765619798
84 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1211865288
CA370942042
87 E>K No ClinGen
TOPMed
gnomAD
CA370942041
rs1211865288
87 E>Q No ClinGen
TOPMed
gnomAD
rs1442823078
CA370942032
88 V>F No ClinGen
TOPMed
CA370942019
rs1310063298
90 G>V No ClinGen
gnomAD
TCGA novel 91 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA370942005
rs1301029687
92 W>* No ClinGen
TOPMed
CA370941993
rs1279432417
94 F>L No ClinGen
gnomAD
TCGA novel 94 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1490073463
CA370941986
95 G>S No ClinGen
TOPMed
gnomAD
TCGA novel 96 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4687259
rs763678602
97 V>A No ClinGen
ExAC
gnomAD
rs776269898
CA174607418
97 V>F No ClinGen
ExAC
gnomAD
rs763678602
CA370941972
97 V>G No ClinGen
ExAC
gnomAD
rs776269898
CA4687260
97 V>I No ClinGen
ExAC
gnomAD
rs760210202
CA4687258
100 N>K No ClinGen
ExAC
gnomAD
CA370941947
rs1585869659
101 I>L No ClinGen
Ensembl
rs774951943
CA4687257
101 I>T No ClinGen
ExAC
gnomAD
rs1212095943
CA370941927
103 A>E No ClinGen
TOPMed
gnomAD
COSM3834486
CA4687256
COSM3834489
COSM3834491
COSM3834487
rs772047975
COSM3834488
104 A>S breast [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1430747545
CA370941907
107 V>M No ClinGen
gnomAD
COSM184204
CA370941888
rs1167310025
COSM184203
110 C>R Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA370941870
rs1428420974
112 A>E No ClinGen
gnomAD
CA174607416
rs888236558
112 A>T No ClinGen
Ensembl
CA4687253
rs370082307
113 S>C No ClinGen
ESP
ExAC
gnomAD
CA370941865
rs370082307
113 S>F No ClinGen
ESP
ExAC
gnomAD
CA370941868
rs1183094263
113 S>P No ClinGen
gnomAD
CA370941862
rs1256300248
114 I>F No ClinGen
TOPMed
gnomAD
CA4687252
rs748982353
114 I>T No ClinGen
ExAC
gnomAD
rs1256300248
CA370941863
114 I>V No ClinGen
TOPMed
gnomAD
CA370941857
rs1048084241
115 M>L No ClinGen
gnomAD
CA174607415
rs1048084241
115 M>V No ClinGen
gnomAD
CA370941836
rs1272181275
118 C>G No ClinGen
gnomAD
TCGA novel 118 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1420086628
CA370941829
119 I>V No ClinGen
TOPMed
rs1226673014
CA370941816
121 S>T No ClinGen
gnomAD
rs755206633
CA4687250
122 I>T No ClinGen
ExAC
gnomAD
CA4687251
rs781583369
122 I>V No ClinGen
ExAC
gnomAD
TCGA novel 123 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs61757010
CA174607412
123 D>Y No ClinGen
TOPMed
gnomAD
rs747122943
CA4687249
124 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs747122943
CA370941798
124 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs747122943
CA174607411
124 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs780256497
CA4687248
125 Y>C No ClinGen
ExAC
gnomAD
CA370941785
rs1372847806
126 I>L No ClinGen
gnomAD
CA4687246
rs375074012
126 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4687247
rs202189077
126 I>N No ClinGen
ExAC
TOPMed
gnomAD
rs1166314604
CA370941778
127 G>A No ClinGen
gnomAD
rs1350911177
CA370941782
127 G>S No ClinGen
gnomAD
CA370941774
rs1416479497
128 V>E No ClinGen
gnomAD
COSM93864
CA174607410
rs938487720
128 V>M Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA4687243
rs754163272
129 S>I No ClinGen
ExAC
gnomAD
rs1249430407
CA370941766
129 S>R No ClinGen
TOPMed
gnomAD
CA370941751
rs1281091213
131 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1281091213
CA370941753
131 P>Q No ClinGen
TOPMed
gnomAD
CA370941744
COSM1098602
COSM1098601
rs968763557
COSM1098599
COSM1098600
133 R>C Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs752263648
CA4687240
133 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs752263648
CA4687241
133 R>L No ClinGen
ExAC
gnomAD
CA370941743
rs752263648
133 R>P No ClinGen
ExAC
gnomAD
rs968763557
CA174607409
133 R>S No ClinGen
TOPMed
gnomAD
rs1223908061
CA370941741
134 Y>H No ClinGen
gnomAD
CA174607408
rs914665795
135 P>L No ClinGen
TOPMed
gnomAD
rs1292727649
CA370941729
136 T>P No ClinGen
gnomAD
rs1563321365
CA370941717
137 I>M No ClinGen
Ensembl
rs1229307094
CA370941719
137 I>T No ClinGen
TOPMed
gnomAD
CA4687239
rs140950299
138 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA370941695
rs1295839175
141 R>K No ClinGen
gnomAD
CA4687234
rs762868796
143 G>V No ClinGen
ExAC
gnomAD
CA4687233
rs371827279
145 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs560257931
CA4687232
146 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA4687230
rs780346708
148 L>P No ClinGen
ExAC
gnomAD
rs772196043
CA4687229
149 C>* No ClinGen
ExAC
gnomAD
rs745878118
CA4687228
152 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs61757009
RCV000958609
CA4687227
154 S>A No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs890568698
CA174607407
154 S>F No ClinGen
TOPMed
gnomAD
rs61757009
CA370941616
154 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4687225
rs754251205
155 L>R No ClinGen
ExAC
gnomAD
CA4687224
rs555670585
158 S>A No ClinGen
1000Genomes
ExAC
gnomAD
CA4687223
rs755834390
159 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs900391637
CA174607405
160 G>* No ClinGen
TOPMed
rs1037610094
CA174607404
160 G>A No ClinGen
TOPMed
gnomAD
CA370941582
rs1037610094
160 G>E No ClinGen
TOPMed
gnomAD
TCGA novel 160 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200323122
CA370941577
161 P>H No ClinGen
ExAC
gnomAD
CA4687221
rs200323122
161 P>L No ClinGen
ExAC
gnomAD
rs752353466
CA4687222
161 P>S No ClinGen
ExAC
gnomAD
CA4687217
rs762958890
CA370941567
163 F>L No ClinGen
ExAC
gnomAD
CA4687219
rs766377205
163 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA4687218
rs766377205
163 F>V No ClinGen
ExAC
TOPMed
gnomAD
rs773197131
CA4687216
164 G>R No ClinGen
ExAC
gnomAD
CA174607403
rs997765683
165 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA370941552
rs1314932778
166 R>G No ClinGen
Ensembl
CA4687215
rs56233953
166 R>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4687213
rs759868914
168 P>L No ClinGen
ExAC
gnomAD
rs772136338
CA4687212
169 A>V No ClinGen
ExAC
gnomAD
rs1448774990
CA370941529
170 P>T No ClinGen
gnomAD
rs778837172
CA4687210
171 E>* No ClinGen
ExAC
gnomAD
rs1204831166
CA370941520
171 E>G No ClinGen
gnomAD
rs1250025758
CA370941515
172 D>N No ClinGen
TOPMed
CA4687209
rs771487761
173 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs756487113
CA4687206
175 I>M No ClinGen
ExAC
gnomAD
rs1347816678
CA370941491
175 I>N No ClinGen
TOPMed
gnomAD
rs376531409
CA4687205
179 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780932474
CA370941458
180 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs754551028
CA4687203
180 E>G No ClinGen
ExAC
gnomAD
CA4687204
rs780932474
180 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs551511934
CA174607401
182 P>S No ClinGen
Ensembl
rs1403821912
CA370941436
183 G>D No ClinGen
gnomAD
rs1371091444
CA370941440
183 G>S No ClinGen
TOPMed
CA370941428
rs1310861678
184 Y>* No ClinGen
gnomAD
rs1432527989
CA370941425
185 V>L No ClinGen
Ensembl
rs1205168061
CA370941413
187 F>L No ClinGen
gnomAD
CA4687200
rs371939148
189 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 189 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4687199
rs750389026
190 L>P No ClinGen
ExAC
gnomAD
rs556158813
CA4687197
191 G>A No ClinGen
1000Genomes
ExAC
gnomAD
rs556158813
CA4687198
191 G>D No ClinGen
1000Genomes
ExAC
gnomAD
rs776249765
CA4687196
192 S>P No ClinGen
ExAC
gnomAD
rs1192561072
CA370941384
192 S>Y No ClinGen
gnomAD
TCGA novel 193 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4687195
rs767829617
194 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs759665734
CA4687194
194 Y>S No ClinGen
ExAC
gnomAD
CA370941343
rs1377263749
199 I>N No ClinGen
TOPMed
CA370941345
rs1275734523
199 I>V No ClinGen
gnomAD
VAR_049370
CA4687192
rs2229125
200 I>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA4687191
rs61757008
201 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1244862946
CA370941325
202 V>A No ClinGen
gnomAD
rs770251050
CA4687189
203 M>L No ClinGen
ExAC
gnomAD
rs1291020451
CA370941319
203 M>R No ClinGen
gnomAD
rs1293034019
CA370941314
204 Y>H No ClinGen
TOPMed
CA370941298
rs1285479324
206 R>G No ClinGen
gnomAD
CA4687187
rs781384654
207 V>I No ClinGen
ExAC
gnomAD
CA4687185
rs570621342
209 V>M No ClinGen
1000Genomes
ExAC
gnomAD
CA370941275
rs1167460016
210 V>M No ClinGen
TOPMed
gnomAD
CA370941264
rs1420064493
211 A>V No ClinGen
TOPMed
gnomAD
TCGA novel 214 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749902900
CA4687182
215 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 215 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200422473
CA4687180
216 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA370941233
rs1252993409
216 R>Q No ClinGen
gnomAD
rs200422473
CA4687181
216 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4687177
rs760453930
217 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA370941230
rs150544480
217 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150544480
CA4687178
217 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766542151
CA4687175
218 L>V No ClinGen
ExAC
gnomAD
rs770330974
CA4687172
CA370941217
219 K>N No ClinGen
ExAC
gnomAD
CA4687174
rs763055494
219 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs773249771
CA4687173
219 K>R No ClinGen
ExAC
gnomAD
rs748586055
CA4687171
220 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs201098896
CA4687170
221 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1324162537
CA370941204
222 L>F No ClinGen
gnomAD
CA370941205
rs1324162537
222 L>I No ClinGen
gnomAD
rs1406968822
CA370941202
222 L>P No ClinGen
gnomAD
CA370941188
rs1461181789
224 T>I No ClinGen
gnomAD
rs1041496781
CA174607398
224 T>P No ClinGen
Ensembl
rs745411477
CA4687165
225 D>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 225 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201951243
CA4687164
227 S>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs999941374
CA174607395
228 D>G No ClinGen
TOPMed
gnomAD
CA4687163
rs757286802
232 V>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs753725490
CA4687162
233 T>M No ClinGen
ExAC
gnomAD
rs986191041
CA174607394
235 R>C No ClinGen
TOPMed
rs986191041
CA370941122
235 R>G No ClinGen
TOPMed
COSM1157803
rs755886691
COSM1157805
COSM3395002
CA370941120
COSM1157802
COSM1157804
235 R>H pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA4687160
rs755886691
235 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA370941108
rs1262421772
237 H>L No ClinGen
Ensembl
rs1262421772
CA370941107
237 H>R No ClinGen
Ensembl
rs1221677387
CA370941109
237 H>Y No ClinGen
gnomAD
CA4687159
rs141722973
238 R>W No ClinGen
ESP
ExAC
gnomAD
rs1275161397
CA370941087
240 N>S No ClinGen
gnomAD
CA370941079
rs1308349036
241 A>D No ClinGen
TOPMed
TCGA novel 241 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1368688997
CA370941076
242 P>A No ClinGen
gnomAD
CA4687157
rs763135595
242 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA370941073
rs763135595
242 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA370941072
rs1406610294
243 A>T No ClinGen
gnomAD
rs765293217
CA4687155
244 G>A No ClinGen
ExAC
gnomAD
COSM1098585
rs1389708992
CA370941065
COSM1098586
COSM1098584
COSM1098587
244 G>R Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs140371319
CA4687154
246 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777015396
CA4687153
246 S>R No ClinGen
ExAC
gnomAD
COSM184200
rs3730287
COSM184199
CA4687151
CA4687152
247 G>R large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 248 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775965765
CA4687150
248 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1190480468
CA370941044
248 M>V No ClinGen
TOPMed
rs1251659077
CA370941034
249 A>D No ClinGen
TOPMed
gnomAD
rs778643760
CA4687148
251 A>D No ClinGen
ExAC
gnomAD
CA4687147
rs778643760
251 A>G No ClinGen
ExAC
gnomAD
COSM1098582
COSM1098581
COSM1098579
CA4687149
COSM1098580
rs777863824
251 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs777605702
CA4687144
255 T>S No ClinGen
ExAC
gnomAD
CA4687143
rs756051939
256 H>D No ClinGen
ExAC
TOPMed
gnomAD
CA174607392
rs886364953
256 H>P No ClinGen
TOPMed
rs569147612
CA174607391
COSM73602
256 H>Q ovary [Cosmic] No ClinGen
cosmic curated
1000Genomes
gnomAD
TCGA novel 259 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA370940961
rs1302545795
261 L>I No ClinGen
gnomAD
CA4687141
rs752541661
262 L>F No ClinGen
ExAC
gnomAD
CA370940946
rs1299232273
263 K>R No ClinGen
TOPMed
CA370940936
rs1376249244
264 F>L No ClinGen
TOPMed
rs780947238
CA4687139
265 S>F No ClinGen
ExAC
gnomAD
CA370940926
rs750645265
266 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA4687137
rs750645265
266 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA370940928
rs1344821349
266 R>W No ClinGen
TOPMed
gnomAD
CA370940925
rs1393618610
267 E>* No ClinGen
TOPMed
gnomAD
CA370940923
rs1393618610
267 E>Q No ClinGen
TOPMed
gnomAD
rs1173589608
CA370940910
268 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs765438943
CA4687136
270 A>E No ClinGen
ExAC
gnomAD
CA370940877
rs1218686921
273 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA4687134
rs201224020
275 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA174607388
rs948494007
279 G>D No ClinGen
TOPMed
rs948494007
CA370940843
279 G>V No ClinGen
TOPMed
CA370940829
rs1307815039
281 F>L No ClinGen
TOPMed
gnomAD
CA174607387
rs916744865
281 F>V No ClinGen
TOPMed
CA174607386
rs562058379
284 C>Y No ClinGen
Ensembl
rs532108221
CA370940802
285 W>* No ClinGen
1000Genomes
ExAC
gnomAD
CA4687131
rs532108221
285 W>C No ClinGen
1000Genomes
ExAC
gnomAD
CA4687130
rs772571115
289 F>S No ClinGen
ExAC
gnomAD
TCGA novel 289 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 290 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA370940764
rs1585866764
291 V>A No ClinGen
Ensembl
CA174607385
rs984918313
291 V>L No ClinGen
Ensembl
rs952210470
CA174607384
292 M>V No ClinGen
Ensembl
COSM93863
CA4687129
rs148938279
293 P>S lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs148938279
CA370940754
293 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4687127
rs770575130
294 I>M No ClinGen
ExAC
gnomAD
CA174607383
rs894242368
294 I>T No ClinGen
Ensembl
rs774167863
CA4687128
294 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA4687126
rs201898898
295 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4687064
rs771862634
295 G>V No ClinGen
ExAC
gnomAD
TCGA novel 295 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1352949837
CA370800623
298 F>L No ClinGen
gnomAD
CA4687063
rs530226078
299 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs773993150
CA4687062
300 D>N No ClinGen
ExAC
gnomAD
rs924812539
CA174206430
305 E>A No ClinGen
TOPMed
CA4687059
rs149810611
305 E>D No ClinGen
ESP
ExAC
gnomAD
rs924812539
CA174206428
305 E>V No ClinGen
TOPMed
CA4687057
rs747014204
307 V>I No ClinGen
ExAC
gnomAD
rs1193215914
CA370800493
310 I>V No ClinGen
TOPMed
CA4687055
rs758801521
311 V>A No ClinGen
ExAC
gnomAD
CA174206424
COSM2787553
rs267601877
COSM2787552
COSM36671
COSM2787551
311 V>I Variant assessed as Somatic; impact. urinary_tract skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA4687054
rs750850144
313 W>* No ClinGen
ExAC
CA370800451
rs1455916431
314 L>F No ClinGen
gnomAD
COSM1456312
CA4687052
rs756970856
COSM1456311
COSM1456314
COSM1456313
315 G>R pancreas large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA4687051
rs753502612
316 Y>C No ClinGen
ExAC
gnomAD
CA4687050
rs561399406
317 L>I No ClinGen
1000Genomes
ExAC
gnomAD
CA4687049
rs760261856
321 I>V No ClinGen
ExAC
gnomAD
rs1315965898
CA370800350
322 N>K No ClinGen
TOPMed
CA370800352
rs1458563910
322 N>S No ClinGen
TOPMed
CA174206410
rs747781549
323 P>L No ClinGen
Ensembl
rs914980492
CA174206412
323 P>S No ClinGen
Ensembl
CA370800341
rs1212939994
324 I>T No ClinGen
gnomAD
rs778336110
CA370800324
326 Y>* No ClinGen
ExAC
gnomAD
rs1326198666
CA370800329
326 Y>H No ClinGen
TOPMed
gnomAD
CA370800315
rs1436732422
328 C>R No ClinGen
TOPMed
CA4687046
rs544693873
329 S>A No ClinGen
1000Genomes
ExAC
gnomAD
CA370800296
rs1362965212
330 S>R No ClinGen
gnomAD
rs774350712
CA4687045
331 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs147708857
CA174206402
332 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4687044
rs766276890
332 E>K No ClinGen
ExAC
gnomAD
rs1313869976
CA370800270
334 K>T No ClinGen
gnomAD
rs1437190962
CA370800260
335 K>T No ClinGen
gnomAD
rs147084464
CA4687042
336 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs147084464
CA370800253
336 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA370800229
rs1174794179
339 N>K No ClinGen
gnomAD
TCGA novel 342 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA174206396
rs893538993
345 C>* No ClinGen
TOPMed
gnomAD
rs1048101
CA370800179
347 C>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4687038
rs1048101
VAR_019509
347 C>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA370800180
rs1048101
347 C>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4687036
rs965188288
347 C>Y No ClinGen
Ensembl
rs999009558
CA174206392
348 R>T No ClinGen
TOPMed
rs1183017316
CA370800167
349 K>E No ClinGen
TOPMed
rs746357923
CA4687035
351 S>A No ClinGen
ExAC
gnomAD
CA4687034
rs779325768
352 S>P No ClinGen
ExAC
gnomAD
rs1255305650
CA370800138
353 K>R No ClinGen
gnomAD
CA4687032
rs368862425
355 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA174206386
rs368862425
355 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4687030
rs376514624
356 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1416977142
CA370800116
357 G>D No ClinGen
gnomAD
CA4687028
rs766929695
357 G>S No ClinGen
ExAC
gnomAD
rs751552739
CA4687026
359 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA4687025
rs766374819
360 L>Q No ClinGen
ExAC
gnomAD
CA370800092
rs1585649468
361 H>P No ClinGen
Ensembl
rs140157368
CA174206375
361 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764428220
CA4687022
362 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs764428220
CA4687023
362 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA370800082
rs1438457309
363 P>R No ClinGen
gnomAD
CA370800073
rs1255156476
364 S>R No ClinGen
gnomAD
rs760797135
CA4687021
366 A>T No ClinGen
ExAC
gnomAD
rs1481575037
CA370800059
366 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4687017
rs774870151
367 V>A No ClinGen
ExAC
gnomAD
CA370800058
rs528677959
367 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs528677959
CA4687018
COSM1244531
COSM1244532
COSM1244529
COSM1244530
367 V>M Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs150908283
CA4687016
369 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs900091309
CA174206358
369 G>R No ClinGen
TOPMed
CA370800036
rs1461161669
370 Q>H No ClinGen
TOPMed
gnomAD
CA4687015
rs749700097
371 H>D No ClinGen
ExAC
gnomAD
CA4687013
rs755860403
374 M>T No ClinGen
ExAC
gnomAD
CA4687014
rs536980137
374 M>V No ClinGen
ExAC
TOPMed
CA4687012
rs61731555
375 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1098558
COSM1098557
COSM1098556
CA4687010
COSM1098559
rs1496121
376 R>C endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA174206348
rs1496121
376 R>G No ClinGen
ExAC
gnomAD
rs140512348
CA4687009
376 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs140512348
CA174206344
376 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA370799999
rs1496121
376 R>S No ClinGen
ExAC
gnomAD
CA370799991
rs758390565
377 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA4687004
rs573286753
379 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM3382200
COSM3382199
rs573286753
COSM3382201
CA4687005
COSM3382198
379 V>M Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs556667784
CA4687002
381 S>T No ClinGen
1000Genomes
ExAC
gnomAD
CA370799956
rs1159553140
383 E>D No ClinGen
gnomAD
rs759652152
CA4687001
386 Y>C No ClinGen
ExAC
gnomAD
CA4686999
rs771483951
387 R>G No ClinGen
ExAC
gnomAD
CA4686997
rs151273238
391 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1699873
rs748492860
COSM1699874
CA4686995
COSM1699875
COSM1699872
392 D>N Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA174206323
rs947542247
394 V>A No ClinGen
Ensembl
CA370799874
rs558845106
394 V>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4686991
rs558845106
394 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs61760514
CA4686989
395 C>* No ClinGen
ExAC
TOPMed
gnomAD
CA370799843
rs1195322775
397 W>* No ClinGen
TOPMed
CA370799819
rs1563237725
399 F>L No ClinGen
Ensembl
CA4686987
rs757033660
402 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs753637648
CA4686986
403 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA370799781
rs1389544003
404 P>L No ClinGen
gnomAD
CA4686985
rs767679858
404 P>T No ClinGen
ExAC
gnomAD
CA4686984
rs759739923
405 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4686983
rs567016649
405 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA370799772
rs1358339890
406 G>E No ClinGen
gnomAD
rs999313378
CA174206309
406 G>R No ClinGen
TOPMed
rs766449308
CA4686982
407 S>P No ClinGen
ExAC
gnomAD
TCGA novel 407 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs368275566
CA4686979
408 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4686980
rs368275566
408 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762959100
CA4686981
408 A>P No ClinGen
ExAC
gnomAD
rs1416395119
CA370799751
410 I>F No ClinGen
gnomAD
CA174206302
rs576498291
412 V>A No ClinGen
gnomAD
CA370799722
rs1402376311
412 V>M No ClinGen
TOPMed
CA174206300
VAR_049371
rs3730247
414 K>R No ClinGen
UniProt
TOPMed
dbSNP
TCGA novel 415 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA370799647
rs1585648786
417 S>T No ClinGen
Ensembl
CA4686977
rs777034772
417 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs908462360
CA174206294
418 S>F No ClinGen
gnomAD
CA4686975
rs372173736
419 C>R No ClinGen
ESP
ExAC
CA370799615
rs1382450299
419 C>W No ClinGen
TOPMed
rs779788145
CA4686974
422 A>T No ClinGen
ExAC
gnomAD
CA4686973
rs771722367
423 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs367786537
CA174206289
423 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
rs745335442
CA4686972
424 V>M No ClinGen
ExAC
gnomAD
CA4686971
rs778755383
425 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA370799534
rs1563237483
426 S>G No ClinGen
Ensembl
CA4686970
rs757196717
426 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA174206282
rs757196717
426 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA4686969
rs753632480
428 S>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 428 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777539457
CA4686968
430 L>S No ClinGen
ExAC
gnomAD
CA4686966
rs1048102
431 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA174206276
rs1048102
431 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs751790994
CA4686965
431 Q>H No ClinGen
ExAC
gnomAD
rs1377173003
CA370799454
431 Q>R No ClinGen
gnomAD
rs137939451
CA4686964
433 C>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 434 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA370799408
rs1460677639
434 C>Y No ClinGen
TOPMed
CA4686963
rs758500506
435 C>S No ClinGen
ExAC
gnomAD
rs765717995
CA4686960
439 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA4686959
rs762370840
440 T>A No ClinGen
ExAC
TOPMed
rs776927741
CA4686958
440 T>I No ClinGen
ExAC
gnomAD
CA174206264
rs958681910
441 P>A No ClinGen
TOPMed
gnomAD
TCGA novel 442 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs138751075
CA174206262
442 S>C No ClinGen
ESP
TOPMed
gnomAD
rs138751075
CA370799304
442 S>R No ClinGen
ESP
TOPMed
gnomAD
CA4686956
rs761063889
443 L>P No ClinGen
ExAC
gnomAD
rs1563237380
CA370799273
444 D>N No ClinGen
Ensembl
rs1406020875
CA370799221
446 N>I No ClinGen
TOPMed
CA370799219
rs1244140376
446 N>K No ClinGen
gnomAD
CA370799223
rs1406020875
446 N>T No ClinGen
TOPMed
rs771818468
CA4686954
448 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1563237349
CA370799130
COSM1456309
451 T>I Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1357081338
CA370799120
452 I>N No ClinGen
gnomAD
CA4686951
rs770838608
452 I>V No ClinGen
ExAC
gnomAD
CA4686949
rs777627486
453 K>N No ClinGen
ExAC
gnomAD
rs1168557189
CA370799089
454 V>A No ClinGen
gnomAD
CA4686948
rs373717543
454 V>I No ClinGen
ESP
ExAC
gnomAD
CA174206250
rs866461368
455 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1421717697
CA370799064
456 T>A No ClinGen
gnomAD
CA370799066
rs1421717697
456 T>P No ClinGen
gnomAD
CA370799029
rs1204162907
458 S>P No ClinGen
TOPMed
gnomAD
rs747894155
CA4686947
460 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA370798990
rs747894155
460 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs201746874
CA4686946
462 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA174206239
rs867611987
463 G>E No ClinGen
Ensembl
CA174206241
rs766671226
463 G>R No ClinGen
TOPMed
gnomAD
CA4686942
rs757219537
464 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA4686940
rs2229126
VAR_049372
465 E>D No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1199954998
CA370798888
465 E>K No ClinGen
gnomAD

No associated diseases with P35348

No regional properties for P35348

Type Name Position InterPro Accession
No domain, repeats, and functional sites for P35348

Functions

Description
EC Number
Subcellular Localization
  • Nucleus membrane; Multi-pass membrane protein
  • Cell membrane ; Multi-pass membrane protein
  • Cytoplasm
  • Membrane, caveola
  • Location at the nuclear membrane facilitates heterooligomerization and regulates ERK-mediated signaling in cardiac myocytes
  • Colocalizes with GNAQ, PLCB1 as well as LAP2 at the nuclear membrane of cardiac myocytes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

16 GO annotations of cellular component

Name Definition
caveola A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dopaminergic synapse A synapse that uses dopamine as a neurotransmitter.
GABA-ergic synapse A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory.
glutamatergic synapse A synapse that uses glutamate as a neurotransmitter.
integral component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of postsynaptic membrane The component of the postsynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of presynaptic membrane The component of the presynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nuclear membrane Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
T-tubule Invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. The ends of T-tubules make contact with the sarcoplasmic reticulum membrane.
Z disc Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.

3 GO annotations of molecular function

Name Definition
alpha1-adrenergic receptor activity Combining with epinephrine or norepinephrine to initiate a change in cell activity via activation of a G protein, with pharmacological characteristics of alpha1-adrenergic receptors; the activity involves transmitting the signal to the Gq alpha subunit of a heterotrimeric G protein.
G protein-coupled receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.
protein heterodimerization activity Binding to a nonidentical protein to form a heterodimer.

40 GO annotations of biological process

Name Definition
activation of phospholipase C activity The initiation of the activity of the inactive enzyme phospolipase C as the result of The series of molecular signals generated as a consequence of a G protein-coupled receptor binding to its physiological ligand.
adenylate cyclase-activating adrenergic receptor signaling pathway An adenylate cyclase-activating G protein-coupled receptor signaling pathway initiated by a ligand binding to an adrenergic receptor on the surface of the target cell, and ending with the regulation of a downstream cellular process.
adult heart development The process whose specific outcome is the progression of the adult heart over time, from its formation to the mature structure.
aging A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700).
apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
calcium ion transport into cytosol The directed movement of calcium ions (Ca2+) into the cytosol.
cell growth involved in cardiac muscle cell development The growth of a cardiac muscle cell, where growth contributes to the progression of the cell over time from its initial formation to its mature state.
cell-cell signaling Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions.
G protein-coupled receptor signaling pathway The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
MAPK cascade An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell.
micturition The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body.
multicellular organism aging An aging process that has as participant a whole multicellular organism. Multicellular organism aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Multicellular organisms aging includes processes like cellular senescence and organ senescence, but is more inclusive. May precede death (GO:0016265) of an organism and may succeed developmental maturation (GO:0021700).
negative regulation of autophagy Any process that stops, prevents, or reduces the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of heart rate involved in baroreceptor response to increased systemic arterial blood pressure Any process that stops, prevents, or reduces the frequency, rate or extent of heart contraction as a result of the baroreceptor response to increased blood pressure.
negative regulation of Rho protein signal transduction Any process that stops, prevents, or reduces the frequency, rate or extent of Rho protein signal transduction.
neuron-glial cell signaling Cell-cell signaling that mediates the transfer of information from a neuron to a glial cell. This signalling has been shown to be mediated by various molecules released by different types of neurons, e.g. glutamate, gamma-amino butyric acid (GABA), noradrenaline, acetylcholine, dopamine and adenosine.
norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure A process that results in a decrease in the diameter of an artery during the norepinephrine-epinephrine response to decreased blood pressure.
phospholipase C-activating G protein-coupled receptor signaling pathway A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of phospholipase C (PLC) and a subsequent increase in the intracellular concentration of inositol trisphosphate (IP3) and diacylglycerol (DAG).
pilomotor reflex The reflex process in which the arrectores pilorum (hair follicle) muscles contract and cause the hair to stand erect.
positive regulation of action potential Any process that activates or increases the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels.
positive regulation of cardiac muscle contraction Any process that increases the frequency, rate or extent of cardiac muscle contraction.
positive regulation of cardiac muscle hypertrophy Any process that increases the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division.
positive regulation of cytosolic calcium ion concentration Any process that increases the concentration of calcium ions in the cytosol.
positive regulation of ERK1 and ERK2 cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of heart rate by epinephrine-norepinephrine The process in which the presence of epinephrine or norepinephrine in the bloodstream activates, maintains or increases the rate of heart contraction.
positive regulation of MAPK cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of non-membrane spanning protein tyrosine kinase activity Any process that activates or increases the frequency, rate or extent of non-membrane spanning protein tyrosine kinase activity.
positive regulation of protein kinase C signaling Any process that increases the frequency, rate, or extent of a series of reactions, mediated by the intracellular serine/threonine kinase protein kinase C, which occurs as a result of a single trigger reaction or compound.
positive regulation of smooth muscle contraction Any process that activates or increases the frequency, rate or extent of smooth muscle contraction.
positive regulation of synaptic transmission, GABAergic Any process that activates, maintains or increases the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA).
positive regulation of systemic arterial blood pressure The process that increases the force with which blood travels through the systemic arterial circulatory system.
positive regulation of the force of heart contraction by epinephrine-norepinephrine Any process that increases the force with which the cardiac muscles of the heart pump blood through the circulatory system as a result of the presence of epinephrine or norepinephrine in the bloodstream or released from the nerve endings.
positive regulation of vasoconstriction Any process that activates or increases the frequency, rate or extent of vasoconstriction.
regulation of synaptic vesicle exocytosis Any process that modulates the frequency, rate or extent of synaptic vesicle exocytosis.
response to hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus.
response to xenobiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length.

119 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q0GBZ5 HCRTR1 Orexin/Hypocretin receptor type 1 Bos taurus (Bovine) PR
Q17QD8 GPR37L1 G-protein coupled receptor 37-like 1 Bos taurus (Bovine) PR
Q8SPN1 PROKR2 Prokineticin receptor 2 Bos taurus (Bovine) PR
P46626 ADRB3 Beta-3 adrenergic receptor Bos taurus (Bovine) PR
O46639 TRHR Thyrotropin-releasing hormone receptor Bos taurus (Bovine) PR
Q8SPN2 PROKR1 Prokineticin receptor 1 Bos taurus (Bovine) PR
B9VR26 CMLKR1 Chemerin-like receptor 1 Bos taurus (Bovine) PR
B4XF06 GPR39 G-protein coupled receptor 39 Bos taurus (Bovine) PR
Q2YDN1 GPR161 G protein-coupled receptor 161 Bos taurus (Bovine) PR
P18130 ADRA1A Alpha-1A adrenergic receptor Bos taurus (Bovine) PR
O18913 OPN1LW Long-wave-sensitive opsin 1 Felis catus (Cat) (Felis silvestris catus) PR
P28683 PRA1 Green-sensitive opsin Gallus gallus (Chicken) PR
Q9N298 HTR1A 5-hydroxytryptamine receptor 1A Pan troglodytes (Chimpanzee) PR
P08099 Rh2 Opsin Rh2 Drosophila melanogaster (Fruit fly) PR
P06002 ninaE Opsin Rh1 Drosophila melanogaster (Fruit fly) PR
Q4LBB9 Octbeta2R Octopamine receptor beta-2R Drosophila melanogaster (Fruit fly) PR
Q8NFJ6 PROKR2 Prokineticin receptor 2 Homo sapiens (Human) PR
Q13585 GPR50 Melatonin-related receptor Homo sapiens (Human) PR
Q9BZJ6 GPR63 Probable G-protein coupled receptor 63 Homo sapiens (Human) PR
Q9H3N8 HRH4 Histamine H4 receptor Homo sapiens (Human) PR
P28336 NMBR Neuromedin-B receptor Homo sapiens (Human) PR
Q9Y5Y3 GPR45 Probable G-protein coupled receptor 45 Homo sapiens (Human) PR
P41597 CCR2 C-C chemokine receptor type 2 Homo sapiens (Human) PR
P51681 CCR5 C-C chemokine receptor type 5 Homo sapiens (Human) PR
Q8TCW9 PROKR1 Prokineticin receptor 1 Homo sapiens (Human) PR
Q99788 CMKLR1 Chemerin-like receptor 1 Homo sapiens (Human) PR
P08908 HTR1A 5-hydroxytryptamine receptor 1A Homo sapiens (Human) PR
P30559 OXTR Oxytocin receptor Homo sapiens (Human) PR
P32239 CCKBR Gastrin/cholecystokinin type B receptor Homo sapiens (Human) PR
O60883 GPR37L1 G-protein coupled receptor 37-like 1 Homo sapiens (Human) PR
Q8TDU9 RXFP4 Relaxin-3 receptor 2 Homo sapiens (Human) PR
P04000 OPN1LW Long-wave-sensitive opsin 1 Homo sapiens (Human) PR
Q6U736 OPN5 Opsin-5 Homo sapiens (Human) PR
P34972 CNR2 Cannabinoid receptor 2 Homo sapiens (Human) PR
P24530 EDNRB Endothelin receptor type B Homo sapiens (Human) PR
Q6W5P4 NPSR1 Neuropeptide S receptor Homo sapiens (Human) PR
O43613 HCRTR1 Orexin/Hypocretin receptor type 1 Homo sapiens (Human) PR
P61073 CXCR4 C-X-C chemokine receptor type 4 Homo sapiens (Human) PR
Q9BXC0 HCAR1 Hydroxycarboxylic acid receptor 1 Homo sapiens (Human) PR
P30556 AGTR1 Type-1 angiotensin II receptor Homo sapiens (Human) PR
Q15761 NPY5R Neuropeptide Y receptor type 5 Homo sapiens (Human) PR
Q6DWJ6 GPR139 Probable G-protein coupled receptor 139 Homo sapiens (Human) PR
P21462 FPR1 fMet-Leu-Phe receptor Homo sapiens (Human) PR
P35414 APLNR Apelin receptor Homo sapiens (Human) PR
P46091 CMKLR2 Chemerin-like receptor 2 Homo sapiens (Human) PR
P32745 SSTR3 Somatostatin receptor type 3 Homo sapiens (Human) PR
P41439 FOLR3 Folate receptor gamma Homo sapiens (Human) PR
Q8N6U8 GPR161 G-protein coupled receptor 161 Homo sapiens (Human) PR
P08913 ADRA2A Alpha-2A adrenergic receptor Homo sapiens (Human) PR
P19973 Lsp1 Lymphocyte-specific protein 1 Mus musculus (Mouse) PR
O54799 Nmbr Neuromedin-B receptor Mus musculus (Mouse) PR
Q64264 Htr1a 5-hydroxytryptamine receptor 1A Mus musculus (Mouse) PR
P51675 Ccr1 C-C chemokine receptor type 1 Mus musculus (Mouse) PR
Q5U431 Gpr39 G-protein coupled receptor 39 Mus musculus (Mouse) PR
Q99JG2 Gpr37l1 G-protein coupled receptor 37-like 1 Mus musculus (Mouse) PR
P97295 Npy2r Neuropeptide Y receptor type 2 Mus musculus (Mouse) PR
O08786 Cckar Cholecystokinin receptor type A Mus musculus (Mouse) PR
P56481 Cckbr Gastrin/cholecystokinin type B receptor Mus musculus (Mouse) PR
P30731 Gpr83 G-protein coupled receptor 83 Mus musculus (Mouse) PR
P97468 Cmklr1 Chemerin-like receptor 1 Mus musculus (Mouse) PR
P21761 Trhr Thyrotropin-releasing hormone receptor Mus musculus (Mouse) PR
Q5QD16 Taar3 Trace amine-associated receptor 3 Mus musculus (Mouse) PR
P97292 Hrh2 Histamine H2 receptor Mus musculus (Mouse) PR
Q9EQQ3 Gpr63 Probable G-protein coupled receptor 63 Mus musculus (Mouse) PR
Q924H0 Npffr2 Neuropeptide FF receptor 2 Mus musculus (Mouse) PR
P34971 Adrb1 Beta-1 adrenergic receptor Mus musculus (Mouse) PR
Q91ZY2 Hrh4 Histamine H4 receptor Mus musculus (Mouse) PR
O88416 Gpr33 Probable G-protein coupled receptor 33 Mus musculus (Mouse) PR
Q8K087 Cmklr2 Chemerin-like receptor 2 Mus musculus (Mouse) PR
P70658 Cxcr4 C-X-C chemokine receptor type 4 Mus musculus (Mouse) PR
Q9WV08 Aplnr Apelin receptor Mus musculus (Mouse) PR
Q8BZP8 Npsr1 Neuropeptide S receptor Mus musculus (Mouse) PR
Q8K458 Prokr2 Prokineticin receptor 2 Mus musculus (Mouse) PR
P58308 Hcrtr2 Orexin receptor type 2 Mus musculus (Mouse) PR
Q7TQP3 Gpr119 Glucose-dependent insulinotropic receptor Mus musculus (Mouse) PR
Q8BGE9 Rxfp3 Relaxin-3 receptor 1 Mus musculus (Mouse) PR
Q6VZZ7 Opn5 Opsin-5 Mus musculus (Mouse) PR
Q8CIM5 Gpr84 G-protein coupled receptor 84 Mus musculus (Mouse) PR
P25962 Adrb3 Beta-3 adrenergic receptor Mus musculus (Mouse) PR
Q80UC8 Gpr139 Probable G-protein coupled receptor 139 Mus musculus (Mouse) PR
P0C5I1 Gpr25 Probable G-protein coupled receptor 25 Mus musculus (Mouse) PR
P47936 Cnr2 Cannabinoid receptor 2 Mus musculus (Mouse) PR
Q5QD13 Taar6 Trace amine-associated receptor 6 Mus musculus (Mouse) PR
P35846 Folr1 Folate receptor alpha Mus musculus (Mouse) PR
P58307 Hcrtr1 Orexin/Hypocretin receptor type 1 Mus musculus (Mouse) PR
Q8C131 Hcar1 Hydroxycarboxylic acid receptor 1 Mus musculus (Mouse) PR
Q9EQQ4 Gpr45 Probable G-protein coupled receptor 45 Mus musculus (Mouse) PR
B2RPY5 Gpr161 G-protein coupled receptor 161 Mus musculus (Mouse) PR
P97718 Adra1a Alpha-1A adrenergic receptor Mus musculus (Mouse) PR
Q764M9 CXCR4 C-X-C chemokine receptor type 4 Sus scrofa (Pig) PR
Q9EQD2 Npffr2 Neuropeptide FF receptor 2 Rattus norvegicus (Rat) PR
O08565 Cxcr4 C-X-C chemokine receptor type 4 Rattus norvegicus (Rat) PR
Q01717 Trhr Thyrotropin-releasing hormone receptor Rattus norvegicus (Rat) PR
P30936 Sstr3 Somatostatin receptor type 3 Rattus norvegicus (Rat) PR
Q9JHG3 Aplnr Apelin receptor Rattus norvegicus (Rat) PR
P19327 Htr1a 5-hydroxytryptamine receptor 1A Rattus norvegicus (Rat) PR
P56719 Hcrtr2 Orexin receptor type 2 Rattus norvegicus (Rat) PR
P28564 Htr1b 5-hydroxytryptamine receptor 1B Rattus norvegicus (Rat) PR
P56718 Hcrtr1 Orexin/Hypocretin receptor type 1 Rattus norvegicus (Rat) PR
P28647 Adora3 Adenosine receptor A3 Rattus norvegicus (Rat) PR
P25102 Hrh2 Histamine H2 receptor Rattus norvegicus (Rat) PR
P23944 Adra1d Alpha-1D adrenergic receptor Rattus norvegicus (Rat) PR
Q8R415 Prokr2 Prokineticin receptor 2 Rattus norvegicus (Rat) PR
Q5QD24 Taar3 Trace amine-associated receptor 3 Rattus norvegicus (Rat) PR
P0C0W8 Gpr139 Probable G-protein coupled receptor 139 Rattus norvegicus (Rat) PR
P35370 Oprl1 Nociceptin receptor Rattus norvegicus (Rat) PR
P46090 Cmklr2 Chemerin-like receptor 2 Rattus norvegicus (Rat) PR
P43140 Adra1a Alpha-1A adrenergic receptor Rattus norvegicus (Rat) PR
O97664 CMKLR2 Chemerin-like receptor 2 Macaca mulatta (Rhesus macaque) PR
O97666 APLNR Apelin receptor Macaca mulatta (Rhesus macaque) PR
Q56H79 NPSR1 Neuropeptide S receptor Macaca mulatta (Rhesus macaque) PR
Q18904 npr-8 Probable G-protein coupled receptor npr-8 Caenorhabditis elegans PR
Q09388 gar-2 Muscarinic acetylcholine receptor gar-2 Caenorhabditis elegans PR
B3DM66 gpr161 G-protein coupled receptor 161 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q9W6A6 opn1mw4 Green-sensitive opsin-4 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q9W6A5 opn1mw1 Green-sensitive opsin-1 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q8AYM7 opn1mw3 Green-sensitive opsin-3 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q8AYN0 opn1lw2 Red-sensitive opsin-2 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q90X46 gpr161 G-protein coupled receptor 161 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MVFLSGNASD SSNCTQPPAP VNISKAILLG VILGGLILFG VLGNILVILS VACHRHLHSV
70 80 90 100 110 120
THYYIVNLAV ADLLLTSTVL PFSAIFEVLG YWAFGRVFCN IWAAVDVLCC TASIMGLCII
130 140 150 160 170 180
SIDRYIGVSY PLRYPTIVTQ RRGLMALLCV WALSLVISIG PLFGWRQPAP EDETICQINE
190 200 210 220 230 240
EPGYVLFSAL GSFYLPLAII LVMYCRVYVV AKRESRGLKS GLKTDKSDSE QVTLRIHRKN
250 260 270 280 290 300
APAGGSGMAS AKTKTHFSVR LLKFSREKKA AKTLGIVVGC FVLCWLPFFL VMPIGSFFPD
310 320 330 340 350 360
FKPSETVFKI VFWLGYLNSC INPIIYPCSS QEFKKAFQNV LRIQCLCRKQ SSKHALGYTL
370 380 390 400 410 420
HPPSQAVEGQ HKDMVRIPVG SRETFYRISK TDGVCEWKFF SSMPRGSARI TVSKDQSSCT
430 440 450 460
TARVRSKSFL QVCCCVGPST PSLDKNHQVP TIKVHTISLS ENGEEV