AiPD: Autoinhibited Protein Database

O75311

Gene name	GLRA3
Protein name	Glycine receptor subunit alpha-3
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8001
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-77 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-77 (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

6 structures for O75311

Entry ID	Method	Resolution	Source
5CFB	X-ray	304 A	PDB
5TIN	X-ray	261 A	PDB
5TIO	X-ray	325 A	PDB
5VDH	X-ray	285 A	PDB
5VDI	X-ray	310 A	PDB
AF-O75311-F1	Predicted		AlphaFoldDB

351 variants for O75311

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs750368139 CA3142855	2	A>V		No	ClinGen ExAC gnomAD
CA111163362 rs886880991	5	R>G		No	ClinGen TOPMed
TCGA novel	6	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3142853 rs761726876	6	H>Q		No	ClinGen ExAC gnomAD
rs776340051 CA358816529	8	R>L		No	ClinGen ExAC gnomAD
rs776340051 CA3142852	8	R>P		No	ClinGen ExAC gnomAD
rs776340051 CA358816528 COSM3714745	8	R>Q	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3142851 rs763910056	9	T>I		No	ClinGen ExAC TOPMed gnomAD
CA358816522 rs775148810	10	L>I		No	ClinGen ExAC
CA3142849 rs775148810	10	L>V		No	ClinGen ExAC
CA111163361 rs997896587 COSM733089	12	S>L	lung Variant assessed as Somatic; impact. urinary_tract [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs745435987 CA3142847	13	G>V		No	ClinGen ExAC gnomAD
CA3142846 rs773982539	14	F>C		No	ClinGen ExAC gnomAD
rs1431943893 CA358816480	16	F>C		No	ClinGen gnomAD
TCGA novel	16	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1178765596 CA358816483	16	F>V		No	ClinGen gnomAD
rs1039626391 CA111163360	17	W>*		No	ClinGen TOPMed
rs147829365 CA3142843	20	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs781326948 CA3142840	24	S>G		No	ClinGen ExAC gnomAD
CA358816430 rs1257531379	24	S>N		No	ClinGen gnomAD
CA3142810 rs144360619	25	L>M		No	ClinGen ESP ExAC gnomAD
rs772597078 CA3142809	25	L>S		No	ClinGen ExAC gnomAD
CA3142806 rs777020982	26	V>A		No	ClinGen ExAC gnomAD
rs375428370 CA3142808	26	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs375428370 CA3142807	26	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs375428370 CA358816859	26	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3142805 rs768969378	27	A>T		No	ClinGen ExAC gnomAD
rs748455260 CA111158558	28	T>A		No	ClinGen Ensembl
rs773341888 CA3142804	28	T>I		No	ClinGen ExAC gnomAD
rs1181339631 CA358816846	29	K>E		No	ClinGen gnomAD
rs770097482 CA111158557	31	T>S		No	ClinGen Ensembl
rs367921397 CA3142803	33	S>I		No	ClinGen ESP ExAC gnomAD
CA3142802 rs748400564	34	A>E		No	ClinGen ExAC TOPMed gnomAD
CA3142801 rs372233829	35	R>S		No	ClinGen ESP ExAC gnomAD
rs778833127 CA3142800	36	S>T		No	ClinGen ExAC gnomAD
rs1283495575 CA358816798	36	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs756114114 CA3142799	37	R>*		No	ClinGen ExAC TOPMed gnomAD
CA358816793 rs1357104088	37	R>Q		No	ClinGen gnomAD
CA358816778 rs1188347961	39	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs754765943 CA3142797	41	M>K		No	ClinGen ExAC gnomAD
CA3142796 rs754765943	41	M>T		No	ClinGen ExAC gnomAD
rs1244038630 CA358816770	41	M>V		No	ClinGen gnomAD
CA3142795 rs751264797	44	S>F		No	ClinGen ExAC TOPMed gnomAD
CA111158555 rs566303100	45	D>V		No	ClinGen 1000Genomes
TCGA novel	47	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1325144807 CA358816728	47	L>P		No	ClinGen gnomAD
TCGA novel	48	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	48	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358816724 rs1406504007	48	D>Y		No	ClinGen gnomAD
CA358816702 rs1161197992	51	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA358816680 rs1190209804	54	T>A		No	ClinGen TOPMed gnomAD
CA358816681 rs1190209804	54	T>P		No	ClinGen TOPMed gnomAD
TCGA novel	55	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762338650 CA3142790	56	G>*		No	ClinGen ExAC gnomAD
CA3142789 rs777074307	62	R>I		No	ClinGen ExAC gnomAD
CA358816615 rs1432301900	64	N>D		No	ClinGen TOPMed
rs140445296 CA3142788	64	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	65	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1326207995 CA358816406	69	P>S		No	ClinGen gnomAD
rs764827296 CA3142771	70	V>I		No	ClinGen ExAC TOPMed gnomAD
rs756689268 CA3142770	73	T>I		No	ClinGen ExAC gnomAD
rs1353561321 CA358816360	76	I>V		No	ClinGen gnomAD
rs753341473 CA3142769	77	F>L		No	ClinGen ExAC gnomAD
rs764641902 CA3142768	78	I>T		No	ClinGen ExAC gnomAD
CA3142767 rs761146538	80	S>I		No	ClinGen ExAC gnomAD
rs7696263 CA358816318 CA358816319	81	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1179093017 CA358816315	82	G>D		No	ClinGen gnomAD
rs759822407 CA3142764	82	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1179093017 CA358816313	82	G>V		No	ClinGen gnomAD
CA111156270 rs961647000	84	I>V		No	ClinGen TOPMed
CA3142762 rs367597913 COSM1053303	85	A>T	Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3142761 rs200648761	87	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA358816283 rs200648761	87	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA111156269 rs769443687	89	M>V		No	ClinGen TOPMed
CA358815778 rs755560306	90	D>N		No	ClinGen ExAC TOPMed gnomAD
rs755560306 CA3142729	90	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA3142728 rs531222242	92	R>K		No	ClinGen ExAC gnomAD
rs781655869 CA358815742	95	I>F		No	ClinGen ExAC gnomAD
rs781655869 CA3142727	95	I>V		No	ClinGen ExAC gnomAD
COSM292317 CA3142726 rs368508904	98	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs751921093 CA3142725	98	R>H		No	ClinGen ExAC gnomAD
TCGA novel	99	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	102	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765420954 CA3142722	104	P>A		No	ClinGen ExAC gnomAD
rs765420954 CA3142723	104	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3142721 rs765420954	104	P>T		No	ClinGen ExAC gnomAD
CA3142720 COSM1428634 rs761733852	105	R>C	Variant assessed as Somatic; 0.0001386 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA358815674 rs761733852	105	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3142718 rs771950344	106	L>F		No	ClinGen ExAC gnomAD
rs138454135 CA3142715	107	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3142714 rs748951101	107	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1163138234 CA358815651	109	S>G		No	ClinGen TOPMed gnomAD
rs917761951 CA111152001	109	S>N		No	ClinGen Ensembl
rs1163138234 CA358815653	109	S>R		No	ClinGen TOPMed gnomAD
rs780735897 CA3142711	109	S>R		No	ClinGen ExAC TOPMed gnomAD
rs755481914 CA3142709	110	E>K		No	ClinGen ExAC gnomAD
rs758779867 CA3142707	113	D>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA358815617 rs1489658064	114	D>G		No	ClinGen gnomAD
CA3142705 rs765612723	114	D>N		No	ClinGen ExAC gnomAD
CA3142704 rs765612723	114	D>Y		No	ClinGen ExAC gnomAD
CA358815595 rs1481446062	117	D>A		No	ClinGen TOPMed gnomAD
rs1481446062 CA358815597	117	D>G		No	ClinGen TOPMed gnomAD
rs1443368704 CA358815592	118	L>I		No	ClinGen TOPMed
CA111152000 rs370809134	119	D>N		No	ClinGen ESP TOPMed
rs199507669 CA3142701	120	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3142700 rs759410433	124	D>N		No	ClinGen ExAC TOPMed gnomAD
CA358815550 rs759410433	124	D>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	127	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358815483 rs1253550970	133	F>V		No	ClinGen TOPMed
CA358815477 rs1343693857	134	A>S		No	ClinGen TOPMed gnomAD
CA3142698 rs766164782	135	N>K		No	ClinGen ExAC gnomAD
rs1392174613 CA358815463	136	E>K		No	ClinGen gnomAD
CA111151999 rs938777327	137	K>R		No	ClinGen Ensembl
CA358815440 rs1209811359	139	A>D		No	ClinGen TOPMed
rs927343174 CA111151998	140	N>D		No	ClinGen Ensembl
rs1296753300 CA358815417	142	H>L		No	ClinGen gnomAD
rs1296753300 CA358815419	142	H>R		No	ClinGen gnomAD
CA358815411 rs1561081061	143	E>G		No	ClinGen Ensembl
CA358815413 rs1357696677	143	E>K		No	ClinGen gnomAD
rs772981841 CA3142696	145	T>A		No	ClinGen ExAC TOPMed gnomAD
rs772981841 CA358815399	145	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1186216812 CA358815330	155	K>E		No	ClinGen TOPMed
rs1449500527 CA358815325	155	K>N		No	ClinGen TOPMed
CA358815327 rs1247035731	155	K>R		No	ClinGen TOPMed
CA358815323 rs1430565568	156	N>H		No	ClinGen gnomAD
rs769383276 CA3142695	156	N>S		No	ClinGen ExAC gnomAD
TCGA novel	157	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs980137134 CA111151996	160	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1194722108 CA358815291	161	Y>N		No	ClinGen TOPMed
CA358815276 rs1182271566	163	I>V		No	ClinGen gnomAD
CA3142676 rs773035267	166	T>S		No	ClinGen ExAC gnomAD
rs891274311 CA111150518	169	L>V		No	ClinGen Ensembl
CA3142673 rs776289823	170	S>F		No	ClinGen ExAC gnomAD
rs761394888 CA3142674	170	S>P		No	ClinGen ExAC gnomAD
CA358814874 rs1238589947	173	M>K		No	ClinGen gnomAD
rs1397372727 CA358814835	176	K>R		No	ClinGen TOPMed
rs768058426 CA3142672	177	N>S		No	ClinGen ExAC gnomAD
CA111150516 rs865790626	179	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3142670 rs775116852	182	V>I		No	ClinGen ExAC TOPMed gnomAD
rs370369267 CA3142668	184	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1029428955 CA111150515	184	T>I		No	ClinGen Ensembl
CA3142669 rs370369267	184	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA111150513 rs376020310	185	C>R		No	ClinGen ESP
rs1403000129 CA358814674	185	C>Y		No	ClinGen TOPMed gnomAD
rs779166710 CA3142667	187	M>T		No	ClinGen ExAC gnomAD
CA111150512 rs868525992	188	Q>*		No	ClinGen Ensembl
CA358814652 rs1284760500	188	Q>R		No	ClinGen TOPMed
CA358814642 rs1157552045	190	E>K		No	ClinGen gnomAD
rs1451315274 CA358813938	196	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1220518103 CA358813941	196	M>T		No	ClinGen gnomAD
CA358813944 rs1326779475	196	M>V		No	ClinGen TOPMed
rs770045703 CA3142645	197	N>K		No	ClinGen ExAC TOPMed gnomAD
rs777980281 CA3142646	197	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1579438680 CA358813920	199	L>F		No	ClinGen Ensembl
rs781276380 CA3142643	200	I>T		No	ClinGen ExAC gnomAD
rs748333905 CA3142644	200	I>V		No	ClinGen ExAC TOPMed gnomAD
CA358813906 rs1224709737	201	F>C		No	ClinGen gnomAD
TCGA novel	202	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	203	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA111146897 rs1005385408	205	D>G		No	ClinGen Ensembl
CA358813864 rs140655344	206	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358813871 rs1327526495	206	E>K		No	ClinGen TOPMed
rs757129905 CA3142639	209	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3142638 rs561500506	210	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA111146896 rs999648197	211	V>A		No	ClinGen TOPMed gnomAD
CA358813833 rs1408028815	212	A>T		No	ClinGen gnomAD
CA358813828 COSM1539876 rs1395553136	213	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs763755305 CA3142637	214	G>R		No	ClinGen ExAC gnomAD
rs371548728 CA3142635	215	L>F		No	ClinGen ESP ExAC gnomAD
rs142132413 CA3142634	216	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs759179537 CA3142633	219	Q>E		No	ClinGen ExAC gnomAD
CA358813789 rs1207016671	219	Q>R		No	ClinGen gnomAD
rs1579438412 CA358813768	222	L>W		No	ClinGen Ensembl
rs770099956 CA3142629	224	E>K		No	ClinGen ExAC gnomAD
rs770099956 CA3142628	224	E>Q		No	ClinGen ExAC gnomAD
CA3142627 rs748387017	225	E>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	227	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3142626 rs776768933	227	D>Y		No	ClinGen ExAC gnomAD
rs768862714 CA3142625	229	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3142624 rs368953565	229	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3142623 COSM1053301 rs368953565	229	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	230	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772790389 CA111146895	231	C>G		No	ClinGen TOPMed
rs1451983165 CA358813663	237	T>R		No	ClinGen TOPMed
CA3142605 rs771987128	239	K>N		No	ClinGen ExAC TOPMed gnomAD
CA358816244 rs1481880859	239	K>R		No	ClinGen gnomAD
CA358816232 rs1399111483	241	T>A		No	ClinGen gnomAD
rs749253586 CA3142604	241	T>M		No	ClinGen ExAC TOPMed gnomAD
CA358816216 rs1241732177	243	I>M		No	ClinGen gnomAD
CA3142601 rs149146668	243	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs200026813 CA111146278	243	I>V		No	ClinGen 1000Genomes
CA358816210 rs1181775611	244	E>V		No	ClinGen gnomAD
CA358816204 rs781100845	245	V>A		No	ClinGen ExAC TOPMed gnomAD
rs781100845 CA3142600	245	V>G		No	ClinGen ExAC TOPMed gnomAD
CA3142599 rs201620617 COSM1428633	246	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3142597 rs774589195	246	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	247	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3142595 rs749930503	251	R>*	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA111146276 rs865795166	251	R>Q		No	ClinGen gnomAD
TCGA novel	253	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3142594 rs765792225	255	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1561048848 CA358816134	256	Y>F		No	ClinGen Ensembl
rs924547206 CA111146275	256	Y>H		No	ClinGen Ensembl
TCGA novel	259	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1209287514 CA358816106	260	M>T		No	ClinGen TOPMed
CA358816084 rs1311815017	263	P>S		No	ClinGen gnomAD
CA358816059 rs1414229599	267	I>V		No	ClinGen TOPMed
rs1290651421 CA358816053	268	V>I		No	ClinGen gnomAD
rs764314613 CA3142591	270	L>I		No	ClinGen ExAC gnomAD
COSM2149942 rs771115012 CA111146273	274	S>L	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs150394640 CA358816009	275	F>L		No	ClinGen ESP ExAC gnomAD
rs150394640 CA3142588	275	F>V		No	ClinGen ESP ExAC gnomAD
TCGA novel	276	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1167131015 CA358815982	278	N>S		No	ClinGen TOPMed
rs1561048752 CA358815966	280	D>G		No	ClinGen Ensembl
CA111146272 rs991255669	282	A>V		No	ClinGen TOPMed
rs774546798 CA3142586	283	P>L		No	ClinGen ExAC gnomAD
rs781159642 CA3142583	284	A>S		No	ClinGen ExAC TOPMed gnomAD
rs768281440 CA3142582	284	A>V		No	ClinGen ExAC gnomAD
rs1579429101 CA358815933	286	V>G		No	ClinGen Ensembl
rs746683731 CA3142581	286	V>L		No	ClinGen ExAC gnomAD
rs779639582 CA3142580	292	T>A		No	ClinGen ExAC gnomAD
rs1264570886 CA358815898	292	T>S		No	ClinGen gnomAD
rs557720246 CA3142577	293	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1164021541 CA358815849	300	S>G		No	ClinGen gnomAD
COSM1053299 rs773481118 CA358815847	300	S>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA111146269 rs773481118	300	S>T		No	ClinGen gnomAD
CA3142576 rs757782189	301	S>A		No	ClinGen ExAC gnomAD
rs754284058 CA3142575	301	S>L		No	ClinGen ExAC TOPMed gnomAD
CA358815825 rs1388862203	304	R>*		No	ClinGen gnomAD
CA3142574 rs764522596	304	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA358815813 rs1462842454	306	S>Y		No	ClinGen gnomAD
CA358815791 rs1579428922	309	K>N		No	ClinGen Ensembl
TCGA novel	311	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs560093755 CA3142549	312	Y>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560093755 CA3142550	312	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3142548 rs372446190	313	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1160565848 CA358815214	315	A>G		No	ClinGen TOPMed
CA3142546 rs751776274	315	A>S		No	ClinGen ExAC gnomAD
rs144463868 CA3142545	316	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM350988 rs763195630 CA3142544	317	D>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3142543 rs773329348	323	C>S		No	ClinGen ExAC gnomAD
CA358815153 rs1318963226	324	L>F		No	ClinGen gnomAD
rs1307457276 CA358815133	327	V>L		No	ClinGen gnomAD
CA358815116 rs1384136326	329	S>L		No	ClinGen gnomAD
rs1394855263 CA358815113	330	A>S		No	ClinGen TOPMed gnomAD
CA358815115 rs1394855263	330	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs760631561 CA3142541	330	A>V		No	ClinGen ExAC gnomAD
CA111144240 rs867171370	331	L>P		No	ClinGen Ensembl
COSM1428631 CA358815079 rs1336414168	335	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3142539 rs771794578	337	V>L		No	ClinGen ExAC gnomAD
rs539891118 CA3142538	338	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA111144239 rs945442193	340	V>L		No	ClinGen TOPMed gnomAD
rs774055425 CA3142537	341	S>L		No	ClinGen ExAC gnomAD
rs896561488 CA111144238	343	Q>*		No	ClinGen gnomAD
rs868737753 CA111144237	344	H>R		No	ClinGen gnomAD
CA3142534 rs748841046	347	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs777302621 CA3142533	347	L>P		No	ClinGen ExAC gnomAD
rs748637883 CA3142531	350	F>L		No	ClinGen ExAC gnomAD
COSM1208326 rs781425532 CA3142530	351	R>*	large_intestine skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs546808702 CA111144236	351	R>L		No	ClinGen ExAC TOPMed gnomAD
rs546808702 CA3142529	351	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3142527 rs766770260	352	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3142526 rs758671619	352	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3142525 rs750510260	354	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3142523 rs760554975	357	K>E		No	ClinGen ExAC gnomAD
TCGA novel	359	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3142499 rs751385847	359	E>D		No	ClinGen ExAC gnomAD
rs1325522618 CA358814824	360	A>S		No	ClinGen TOPMed
TCGA novel	362	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766111922 CA3142498	362	A>T		No	ClinGen ExAC gnomAD
rs144900872 CA3142496	368	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3142495 rs142149685	368	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358814713 rs1316666650	369	F>Y		No	ClinGen gnomAD
rs1223645244 CA358814690	372	M>T		No	ClinGen gnomAD
CA3142485 rs570403797	375	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1255467434 CA358814595	375	E>K		No	ClinGen gnomAD
rs753987637 CA3142483	376	V>G		No	ClinGen ExAC gnomAD
rs1045476641 CA111142544	378	E>K		No	ClinGen Ensembl
rs1179069123 CA358814565	379	S>N		No	ClinGen TOPMed
CA358814563 rs1561028476	379	S>R		No	ClinGen Ensembl
rs145802010 CA3142482	380	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs949517674 CA111142542	381	F>I		No	ClinGen Ensembl
TCGA novel	383	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA111142541 rs75893041	383	F>S		No	ClinGen Ensembl
rs568373129 CA3142480	383	F>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3142479 rs766164934	385	A>T		No	ClinGen ExAC gnomAD
rs750173498 CA3142477	387	G>R		No	ClinGen ExAC gnomAD
CA3142476 rs764989600	388	M>K		No	ClinGen ExAC TOPMed gnomAD
rs754973814 CA111142540	391	C>Y		No	ClinGen Ensembl
CA358814479 rs761345475	393	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA3142475 rs761345475	393	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA358814472 rs1366304508	394	A>P		No	ClinGen TOPMed
rs1414108142 CA358814463	395	K>R		No	ClinGen gnomAD
CA111142538 rs1012660544	396	D>E		No	ClinGen TOPMed gnomAD
TCGA novel	398	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1055333321 CA111142537	400	P>S		No	ClinGen Ensembl
rs898132805 CA111142536	401	K>E		No	ClinGen TOPMed
rs1016567434 CA111142535	401	K>N		No	ClinGen TOPMed gnomAD
rs768235434 CA358814417	402	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1380097889 CA358814419	402	G>R		No	ClinGen TOPMed gnomAD
rs1380097889 CA358814420	402	G>S		No	ClinGen TOPMed gnomAD
CA3142473 rs768235434	402	G>V		No	ClinGen ExAC gnomAD
rs1235234214 CA358814410	403	P>L		No	ClinGen gnomAD
rs150967429 CA358814405	404	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs150967429 CA3142471	404	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3142470 rs772442290	406	P>H		No	ClinGen ExAC gnomAD
CA358814372 rs1184281780	409	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3142469 rs746289463	410	M>I		No	ClinGen ExAC gnomAD
rs1245144264 CA358814365	410	M>T		No	ClinGen TOPMed
CA358814355 rs1352641003	412	K>E		No	ClinGen gnomAD
rs771215209 CA3142467	414	P>L		No	ClinGen ExAC TOPMed gnomAD
CA358814322 rs1447442384	416	E>D		No	ClinGen gnomAD
TCGA novel	416	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs548476104 CA3142465	416	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs554679165 CA111142533	416	E>V		No	ClinGen Ensembl
rs748223691 CA3142463	417	M>I		No	ClinGen ExAC gnomAD
CA3142464 rs765924811	417	M>K		No	ClinGen ExAC TOPMed gnomAD
CA358814311 rs1579377301	418	R>K		No	ClinGen Ensembl
CA3142461 rs758247302	421	F>I		No	ClinGen ExAC gnomAD
rs1426057628 CA358814284	422	I>V		No	ClinGen gnomAD
CA3142459 rs764904885	423	D>N		No	ClinGen ExAC TOPMed gnomAD
rs753486096 CA3142457	424	R>Q		No	ClinGen ExAC gnomAD
CA3142458 rs369207686 COSM447619	424	R>W	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA358814260 rs1411945825	426	K>E		No	ClinGen TOPMed
CA3142453 rs148421929	430	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs148421929 CA358814228	430	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1319821677 CA358814225	431	I>V		No	ClinGen gnomAD
COSM1671439 CA358814213 rs1311868091	433	R>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs772841058 CA111142532	433	R>Q		No	ClinGen TOPMed gnomAD
CA3142451 rs771142846	434	A>G		No	ClinGen ExAC gnomAD
CA3142452 rs759915545	434	A>T		No	ClinGen ExAC gnomAD
rs771142846 CA3142450	434	A>V		No	ClinGen ExAC gnomAD
rs1360192290 CA358814201	435	C>S		No	ClinGen gnomAD
rs749515822 CA3142449	439	A>T		No	ClinGen ExAC gnomAD
CA358814173 rs1164624721	439	A>V		No	ClinGen gnomAD
rs1411021425	441	L>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1425147244 CA358814138	444	N>S		No	ClinGen TOPMed gnomAD
CA358814115 rs1477279041	447	Y>C		No	ClinGen gnomAD
CA3142448 rs773489264	448	W>L		No	ClinGen ExAC gnomAD
TCGA novel	449	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3142447 rs144082170	449	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144082170 CA3142446	449	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1451239592 CA358814095	450	I>T		No	ClinGen TOPMed
CA111142528 rs990020566	451	Y>C		No	ClinGen Ensembl
rs372292473 CA111142527	457	E>K		No	ClinGen ESP gnomAD
CA3142445 rs781103156	459	I>M		No	ClinGen ExAC gnomAD
rs915217485 CA111142526	460	H>R		No	ClinGen TOPMed
CA3142444 rs532546694	462	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1260056462 CA358814003	463	Q>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3142443 rs745747356	464	D>G		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with O75311

No regional properties for O75311

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for O75311

Functions

		Description
EC Number
Subcellular Localization	Postsynaptic cell membrane ; Multi-pass membrane protein Perikaryon Cell projection, dendrite Synapse Cell membrane ; Multi-pass membrane protein	Partially colocalizes with GPHN that is known to mediate receptor clustering at postsynaptic membranes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

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

8 GO annotations of molecular function

Name	Definition
excitatory extracellular ligand-gated ion channel activity	Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts, where channel opening contributes to an increase in membrane potential.
extracellularly glycine-gated chloride channel activity	Enables the transmembrane transfer of a chloride ion by a channel that opens when glycine is bound by the channel complex or one of its constituent parts on the extracellular side of the plasma membrane.
glycine binding	Binding to glycine, aminoethanoic acid.
glycine-gated chloride ion channel activity	Enables the transmembrane transfer of a chloride ion by a channel that opens when glycine has been bound by the channel complex or one of its constituent parts.
metal ion binding	Binding to a metal ion.
neurotransmitter receptor activity	Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity.
transmembrane signaling receptor activity	Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction.
transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	Any transmitter-gated ion channel activity that is involved in regulation of postsynaptic membrane potential.

10 GO annotations of biological process

Name	Definition
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.
chloride transmembrane transport	The process in which chloride is transported across a membrane.
ion transmembrane transport	A process in which an ion is transported across a membrane.
nervous system process	A organ system process carried out by any of the organs or tissues of neurological system.
neuropeptide signaling pathway	A G protein-coupled receptor signaling pathway initiated by a neuropeptide binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process.
protein homooligomerization	The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer.
regulation of membrane potential	Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane.
response to amino acid	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups.
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.
synaptic transmission, glycinergic	The vesicular release of glycine from a presynapse, across a chemical synapse, the subsequent activation of glycine 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.

23 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P57695	GLRA1	Glycine receptor subunit alpha-1	Bos taurus (Bovine)	PR
Q9GJS9	GLRB	Glycine receptor subunit beta	Bos taurus (Bovine)	PR
Q94900	GluClalpha	Glutamate-gated chloride channel	Drosophila melanogaster (Fruit fly)	PR
P14867	GABRA1	Gamma-aminobutyric acid receptor subunit alpha-1	Homo sapiens (Human)	PR
O14764	GABRD	Gamma-aminobutyric acid receptor subunit delta	Homo sapiens (Human)	PR
Q9UN88	GABRQ	Gamma-aminobutyric acid receptor subunit theta	Homo sapiens (Human)	PR
P11230	CHRNB1	Acetylcholine receptor subunit beta	Homo sapiens (Human)	PR
Q15825	CHRNA6	Neuronal acetylcholine receptor subunit alpha-6	Homo sapiens (Human)	PR
Q05901	CHRNB3	Neuronal acetylcholine receptor subunit beta-3	Homo sapiens (Human)	PR
P30532	CHRNA5	Neuronal acetylcholine receptor subunit alpha-5	Homo sapiens (Human)	PR
P32297	CHRNA3	Neuronal acetylcholine receptor subunit alpha-3	Homo sapiens (Human)	PR
P48167	GLRB	Glycine receptor subunit beta	Homo sapiens (Human)	PR
P23415	GLRA1	Glycine receptor subunit alpha-1	Homo sapiens (Human)	PR
P48168	Glrb	Glycine receptor subunit beta	Mus musculus (Mouse)	PR
Q64018	Glra1	Glycine receptor subunit alpha-1	Mus musculus (Mouse)	PR
Q91XP5	Glra3	Glycine receptor subunit alpha-3	Mus musculus (Mouse)	PR
P20781	Glrb	Glycine receptor subunit beta	Rattus norvegicus (Rat)	PR
P07727	Glra1	Glycine receptor subunit alpha-1	Rattus norvegicus (Rat)	PR
P24524	Glra3	Glycine receptor subunit alpha-3	Rattus norvegicus (Rat)	PR
Q09453	ggr-1	Glycine receptor subunit beta-type 4	Caenorhabditis elegans	PR
Q17328	glc-2	Glutamate-gated chloride channel subunit beta	Caenorhabditis elegans	PR
P41849	lgc-50	Ligand-gated ion channel 50	Caenorhabditis elegans	PR
O93430	glra1	Glycine receptor subunit alphaZ1	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MAHVRHFRTL	VSGFYFWEAA	LLLSLVATKE	TDSARSRSAP	MSPSDFLDKL	MGRTSGYDAR
70	80	90	100	110	120
IRPNFKGPPV	NVTCNIFINS	FGSIAETTMD	YRVNIFLRQK	WNDPRLAYSE	YPDDSLDLDP
130	140	150	160	170	180
SMLDSIWKPD	LFFANEKGAN	FHEVTTDNKL	LRIFKNGNVL	YSIRLTLTLS	CPMDLKNFPM
190	200	210	220	230	240
DVQTCIMQLE	SFGYTMNDLI	FEWQDEAPVQ	VAEGLTLPQF	LLKEEKDLRY	CTKHYNTGKF
250	260	270	280	290	300
TCIEVRFHLE	RQMGYYLIQM	YIPSLLIVIL	SWVSFWINMD	AAPARVALGI	TTVLTMTTQS
310	320	330	340	350	360
SGSRASLPKV	SYVKAIDIWM	AVCLLFVFSA	LLEYAAVNFV	SRQHKELLRF	RRKRKNKTEA
370	380	390	400	410	420
FALEKFYRFS	DMDDEVRESR	FSFTAYGMGP	CLQAKDGMTP	KGPNHPVQVM	PKSPDEMRKV
430	440	450	460
FIDRAKKIDT	ISRACFPLAF	LIFNIFYWVI	YKILRHEDIH	QQQD