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

15 structures for P08173

Entry ID Method Resolution Chain Position Source
5DSG X-ray 260 A PDB
6D9H EM 360 A R 2-23 PDB
6KP6 X-ray 300 A PDB
7LD3 EM 320 A R 2-23 PDB
7LD4 EM 330 A R 2-23 PDB
7TRK EM 280 A R 1-479 PDB
7TRP EM 240 A R 1-479 PDB
7TRQ EM 250 A R 1-479 PDB
7TRS EM 280 A R 1-479 PDB
7V68 EM 340 A R 1-479 PDB
7V69 EM 340 A R 1-479 PDB
7V6A EM 360 A R 1-479 PDB
8E9X EM 270 A A 1-479 PDB
8FX5 EM 245 A R 1-479 PDB
AF-P08173-F1 Predicted AlphaFoldDB

321 variants for P08173

Variant ID(s) Position Change Description Diseaes Association Provenance
CA380243082
rs1407454081
2 A>D No ClinGen
gnomAD
rs1048059766
CA221614400
6 P>L No ClinGen
Ensembl
rs1565104853
CA380242975
6 P>S No ClinGen
Ensembl
rs1565104843
CA380242926
8 N>S No ClinGen
Ensembl
CA221614399
rs200113842
10 S>R No ClinGen
TOPMed
rs750526872
CA380242867
11 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs750526872
CA5963912
11 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA221614398
rs867552583
12 G>S No ClinGen
Ensembl
rs754071452
CA5963909
13 N>H No ClinGen
ExAC
TOPMed
rs759355565
CA5963907
14 Q>P No ClinGen
ExAC
gnomAD
rs774099897
CA5963906
15 S>P No ClinGen
ExAC
gnomAD
rs569447371
CA380242763
16 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs569447371
CA5963904
16 V>M Variant assessed as Somatic; 4.646e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5963903
rs754403612
17 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs201094203
CA221614397
17 R>S No ClinGen
Ensembl
rs769364189
CA5963902
18 L>M No ClinGen
ExAC
gnomAD
CA221614396
rs199942700
18 L>P No ClinGen
Ensembl
rs201628810
CA221614395
19 V>L No ClinGen
TOPMed
CA5963901
rs200945802
20 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1205584433
CA380242641
20 T>S No ClinGen
gnomAD
rs1275501715
CA380242540
24 H>R No ClinGen
TOPMed
gnomAD
rs976496887
CA221614393
25 N>S No ClinGen
TOPMed
gnomAD
rs780553103
CA5963897
26 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA221614392
rs199535822
27 Y>H No ClinGen
Ensembl
CA5963896
rs200584974
29 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA221614388
rs200760652
32 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs779228087
CA5963894
34 F>L No ClinGen
ExAC
gnomAD
CA5963893
rs757378742
35 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1173791093
CA380242168
38 V>A No ClinGen
gnomAD
rs1425342300
CA380242175
38 V>L No ClinGen
TOPMed
gnomAD
rs764337473
CA5963891
42 L>Q No ClinGen
ExAC
gnomAD
CA221614384
rs200632562
48 V>M No ClinGen
Ensembl
rs1279479189
CA380241893
53 V>M No ClinGen
gnomAD
CA380241859
rs1220967159
54 M>I No ClinGen
gnomAD
rs1342471234
CA380241872
54 M>L No ClinGen
TOPMed
gnomAD
CA5963884
rs761450770
58 K>N No ClinGen
ExAC
gnomAD
CA221614383
rs200267822
58 K>R No ClinGen
Ensembl
CA380241673
rs1449260589
63 L>P No ClinGen
TOPMed
CA380241656
rs1301453210
64 Q>R No ClinGen
gnomAD
CA5963882
rs371703178
69 Y>N No ClinGen
ESP
ExAC
TOPMed
CA380241564
rs1398413301
69 Y>S No ClinGen
gnomAD
CA380241500
rs1159745806
73 S>G No ClinGen
gnomAD
rs1590682664
CA380241407
77 A>D No ClinGen
Ensembl
rs1565104626
CA380241388
78 D>V No ClinGen
Ensembl
CA221614378
rs1033644783
82 G>S No ClinGen
Ensembl
CA5963877
rs374767842
83 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5963878
rs201003362
83 A>T No ClinGen
ExAC
gnomAD
CA5963876
rs374767842
83 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1212338697
CA380241208
88 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5963874
COSM3791510
rs777815412
91 V>A Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA5963873
rs756391180
93 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA221614375
rs200620413
93 I>V No ClinGen
Ensembl
TCGA novel 94 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA380241084
rs1228060508
95 K>E No ClinGen
TOPMed
gnomAD
TCGA novel 95 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA380241081
rs1228060508
95 K>Q No ClinGen
TOPMed
gnomAD
CA5963872
rs752932186
97 Y>F No ClinGen
ExAC
gnomAD
CA380241029
rs752932186
97 Y>S No ClinGen
ExAC
gnomAD
CA221614373
rs750157272
102 A>D No ClinGen
ExAC
gnomAD
CA5963869
rs750157272
102 A>G No ClinGen
ExAC
gnomAD
rs758248044
CA380240937
102 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA5963870
COSM3721248
rs758248044
102 A>T upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA380240920
rs1458794885
103 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 105 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1474008642
CA380240824
106 D>G No ClinGen
gnomAD
CA380240747
rs1163844623
110 A>G No ClinGen
gnomAD
CA221614370
rs7107481
112 D>G No ClinGen
Ensembl
rs760203100
CA5963864
114 V>M No ClinGen
ExAC
gnomAD
rs1590682525
CA380240657
115 V>G No ClinGen
Ensembl
CA380240660
rs1304057880
115 V>L No ClinGen
TOPMed
CA380240602
rs1218549689
118 A>T No ClinGen
TOPMed
COSM1353945
rs1247534212
CA380240567
120 V>I Variant assessed as Somatic; 4.645e-05 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
TCGA novel 122 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA380240491
rs1189270594
124 L>I No ClinGen
gnomAD
rs1264165213
CA380240448
125 I>M No ClinGen
gnomAD
CA380240369
rs1590682491
129 D>A No ClinGen
Ensembl
CA380240355
rs1206223846
130 R>C No ClinGen
TOPMed
CA380240338
rs1322638523
130 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA221614368
rs200652468
133 C>S No ClinGen
Ensembl
TCGA novel 133 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1248283
rs201519376
CA5963860
134 V>I Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 135 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1590682478
CA380240264
135 T>P No ClinGen
Ensembl
CA5963859
rs560953877
139 T>I No ClinGen
1000Genomes
ExAC
gnomAD
CA380240170
rs1488045482
140 Y>F No ClinGen
TOPMed
CA380240137
rs1283543341
141 P>L No ClinGen
gnomAD
rs756211061
CA5963856
143 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM3809272
rs200330011
CA5963857
143 R>W Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA380240077
rs1336722245
144 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA221614366
rs202019933
146 T>A No ClinGen
Ensembl
rs1389730903
CA380240021
147 K>E No ClinGen
TOPMed
gnomAD
CA380239952
rs1421613137
149 A>S No ClinGen
TOPMed
TCGA novel 150 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs377675362
CA221614365
151 L>V No ClinGen
ESP
CA5963854
rs781520551
155 A>T No ClinGen
ExAC
gnomAD
CA5963853
rs755134398
155 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 157 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 161 F>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM927190
CA380239663
rs1248863002
162 V>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA380239630
rs1203431490
163 L>I No ClinGen
gnomAD
CA380239555
COSM378960
rs1366560671
165 A>V lung [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1345095427
CA380239503
167 A>T No ClinGen
gnomAD
rs1215759352
CA380239253
175 V>A No ClinGen
TOPMed
CA380239272
rs1337809445
175 V>M No ClinGen
TOPMed
TCGA novel 177 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1309986933
CA380239188
178 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA380239173
rs759941649
179 T>K No ClinGen
TOPMed
gnomAD
CA221614364
rs759941649
179 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA380239126
rs1590682346
182 D>A No ClinGen
Ensembl
CA5963845
rs200356632
COSM927189
182 D>N endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA380239128
rs200356632
182 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA5963844
rs201622884
183 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA221614362
rs926243747
184 Q>K No ClinGen
gnomAD
rs771285784
CA5963842
184 Q>R No ClinGen
ExAC
gnomAD
rs1590682312
CA380238850
192 N>T No ClinGen
Ensembl
CA5963840
rs773742760
194 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA380238762
rs1590682294
196 T>P No ClinGen
Ensembl
rs1434307119
CA380238724
197 F>C No ClinGen
gnomAD
rs781119753
CA5963837
201 I>T No ClinGen
ExAC
rs970284643
CA221614359
204 F>Y No ClinGen
Ensembl
CA380238561
rs1590682272
205 Y>S No ClinGen
Ensembl
TCGA novel 208 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA221614357
rs866426141
212 T>M Variant assessed as Somatic; 4.685e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1590682237
CA380238301
219 S>P No ClinGen
Ensembl
rs1286308322
CA380238273
220 L>R No ClinGen
gnomAD
rs1590682230
CA380237340
221 A>P No ClinGen
Ensembl
CA380237326
rs1227572969
222 S>G No ClinGen
gnomAD
CA5963832
rs573081535
223 R>C No ClinGen
1000Genomes
ExAC
gnomAD
CA380237310
rs1289982482
223 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1393401639
CA380237278
225 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5963831
rs777896843
225 R>Q No ClinGen
ExAC
gnomAD
rs756095049
CA5963830
226 V>A No ClinGen
ExAC
gnomAD
CA380237272
rs1302363424
226 V>I No ClinGen
gnomAD
rs752305893
CA5963829
228 K>N No ClinGen
ExAC
gnomAD
CA380237205
rs1157657810
229 H>N No ClinGen
gnomAD
rs766929725
CA380237201
229 H>P No ClinGen
ExAC
gnomAD
rs766929725
CA5963828
229 H>R No ClinGen
ExAC
gnomAD
COSM1734637
rs200893796
CA221614355
230 R>Q pancreas [Cosmic] No ClinGen
cosmic curated
gnomAD
rs759016833
CA5963827
230 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs200034949
CA5963825
232 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373521340
CA221614353
233 G>S No ClinGen
ESP
gnomAD
CA5963822
rs369478387
234 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5963823
rs369478387
234 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5963824
rs763352627
234 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA380237141
rs763352627
234 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs990694285
CA221614352
236 E>D No ClinGen
TOPMed
gnomAD
CA5963819
rs201595336
236 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747060606
CA5963818
238 K>Q No ClinGen
ExAC
gnomAD
CA221614351
rs200827665
241 T>M No ClinGen
gnomAD
TCGA novel 242 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1590682099
CA380236996
243 A>D No ClinGen
Ensembl
rs1187890206
CA380236969
245 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs756140306
CA5963813
246 K>E No ClinGen
ExAC
gnomAD
CA221614350
rs199753428
247 S>G No ClinGen
Ensembl
CA380236942
rs1175923532
247 S>N No ClinGen
TOPMed
rs1207851140
CA380236881
252 Q>R No ClinGen
gnomAD
CA380236866
rs1265804471
253 S>T No ClinGen
gnomAD
CA5963809
rs200034468
254 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5963808
rs201531893
258 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1439235885
CA380236796
259 P>A No ClinGen
gnomAD
rs200794425
CA5963805
260 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1390550536
CA380236749
261 E>D No ClinGen
gnomAD
TCGA novel 261 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762182416
CA5963804
262 A>V No ClinGen
ExAC
gnomAD
rs201837786
CA380236731
263 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA5963802
rs201837786
COSM3397704
263 A>T central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA5963801
rs760707328
264 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs201253128
CA5963800
264 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201253128
CA5963799
264 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs760707328
CA380236722
264 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs774645111
CA5963797
265 E>G No ClinGen
ExAC
gnomAD
CA5963798
rs199960135
265 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs769487194
CA5963796
266 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs747938778
CA5963795
268 R>C No ClinGen
ExAC
gnomAD
CA380236667
rs1224372919
268 R>H No ClinGen
gnomAD
rs1565104182
CA380236630
271 K>E No ClinGen
Ensembl
CA221614349
rs888669602
273 E>A No ClinGen
TOPMed
gnomAD
rs754924877
CA5963793
273 E>D No ClinGen
ExAC
gnomAD
CA5963792
rs746584106
275 A>V No ClinGen
ExAC
gnomAD
CA5963791
rs779535719
276 P>L No ClinGen
ExAC
gnomAD
CA380236561
rs1565104171
276 P>S No ClinGen
Ensembl
rs201805055
CA5963790
277 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs201805055
CA380236540
277 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5963789
rs201805055
277 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA5963784
rs757593109
279 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA380236493
rs1407109914
281 P>S No ClinGen
gnomAD
TCGA novel 281 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM927187
rs201205429
CA5963783
282 P>L endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1307085161
CA380236476
282 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA380236453
rs1284043223
283 P>L No ClinGen
TOPMed
TCGA novel 283 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA221614344
rs200784550
284 P>L No ClinGen
1000Genomes
TOPMed
gnomAD
rs552730458
CA5963780
285 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs767705653
CA5963779
285 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA380236416
rs1250784152
286 P>L No ClinGen
gnomAD
CA380236393
rs1275266692
287 V>E No ClinGen
gnomAD
rs533484145
CA5963776
287 V>M No ClinGen
ExAC
gnomAD
rs1198755309
CA380236254
295 E>G No ClinGen
gnomAD
rs1284416766
CA380236211
299 G>S No ClinGen
gnomAD
CA221614343
rs992834187
300 S>N No ClinGen
TOPMed
gnomAD
CA221614342
rs779899442
300 S>R No ClinGen
Ensembl
TCGA novel 300 S>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 303 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs567060019
CA5963773
304 N>D No ClinGen
1000Genomes
ExAC
gnomAD
CA380236092
rs1429419052
307 E>D No ClinGen
TOPMed
rs746953631
CA5963772
308 R>C No ClinGen
ExAC
gnomAD
CA5963771
rs779910035
308 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA380236044
rs1413340341
310 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA380235984
rs1421121419
315 T>N No ClinGen
TOPMed
CA5963769
rs745344508
316 T>P No ClinGen
ExAC
gnomAD
CA380235966
rs1410183047
317 E>K No ClinGen
TOPMed
rs1234781787
CA380235943
318 A>S No ClinGen
gnomAD
CA380235904
rs1441861022
320 T>M No ClinGen
TOPMed
gnomAD
CA380235896
rs1206163369
321 P>T No ClinGen
gnomAD
CA5963764
rs201272067
322 A>S No ClinGen
1000Genomes
ExAC
gnomAD
rs201272067
CA5963765
322 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA380235868
rs1339955805
322 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1271995958
CA380235849
323 M>I No ClinGen
TOPMed
CA380235860
rs753267557
323 M>L No ClinGen
ExAC
TOPMed
gnomAD
COSM1238507
rs753267557
CA5963763
323 M>V oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1340390603
CA380235837
324 P>S No ClinGen
TOPMed
COSM340341
rs952822213
CA221614340
325 A>T lung [Cosmic] No ClinGen
cosmic curated
TOPMed
CA5963761
rs759733224
326 P>L No ClinGen
ExAC
gnomAD
CA380235799
rs1282006055
326 P>S No ClinGen
gnomAD
CA5963760
rs199709266
327 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199709266
CA221614339
327 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1490931827
CA380235792
327 P>S No ClinGen
TOPMed
rs763235994
CA5963758
328 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs763235994
CA380235782
328 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs997356160
CA380235764
CA221614338
329 Q>H No ClinGen
TOPMed
gnomAD
COSM239326
rs1159673748
CA380235748
330 P>L Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs200850651
CA380235744
331 R>G No ClinGen
TOPMed
gnomAD
CA5963756
COSM542744
rs199586286
331 R>P lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA5963755
rs199586286
331 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM927183
CA221614337
rs200850651
331 R>W Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA380235701
rs1175131873
334 N>K No ClinGen
Ensembl
TCGA novel 334 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 335 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1565103983
CA380235670
336 A>V No ClinGen
Ensembl
CA221614336
rs1007911460
338 R>G No ClinGen
gnomAD
CA380235653
rs1243872011
338 R>K No ClinGen
gnomAD
CA380235592
rs745430456
341 K>M No ClinGen
ExAC
TOPMed
gnomAD
CA5963752
rs745430456
341 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs377125659
CA5963751
344 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1216974790
CA380235523
345 V>L No ClinGen
gnomAD
CA221614335
rs191392166
346 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5963750
rs191392166
346 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1227427518
CA380235485
347 K>N No ClinGen
gnomAD
TCGA novel 348 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA380235462
rs200571918
349 T>K No ClinGen
ExAC
gnomAD
rs200571918
CA5963748
349 T>R No ClinGen
ExAC
gnomAD
rs1455811105
CA380235463
349 T>S No ClinGen
Ensembl
CA380235447
rs1364383290
350 G>D No ClinGen
TOPMed
gnomAD
rs756567031
CA5963747
350 G>S No ClinGen
ExAC
gnomAD
rs753069194
CA221614333
351 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1362060729
CA380235411
352 E>D No ClinGen
TOPMed
CA380235406
rs1247092670
353 C>S No ClinGen
TOPMed
CA380235401
rs1347939321
353 C>Y No ClinGen
gnomAD
rs1049106481
CA221614332
356 A>S No ClinGen
TOPMed
TCGA novel 358 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781777462
CA5963745
359 I>T No ClinGen
ExAC
gnomAD
rs1424284498
CA380235314
360 V>M No ClinGen
gnomAD
rs755530650
CA5963744
362 A>V No ClinGen
ExAC
gnomAD
rs201134515
CA5963743
363 T>M No ClinGen
1000Genomes
ExAC
gnomAD
CA5963741
rs200255240
364 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs200255240
CA5963742
364 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA221614329
rs948830893
364 P>S No ClinGen
Ensembl
rs201677925
CA5963739
367 M>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5963738
rs760504636
368 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs201538954
CA5963737
368 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA380235250
COSM1127787
rs760504636
368 R>S prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA5963735
rs200461648
370 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA221614328
rs938936253
372 N>D No ClinGen
Ensembl
rs1340920341
CA380235211
372 N>S No ClinGen
gnomAD
rs375771904
CA5963732
373 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA5963730
rs769549870
375 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781689933
CA5963729
375 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA5963728
rs781689933
375 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA380235153
rs750280509
378 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs750280509
CA5963726
COSM927182
378 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1171199868
CA380235124
381 A>T No ClinGen
gnomAD
rs373404528
CA221614327
382 R>C No ClinGen
ESP
gnomAD
CA380235111
rs1423637928
382 R>H No ClinGen
gnomAD
CA5963723
rs750441178
384 Q>E No ClinGen
ExAC
gnomAD
CA380235086
rs1309036260
384 Q>H No ClinGen
TOPMed
rs202126623
CA221614326
386 R>C No ClinGen
TOPMed
gnomAD
CA5963722
rs201099319
386 R>H No ClinGen
ExAC
gnomAD
rs767304246
CA5963719
389 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1205956341
CA380235043
389 R>W No ClinGen
gnomAD
CA380235007
rs1300432545
392 A>V No ClinGen
gnomAD
CA5963717
rs376964131
393 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5963716
rs376964131
393 A>V Variant assessed as Somatic; 0.0001858 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA380234993
rs772586917
394 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1395969075
CA380234992
394 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs772586917
CA5963714
394 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1183798605
CA380234979
395 E>D No ClinGen
TOPMed
CA5963713
rs769639848
396 R>C No ClinGen
ExAC
gnomAD
CA221614325
rs200901598
400 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
COSM229776
CA5963706
rs746016944
411 L>F Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA5963705
rs370900717
414 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 417 N>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200588248
CA5963702
COSM927181
418 V>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 420 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 426 C>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA221614322
rs199633583
433 T>M No ClinGen
TOPMed
gnomAD
rs1377116100
CA380234388
434 V>L No ClinGen
gnomAD
CA380234333
rs1408859644
439 Y>* No ClinGen
gnomAD
rs761358369
CA5963695
444 V>I No ClinGen
ExAC
gnomAD
CA221614321
rs201891549
446 S>G No ClinGen
1000Genomes
CA380234123
rs1207899036
460 F>L No ClinGen
gnomAD
TCGA novel 464 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1262238805
CA380234065
COSM927177
465 R>Q endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs200267035
CA5963689
465 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 466 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA380234025
rs1305842856
470 C>R No ClinGen
gnomAD
COSM3397703
rs201159443
CA5963686
473 R>Q Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201602666
CA5963687
473 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA5963683
rs751439550
476 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs758155756
CA5963681
477 T>I No ClinGen
ExAC
gnomAD
CA380233945
rs1384147923
478 A>D No ClinGen
gnomAD
rs1375548060
CA380233940
479 R>G No ClinGen
gnomAD

No associated diseases with P08173

3 regional properties for P08173

Type Name Position InterPro Accession
domain Zinc finger, RING-type 546 - 586 IPR001841
domain Zinc finger, RING-CH-type 546 - 586 IPR011016
domain TRC8-like, N-terminal domain 20 - 516 IPR025754

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane; Multi-pass membrane protein
  • Postsynaptic cell membrane; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
anchoring junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
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.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic membrane A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane.
synapse The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

3 GO annotations of molecular function

Name Definition
G protein-coupled acetylcholine receptor activity Combining with acetylcholine 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.
G protein-coupled serotonin receptor activity Combining with the biogenic amine serotonin and transmitting the signal across the membrane by activating an associated G-protein. Serotonin (5-hydroxytryptamine) is a neurotransmitter and hormone found in vertebrates and invertebrates.
neurotransmitter receptor activity Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity.

7 GO annotations of biological process

Name Definition
adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway An adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway initiated by acetylcholine binding to its receptor, and ending with the regulation of a downstream cellular process.
cell surface receptor signaling pathway The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
chemical synaptic transmission The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
G protein-coupled acetylcholine receptor signaling pathway A G protein-coupled receptor signaling pathway initiated by a ligand binding to an acetylcholine receptor on the surface of a target cell, and ends with regulation of a downstream cellular process, e.g. transcription.
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation or inhibition of a nucleotide cyclase activity and a subsequent change in the concentration of a cyclic nucleotide.
regulation of locomotion Any process that modulates the frequency, rate or extent of locomotion of a cell or organism.
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.

28 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P30546 HRH1 Histamine H1 receptor Bos taurus (Bovine) PR
P41984 CHRM3 Muscarinic acetylcholine receptor M3 Bos taurus (Bovine) PR
P41985 CHRM2 Muscarinic acetylcholine receptor M2 Bos taurus (Bovine) PR
P49578 CHRM3 Muscarinic acetylcholine receptor M3 Gallus gallus (Chicken) PR
P30372 CHRM2 Muscarinic acetylcholine receptor M2 Gallus gallus (Chicken) PR
P17200 CHRM4 Muscarinic acetylcholine receptor M4 Gallus gallus (Chicken) PR
Q5IS53 CHRM5 Muscarinic acetylcholine receptor M5 Pan troglodytes (Chimpanzee) PR
P08172 CHRM2 Muscarinic acetylcholine receptor M2 Homo sapiens (Human) PR
P08912 CHRM5 Muscarinic acetylcholine receptor M5 Homo sapiens (Human) PR
P20309 CHRM3 Muscarinic acetylcholine receptor M3 Homo sapiens (Human) PR
P35367 HRH1 Histamine H1 receptor Homo sapiens (Human) PR
P08908 HTR1A 5-hydroxytryptamine receptor 1A Homo sapiens (Human) PR
Q9H3N8 HRH4 Histamine H4 receptor Homo sapiens (Human) PR
P11229 CHRM1 Muscarinic acetylcholine receptor M1 Homo sapiens (Human) PR
P70174 Hrh1 Histamine H1 receptor Mus musculus (Mouse) PR
P12657 Chrm1 Muscarinic acetylcholine receptor M1 Mus musculus (Mouse) PR
Q9ERZ3 Chrm3 Muscarinic acetylcholine receptor M3 Mus musculus (Mouse) PR
P32211 Chrm4 Muscarinic acetylcholine receptor M4 Mus musculus (Mouse) PR
Q920H4 Chrm5 Muscarinic acetylcholine receptor M5 Mus musculus (Mouse) PR
Q9ERZ4 Chrm2 Muscarinic acetylcholine receptor M2 Mus musculus (Mouse) PR
P04761 CHRM1 Muscarinic acetylcholine receptor M1 Sus scrofa (Pig) PR
P31390 Hrh1 Histamine H1 receptor Rattus norvegicus (Rat) PR
P08483 Chrm3 Muscarinic acetylcholine receptor M3 Rattus norvegicus (Rat) PR
P08482 Chrm1 Muscarinic acetylcholine receptor M1 Rattus norvegicus (Rat) PR
P08911 Chrm5 Muscarinic acetylcholine receptor M5 Rattus norvegicus (Rat) PR
P56489 CHRM1 Muscarinic acetylcholine receptor M1 Macaca mulatta (Rhesus macaque) PR
P56490 CHRM5 Muscarinic acetylcholine receptor M5 Macaca mulatta (Rhesus macaque) PR
Q9U7D5 gar-3 Muscarinic acetylcholine receptor gar-3 Caenorhabditis elegans PR
10 20 30 40 50 60
MANFTPVNGS SGNQSVRLVT SSSHNRYETV EMVFIATVTG SLSLVTVVGN ILVMLSIKVN
70 80 90 100 110 120
RQLQTVNNYF LFSLACADLI IGAFSMNLYT VYIIKGYWPL GAVVCDLWLA LDYVVSNASV
130 140 150 160 170 180
MNLLIISFDR YFCVTKPLTY PARRTTKMAG LMIAAAWVLS FVLWAPAILF WQFVVGKRTV
190 200 210 220 230 240
PDNQCFIQFL SNPAVTFGTA IAAFYLPVVI MTVLYIHISL ASRSRVHKHR PEGPKEKKAK
250 260 270 280 290 300
TLAFLKSPLM KQSVKKPPPG EAAREELRNG KLEEAPPPAL PPPPRPVADK DTSNESSSGS
310 320 330 340 350 360
ATQNTKERPA TELSTTEATT PAMPAPPLQP RALNPASRWS KIQIVTKQTG NECVTAIEIV
370 380 390 400 410 420
PATPAGMRPA ANVARKFASI ARNQVRKKRQ MAARERKVTR TIFAILLAFI LTWTPYNVMV
430 440 450 460 470
LVNTFCQSCI PDTVWSIGYW LCYVNSTINP ACYALCNATF KKTFRHLLLC QYRNIGTAR