P35367
PR
Gene name |
HRH1 |
Protein name |
Histamine H1 receptor |
Names |
H1R, HH1R |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3269 |
EC number |
|
Protein Class |
|
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
3 structures for P35367
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3RZE | X-ray | 310 A | PDB | ||
| 7DFL | EM | 330 A | R | 1-487 | PDB |
| AF-P35367-F1 | Predicted | AlphaFoldDB |
389 variants for P35367
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA351468628 rs1252702713 |
3 | L>F | No |
ClinGen gnomAD |
|
|
CA69508289 rs975975361 |
4 | P>L | No |
ClinGen Ensembl |
|
|
CA351468636 rs1445020716 |
4 | P>S | No |
ClinGen TOPMed |
|
|
CA2255362 rs757741379 |
5 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2255365 rs201929250 |
10 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351468717 rs201929250 |
10 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453398929 CA351468762 |
12 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA351468752 rs1373011918 |
12 | D>G | No |
ClinGen gnomAD |
|
|
CA2255366 rs776093978 |
12 | D>N | No |
ClinGen ExAC TOPMed |
|
|
RCV000908376 rs79314450 CA2255368 |
14 | M>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs747854682 CA2255367 |
14 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2255370 rs762598800 |
18 | N>H | No |
ClinGen ExAC gnomAD |
|
|
RCV000973020 VAR_049410 rs2067466 CA2255371 |
19 | K>N | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA69508324 rs199843421 |
20 | T>S | No |
ClinGen Ensembl |
|
|
rs1373002939 CA351468951 |
21 | T>A | No |
ClinGen gnomAD |
|
|
rs1225910445 CA351468965 |
21 | T>I | No |
ClinGen gnomAD |
|
|
rs138669404 CA2255372 |
22 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA69508327 rs1052918272 |
23 | A>V | No |
ClinGen TOPMed |
|
|
rs759187040 CA2255373 |
24 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767366937 CA2255374 |
24 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752822820 CA2255375 |
25 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA351469073 rs752822820 |
25 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA351469084 rs1559288504 |
26 | Q>* | No |
ClinGen Ensembl |
|
|
CA2255377 rs764351640 |
26 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1559288513 CA351469137 |
28 | M>I | No |
ClinGen Ensembl |
|
|
rs200695584 CA351469146 |
29 | P>A | No |
ClinGen gnomAD |
|
|
CA69508348 rs200695584 |
29 | P>S | No |
ClinGen gnomAD |
|
|
CA2255378 rs753904763 |
31 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1575048782 CA351469213 |
32 | V>G | No |
ClinGen Ensembl |
|
|
rs750958376 CA2255381 |
34 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 35 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351469280 rs1194099717 |
36 | T>A | No |
ClinGen TOPMed |
|
|
CA351469293 rs1460451581 |
37 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA351469363 rs1164929592 |
40 | V>F | No |
ClinGen gnomAD |
|
|
CA351469413 rs1183740056 |
44 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA69508376 rs199645631 |
47 | L>R | No |
ClinGen Ensembl |
|
|
CA2255385 rs769546559 |
48 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1310473551 CA351469522 |
50 | Y>C | No |
ClinGen gnomAD |
|
|
CA2255386 rs777624852 |
50 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2255389 rs558735895 |
52 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs558735895 CA351469589 |
52 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2255391 rs61738990 |
53 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2255390 rs759549068 |
53 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1269997941 CA351469648 |
54 | S>R | No |
ClinGen TOPMed |
|
|
rs200606524 CA2255393 |
56 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs199822532 CA2255392 |
56 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754067331 CA351469758 CA2255395 |
57 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA351469787 rs1475135222 |
59 | H>Y | No |
ClinGen gnomAD |
|
|
CA69508419 rs201720863 |
60 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA351469821 rs1559288595 |
60 | T>I | No |
ClinGen Ensembl |
|
|
rs148511138 CA2255397 |
62 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2255398 rs750850791 |
63 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1575048964 CA351469939 |
65 | Y>S | No |
ClinGen Ensembl |
|
|
rs755459830 CA351469979 |
66 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2255401 rs751938427 |
66 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2255403 rs189376051 |
67 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201217782 COSM1308401 CA2255404 |
70 | S>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA69508455 rs113526786 |
71 | V>M | No |
ClinGen TOPMed |
|
|
CA69508461 rs867429393 |
72 | A>E | No |
ClinGen gnomAD |
|
|
CA69508464 rs867429393 |
72 | A>V | No |
ClinGen gnomAD |
|
|
rs370754604 CA2255408 COSM1417700 |
76 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 78 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200571067 CA2255410 |
79 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1408273754 CA351470281 COSM1036443 |
80 | V>I | endometrium Variant assessed as Somatic; 4.654e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1420443296 CA351470344 |
83 | M>V | No |
ClinGen gnomAD |
|
|
CA2255412 rs143882995 |
85 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1446369801 CA351470409 |
87 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2255413 rs762049812 |
90 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1223515172 CA351470437 |
90 | M>V | No |
ClinGen TOPMed |
|
|
rs1314618326 CA351470477 |
92 | K>R | No |
ClinGen gnomAD |
|
|
CA351470541 rs1377411585 |
97 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs139664451 CA2255414 |
97 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1377411585 CA351470536 |
97 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2255415 rs773317083 |
99 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs201052869 CA69508496 |
101 | L>F | No |
ClinGen Ensembl |
|
|
CA69508491 rs201052869 |
101 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 103 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559288700 CA351470654 |
104 | L>I | No |
ClinGen Ensembl |
|
|
CA351470657 rs1559288700 |
104 | L>V | No |
ClinGen Ensembl |
|
|
rs1559288709 CA351470705 |
107 | D>G | No |
ClinGen Ensembl |
|
|
rs1376009394 CA351470713 |
108 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA69508504 rs888850725 |
113 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs888850725 CA351470744 |
113 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA351470746 rs1467356932 |
113 | A>V | No |
ClinGen TOPMed |
|
|
rs200335907 CA69508511 |
117 | S>N | No |
ClinGen Ensembl |
|
|
rs146441347 CA2255418 |
118 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA69508518 rs988244308 |
119 | F>L | No |
ClinGen TOPMed |
|
|
rs561686936 CA69508521 |
121 | L>P | No |
ClinGen Ensembl |
|
|
COSM1692390 CA351470823 rs200787735 |
125 | R>C | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs200787735 CA69508527 |
125 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1575049181 CA351470832 |
126 | Y>S | No |
ClinGen Ensembl |
|
|
CA2255420 rs755335412 |
127 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768016566 CA2255421 |
127 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA351470867 rs1189069353 |
132 | P>T | No |
ClinGen gnomAD |
|
|
CA2255424 rs756949319 |
133 | L>F | No |
ClinGen ExAC TOPMed |
|
|
rs201480303 CA2255425 |
134 | R>M | No |
ClinGen ExAC |
|
|
rs1559288770 CA351470934 |
138 | Y>C | No |
ClinGen Ensembl |
|
|
rs199720564 CA2255428 |
139 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200817909 CA2255429 |
139 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351470951 rs1575049242 |
140 | T>P | No |
ClinGen Ensembl |
|
|
CA351470983 rs1281295419 |
142 | T>I | No |
ClinGen TOPMed |
|
|
rs1575049256 CA351470977 |
142 | T>P | No |
ClinGen Ensembl |
|
|
CA351470988 rs201661278 |
143 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA2255431 rs201661278 |
143 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM419450 rs181783018 CA2255432 |
143 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs773371879 COSM445316 CA2255434 |
145 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 146 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2255437 rs774949528 |
147 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA351471042 rs1575049294 |
148 | I>L | No |
ClinGen Ensembl |
|
|
rs199824154 CA69508589 |
150 | G>R | No |
ClinGen Ensembl |
|
|
rs745428387 CA351471075 |
151 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs745428387 CA2255438 |
151 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs768188413 CA2255439 |
153 | F>S | No |
ClinGen ExAC |
|
|
rs201175841 CA69508604 |
154 | L>P | No |
ClinGen Ensembl |
|
|
rs1156900925 CA351471161 |
158 | W>* | No |
ClinGen TOPMed |
|
|
rs1273145792 CA351471173 |
159 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1308725859 CA351471194 |
160 | I>T | No |
ClinGen gnomAD |
|
|
CA2255442 rs764878884 |
164 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA351471290 rs1468590052 |
165 | W>* | No |
ClinGen gnomAD |
|
|
CA351471300 rs1238363649 |
165 | W>* | No |
ClinGen Ensembl |
|
|
rs1559288855 CA351471352 |
167 | H>R | No |
ClinGen Ensembl |
|
|
CA351471404 rs1559288868 |
169 | M>R | No |
ClinGen Ensembl |
|
|
CA351471395 rs1475067802 |
169 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM4005227 CA2255445 rs779465629 |
173 | S>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs372280874 CA2255447 |
174 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201947424 CA2255448 |
175 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200066638 CA2255449 COSM1209971 |
175 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2255451 rs202225736 |
176 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749494331 CA2255452 COSM1036448 |
176 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2255453 rs771002490 |
177 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351471558 rs1230924473 |
178 | D>N | No |
ClinGen gnomAD |
|
|
rs867815221 CA69508649 |
181 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 182 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312224571 CA351471655 |
182 | T>R | No |
ClinGen TOPMed |
|
|
rs772703987 CA2255456 |
184 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA69508656 rs919505801 |
185 | Y>C | No |
ClinGen TOPMed |
|
|
rs919505801 CA351471710 |
185 | Y>S | No |
ClinGen TOPMed |
|
|
CA2255457 rs776147714 |
188 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA351471763 rs776147714 |
188 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA351471792 rs1474152955 |
190 | F>L | No |
ClinGen gnomAD |
|
|
rs375923402 CA2255458 |
194 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2255459 rs138120998 |
196 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351471941 rs1475680341 |
198 | N>S | No |
ClinGen gnomAD |
|
|
rs1165198569 CA351471978 |
200 | Y>C | No |
ClinGen gnomAD |
|
|
rs866471816 CA69508670 |
201 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 203 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347473828 CA351472016 |
203 | T>S | No |
ClinGen gnomAD |
|
|
CA2255462 rs549839858 |
205 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1277405200 CA351472095 |
209 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs201101191 CA2255464 |
209 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs781039020 CA2255465 |
210 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA351472146 rs1286029879 |
212 | K>R | No |
ClinGen gnomAD |
|
|
rs201575633 CA2255467 |
213 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766424758 CA69508698 |
216 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA351472224 rs1189954273 |
217 | V>A | No |
ClinGen gnomAD |
|
|
rs749156342 CA2255469 |
217 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2255471 rs779343203 |
218 | R>Q | Variant assessed as Somatic; 4.632e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA69508719 rs866821882 |
220 | H>Q | No |
ClinGen Ensembl |
|
|
CA2255472 rs745874985 |
220 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs201450416 CA2255473 |
222 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2255474 rs776088431 |
223 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2255476 rs145938098 |
224 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2255475 rs761114504 |
224 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351472355 rs1334828166 COSM255753 |
228 | N>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2255479 rs762299371 |
229 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA351472380 rs1281109347 |
230 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 230 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751220140 CA2255480 |
231 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1233549020 CA351472466 |
238 | K>E | No |
ClinGen gnomAD |
|
|
rs758990097 CA2255481 |
238 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2255484 rs755974855 |
242 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 242 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777824692 CA2255485 |
243 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs371209972 CA2255486 |
245 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351472575 rs374992714 |
246 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374992714 CA2255487 |
246 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201469326 CA69508768 |
247 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs199522994 CA69508772 |
247 | D>V | No |
ClinGen TOPMed |
|
|
rs201469326 CA351472580 |
247 | D>Y | No |
ClinGen Ensembl |
|
|
CA2255488 rs779218085 |
248 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA69508783 rs997203926 |
251 | P>A | No |
ClinGen Ensembl |
|
|
rs1165686244 CA351472655 |
253 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1030149189 CA69508805 |
253 | K>N | No |
ClinGen Ensembl |
|
|
CA351472733 rs1332933253 |
258 | E>A | No |
ClinGen gnomAD |
|
|
CA2255492 rs565395035 |
258 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs149582378 CA2255493 |
264 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351472785 rs1276807525 |
265 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs201785749 CA69508832 |
267 | A>D | No |
ClinGen Ensembl |
|
|
CA351472798 rs1315549803 |
267 | A>T | No |
ClinGen gnomAD |
|
|
rs1194674139 CA351472804 |
268 | G>R | No |
ClinGen gnomAD |
|
|
CA2255495 VAR_033476 rs7651620 |
270 | G>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2255494 rs777265672 |
270 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1249742576 CA351472824 |
271 | S>F | No |
ClinGen gnomAD |
|
|
rs200897870 CA69508841 |
272 | V>A | No |
ClinGen Ensembl |
|
|
CA2255496 rs201386658 |
276 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1370924443 CA351472912 |
278 | Q>R | No |
ClinGen TOPMed |
|
|
rs199954618 CA69508848 |
280 | P>A | No |
ClinGen TOPMed |
|
|
rs759218822 CA2255498 |
281 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs868266909 CA69508861 |
282 | E>K | No |
ClinGen Ensembl |
|
|
CA351473000 rs1253980738 |
285 | S>F | No |
ClinGen gnomAD |
|
|
CA2255500 rs373661540 |
286 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373661540 CA2255499 |
286 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2255502 rs763870311 |
288 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA351473053 rs1172104809 |
289 | F>L | No |
ClinGen gnomAD |
|
|
CA351473104 rs1391854935 |
293 | D>H | No |
ClinGen gnomAD |
|
|
CA2255505 rs757067380 |
294 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351473115 rs1460548316 |
294 | D>N | No |
ClinGen gnomAD |
|
|
CA2255504 rs757067380 |
294 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2255506 rs750280699 |
295 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1380517993 CA351473135 |
296 | E>K | No |
ClinGen gnomAD |
|
|
rs747059060 CA2255509 |
302 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs201586667 CA351473261 |
302 | C>R | No |
ClinGen gnomAD |
|
|
rs201586667 CA69508895 |
302 | C>S | No |
ClinGen gnomAD |
|
|
CA69508903 rs550578391 |
303 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351473292 rs1213269099 |
304 | P>S | No |
ClinGen gnomAD |
|
|
CA351473310 rs1318397548 |
306 | D>H | No |
ClinGen TOPMed |
|
|
rs1201527153 CA351473329 |
307 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs755092707 CA2255510 |
307 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs17855034 CA69508912 |
308 | V>E | No |
ClinGen Ensembl |
|
|
rs1489662183 CA351473348 |
309 | H>N | No |
ClinGen gnomAD |
|
|
rs1203959102 CA351473353 |
309 | H>P | No |
ClinGen gnomAD |
|
|
rs1489662183 CA351473350 |
309 | H>Y | No |
ClinGen gnomAD |
|
|
rs748713599 CA2255512 |
310 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA69508919 rs781496844 |
310 | M>L | No |
ClinGen ExAC |
|
|
rs1261641435 CA351473363 |
310 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs781496844 CA2255511 |
310 | M>V | No |
ClinGen ExAC |
|
|
CA69508927 rs970832725 |
312 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs970832725 CA351473383 |
312 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA351473394 rs1414968717 |
313 | A>T | No |
ClinGen gnomAD |
|
|
rs201210547 CA2255513 |
313 | A>V | Variant assessed as Somatic; 0.001017 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs926799643 CA69508936 |
316 | G>E | No |
ClinGen Ensembl |
|
|
rs149792165 CA2255515 |
317 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs952373329 CA69508943 |
317 | S>N | No |
ClinGen TOPMed |
|
|
CA351473440 rs1401568190 |
318 | S>G | No |
ClinGen TOPMed |
|
|
rs149683927 CA2255516 |
319 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477335045 CA351473471 |
320 | D>E | No |
ClinGen TOPMed |
|
|
rs556632912 CA2255517 |
320 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2255519 rs202025055 |
321 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760044224 CA2255518 |
321 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA351473480 rs1353621850 |
322 | V>I | No |
ClinGen gnomAD |
|
|
rs761808075 CA2255521 |
323 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147652731 CA2255523 |
324 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2255524 rs758339040 |
325 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs74840800 CA2255526 RCV000879637 |
326 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs201939588 CA2255525 |
326 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA69508980 rs933083496 |
328 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA351473557 rs1187966738 |
330 | Q>* | No |
ClinGen gnomAD |
|
|
rs1415526968 CA351473567 |
331 | L>I | No |
ClinGen gnomAD |
|
|
CA2255531 rs778319318 |
334 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs748268457 CA2255529 |
334 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748268457 CA2255530 |
334 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2255536 rs771339563 |
337 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2255535 rs201417298 |
337 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA69509015 rs947251630 |
339 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1381644621 CA351473646 |
340 | T>I | No |
ClinGen gnomAD |
|
|
rs779522657 CA2255538 |
340 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA351473674 rs1354835500 |
344 | S>N | No |
ClinGen gnomAD |
|
|
CA351473677 rs776180904 |
344 | S>R | No |
ClinGen ExAC gnomAD |
|
|
COSM236127 rs1559289460 CA351473683 |
345 | E>D | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs761463073 CA2255542 |
345 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769853466 CA2255543 |
345 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA2255544 rs773291493 |
346 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773291493 CA351473688 |
346 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2067467 CA69509062 |
349 | D>E | No |
ClinGen Ensembl |
|
|
CA2255545 RCV000953472 rs189287776 |
349 | D>H | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs189287776 CA351473705 |
349 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1053617010 CA69509065 |
350 | Q>E | No |
ClinGen Ensembl |
|
|
rs200547768 CA69509069 |
351 | M>I | No |
ClinGen Ensembl |
|
|
CA351473723 rs1479479507 |
351 | M>K | No |
ClinGen gnomAD |
|
|
rs368293498 CA2255547 |
353 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2255548 rs759775051 |
354 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA351473743 rs1559289502 |
354 | D>V | No |
ClinGen Ensembl |
|
|
rs2067468 CA351473759 |
356 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752760430 CA2255550 |
356 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA69509095 rs199638082 |
358 | F>S | No |
ClinGen gnomAD |
|
|
rs1360934206 CA351473768 |
358 | F>V | No |
ClinGen gnomAD |
|
|
CA351473778 rs1297807293 |
359 | S>F | No |
ClinGen gnomAD |
|
|
rs1377841613 CA351473780 |
360 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs778194662 CA2255553 |
360 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200928208 CA2255554 |
361 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779302732 CA2255556 |
363 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs141914966 CA2255555 |
363 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2255557 rs746264105 |
364 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 364 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280193907 CA351473802 |
364 | D>Y | No |
ClinGen gnomAD |
|
|
CA69509122 rs1021388147 |
366 | T>I | No |
ClinGen Ensembl |
|
|
rs1026402012 CA69509125 |
367 | T>P | No |
ClinGen TOPMed |
|
|
rs199528452 CA2255558 |
368 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441579851 CA351473833 |
369 | T>I | No |
ClinGen TOPMed |
|
|
rs781053918 CA351473842 |
371 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2255559 rs781053918 |
371 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA69509138 rs570917030 |
372 | G>R | No |
ClinGen TOPMed |
|
|
CA351473865 rs1458771591 |
374 | G>D | No |
ClinGen gnomAD |
|
|
CA2255561 rs200553830 |
377 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773238183 CA351473891 |
378 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773238183 CA2255562 |
378 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531444188 CA2255564 |
379 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2255563 rs180831997 |
379 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1401330931 CA351473905 |
381 | N>D | No |
ClinGen gnomAD |
|
|
CA351473910 rs1467341990 |
381 | N>K | No |
ClinGen gnomAD |
|
|
rs1446416839 CA351473914 |
382 | T>S | No |
ClinGen gnomAD |
|
|
rs111632894 CA69509152 |
383 | G>C | No |
ClinGen Ensembl |
|
|
rs1370695377 VAR_035761 CA351473933 COSM32387 |
385 | D>E | large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
rs200086906 CA69509156 |
385 | D>N | No |
ClinGen Ensembl |
|
|
rs759308272 CA2255566 |
386 | Y>H | No |
ClinGen ExAC |
|
|
CA2255567 rs767712047 |
388 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs200903220 CA69509175 |
388 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1340288225 CA351473960 |
389 | F>C | No |
ClinGen TOPMed |
|
|
rs959436489 CA69509180 |
390 | T>A | No |
ClinGen Ensembl |
|
|
rs1335266652 CA351473991 |
393 | R>S | No |
ClinGen TOPMed |
|
|
CA2255569 rs760694816 |
395 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201903123 CA2255571 |
395 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760694816 CA2255570 |
395 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1417701 CA69509201 rs138501310 |
396 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2255572 rs757757563 |
396 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2255573 rs138501310 |
396 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1386024730 CA351474011 |
397 | H>P | No |
ClinGen gnomAD |
|
|
CA351474022 rs1451951828 |
399 | R>G | No |
ClinGen gnomAD |
|
|
rs780939146 CA2255576 |
400 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2255577 rs747827655 |
401 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1240299259 CA351474037 |
401 | Y>H | No |
ClinGen gnomAD |
|
|
CA351474055 rs1424385747 |
404 | G>R | No |
ClinGen gnomAD |
|
|
rs1478955410 CA351474083 |
407 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA69509228 rs368549819 |
407 | M>V | No |
ClinGen ESP TOPMed |
|
|
rs777388414 CA2255579 |
409 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2255580 rs779665353 |
409 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA351474094 rs779665353 |
409 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs201053001 CA2255582 COSM1036454 |
410 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA69509251 rs201053001 |
410 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771876256 CA2255584 |
412 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs768357865 CA2255586 |
414 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764345719 CA2255587 |
415 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2255588 rs776676978 |
416 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA2255590 CA351474146 rs765705398 |
417 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281834604 CA351474179 |
422 | A>T | No |
ClinGen gnomAD |
|
|
CA2255591 rs199875751 |
422 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351474186 rs1264074316 |
423 | A>G | No |
ClinGen gnomAD |
|
|
CA351474187 rs1264074316 |
423 | A>V | No |
ClinGen gnomAD |
|
|
CA351474199 rs1285169454 |
425 | I>N | No |
ClinGen TOPMed |
|
|
rs1489311074 CA351474205 |
426 | L>F | No |
ClinGen gnomAD |
|
|
rs1051465876 CA69509301 |
427 | C>R | No |
ClinGen Ensembl |
|
|
rs1185815416 CA351474219 |
428 | W>* | No |
ClinGen gnomAD |
|
|
CA69509305 rs980381714 |
429 | I>T | No |
ClinGen TOPMed |
|
|
CA2255593 rs200892765 |
433 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2255594 rs202064669 |
437 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA2255596 rs777628910 |
438 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs200526115 CA2255595 |
438 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2255597 rs748826345 |
441 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs756731129 CA2255598 |
442 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA69509335 rs866105639 |
443 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 444 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2255599 rs778860317 |
445 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351474343 rs778860317 |
445 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2255600 rs745822737 |
446 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs772035847 CA2255601 |
446 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA69509350 rs943129167 |
448 | H>Q | No |
ClinGen gnomAD |
|
|
CA2255603 rs746862238 |
448 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA69509357 rs2067470 |
449 | L>S | No |
ClinGen Ensembl |
|
|
CA69509362 rs1054051013 |
451 | M>I | No |
ClinGen Ensembl |
|
|
rs1349671869 CA351474379 |
451 | M>V | No |
ClinGen gnomAD |
|
|
rs768856967 CA2255604 |
453 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2255605 rs776718675 |
455 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2255606 rs761898889 |
455 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs76689102 CA69509376 |
457 | G>C | No |
ClinGen Ensembl |
|
|
rs1208843546 CA351474420 |
457 | G>D | No |
ClinGen gnomAD |
|
|
rs1189851573 CA351474436 |
459 | I>S | No |
ClinGen gnomAD |
|
|
CA351474432 rs1443249383 |
459 | I>V | No |
ClinGen gnomAD |
|
|
CA351474439 rs1231583984 |
460 | N>D | No |
ClinGen gnomAD |
|
|
rs202100549 CA69509383 |
460 | N>S | No |
ClinGen Ensembl |
|
|
rs202100549 CA351474442 |
460 | N>T | No |
ClinGen Ensembl |
|
|
rs1159557243 CA351474460 |
463 | L>P | No |
ClinGen gnomAD |
|
|
rs1422630305 CA351474474 |
465 | P>L | No |
ClinGen TOPMed |
|
|
CA2255609 rs763526390 |
468 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA2255610 rs767043272 |
469 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415881003 CA351474498 |
469 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA351474510 rs1334740228 |
471 | C>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 473 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755461695 CA2255612 |
475 | F>S | No |
ClinGen ExAC |
|
|
rs774068490 CA69509401 |
476 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA351474567 rs1255532953 |
477 | K>N | No |
ClinGen gnomAD |
|
|
rs763773398 CA2255613 |
477 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1202465883 CA351474578 |
479 | F>I | No |
ClinGen gnomAD |
|
|
CA2255615 rs756750763 |
479 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs749997385 CA351474695 |
486 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2255617 rs749997385 |
486 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2255618 rs758315820 |
486 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351474708 rs1559289975 |
487 | S>F | No |
ClinGen Ensembl |
|
|
CA69509421 rs867228115 |
487 | S>P | No |
ClinGen Ensembl |
|
|
CA2255619 rs772839430 |
488 | S>K | No |
ClinGen ExAC gnomAD |
No associated diseases with P35367
1 regional properties for P35367
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GPCR, rhodopsin-like, 7TM | 44 - 468 | IPR017452 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| 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. |
| histamine receptor activity | Combining with histamine to initiate a change in cell activity. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans. |
| neurotransmitter receptor activity | Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to histamine | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a histamine stimulus. Histamine, the biogenic amine 2-(1H-imidazol-4-yl)ethanamine, is involved in local immune responses as well as regulating physiological function in the gut and acting as a neurotransmitter. |
| 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. |
| eosinophil chemotaxis | The movement of an eosinophil in response to an external stimulus. |
| 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. |
| 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. |
| 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. |
| inositol phosphate-mediated signaling | A intracellular signal transduction in which the signal is transmitted within the cell via an inositol phosphate. Includes production of the inositol phosphate, and downstream effectors that further transmit the signal within the cell. Inositol phosphates are a group of mono- to poly-phosphorylated inositols, and include inositol monophosphate (IP), inositol trisphosphate (IP3), inositol pentakisphosphate (IP5) and inositol hexaphosphate (IP6). |
| memory | The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task). |
| 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 inositol trisphosphate biosynthetic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of inositol trisphosphate. |
| positive regulation of vasoconstriction | Any process that activates or increases the frequency, rate or extent of vasoconstriction. |
| regulation of synaptic plasticity | A process that modulates synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers. |
| regulation of vascular permeability | Any process that modulates the extent to which blood vessels can be pervaded by fluid. |
| visual learning | Any process in an organism in which a change in behavior of an individual occurs in response to repeated exposure to a visual cue. |
28 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P41984 | CHRM3 | Muscarinic acetylcholine receptor M3 | Bos taurus (Bovine) | PR |
| P41985 | CHRM2 | Muscarinic acetylcholine receptor M2 | Bos taurus (Bovine) | PR |
| P30546 | HRH1 | Histamine H1 receptor | Bos taurus (Bovine) | PR |
| P17200 | CHRM4 | Muscarinic acetylcholine receptor M4 | Gallus gallus (Chicken) | PR |
| P49578 | CHRM3 | Muscarinic acetylcholine receptor M3 | Gallus gallus (Chicken) | PR |
| P30372 | CHRM2 | Muscarinic acetylcholine receptor M2 | Gallus gallus (Chicken) | PR |
| Q5IS53 | CHRM5 | Muscarinic acetylcholine receptor M5 | Pan troglodytes (Chimpanzee) | PR |
| P08172 | CHRM2 | Muscarinic acetylcholine receptor M2 | Homo sapiens (Human) | PR |
| P08173 | CHRM4 | Muscarinic acetylcholine receptor M4 | Homo sapiens (Human) | PR |
| P08912 | CHRM5 | Muscarinic acetylcholine receptor M5 | Homo sapiens (Human) | PR |
| P20309 | CHRM3 | Muscarinic acetylcholine receptor M3 | 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 |
| P32211 | Chrm4 | Muscarinic acetylcholine receptor M4 | Mus musculus (Mouse) | PR |
| P12657 | Chrm1 | Muscarinic acetylcholine receptor M1 | Mus musculus (Mouse) | PR |
| Q920H4 | Chrm5 | Muscarinic acetylcholine receptor M5 | Mus musculus (Mouse) | PR |
| Q9ERZ4 | Chrm2 | Muscarinic acetylcholine receptor M2 | Mus musculus (Mouse) | PR |
| Q9ERZ3 | Chrm3 | Muscarinic acetylcholine receptor M3 | Mus musculus (Mouse) | PR |
| P70174 | Hrh1 | Histamine H1 receptor | Mus musculus (Mouse) | PR |
| P04761 | CHRM1 | Muscarinic acetylcholine receptor M1 | Sus scrofa (Pig) | PR |
| P08911 | Chrm5 | Muscarinic acetylcholine receptor M5 | Rattus norvegicus (Rat) | PR |
| P08482 | Chrm1 | Muscarinic acetylcholine receptor M1 | Rattus norvegicus (Rat) | PR |
| P08483 | Chrm3 | Muscarinic acetylcholine receptor M3 | Rattus norvegicus (Rat) | PR |
| P31390 | Hrh1 | Histamine H1 receptor | Rattus norvegicus (Rat) | PR |
| P56490 | CHRM5 | Muscarinic acetylcholine receptor M5 | Macaca mulatta (Rhesus macaque) | PR |
| P56489 | CHRM1 | Muscarinic acetylcholine receptor M1 | Macaca mulatta (Rhesus macaque) | PR |
| Q9U7D5 | gar-3 | Muscarinic acetylcholine receptor gar-3 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSLPNSSCLL | EDKMCEGNKT | TMASPQLMPL | VVVLSTICLV | TVGLNLLVLY | AVRSERKLHT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VGNLYIVSLS | VADLIVGAVV | MPMNILYLLM | SKWSLGRPLC | LFWLSMDYVA | STASIFSVFI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LCIDRYRSVQ | QPLRYLKYRT | KTRASATILG | AWFLSFLWVI | PILGWNHFMQ | QTSVRREDKC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ETDFYDVTWF | KVMTAIINFY | LPTLLMLWFY | AKIYKAVRQH | CQHRELINRS | LPSFSEIKLR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PENPKGDAKK | PGKESPWEVL | KRKPKDAGGG | SVLKSPSQTP | KEMKSPVVFS | QEDDREVDKL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YCFPLDIVHM | QAAAEGSSRD | YVAVNRSHGQ | LKTDEQGLNT | HGASEISEDQ | MLGDSQSFSR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TDSDTTTETA | PGKGKLRSGS | NTGLDYIKFT | WKRLRSHSRQ | YVSGLHMNRE | RKAAKQLGFI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MAAFILCWIP | YFIFFMVIAF | CKNCCNEHLH | MFTIWLGYIN | STLNPLIYPL | CNENFKKTFK |
| RILHIRS |