AiPD: Autoinhibited Protein Database

P47900

Gene name	P2RY1
Protein name	P2Y purinoceptor 1
Names	P2Y1, ADP receptor, Purinergic receptor
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5028
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

316-373 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

316-373 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

4 structures for P47900

Entry ID	Method	Resolution	Chain	Position	Source
4XNV	X-ray	220 A			PDB
4XNW	X-ray	270 A			PDB
7XXH	EM	290 A	R	2-373	PDB
AF-P47900-F1	Predicted				AlphaFoldDB

249 variants for P47900

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs368489230 CA2672297	2	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763623919 CA2672300	4	V>G		No	ClinGen ExAC TOPMed gnomAD
CA2672299 rs773862077	4	V>L		No	ClinGen ExAC gnomAD
CA355023958 rs1445628491	6	W>C		No	ClinGen gnomAD
rs766553956 CA2672301	7	P>Q		No	ClinGen ExAC gnomAD
rs759773087 CA2672303	8	A>G		No	ClinGen ExAC TOPMed gnomAD
CA355023979 rs1198086009	10	P>R		No	ClinGen gnomAD
CA2672304 rs767663559	10	P>T		No	ClinGen ExAC gnomAD
CA86096561 rs1021641035 COSM1219053	11	N>S	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1185932281 CA355023999	13	T>R		No	ClinGen gnomAD
rs753619182 CA2672305	14	D>G		No	ClinGen ExAC gnomAD
rs1388412696 CA355024030	18	L>P		No	ClinGen gnomAD
CA355024037 rs1170322222	19	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA355024038 rs1357518973	20	G>S		No	ClinGen TOPMed
CA2672310 rs535974488	21	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2672311 rs746535957	21	P>L		No	ClinGen ExAC gnomAD
rs535974488 CA355024045	21	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2672313 rs780725124	22	G>D		No	ClinGen ExAC TOPMed gnomAD
CA2672312 rs754613341	22	G>S		No	ClinGen ExAC TOPMed gnomAD
CA2672315 rs770279634	24	S>F		No	ClinGen ExAC TOPMed gnomAD
CA2672314 rs748459639	24	S>P		No	ClinGen ExAC gnomAD
CA2672316 rs773771939	25	W>L		No	ClinGen ExAC TOPMed gnomAD
CA355024077 rs1576604048	27	N>D		No	ClinGen Ensembl
TCGA novel	27	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2672317 rs749790489	28	S>R		No	ClinGen ExAC
CA2672319 rs771382074	29	T>M		No	ClinGen ExAC TOPMed gnomAD
CA2672318 rs771382074	29	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1576604060 CA355024099	30	V>G		No	ClinGen Ensembl
CA2672321 rs767718507	30	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2672322 rs775577001	32	S>F		No	ClinGen ExAC gnomAD
CA2672323 rs760951934	33	T>A		No	ClinGen ExAC gnomAD
rs1395514800 CA355024115	33	T>I		No	ClinGen TOPMed
CA355024116 rs1208348905	34	A>T		No	ClinGen gnomAD
CA2672324 rs118182811	34	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA86096564 rs202164364	35	A>D		No	ClinGen Ensembl
CA2672325 rs144727670	35	A>P		No	ClinGen ESP ExAC gnomAD
CA355024125 rs1376963549	36	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs983108639 CA86096565	37	S>F		No	ClinGen gnomAD
CA355024147 rs1437706210	39	S>L		No	ClinGen gnomAD
rs1375946687 CA355024155	40	F>L		No	ClinGen TOPMed
rs1456573594 CA355024158	41	K>E		No	ClinGen gnomAD
CA2672328 rs766253716	41	K>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA355024160 rs766253716	41	K>R		No	ClinGen ExAC TOPMed gnomAD
CA355024159 rs766253716	41	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1390447442 CA355024163	42	C>S		No	ClinGen gnomAD
rs1452621423 CA355024171	43	A>S		No	ClinGen TOPMed
rs754452961 CA2672330	46	K>E		No	ClinGen ExAC gnomAD
CA355024198 rs1231724333	47	T>A		No	ClinGen gnomAD
CA355024207 rs1285510994	48	G>A		No	ClinGen gnomAD
rs1324710189 CA355024222	50	Q>R		No	ClinGen gnomAD
CA2672331 rs780823895	53	Y>C		No	ClinGen ExAC gnomAD
CA86096566 rs909149446	53	Y>H		No	ClinGen Ensembl
CA355024266 rs1203520078	57	V>L		No	ClinGen TOPMed
rs112737385 CA86096567	62	F>L		No	ClinGen Ensembl
CA355024307 rs1368743026	63	I>F		No	ClinGen Ensembl
CA355024312 rs1576604134	64	I>L		No	ClinGen Ensembl
rs200547630 CA86096568	64	I>M		No	ClinGen TOPMed gnomAD
rs1576604137 CA355024316	64	I>T		No	ClinGen Ensembl
CA355024336 rs1576604152	67	L>P		No	ClinGen Ensembl
rs1576604155 CA355024364	71	V>G		No	ClinGen Ensembl
rs1233058306 CA355024373	73	I>F		No	ClinGen TOPMed
CA355024378 rs1342278824	74	W>R		No	ClinGen TOPMed
rs1276041717 CA355024393	75	M>I		No	ClinGen TOPMed
CA2672334 rs778251623	77	V>A		No	ClinGen ExAC gnomAD
rs778251623 CA355024408	77	V>G		No	ClinGen ExAC gnomAD
rs1313468165 CA355024420	79	H>P		No	ClinGen gnomAD
CA86096570 rs267599658	80	M>I		No	ClinGen Ensembl
rs1156736180 CA355024427	80	M>L		No	ClinGen TOPMed gnomAD
rs1156736180 COSM94897 CA355024426	80	M>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA355024435 rs1576604180	81	K>Q		No	ClinGen Ensembl
rs1576604183 CA355024437	81	K>R		No	ClinGen Ensembl
rs1262111022 CA355024446	82	P>L		No	ClinGen TOPMed gnomAD
rs1576604191 CA355024448	83	W>R		No	ClinGen Ensembl
rs1454015182 CA355024460	84	S>N		No	ClinGen gnomAD
rs1576604203 CA355024484	88	V>L		No	ClinGen Ensembl
CA2672340 rs577890837	92	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA2672341 rs760860385	94	A>S		No	ClinGen ExAC gnomAD
CA355024528 rs760860385	94	A>T		No	ClinGen ExAC gnomAD
rs892310422 CA86096572	95	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	96	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	97	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	97	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1318903620 CA355024558	98	F>L		No	ClinGen gnomAD
rs1240039831 CA355024567	100	Y>H		No	ClinGen gnomAD
CA2672342 rs768901936	102	L>R		No	ClinGen ExAC gnomAD
TCGA novel	102	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762673615 CA355024591	104	L>V		No	ClinGen ExAC TOPMed gnomAD
CA355024610 rs1363773896	107	L>Q		No	ClinGen TOPMed
rs1482706201 CA355024619	109	F>I		No	ClinGen gnomAD
CA355024649 rs372649672 CA2672345	112	F>L		No	ClinGen ExAC TOPMed
rs200305170 CA2672346	113	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1252917102 CA355024668	115	T>I		No	ClinGen TOPMed
rs1366410129 CA355024727	123	M>T		No	ClinGen TOPMed gnomAD
CA355024757 rs1425977592	127	Q>R		No	ClinGen gnomAD
rs755787131 CA2672350	130	I>T		No	ClinGen ExAC TOPMed gnomAD
CA355024777 rs1440404008	130	I>V		No	ClinGen TOPMed
CA2672352 rs777590180	135	L>I		No	ClinGen ExAC gnomAD
CA2672351 rs777590180	135	L>V		No	ClinGen ExAC gnomAD
rs779398688 CA2672354	136	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs757564785 CA2672353	136	Y>N		No	ClinGen ExAC gnomAD
CA355024822 rs1427233135	137	G>S		No	ClinGen TOPMed gnomAD
rs746345449 CA355024835	138	S>R		No	ClinGen ExAC gnomAD
rs780073537 CA2672357	140	L>F		No	ClinGen ExAC gnomAD
rs375198144 CA2672356	140	L>V		No	ClinGen ESP ExAC gnomAD
rs1175866646 CA355024867	144	C>S		No	ClinGen gnomAD
TCGA novel	148	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776845491 CA355024905	149	R>W		No	ClinGen ExAC TOPMed
CA355024909 rs1576604289	150	Y>D		No	ClinGen Ensembl
rs192495664 CA86096576 COSM1638120	151	S>C	NS [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed
CA355024917 rs192495664	151	S>G		No	ClinGen 1000Genomes TOPMed
CA355024922 rs762164259	151	S>R		No	ClinGen ExAC TOPMed gnomAD
CA355024930 rs1387948621	153	V>M		No	ClinGen TOPMed
rs563160382 CA2672364	157	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs904143336 CA86096577	158	K>Q		No	ClinGen Ensembl
TCGA novel	161	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760274592 CA2672367	162	R>Q		No	ClinGen ExAC gnomAD
rs753534893 CA2672369	164	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1454794599 CA355025008	165	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs375587095 CA86096578	168	A>S		No	ClinGen ExAC TOPMed gnomAD
rs375587095 CA2672370	168	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA355025027 rs1445936218	168	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1226348649 CA355025031	169	I>V		No	ClinGen gnomAD
CA2672372 rs200067411	170	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1232204166 CA355025049	171	I>M		No	ClinGen gnomAD
rs758787142 CA2672373	171	I>T		No	ClinGen ExAC gnomAD
CA355025045 rs1210523527	171	I>V		No	ClinGen TOPMed
CA2672374 rs780556674	172	S>N		No	ClinGen ExAC gnomAD
rs113395101 CA86096579	173	V>A		No	ClinGen Ensembl
rs1462328963 CA355025057	173	V>M		No	ClinGen gnomAD
rs1329854609 CA355025063	174	L>V		No	ClinGen TOPMed
rs747027616 CA2672375	175	V>M		No	ClinGen ExAC gnomAD
CA2672377 rs781310294	179	V>M		No	ClinGen ExAC gnomAD
rs1576604352 CA355025110	181	V>G		No	ClinGen Ensembl
CA355025114 rs1187808593 COSM1420048	182	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs992262820 CA86096581	184	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1223591087 CA355025143	187	L>F		No	ClinGen gnomAD
rs763681322 CA2672385	193	G>A		No	ClinGen ExAC gnomAD
rs369758925 CA2672384	193	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs761337293 CA2672387	194	V>I		No	ClinGen ExAC gnomAD
rs1390080693 CA355025193	195	R>C		No	ClinGen TOPMed
CA355025194 COSM246323 rs1298828960	195	R>H	lung Variant assessed as Somatic; 0.0 impact. prostate [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1223946987 CA355025197	196	K>Q		No	ClinGen gnomAD
rs750699440 CA2672390	197	N>K		No	ClinGen ExAC TOPMed
CA86096583 rs1045138243	203	Y>*		No	ClinGen TOPMed gnomAD
CA2672393 rs766799328	203	Y>F		No	ClinGen ExAC gnomAD
CA2672394 rs752051086	208	D>G		No	ClinGen ExAC TOPMed gnomAD
rs755529820 CA86096584	209	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2672395 rs755529820	209	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA355025296 rs1481609593	210	Y>C		No	ClinGen gnomAD
TCGA novel	212	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355025307 rs1559896747 COSM445821	212	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA86096585 rs879119961	218	S>I		No	ClinGen Ensembl
rs748290743 CA2672397	219	M>V		No	ClinGen ExAC gnomAD
CA2672399 rs374496347	223	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	225	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355025396 rs533683001	225	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771986262 CA2672401	225	M>T		No	ClinGen ExAC gnomAD
CA2672400 rs533683001	225	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775481559 CA2672402	227	C>R		No	ClinGen ExAC gnomAD
CA2672403 rs746918384	227	C>S		No	ClinGen ExAC gnomAD
rs1559896774 CA355025418	228	V>F		No	ClinGen Ensembl
TCGA novel	231	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355025441 rs1559896788	232	L>V		No	ClinGen Ensembl
rs1320577323 CA355025489	239	L>S		No	ClinGen gnomAD
TCGA novel	240	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355025500 rs1559896795	241	V>M		No	ClinGen Ensembl
CA2672406 rs775959369	243	A>T		No	ClinGen ExAC gnomAD
rs1043566017 CA86096589	243	A>V		No	ClinGen TOPMed
rs1351985377 CA355025531	246	Y>H		No	ClinGen TOPMed
CA2672410 rs570268169	247	K>E		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	247	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2672412 rs751962514	249	L>V		No	ClinGen ExAC gnomAD
CA2672413 rs759997738	250	D>N		No	ClinGen ExAC gnomAD
rs768092598 CA2672414	250	D>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs140909048 CA2672415	252	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA355025574 rs1429501140	252	S>P		No	ClinGen TOPMed
TCGA novel	252	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756222432 CA2672416	253	P>S		No	ClinGen ExAC gnomAD
CA2672417 rs777781177	257	K>I		No	ClinGen ExAC TOPMed gnomAD
CA2672420 rs779961773	260	Y>F		No	ClinGen ExAC gnomAD
rs1378039171 CA355025636	262	V>L		No	ClinGen TOPMed gnomAD
CA2672422 rs768662077	267	T>I		No	ClinGen ExAC gnomAD
CA2672423 rs781198259	269	F>L		No	ClinGen ExAC gnomAD
rs748105517 CA2672424	270	A>T		No	ClinGen ExAC gnomAD
rs1489384401 CA355025690	271	V>M		No	ClinGen TOPMed
rs769335807 CA2672425	275	P>R		No	ClinGen ExAC gnomAD
CA2672426 rs772650351	277	H>R		No	ClinGen ExAC gnomAD
CA2672427 rs762563403	278	V>G		No	ClinGen ExAC gnomAD
TCGA novel rs1018621137 COSM174836 CA86096590	279	M>I	Variant assessed as Somatic; impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA ClinGen cosmic curated TOPMed
rs1203618532 CA355025740	279	M>L		No	ClinGen TOPMed
rs1472606351 CA355025744	279	M>T		No	ClinGen gnomAD
CA2672428 rs770603063	281	T>A		No	ClinGen ExAC gnomAD
TCGA novel	282	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1198699014 CA355025763	282	M>K		No	ClinGen gnomAD
rs759907754 CA2672430	282	M>V		No	ClinGen ExAC gnomAD
CA2672432 rs767844019	287	R>G		No	ClinGen ExAC TOPMed gnomAD
rs761142991 CA2672434	287	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2672433 rs761142991	287	R>P		No	ClinGen ExAC TOPMed gnomAD
CA86096591 rs761142991	287	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs767844019 CA2672431	287	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2672435 rs754007864	289	D>Y		No	ClinGen ExAC gnomAD
rs566087939 CA2672436	290	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2672437 rs779296105	292	T>I		No	ClinGen ExAC gnomAD
rs145570287 CA2672438	293	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	294	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780911272 CA2672440	296	C>*		No	ClinGen ExAC gnomAD
CA355025860 rs1338054053	297	A>D		No	ClinGen gnomAD
CA2672441 rs748097565	299	N>S		No	ClinGen ExAC TOPMed gnomAD
CA2672442 rs370708485	301	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	301	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777298519 CA2672443	302	V>F		No	ClinGen ExAC gnomAD
COSM1495428 rs868057570 CA86096592	304	A>V	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1202004438 CA355025915	305	T>M		No	ClinGen gnomAD
rs759251298 CA2672447	318	C>F		No	ClinGen ExAC gnomAD
rs775765074 CA2672449	324	Y>C		No	ClinGen ExAC gnomAD
rs761210208 CA2672450	325	F>I		No	ClinGen ExAC gnomAD
rs764537407 CA2672451	325	F>S		No	ClinGen ExAC gnomAD
rs1406416376 CA355026063 COSM1130312	327	A>V	ovary Variant assessed as Somatic; 0.0 impact. prostate [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1325143378 CA355026082	330	T>I		No	ClinGen gnomAD
CA2672453 rs761994089	330	T>S		No	ClinGen ExAC TOPMed gnomAD
CA355026098 rs1433510831	333	R>G		No	ClinGen gnomAD
TCGA novel	333	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750665122 CA2672455	334	R>S		No	ClinGen ExAC
rs765483196 CA2672454	334	R>T		No	ClinGen ExAC
rs1441918401 CA355026112	335	L>F		No	ClinGen Ensembl
CA86096596 rs183833270	336	S>F		No	ClinGen 1000Genomes
rs758599193 CA2672456	336	S>P		No	ClinGen ExAC gnomAD
CA2672457 rs767315677	337	R>G		No	ClinGen ExAC gnomAD
CA2672458 rs752467051	337	R>Q		No	ClinGen ExAC gnomAD
rs148838375 CA2672459	339	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs764314085 CA86096598	340	R>G		No	ClinGen gnomAD
CA2672461 rs748730502	344	R>G		No	ClinGen ExAC gnomAD
rs1448592345 CA355026162	344	R>T		No	ClinGen gnomAD
CA2672462 rs756754346	345	R>G		No	ClinGen ExAC gnomAD
CA355026211 rs1246111459	351	Q>*		No	ClinGen gnomAD
rs1001235390 CA86096599	354	S>N		No	ClinGen Ensembl
CA355026255 rs1429497361	357	M>V		No	ClinGen TOPMed gnomAD
rs771661930 CA2672465	358	T>N		No	ClinGen ExAC TOPMed gnomAD
CA86096600 rs1052440646	359	L>F		No	ClinGen TOPMed
rs200589001 CA2672466	360	N>S		No	ClinGen ExAC gnomAD
rs1576604647 CA355026293	362	L>F		No	ClinGen Ensembl
rs373291127 CA2672468	363	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2672469 rs769145376	364	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1228268707 CA355026318	366	K>R		No	ClinGen TOPMed
rs777279402 CA2672470	368	N>K		No	ClinGen ExAC gnomAD
TCGA novel	371	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2672472 rs762472227	371	T>K		No	ClinGen ExAC gnomAD
rs765390536 CA2672473	372	S>N		No	ClinGen ExAC gnomAD
TCGA novel	374	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with P47900

1 regional properties for P47900

Type	Name	Position	InterPro Accession
domain	GPCR, rhodopsin-like, 7TM	68 - 324	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

13 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
basolateral plasma membrane	The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
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.
cilium	A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.
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.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of presynaptic active zone membrane	The component of the presynaptic active zone 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.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
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 density	An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
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.

9 GO annotations of molecular function

Name	Definition
A1 adenosine receptor binding	Binding to an A1 adenosine receptor.
ADP binding	Binding to ADP, adenosine 5'-diphosphate.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
G protein-coupled ADP receptor activity	Combining with ADP 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 ATP receptor activity	Combining with ATP 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 purinergic nucleotide receptor activity	Combining with a purine nucleotide and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
scaffold protein binding	Binding to a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes.
signaling receptor activity	Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.

34 GO annotations of biological process

Name	Definition
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	A G protein-coupled receptor signaling pathway in which the signal is transmitted via the inhibition of adenylyl cyclase activity and a subsequent decrease in the intracellular concentration of cyclic AMP (cAMP).
aging	A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700).
blood vessel diameter maintenance	Any process that modulates the diameter of blood vessels.
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.
cellular response to ATP	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 an ATP (adenosine 5'-triphosphate) stimulus.
cellular response to purine-containing compound	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 purine-containing compound stimulus.
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.
establishment of localization in cell	Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation.
G protein-coupled adenosine receptor signaling pathway	The series of molecular signals generated as a consequence of a receptor binding to extracellular adenosine and transmitting the signal to a heterotrimeric G-protein complex to initiate a change in cell activity.
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.
glial cell migration	The orderly movement of a glial cell, non-neuronal cells that provide support and nutrition, maintain homeostasis, form myelin, and participate in signal transmission in the nervous system.
ion transport	The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
negative regulation of binding	Any process that stops or reduces the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule.
negative regulation of norepinephrine secretion	Any process that decreases the frequency, rate or extent of the regulated release of norepinephrine.
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).
platelet activation	A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug.
positive regulation of cytosolic calcium ion concentration	Any process that increases the concentration of calcium ions in the cytosol.
positive regulation of ERK1 and ERK2 cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of 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 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 ion transport	Any process that activates or increases the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
positive regulation of penile erection	Any process that increases the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow.
positive regulation of protein phosphorylation	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
protein localization to plasma membrane	A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.
regulation of cell shape	Any process that modulates the surface configuration of a cell.
regulation of presynaptic cytosolic calcium ion concentration	Any process that regulates the concentration of calcium in the presynaptic cytosol.
regulation of signaling receptor activity	Any process that modulates the frequency, rate or extent of a signaling receptor activity. Receptor activity is when a molecule combines with an extracellular or intracellular messenger to initiate a change in cell activity.
regulation of synaptic vesicle exocytosis	Any process that modulates the frequency, rate or extent of synaptic vesicle exocytosis.
relaxation of muscle	A process in which the extent of muscle contraction is reduced. Muscle relaxation can involve a number of processes including the removal of calcium from the cytoplasm to the sarcoplasmic reticulum lumen through the action of Ca2+ ATPases. In some muscles, calcium-independent pathways also play a role in muscle relaxation by decreasing the phosphorylation state of myosin light chain.
response to growth factor	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 growth factor stimulus.
response to mechanical stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical 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.
signal transduction involved in regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression as a consequence of a process in which a signal is released and/or conveyed from one location to another.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MTEVLWPAVP	NGTDAAFLAG	PGSSWGNSTV	ASTAAVSSSF	KCALTKTGFQ	FYYLPAVYIL
70	80	90	100	110	120
VFIIGFLGNS	VAIWMFVFHM	KPWSGISVYM	FNLALADFLY	VLTLPALIFY	YFNKTDWIFG
130	140	150	160	170	180
DAMCKLQRFI	FHVNLYGSIL	FLTCISAHRY	SGVVYPLKSL	GRLKKKNAIC	ISVLVWLIVV
190	200	210	220	230	240
VAISPILFYS	GTGVRKNKTI	TCYDTTSDEY	LRSYFIYSMC	TTVAMFCVPL	VLILGCYGLI
250	260	270	280	290	300
VRALIYKDLD	NSPLRRKSIY	LVIIVLTVFA	VSYIPFHVMK	TMNLRARLDF	QTPAMCAFND
310	320	330	340	350	360
RVYATYQVTR	GLASLNSCVD	PILYFLAGDT	FRRRLSRATR	KASRRSEANL	QSKSEDMTLN
370
ILPEFKQNGD	TSL