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

14 structures for P25103

Entry ID Method Resolution Chain Position Source
2KS9 NMR - A 1-364 PDB
2KSA NMR - A 1-364 PDB
2KSB NMR - A 1-364 PDB
6E59 X-ray 340 A PDB
6HLL X-ray 327 A PDB
6HLO X-ray 240 A PDB
6HLP X-ray 220 A PDB
7P00 EM 271 A R 1-335 PDB
7P02 EM 287 A R 1-335 PDB
7RMG EM 300 A R 1-407 PDB
7RMH EM 310 A R 1-407 PDB
7RMI EM 320 A R 1-407 PDB
8U26 EM 250 A R 1-407 PDB
AF-P25103-F1 Predicted AlphaFoldDB

342 variants for P25103

Variant ID(s) Position Change Description Diseaes Association Provenance
CA50556531
rs1003492126
2 D>N No ClinGen
Ensembl
rs1341473373
CA347436286
3 N>D No ClinGen
gnomAD
rs200221211
CA1732282
3 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA1732281
rs752537876
5 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs765041152
CA347436266
6 P>L No ClinGen
ExAC
gnomAD
CA1732280
rs765041152
6 P>R No ClinGen
ExAC
gnomAD
rs145997324
CA1732279
7 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA50556522
rs199617380
8 D>E No ClinGen
TOPMed
rs1407474432
CA347436245
10 D>H No ClinGen
TOPMed
gnomAD
CA50556515
rs201426785
12 S>Y No ClinGen
Ensembl
rs776049144
CA1732277
13 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1732275
rs765949130
14 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA347436221
rs765949130
14 N>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1187713805
CA347436201
17 T>A No ClinGen
gnomAD
CA1732274
rs79405056
20 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA50556504
rs79405056
20 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA50556489
rs897077411
23 N>S No ClinGen
gnomAD
rs748575268
CA1732271
24 Q>K No ClinGen
ExAC
CA347436126
rs1314449865
28 P>S No ClinGen
Ensembl
rs1395207852
CA347436119
29 A>D No ClinGen
TOPMed
gnomAD
CA347436121
rs1323400882
29 A>P No ClinGen
TOPMed
gnomAD
CA347436122
rs1323400882
29 A>T No ClinGen
TOPMed
gnomAD
rs1041501890
CA50556464
30 W>L No ClinGen
TOPMed
gnomAD
rs200409378
COSM196257
CA50556461
31 Q>K large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
CA1732270
rs774680314
32 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1289844570
CA347436091
33 V>A No ClinGen
gnomAD
rs1332338004
CA347436094
33 V>F No ClinGen
gnomAD
TCGA novel 34 L>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs202111284
CA50556453
34 L>I No ClinGen
Ensembl
CA1732269
rs768808935
35 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA1732268
rs749494089
37 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs769294302
CA50556429
38 A>V No ClinGen
TOPMed
gnomAD
rs780098587
CA1732267
40 T>R No ClinGen
ExAC
gnomAD
CA1732266
rs756238660
41 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA347436047
rs756238660
41 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA1732265
rs745879026
42 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA1732264
rs777925661
43 V>A No ClinGen
ExAC
gnomAD
CA347436031
rs267599465
44 V>L No ClinGen
TOPMed
rs267599465
CA50556420
44 V>M No ClinGen
TOPMed
CA1732263
rs758398511
45 T>N No ClinGen
ExAC
gnomAD
CA1732261
rs765098258
47 V>L No ClinGen
ExAC
gnomAD
rs765098258
CA1732262
47 V>M No ClinGen
ExAC
gnomAD
CA1732260
rs754693735
48 V>A No ClinGen
ExAC
gnomAD
CA1732259
rs142157446
49 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1732258
rs142157446
49 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147650877
CA1732257
51 V>M No ClinGen
ESP
ExAC
TOPMed
rs768067224
CA1732255
52 V>L No ClinGen
ExAC
gnomAD
CA347435964
rs1176919257
55 W>* No ClinGen
TOPMed
TCGA novel 55 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 56 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA50556381
rs914457277
58 L>S No ClinGen
TOPMed
rs769096225
CA347435937
59 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA1732252
rs769096225
59 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs201437956
CA1732250
65 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA347435891
rs769905459
65 T>I No ClinGen
ExAC
gnomAD
CA1732249
rs769905459
65 T>R No ClinGen
ExAC
gnomAD
TCGA novel 66 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1732248
rs759108653
73 N>Y No ClinGen
ExAC
TOPMed
gnomAD
rs200411690
CA1732247
74 L>V No ClinGen
ExAC
gnomAD
rs202095119
CA347435831
75 A>P No ClinGen
gnomAD
CA50556352
rs202095119
75 A>S No ClinGen
gnomAD
rs1321606135
CA347435819
77 A>T No ClinGen
gnomAD
rs1362305026
CA347435803
79 A>T No ClinGen
gnomAD
rs200986020
CA1732244
80 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA1732242
rs754819440
81 M>K No ClinGen
ExAC
gnomAD
CA1732243
rs754819440
81 M>R No ClinGen
ExAC
gnomAD
CA50556317
rs78575827
82 A>T No ClinGen
Ensembl
CA347435780
rs1461673972
83 A>S No ClinGen
TOPMed
CA347435779
rs1452463250
83 A>V No ClinGen
gnomAD
rs201404494
CA1732240
85 N>S No ClinGen
ExAC
gnomAD
CA1732239
rs755746629
86 T>A No ClinGen
ExAC
gnomAD
CA50556285
rs200083063
86 T>I No ClinGen
gnomAD
rs1558591285
CA347435755
87 V>A No ClinGen
Ensembl
rs888248509
CA50556248
87 V>M No ClinGen
Ensembl
CA1732238
rs749939739
88 V>G No ClinGen
ExAC
gnomAD
rs1232793733
CA347435741
89 N>K No ClinGen
gnomAD
CA347435731
rs1572997809
91 T>P No ClinGen
Ensembl
CA50556233
rs111831416
92 Y>C No ClinGen
TOPMed
gnomAD
CA347435725
rs1368013417
92 Y>D No ClinGen
gnomAD
CA347435721
rs111831416
92 Y>F No ClinGen
TOPMed
gnomAD
rs140963123
CA50556226
93 A>V No ClinGen
ESP
TOPMed
CA347435703
rs1304883917
95 H>R No ClinGen
gnomAD
CA347435696
rs1572997782
96 N>S No ClinGen
Ensembl
rs373848086
CA1732236
97 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA892986717
rs1293328591
99 Y>* No ClinGen
TOPMed
CA1732235
rs202089843
COSM1023121
99 Y>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764449198
CA347435662
100 Y>* No ClinGen
ExAC
TOPMed
rs763443404
CA1732233
101 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs151061456
CA1732232
102 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 103 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1732229
rs759800948
104 Y>* No ClinGen
ExAC
gnomAD
rs1202200719
CA347435630
105 C>* No ClinGen
TOPMed
CA347435634
rs1481803235
105 C>G No ClinGen
TOPMed
CA1732228
rs776956813
107 F>S No ClinGen
ExAC
gnomAD
rs139625218
CA347435598
109 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA347435601
rs1485777217
109 N>S No ClinGen
TOPMed
gnomAD
CA1732226
rs747030959
110 F>S No ClinGen
ExAC
gnomAD
rs6715729
CA347435584
111 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1252414158
CA347435577
112 P>H No ClinGen
gnomAD
rs200803720
CA1732224
113 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA347435575
rs1227340812
113 I>V No ClinGen
gnomAD
CA1732223
COSM1023120
rs749162463
114 A>T Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA1732220
rs750106834
115 A>T No ClinGen
ExAC
gnomAD
rs1356527081
CA347435557
116 V>A No ClinGen
TOPMed
CA1732219
rs780773392
116 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA50556144
rs199510054
118 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199510054
CA1732218
118 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 118 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347435544
rs1168480920
118 A>V No ClinGen
gnomAD
CA1732217
rs750965713
120 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 122 S>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA50556132
rs867276009
122 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA347435515
rs1166692591
123 M>V No ClinGen
TOPMed
gnomAD
CA1732216
rs138993766
124 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1732215
rs138993766
124 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA347435503
rs1455015693
125 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA347435490
rs753146275
127 A>S No ClinGen
ExAC
gnomAD
CA1732214
rs753146275
127 A>T No ClinGen
ExAC
gnomAD
CA347435472
rs1483790281
129 D>E No ClinGen
gnomAD
rs77755890
CA50556108
129 D>Y No ClinGen
Ensembl
rs1332840486
CA347434650
131 Y>* No ClinGen
gnomAD
CA347434642
rs1251737582
132 M>I No ClinGen
TOPMed
CA1732187
rs761903018
135 I>T No ClinGen
ExAC
gnomAD
rs1572941730
CA347434585
138 L>P No ClinGen
Ensembl
rs775302960
CA1732186
139 Q>* No ClinGen
ExAC
gnomAD
CA1732183
rs776389041
141 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA50504668
rs756232781
141 R>W No ClinGen
Ensembl
CA347434551
rs1157559025
142 L>V No ClinGen
gnomAD
rs770612891
CA1732182
144 A>D No ClinGen
ExAC
gnomAD
CA50504659
rs375620736
144 A>S No ClinGen
ESP
TOPMed
gnomAD
rs375620736
CA347434526
144 A>T No ClinGen
ESP
TOPMed
gnomAD
rs746672619
CA1732181
149 V>A No ClinGen
ExAC
gnomAD
rs1057106168
CA50504652
150 V>A No ClinGen
Ensembl
rs1558559971
CA347434436
151 I>L No ClinGen
Ensembl
rs777435415
CA1732180
152 C>S No ClinGen
ExAC
gnomAD
rs757863219
CA1732179
152 C>W No ClinGen
ExAC
gnomAD
CA347434419
rs777435415
152 C>Y No ClinGen
ExAC
gnomAD
rs779632430
CA1732177
153 V>D No ClinGen
ExAC
gnomAD
CA1732178
rs201913449
153 V>L No ClinGen
ExAC
gnomAD
rs1449279785
CA347434375
156 V>F No ClinGen
gnomAD
rs372730735
CA50504635
158 A>V No ClinGen
ESP
rs1203612862
CA347434315
161 L>M No ClinGen
gnomAD
rs138737257
CA50504618
162 A>V No ClinGen
ESP
TOPMed
gnomAD
rs1477329809
CA347434269
164 P>L No ClinGen
TOPMed
rs1234984839
CA347434252
166 G>S No ClinGen
gnomAD
rs1170694030
CA347434218
168 Y>C No ClinGen
TOPMed
CA347434207
rs1375156597
169 S>A No ClinGen
TOPMed
rs1301081718
CA347434199
170 T>A No ClinGen
TOPMed
gnomAD
rs754300079
CA1732175
171 T>R No ClinGen
ExAC
gnomAD
TCGA novel 174 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1732171
rs767720428
174 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA1732172
rs750632743
174 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA50504588
rs199793484
175 P>R No ClinGen
1000Genomes
rs1173750677
CA347434096
177 R>K No ClinGen
gnomAD
CA1732169
rs199687081
179 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs150873497
CA1732170
COSM1641987
179 V>M stomach [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
CA347434063
rs1296466317
180 C>R No ClinGen
TOPMed
rs765209335
CA1732168
181 M>K No ClinGen
ExAC
gnomAD
CA347434009
rs561350321
182 I>M No ClinGen
TOPMed
gnomAD
CA1732167
rs759439782
183 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1191366654
CA347433988
184 W>R No ClinGen
gnomAD
TCGA novel 185 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200026957
CA1732166
186 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs114919074
CA1732164
188 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1732162
rs771754437
190 K>R No ClinGen
ExAC
gnomAD
CA1732159
rs201688433
192 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1732160
rs778539969
192 Y>F No ClinGen
ExAC
gnomAD
CA1732161
VAR_026826
rs200685841
192 Y>H display properties similar to those of the wild-type receptor [UniProt] No ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1356998578
CA347433840
194 K>N No ClinGen
gnomAD
CA50442791
rs200650399
196 Y>* No ClinGen
TOPMed
CA50442781
rs78869449
201 T>A No ClinGen
gnomAD
TCGA novel 201 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771674417
CA347435405
202 V>L No ClinGen
ExAC
gnomAD
rs771674417
CA1732145
202 V>M No ClinGen
ExAC
gnomAD
TCGA novel 205 Y>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1732142
rs746915919
212 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA347435338
rs1480311822
213 G>S No ClinGen
gnomAD
rs200262291
CA50442724
214 Y>* No ClinGen
1000Genomes
TOPMed
gnomAD
CA347435329
rs1232249282
214 Y>C No ClinGen
gnomAD
rs199593242
CA50442752
214 Y>H No ClinGen
TOPMed
CA1732141
rs748748122
215 A>V No ClinGen
ExAC
gnomAD
rs199512420
CA1732137
218 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200932811
CA1732138
218 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1732139
rs200932811
218 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757523905
CA1732136
219 V>A No ClinGen
ExAC
gnomAD
CA1732134
rs201060197
221 I>M No ClinGen
ExAC
gnomAD
CA50442632
rs200179878
221 I>T No ClinGen
Ensembl
rs758481738
CA1732133
222 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1460165420
CA347435277
224 W>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1021820513
CA50442616
225 A>D No ClinGen
TOPMed
gnomAD
rs967509938
CA50442617
225 A>T No ClinGen
Ensembl
rs1021820513
CA347435267
COSM1669095
225 A>V lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA50442612
rs779156313
226 S>T No ClinGen
Ensembl
CA347435254
rs1160030771
227 E>G No ClinGen
gnomAD
rs201835779
CA50442583
230 G>E No ClinGen
Ensembl
rs1011770323
CA50442585
230 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1455513856
CA347435231
231 D>Y No ClinGen
gnomAD
rs750222579
CA1732128
232 S>A No ClinGen
ExAC
gnomAD
CA1732127
rs767373067
232 S>Y No ClinGen
ExAC
gnomAD
CA1732125
rs774156041
235 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA347435206
rs774156041
235 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs201281474
CA1732124
235 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA347435207
rs774156041
235 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs762618882
CA1732123
236 Y>S No ClinGen
ExAC
gnomAD
CA1732121
rs200225041
CA1732120
237 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs776956215
CA1732119
238 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA1732117
rs148906237
240 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs148906237
CA347435173
240 V>D No ClinGen
ExAC
TOPMed
gnomAD
rs771299689
CA1732118
240 V>F No ClinGen
ExAC
gnomAD
CA50442468
rs779651637
244 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs779023517
CA1732113
244 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA1732114
rs779023517
244 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA50440873
rs1007761974
248 K>I No ClinGen
Ensembl
rs1467966283
CA347435093
250 M>I No ClinGen
gnomAD
rs1010786840
CA50440872
250 M>V No ClinGen
TOPMed
gnomAD
TCGA novel 251 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1160245395
CA347435088
251 I>T No ClinGen
TOPMed
rs199946496
CA50440871
252 V>A No ClinGen
gnomAD
TCGA novel 252 V>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1732097
rs17838409
253 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1732096
rs17838409
253 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA347435076
rs1434484641
254 V>M No ClinGen
TOPMed
CA347435057
rs1260610193
256 T>I No ClinGen
gnomAD
CA347435062
rs1573455687
256 T>P No ClinGen
Ensembl
rs748429716
CA1732094
258 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA347435039
rs1199292536
259 I>T No ClinGen
gnomAD
CA1732093
rs778949548
259 I>V No ClinGen
ExAC
gnomAD
CA347435035
rs1176440954
260 C>S No ClinGen
TOPMed
gnomAD
CA1732092
rs146827057
266 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA1732091
rs749256520
267 F>S No ClinGen
ExAC
gnomAD
rs1178932778
CA347434970
269 L>F No ClinGen
gnomAD
CA347434967
rs1573455649
269 L>P No ClinGen
Ensembl
CA1732089
rs757245314
273 I>L No ClinGen
ExAC
gnomAD
rs201925544
CA50440813
274 N>H No ClinGen
Ensembl
rs1480830612
CA347434933
275 P>A No ClinGen
gnomAD
CA347434913
rs1236754173
278 Y>H No ClinGen
TOPMed
gnomAD
CA347434884
rs1354959900
282 F>L No ClinGen
gnomAD
rs1318186099
CA347434872
283 I>T No ClinGen
TOPMed
TCGA novel 285 Q>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777679973
CA1732087
285 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs1398553369
CA347434843
287 Y>S No ClinGen
TOPMed
gnomAD
rs892485171
CA50440806
288 L>M No ClinGen
Ensembl
rs752408117
CA1732085
291 M>I No ClinGen
ExAC
gnomAD
CA1732086
rs758218510
291 M>T No ClinGen
ExAC
gnomAD
rs1421203675
CA347434815
292 W>R No ClinGen
gnomAD
TCGA novel 294 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1732083
rs759153892
299 M>T No ClinGen
ExAC
gnomAD
CA50440777
rs200700901
300 Y>H No ClinGen
Ensembl
TCGA novel 303 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1732080
rs565696241
303 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
rs201272146
CA1732078
304 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772444222
CA1732077
304 I>N No ClinGen
ExAC
gnomAD
CA347434718
rs1195715045
306 C>R No ClinGen
TOPMed
gnomAD
CA347434693
rs1349182372
309 N>S No ClinGen
TOPMed
CA347434686
rs1208142304
310 D>G No ClinGen
TOPMed
gnomAD
CA1732074
rs768753495
310 D>Y No ClinGen
ExAC
gnomAD
CA1732053
CA50439827
rs770008587
311 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA1732052
rs745877085
313 R>C No ClinGen
ExAC
gnomAD
CA1732051
rs148591370
313 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771891340
CA1732050
314 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA50439786
rs943880556
316 F>L No ClinGen
TOPMed
CA1732048
rs778544609
317 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA50439778
rs144236507
318 H>P No ClinGen
ESP
CA1732047
rs754766562
319 A>D No ClinGen
ExAC
gnomAD
CA347434516
rs754766562
319 A>V No ClinGen
ExAC
gnomAD
CA1732044
rs755621824
321 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1732045
rs371933483
321 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199619032
CA50439771
323 C>* No ClinGen
TOPMed
gnomAD
TCGA novel 325 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347434431
rs1447820377
326 I>N No ClinGen
gnomAD
TCGA novel 327 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs78966502
CA1732041
328 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200415478
CA1732039
329 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1732037
rs200032946
330 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA50439745
rs201129412
331 Y>C No ClinGen
gnomAD
rs1383935038
CA347434365
331 Y>H No ClinGen
TOPMed
rs200374832
CA50439716
332 E>K No ClinGen
gnomAD
CA347434328
rs1424374012
334 L>M No ClinGen
TOPMed
CA347434324
rs1297138677
334 L>R No ClinGen
gnomAD
rs1314065780
CA347434268
338 S>F No ClinGen
gnomAD
rs1304150939
CA347434274
338 S>P No ClinGen
TOPMed
rs573144142
COSM3380221
CA1732033
340 R>Q pancreas [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs776833375
CA1732034
340 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA50439677
rs368651206
342 L>F No ClinGen
ESP
CA347434196
rs1191759604
344 T>P No ClinGen
gnomAD
CA1732030
rs202219935
347 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA1732029
rs749012386
348 V>L No ClinGen
ExAC
gnomAD
CA347434149
rs749012386
348 V>M No ClinGen
ExAC
gnomAD
rs1311284373
CA347434136
349 Y>C No ClinGen
TOPMed
CA1732028
rs779746590
351 V>G No ClinGen
ExAC
gnomAD
CA50439629
rs1034430892
351 V>I No ClinGen
TOPMed
rs201228266
CA1732027
352 S>N No ClinGen
ExAC
gnomAD
CA50439620
rs904268415
352 S>R No ClinGen
TOPMed
gnomAD
rs374522374
CA1732026
353 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371093415
CA1732025
353 R>H No ClinGen
ESP
ExAC
gnomAD
rs374522374
CA347434089
353 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1732024
rs199913774
354 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs1216381612
CA347434065
355 E>D No ClinGen
gnomAD
TCGA novel 355 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752029294
CA1732023
357 T>P No ClinGen
ExAC
gnomAD
CA1732021
rs545676777
361 V>A No ClinGen
ExAC
gnomAD
rs150773283
CA1732017
365 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758900745
CA1732019
365 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs200902232
CA1732016
366 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA50439605
rs200079158
367 E>A No ClinGen
Ensembl
rs201920133
CA50439602
368 E>D No ClinGen
Ensembl
CA1732015
rs776875476
369 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA347433908
rs776875476
369 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs760755179
CA347433859
372 G>D No ClinGen
ExAC
gnomAD
rs1460839935
CA347433862
372 G>S No ClinGen
TOPMed
CA1732013
COSM315764
rs760755179
372 G>V lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA347433851
rs1438224982
373 P>H No ClinGen
TOPMed
gnomAD
rs1438224982
CA347433849
373 P>L No ClinGen
TOPMed
gnomAD
CA1732011
rs768630359
376 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs768630359
CA347433821
376 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs749136258
CA1732010
377 P>T No ClinGen
ExAC
gnomAD
CA1732009
rs140559234
378 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA347433788
rs1376327678
381 D>V No ClinGen
gnomAD
CA347433775
rs1281842470
383 T>I No ClinGen
TOPMed
gnomAD
rs1281842470
CA347433776
383 T>S No ClinGen
TOPMed
gnomAD
CA1732006
rs780848437
384 S>C No ClinGen
ExAC
gnomAD
CA1732007
rs745548764
384 S>P No ClinGen
ExAC
gnomAD
rs1463284392
CA347433766
385 N>S No ClinGen
gnomAD
CA50439570
rs200756266
387 S>T No ClinGen
gnomAD
CA1732003
rs778203444
389 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA1732004
rs778203444
389 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA50439552
COSM1690736
rs199512029
389 R>Q Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA1732001
rs779454541
390 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA1732000
rs779454541
390 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA50439534
rs200318180
391 D>H No ClinGen
ExAC
gnomAD
rs200318180
CA1731999
391 D>N No ClinGen
ExAC
gnomAD
CA1731998
rs754025280
393 K>E No ClinGen
ExAC
gnomAD
TCGA novel 394 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347433712
rs1176548618
394 T>N No ClinGen
gnomAD
CA347433707
rs1558535594
395 M>T No ClinGen
Ensembl
rs1553370620
CA1731996
395 M>V No ClinGen
Ensembl
rs1469600968
CA347433696
396 T>I No ClinGen
gnomAD
rs760729846
CA1731994
399 F>L No ClinGen
ExAC
gnomAD
CA347433658
rs1319442150
401 F>L No ClinGen
gnomAD
rs145317978
CA50439522
404 N>S No ClinGen
ESP
TOPMed
gnomAD
rs200290815
CA50439516
407 S>P No ClinGen
Ensembl
CA347433619
rs1192958701
408 S>Q No ClinGen
TOPMed

No associated diseases with P25103

1 regional properties for P25103

Type Name Position InterPro Accession
domain GPCR, rhodopsin-like, 7TM 49 - 305 IPR017452

Functions

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

9 GO annotations of cellular component

Name Definition
cell body The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections.
cell surface The external part of the cell wall and/or plasma membrane.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
sperm flagellum A microtubule-based flagellum (or cilium) that is part of a sperm, a mature male germ cell that develops from a spermatid.
sperm head The part of the late spermatid or spermatozoon that contains the nucleus and acrosome.
sperm midpiece The highly organized segment of the sperm flagellum which begins at the connecting piece and is characterized by the presence of 9 outer dense fibers (ODFs) that lie outside each of the 9 outer axonemal microtubule doublets and by a sheath of mitochondria that encloses the ODFs and the axoneme; the midpiece terminates about one-fourth of the way down the sperm flagellum at the annulus, which marks the beginning of the principal piece.

2 GO annotations of molecular function

Name Definition
substance P receptor activity Combining with substance P, the peptide Arg-Pro-Lys-Pro-Gln-Gln-Phe-Phe-Gly-Leu-Met, to initiate a change in cell activity.
tachykinin receptor activity Combining with a tachykinin neuropeptide and transmitting the signal across the membrane by activating an associated G-protein.

44 GO annotations of biological process

Name Definition
acute inflammatory response Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response.
aggressive behavior A behavioral interaction between organisms in which one organism has the intention of inflicting physical damage on another individual.
angiotensin-mediated drinking behavior The drinking behavior that is mediated by the action of angiotensin in the brain. Angiotensin stimulates the brain centers that control thirst.
associative learning Learning by associating a stimulus (the cause) with a particular outcome (the effect).
behavioral response to pain Any process that results in a change in the behavior of an organism as a result of a pain stimulus. Pain stimuli cause activation of nociceptors, peripheral receptors for pain, include receptors which are sensitive to painful mechanical stimuli, extreme heat or cold, and chemical stimuli.
detection of abiotic stimulus The series of events in which an (non-living) abiotic stimulus is received by a cell and converted into a molecular signal.
eating behavior The specific behavior of an organism relating to the intake of food, any substance (usually solid) that can be metabolized by an organism to give energy and build tissue.
inflammatory response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
long-term memory The memory process that deals with the storage, retrieval and modification of information a long time (typically weeks, months or years) after receiving that information. This type of memory is typically dependent on gene transcription regulated by second messenger activation.
operant conditioning Learning to anticipate future events on the basis of past experience with the consequences of one's own behavior.
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).
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 blood pressure Any process in which the force of blood traveling through the circulatory system is increased.
positive regulation of cytosolic calcium ion concentration Any process that increases the concentration of calcium ions in the cytosol.
positive regulation of epithelial cell migration Any process that activates or increases the frequency, rate or extent of epithelial cell migration.
positive regulation of epithelial cell proliferation Any process that activates or increases the rate or extent of epithelial cell proliferation.
positive regulation of flagellated sperm motility Any process that activates or increases the frequency, rate or extent of flagellated sperm motility.
positive regulation of hormone secretion Any process that activates or increases the frequency, rate or extent of the regulated release of a hormone from a cell.
positive regulation of leukocyte migration Any process that activates or increases the frequency, rate, or extent of leukocyte migration.
positive regulation of lymphocyte proliferation Any process that activates or increases the rate or extent of lymphocyte proliferation.
positive regulation of ossification Any process that activates or increases the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance.
positive regulation of renal sodium excretion Any process that increases the amount of sodium excreted in urine over a unit of time.
positive regulation of saliva secretion Any process that activates or increases the frequency, rate or extent of the regulated release of saliva.
positive regulation of stress fiber assembly Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.
positive regulation of synaptic transmission, cholinergic Any process that activates, maintains or increases the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine.
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 uterine smooth muscle contraction Any process that increases the frequency, rate or extent of uterine smooth muscle contraction.
positive regulation of vascular permeability Any process that increases the extent to which blood vessels can be pervaded by fluid.
positive regulation of vasoconstriction Any process that activates or increases the frequency, rate or extent of vasoconstriction.
regulation of smooth muscle cell migration Any process that modulates the frequency, rate or extent of smooth muscle cell migration.
regulation of smooth muscle cell proliferation Any process that modulates the frequency, rate or extent of smooth muscle cell proliferation.
response to auditory 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 an auditory stimulus.
response to electrical 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 an electrical stimulus.
response to estradiol 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 stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen.
response to ethanol 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 an ethanol stimulus.
response to heat 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 heat stimulus, a temperature stimulus above the optimal temperature for that organism.
response to morphine 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 morphine stimulus. Morphine is an opioid alkaloid, isolated from opium, with a complex ring structure.
response to nicotine 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 nicotine stimulus.
response to ozone 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 ozone stimulus.
response to progesterone 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 progesterone stimulus.
sensory perception of pain The series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. Pain is medically defined as the physical sensation of discomfort or distress caused by injury or illness, so can hence be described as a harmful stimulus which signals current (or impending) tissue damage. Pain may come from extremes of temperature, mechanical damage, electricity or from noxious chemical substances. This is a neurological process.
smooth muscle contraction involved in micturition The process leading to shortening and/or development of tension in the urinary bladder smooth muscle tissue involved in the expulsion urine from the body.
sperm ejaculation The expulsion of seminal fluid, thick white fluid containing spermatozoa, from the male genital tract.
tachykinin receptor signaling pathway A G protein-coupled receptor signaling pathway initiated by tachykinin binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process. Tachykinin is a short peptide with the terminal sequence (Phe-X-Gly-Leu-Met-NH2).

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5DUB3 TACR1 Substance-P receptor Canis lupus familiaris (Dog) (Canis familiaris) PR
P29371 TACR3 Neuromedin-K receptor Homo sapiens (Human) PR
P47937 Tacr3 Neuromedin-K receptor Mus musculus (Mouse) PR
P30548 Tacr1 Substance-P receptor Mus musculus (Mouse) PR
10 20 30 40 50 60
MDNVLPVDSD LSPNISTNTS EPNQFVQPAW QIVLWAAAYT VIVVTSVVGN VVVMWIILAH
70 80 90 100 110 120
KRMRTVTNYF LVNLAFAEAS MAAFNTVVNF TYAVHNEWYY GLFYCKFHNF FPIAAVFASI
130 140 150 160 170 180
YSMTAVAFDR YMAIIHPLQP RLSATATKVV ICVIWVLALL LAFPQGYYST TETMPSRVVC
190 200 210 220 230 240
MIEWPEHPNK IYEKVYHICV TVLIYFLPLL VIGYAYTVVG ITLWASEIPG DSSDRYHEQV
250 260 270 280 290 300
SAKRKVVKMM IVVVCTFAIC WLPFHIFFLL PYINPDLYLK KFIQQVYLAI MWLAMSSTMY
310 320 330 340 350 360
NPIIYCCLND RFRLGFKHAF RCCPFISAGD YEGLEMKSTR YLQTQGSVYK VSRLETTIST
370 380 390 400
VVGAHEEEPE DGPKATPSSL DLTSNCSSRS DSKTMTESFS FSSNVLS