AiPD: Autoinhibited Protein Database

P11229

Gene name	CHRM1
Protein name	Muscarinic acetylcholine receptor M1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1128
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

189-389 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

189-389 (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

7 structures for P11229

Entry ID	Method	Resolution	Chain	Position	Source
5CXV	X-ray	270 A			PDB
6OIJ	EM	330 A	R	2-460	PDB
6WJC	X-ray	255 A			PDB
6ZFZ	X-ray	217 A			PDB
6ZG4	X-ray	233 A			PDB
6ZG9	X-ray	250 A			PDB
AF-P11229-F1	Predicted				AlphaFoldDB

261 variants for P11229

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA223646217 rs765689672	3	T>I		No	ClinGen Ensembl
rs540415934 CA6059057	6	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	8	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1175650937 CA380961435	8	A>T		No	ClinGen TOPMed
CA380961423 rs1451505103	9	V>A		No	ClinGen gnomAD
rs781306085 CA6059055	15	V>I		No	ClinGen ExAC TOPMed gnomAD
rs746998954 CA6059054	20	K>N		No	ClinGen ExAC gnomAD
rs766040721 CA223646181	21	G>C		No	ClinGen Ensembl
rs1274274768 CA380961179	24	Q>K		No	ClinGen gnomAD
rs777577586 CA6059052	26	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA223646173 rs755473391	26	A>V		No	ClinGen Ensembl
rs1364234048 CA380961128	27	F>L		No	ClinGen gnomAD
rs758159471 CA6059051	27	F>S		No	ClinGen ExAC gnomAD
rs778446936 CA6059049	28	I>T		No	ClinGen ExAC gnomAD
rs1382374831 CA380961103	28	I>V		No	ClinGen Ensembl
CA380961078 rs1304821622	29	G>V		No	ClinGen gnomAD
CA380961056 rs1590649153	31	T>P		No	ClinGen Ensembl
TCGA novel	32	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380961040 rs1590649146	32	T>P		No	ClinGen Ensembl
rs762384561 CA6059045	38	A>S		No	ClinGen ExAC
rs764475443 CA6059043	46	V>I		No	ClinGen ExAC gnomAD
rs763230269 CA6059042	48	I>V		No	ClinGen ExAC gnomAD
CA223646130 rs949989039	52	V>A		No	ClinGen TOPMed gnomAD
rs951216095 CA223646129	53	N>S		No	ClinGen TOPMed
CA6059041 rs369184258	54	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs759819719 CA6059039	55	E>K		No	ClinGen ExAC gnomAD
rs1202745803 CA380960626	59	V>A		No	ClinGen gnomAD
rs900929520 CA380960485	69	C>F		No	ClinGen TOPMed gnomAD
CA223646100 rs900929520	69	C>Y		No	ClinGen TOPMed gnomAD
rs146004957 CA380960208	83	T>I		No	ClinGen ESP TOPMed gnomAD
CA223646091 rs146004957	83	T>N		No	ClinGen ESP TOPMed gnomAD
rs1444055167 CA380960190	84	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6059030 rs748995083	90	H>N		No	ClinGen ExAC
CA6059029 rs779659363	94	G>V		No	ClinGen ExAC gnomAD
CA223646072 rs1007009594	95	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA380959919 rs1179273585	95	T>S		No	ClinGen gnomAD
TCGA novel	97	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1590649035 CA380959824	99	D>A		No	ClinGen Ensembl
TCGA novel	125	F>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380959012 rs1265053742	127	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA380958967 rs1224087555	129	R>Q		No	ClinGen gnomAD
rs904767341 CA223646055	132	S>R		No	ClinGen TOPMed gnomAD
rs1373703509 CA380958858	133	Y>H		No	ClinGen gnomAD
rs1301956324 CA380958794	134	R>C		No	ClinGen gnomAD
rs759707133 CA6059022	134	R>H		No	ClinGen ExAC gnomAD
rs1450331519 CA380958777	135	A>T		No	ClinGen TOPMed
TCGA novel	137	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380958657 rs1407712682	138	T>K		No	ClinGen gnomAD
rs149348258 CA6059020	139	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs149348258 CA223646048	139	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs773402932 CA6059018	140	R>C		No	ClinGen ExAC gnomAD
rs771901408 CA6059017	140	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	141	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA223646022 rs902072068	141	R>Q		No	ClinGen TOPMed gnomAD
rs748161677 CA6059016	141	R>W		No	ClinGen ExAC gnomAD
TCGA novel	143	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201469790 CA6059013	147	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	148	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380958213 rs1590648935	152	V>G		No	ClinGen Ensembl
rs1418240492 CA380958176	154	F>L		No	ClinGen Ensembl
CA380957806 rs1315239128	166	Y>*		No	ClinGen gnomAD
rs753270791 CA6059007	169	G>V		No	ClinGen ExAC gnomAD
rs1382129041 CA380957693	171	R>Q	Variant assessed as Somatic; 4.629e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1346205042 CA380957559	179	Y>H		No	ClinGen gnomAD
rs1163383446 CA380957412	183	L>P		No	ClinGen gnomAD
TCGA novel	186	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6059004 rs754003908	188	I>L		No	ClinGen ExAC TOPMed gnomAD
CA380957246 rs1590648891	189	T>P		No	ClinGen Ensembl
TCGA novel	193	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1590648884 CA380956993	198	Y>S		No	ClinGen Ensembl
CA380956942 rs1486171093	201	V>I		No	ClinGen gnomAD
rs761028069 CA6059002	203	V>I		No	ClinGen ExAC gnomAD
TCGA novel	204	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6059001 rs750443392	206	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1213211267 CA380956593	210	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA223645939 rs1045782221	210	R>H		No	ClinGen Ensembl
CA6058998 rs774456975	211	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6058996 rs146879247	213	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	216	E>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775481630 CA6058995	216	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	218	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380956330 rs1196419495	220	R>Q		No	ClinGen TOPMed gnomAD
rs200836826 CA223645927	220	R>W		No	ClinGen 1000Genomes gnomAD
rs769324048 CA6058994	221	E>K		No	ClinGen ExAC gnomAD
TCGA novel	223	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380956262 rs1164511420	223	A>T		No	ClinGen gnomAD
CA6058993 rs745574062	225	L>F		No	ClinGen ExAC gnomAD
rs1555024129 CA380956223	225	L>P		No	ClinGen Ensembl
CA380956114 rs1268099406	229	E>D		No	ClinGen TOPMed gnomAD
rs909781711 CA223645892	229	E>K		No	ClinGen TOPMed
rs770505895 CA6058991	230	T>A		No	ClinGen ExAC gnomAD
rs748587610 CA6058990	230	T>M		No	ClinGen ExAC TOPMed gnomAD
rs951287956 CA223645866	231	P>S		No	ClinGen TOPMed
CA380956066 rs1194917216	232	G>S		No	ClinGen gnomAD
CA380955987 rs1337079123	234	G>A		No	ClinGen gnomAD
CA380955974 rs1590648804	235	G>C		No	ClinGen Ensembl
CA6058988 rs755538109	236	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	236	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs953571442 CA223645858	240	S>N		No	ClinGen Ensembl
CA6058985 rs756271940	243	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1347825151 CA380955709	243	R>S		No	ClinGen gnomAD
CA380955702 rs1590648764	244	S>A		No	ClinGen Ensembl
rs761952375 CA6058982	246	P>L		No	ClinGen ExAC TOPMed gnomAD
CA380955637 rs761952375	246	P>R		No	ClinGen ExAC TOPMed gnomAD
CA6058983 rs767451271	246	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6058981 rs751481451	247	G>E		No	ClinGen ExAC gnomAD
TCGA novel	248	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1330446378 CA380955599	248	A>P		No	ClinGen TOPMed
rs1330446378 CA380955596	248	A>S		No	ClinGen TOPMed
CA6058977 rs769678921	250	G>D		No	ClinGen ExAC gnomAD
rs775393654 CA6058978	250	G>S		No	ClinGen ExAC gnomAD
CA380955488 rs1180854450	253	E>K		No	ClinGen gnomAD
rs759070868 CA6058976	254	T>I		No	ClinGen ExAC
CA380955453 rs1435808755	254	T>P		No	ClinGen TOPMed gnomAD
rs1590648727 CA380955379	256	P>R		No	ClinGen Ensembl
CA6058973 rs746510632	257	G>A		No	ClinGen ExAC gnomAD
CA6058974 rs770290851	257	G>C		No	ClinGen ExAC gnomAD
CA380955373 rs770290851	257	G>S		No	ClinGen ExAC gnomAD
rs777333908 CA6058972	258	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6058971 rs769122652	258	R>H		No	ClinGen ExAC TOPMed gnomAD
rs532190529 CA6058969	259	C>F		No	ClinGen 1000Genomes ExAC gnomAD
rs749847927 CA6058970	259	C>R		No	ClinGen ExAC gnomAD
CA6058967 rs756528929	261	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA223645761 rs866790634	263	C>*		No	ClinGen Ensembl
CA6058963 rs751684030	264	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6058962 rs751684030	264	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781487671 CA6058965	264	R>W		No	ClinGen ExAC TOPMed
rs1021265016 CA223645758	265	A>T		No	ClinGen TOPMed gnomAD
rs1476180424 CA380955160	265	A>V		No	ClinGen TOPMed
rs1406753506 CA380955159	266	P>T		No	ClinGen gnomAD
rs1468472272 CA380955128	267	R>K		No	ClinGen gnomAD
CA380955118 rs1168228575	267	R>S		No	ClinGen TOPMed
CA6058958 rs189481818	271	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1604924 rs574345028 CA6058957	273	S>N	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA380954930 rs1590648654	275	K>E		No	ClinGen Ensembl
CA380954778 rs1418961898	278	E>G		No	ClinGen gnomAD
rs776349226 CA6058955	281	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6058953 rs760363492	282	E>K		No	ClinGen ExAC gnomAD
rs772689016 CA6058952	283	G>V		No	ClinGen ExAC gnomAD
rs1232492901 CA380954537	285	M>T		No	ClinGen gnomAD
CA6058951 rs771596501	285	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	287	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1381058101 CA380954397	288	L>P		No	ClinGen TOPMed
CA6058950 rs371062396	290	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA380954319 rs371062396	290	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs746228202 CA6058947	293	G>E		No	ClinGen ExAC gnomAD
CA223645711 rs199645139	293	G>R		No	ClinGen Ensembl
rs746228202 CA380954214	293	G>V		No	ClinGen ExAC gnomAD
rs1278464774 CA380954209	294	E>K		No	ClinGen TOPMed
CA6058945 rs757521064	295	E>K		No	ClinGen ExAC gnomAD
rs747282277 CA6058944	297	G>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	297	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6058942 rs541812336	299	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380954014 rs1260907646	300	V>M		No	ClinGen TOPMed
rs1445802165 CA380953933	302	I>N		No	ClinGen gnomAD
CA380953696 rs1286901593	306	M>V		No	ClinGen gnomAD
CA6058940 rs765208491	308	D>E		No	ClinGen ExAC gnomAD
CA6058938 rs753639928	310	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6058937 rs766212593	312	Q>H		No	ClinGen ExAC gnomAD
CA380953400 rs1380044901	313	A>T		No	ClinGen TOPMed gnomAD
CA223645679 rs942144058	314	P>L		No	ClinGen TOPMed gnomAD
CA6058936 rs760275628	314	P>T		No	ClinGen ExAC gnomAD
CA6058935 rs772886847	315	T>I		No	ClinGen ExAC gnomAD
CA223645674 rs768891893	318	P>T		No	ClinGen Ensembl
COSM293619 CA6058932 rs773788891	320	R>Q	large_intestine Variant assessed as Somatic; 0.0001939 impact. haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs749521197 CA6058933	320	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1424862617 CA380953106	321	S>R		No	ClinGen gnomAD
CA223645671 rs774059174	322	S>F		No	ClinGen Ensembl
CA6058931 rs143521986	324	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1274773200 CA380953039	325	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6058928 rs771444330 COSM929864	329	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs771444330 CA380952867	329	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA6058930 rs777030658	329	P>S		No	ClinGen ExAC gnomAD
rs777030658 CA6058929	329	P>T		No	ClinGen ExAC gnomAD
rs1490305836 CA380952771	332	K>N		No	ClinGen gnomAD
CA223645663 rs202041177	334	R>C		No	ClinGen TOPMed gnomAD
CA6058926 rs778155335	334	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6058925 rs758753068	336	R>G		No	ClinGen ExAC gnomAD
COSM1298341 rs925886937 CA223645658	336	R>Q	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs748255993 CA6058924	337	A>V		No	ClinGen ExAC gnomAD
CA6058923 rs763670699	338	G>S		No	ClinGen ExAC TOPMed gnomAD
rs370707333 CA6058922	339	K>M		No	ClinGen ESP ExAC gnomAD
CA380952287 rs1476783014	344	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs779787738 CA6058920	344	R>H		No	ClinGen ExAC TOPMed gnomAD
rs779787738 CA380952279	344	R>L		No	ClinGen ExAC TOPMed gnomAD
CA223645635 rs932506583	346	K>E		No	ClinGen Ensembl
rs1304759141 CA380952153	347	E>G		No	ClinGen TOPMed gnomAD
CA380952133 rs1436866939	348	Q>*		No	ClinGen gnomAD
CA380951981 rs1423708141	352	R>Q	Variant assessed as Somatic; 4.741e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	352	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750016057 CA6058918	353	K>R		No	ClinGen ExAC gnomAD
CA6058917 rs377511832	354	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1399306313 CA380951857	355	F>L		No	ClinGen gnomAD
TCGA novel	355	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1628142 CA6058916 rs761435729	356	S>L	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6058912 rs777308162	361	K>R		No	ClinGen ExAC gnomAD
CA380951634 rs1222935896	362	K>E		No	ClinGen gnomAD
rs1321351860 CA380951613	362	K>T		No	ClinGen gnomAD
CA380951587 rs1219592646	363	A>T		No	ClinGen gnomAD
rs1372342324 CA380951578	363	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1158763845 CA380951544	365	R>W		No	ClinGen TOPMed
rs1324435583 CA380951285	373	A>T		No	ClinGen TOPMed
CA380950882 rs1467731215	379	T>I		No	ClinGen gnomAD
rs1441677970 CA380950857	380	P>R		No	ClinGen TOPMed
rs983445836 CA223645580	384	M>I		No	ClinGen Ensembl
CA380950668 rs1434175151	384	M>T		No	ClinGen TOPMed gnomAD
rs772394041 CA6058908	392	K>E		No	ClinGen ExAC gnomAD
rs1223415935 CA380950252	394	C>R		No	ClinGen TOPMed
rs1175739065 CA380950153	395	V>I		No	ClinGen TOPMed gnomAD
rs1175739065 CA380950144	395	V>L		No	ClinGen TOPMed gnomAD
CA380950081 rs1230200604	396	P>S		No	ClinGen TOPMed
rs779005189 CA6058906	397	E>K		No	ClinGen ExAC TOPMed gnomAD
rs779005189 CA380950033	397	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1590648316 CA380949905	400	W>G		No	ClinGen Ensembl
CA380949763 rs1590648312	402	L>R		No	ClinGen Ensembl
CA380949601 rs1459987577	405	W>C		No	ClinGen gnomAD
rs779975794 CA6058903	407	C>G		No	ClinGen ExAC gnomAD
rs2067479 CA6058902	407	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756910124 CA6058899	409	V>G		No	ClinGen ExAC
CA380949378 rs1225220768	409	V>I		No	ClinGen gnomAD
CA380949258 rs1377212754	412	T>A		No	ClinGen gnomAD
CA380949020 rs1449918441	419	A>S		No	ClinGen TOPMed gnomAD
rs1449918441 CA380949022	419	A>T		No	ClinGen TOPMed gnomAD
rs534575167 CA6058898	420	L>I		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	421	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6058897 rs565800595	424	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs752313223 CA6058895	426	R>Q		No	ClinGen ExAC gnomAD
CA6058896 rs762373862	426	R>W		No	ClinGen ExAC gnomAD
CA380948534 rs1590648239	428	T>P		No	ClinGen Ensembl
rs773692118 CA6058892	430	R>G		No	ClinGen ExAC gnomAD
CA223645526 COSM193664 rs769154420	430	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA380948449 rs769154420	430	R>P		No	ClinGen TOPMed gnomAD
CA380948260 rs1298933700	436	R>C		No	ClinGen TOPMed
CA380948236 rs369705923	436	R>H		No	ClinGen ESP TOPMed gnomAD
rs369705923 CA223645509	436	R>L		No	ClinGen ESP TOPMed gnomAD
CA380947933 rs1258843299	441	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1217695022 CA380947931	441	R>H		No	ClinGen gnomAD
rs774444945 COSM929861 CA6058889	443	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs768728353 COSM929860 CA6058888	443	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs749311316 CA6058887	444	K>E		No	ClinGen ExAC gnomAD
CA380947744 rs1291489720	445	I>F		No	ClinGen TOPMed
rs1565264161 CA380947715	446	P>S		No	ClinGen Ensembl
CA6058884 rs745852921	448	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6058883 rs780914362	448	R>H		No	ClinGen ExAC TOPMed gnomAD
CA223645471 rs780914362	448	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6058882 rs757033520	449	P>L		No	ClinGen ExAC TOPMed gnomAD
CA380947568 rs757033520	449	P>R		No	ClinGen ExAC TOPMed gnomAD
rs777303714 CA6058880	451	S>P		No	ClinGen ExAC gnomAD
CA6058878 rs532204459	452	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1409398572 CA380947408	453	H>P		No	ClinGen TOPMed
rs1409398572 CA380947403	453	H>R		No	ClinGen TOPMed
CA223645449 rs376730515	454	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs764891738 CA6058877	454	R>H		No	ClinGen ExAC TOPMed gnomAD
CA380947360 rs1590648120	455	T>P		No	ClinGen Ensembl
rs1488521254 CA380947282	456	P>L		No	ClinGen gnomAD
rs897064861 CA223645441	456	P>T		No	ClinGen TOPMed gnomAD
CA380947233 rs1219921875	457	S>F		No	ClinGen gnomAD
rs1267879774 CA380947265	457	S>P		No	ClinGen gnomAD
rs1267879774 CA380947278	457	S>T		No	ClinGen gnomAD
rs149927551 CA6058874	458	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs369764574 CA6058873	458	R>H		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with P11229

1 regional properties for P11229

Type	Name	Position	InterPro Accession
domain	GPCR, rhodopsin-like, 7TM	42 - 418	IPR017452

Functions

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

12 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
axon terminus	Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal button is a specialized region of it.
cholinergic synapse	A synapse that uses acetylcholine as a neurotransmitter.
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 postsynaptic density membrane	The component of the postsynaptic density membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of presynaptic membrane	The component of the presynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
Schaffer collateral - CA1 synapse	A synapse between the Schaffer collateral axon of a CA3 pyramidal cell and a CA1 pyramidal cell.
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.

5 GO annotations of molecular function

Name	Definition
G protein-coupled acetylcholine receptor activity	Combining with acetylcholine and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.
G protein-coupled serotonin receptor activity	Combining with the biogenic amine serotonin and transmitting the signal across the membrane by activating an associated G-protein. Serotonin (5-hydroxytryptamine) is a neurotransmitter and hormone found in vertebrates and invertebrates.
neurotransmitter receptor activity	Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity.
neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential	Neurotransmitter receptor activity occurring in the postsynaptic membrane that is involved in regulating postsynaptic membrane potential, either directly (ionotropic receptors) or indirectly (e.g. via GPCR activation of an ion channel).
phosphatidylinositol phospholipase C activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1,2-diacylglycerol + 1D-myo-inositol 1,4,5-trisphosphate + H(+).

16 GO annotations of biological process

Name	Definition
adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway	An adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway initiated by acetylcholine binding to its receptor, and ending with the regulation of a downstream cellular process.
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.
cognition	The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory.
G protein-coupled acetylcholine receptor signaling pathway	A G protein-coupled receptor signaling pathway initiated by a ligand binding to an acetylcholine receptor on the surface of a target cell, and ends with regulation of a downstream cellular process, e.g. transcription.
G protein-coupled receptor signaling pathway	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.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
neuromuscular synaptic transmission	The process of synaptic transmission from a neuron to a muscle, across a synapse.
phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway	A phospholipase C-activating G protein-coupled receptor signaling pathway initiated by acetylcholine binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
positive regulation of intracellular protein transport	Any process that activates or increases the frequency, rate or extent of the directed movement of proteins within cells.
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.
protein kinase C-activating G protein-coupled receptor signaling pathway	The series of molecular signals generated as a consequence of a G protein-coupled receptor binding to its physiological ligand, where the pathway proceeds with activation of protein kinase C (PKC). PKC is activated by second messengers including diacylglycerol (DAG).
regulation of glial cell proliferation	Any process that modulates the frequency, rate or extent of glial cell proliferation.
regulation of locomotion	Any process that modulates the frequency, rate or extent of locomotion of a cell or organism.
saliva secretion	The regulated release of saliva from the salivary glands. In man, the saliva is a turbid and slightly viscous fluid, generally of an alkaline reaction, and is secreted by the parotid, submaxillary, and sublingual glands. In the mouth the saliva is mixed with the secretion from the buccal glands. In man and many animals, saliva is an important digestive fluid on account of the presence of the peculiar enzyme, ptyalin.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

28 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P30546	HRH1	Histamine H1 receptor	Bos taurus (Bovine)	PR
P41984	CHRM3	Muscarinic acetylcholine receptor M3	Bos taurus (Bovine)	PR
P41985	CHRM2	Muscarinic acetylcholine receptor M2	Bos taurus (Bovine)	PR
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
P08908	HTR1A	5-hydroxytryptamine receptor 1A	Homo sapiens (Human)	PR
Q9H3N8	HRH4	Histamine H4 receptor	Homo sapiens (Human)	PR
P08173	CHRM4	Muscarinic acetylcholine receptor M4	Homo sapiens (Human)	PR
P08912	CHRM5	Muscarinic acetylcholine receptor M5	Homo sapiens (Human)	PR
P08172	CHRM2	Muscarinic acetylcholine receptor M2	Homo sapiens (Human)	PR
P20309	CHRM3	Muscarinic acetylcholine receptor M3	Homo sapiens (Human)	PR
P35367	HRH1	Histamine H1 receptor	Homo sapiens (Human)	PR
P70174	Hrh1	Histamine H1 receptor	Mus musculus (Mouse)	PR
P32211	Chrm4	Muscarinic acetylcholine receptor M4	Mus musculus (Mouse)	PR
Q920H4	Chrm5	Muscarinic acetylcholine receptor M5	Mus musculus (Mouse)	PR
Q9ERZ3	Chrm3	Muscarinic acetylcholine receptor M3	Mus musculus (Mouse)	PR
Q9ERZ4	Chrm2	Muscarinic acetylcholine receptor M2	Mus musculus (Mouse)	PR
P12657	Chrm1	Muscarinic acetylcholine receptor M1	Mus musculus (Mouse)	PR
P04761	CHRM1	Muscarinic acetylcholine receptor M1	Sus scrofa (Pig)	PR
P31390	Hrh1	Histamine H1 receptor	Rattus norvegicus (Rat)	PR
P08483	Chrm3	Muscarinic acetylcholine receptor M3	Rattus norvegicus (Rat)	PR
P08911	Chrm5	Muscarinic acetylcholine receptor M5	Rattus norvegicus (Rat)	PR
P08482	Chrm1	Muscarinic acetylcholine receptor M1	Rattus norvegicus (Rat)	PR
P56489	CHRM1	Muscarinic acetylcholine receptor M1	Macaca mulatta (Rhesus macaque)	PR
P56490	CHRM5	Muscarinic acetylcholine receptor M5	Macaca mulatta (Rhesus macaque)	PR
Q9U7D5	gar-3	Muscarinic acetylcholine receptor gar-3	Caenorhabditis elegans	PR

10	20	30	40	50	60
MNTSAPPAVS	PNITVLAPGK	GPWQVAFIGI	TTGLLSLATV	TGNLLVLISF	KVNTELKTVN
70	80	90	100	110	120
NYFLLSLACA	DLIIGTFSMN	LYTTYLLMGH	WALGTLACDL	WLALDYVASN	ASVMNLLLIS
130	140	150	160	170	180
FDRYFSVTRP	LSYRAKRTPR	RAALMIGLAW	LVSFVLWAPA	ILFWQYLVGE	RTVLAGQCYI
190	200	210	220	230	240
QFLSQPIITF	GTAMAAFYLP	VTVMCTLYWR	IYRETENRAR	ELAALQGSET	PGKGGGSSSS
250	260	270	280	290	300
SERSQPGAEG	SPETPPGRCC	RCCRAPRLLQ	AYSWKEEEEE	DEGSMESLTS	SEGEEPGSEV
310	320	330	340	350	360
VIKMPMVDPE	AQAPTKQPPR	SSPNTVKRPT	KKGRDRAGKG	QKPRGKEQLA	KRKTFSLVKE
370	380	390	400	410	420
KKAARTLSAI	LLAFILTWTP	YNIMVLVSTF	CKDCVPETLW	ELGYWLCYVN	STINPMCYAL
430	440	450
CNKAFRDTFR	LLLLCRWDKR	RWRKIPKRPG	SVHRTPSRQC