AiPD: Autoinhibited Protein Database

A8MTJ3

Gene name	GNAT3
Protein name	Guanine nucleotide-binding protein G
Names	t subunit alpha-3 , Gustducin alpha-3 chain
Species	Homo sapiens (Human)
KEGG Pathway	hsa:346562
EC number
Protein Class

Descriptions

Gαi1 is a G-protein alpha subunit that plays a crucial role in signal transduction pathway initiated by G-protein-coupled receptor (GPCR) activation. G proteins function as transducers downstream of GPCRs in numerous signaling cascades. The alpha subunit contains the guanine nucleotide binding site and alternates between an active (GTP-bound state) and an inactive (GDP-bound state). Activated GPCR induces conformational change in Gαi1, which allows for GDP-to-GTP exchange by binding to the GPCR-binding site within a Ras-like domain, leading to dissociation of the Gαi1 subunit and initiation of downstream signaling.

Autoinhibitory domains (AIDs)

62-177 (α-H domain) SS

Target domain	184-348 (Ras-like domain)
Relief mechanism	Ligand binding, Partner binding
Assay

AID

62-177 (α-H domain)

Target domain

184-348 (Ras-like domain)

Relief mechanism

Ligand binding (GTP binding), Partner binding(Binding of activated GPCR)

Assay

Accessory elements

No accessory elements

References

Goricanec D et al. (2016) "Conformational dynamics of a G-protein α subunit is tightly regulated by nucleotide binding", Proceedings of the National Academy of Sciences of the United States of America, 113, E3629-38

Coleman DE et al. (1999) "Structure of Gialpha1.GppNHp, autoinhibition in a galpha protein-substrate complex", The Journal of biological chemistry, 274, 16669-72

Lutz S et al. (2007) "Structure of Galphaq-p63RhoGEF-RhoA complex reveals a pathway for the activation of RhoA by GPCRs", Science (New York, N.Y.), 318, 1923-7

Autoinhibited structure

Activated structure

1 structures for A8MTJ3

Entry ID	Method	Resolution	Chain	Position	Source
AF-A8MTJ3-F1	Predicted				AlphaFoldDB

400 variants for A8MTJ3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1791074607	2	G>E		No	TOPMed
rs1441940846	2	G>R		No	gnomAD
rs751586531	3	S>N		No	ExAC
rs766552698	5	I>S		No	ExAC gnomAD
rs766552698	5	I>T		No	ExAC gnomAD
rs1166939778	5	I>V		No	gnomAD
COSM1092050 rs1483115199 COSM1092049	8	E>D	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs1040824688	9	S>I		No	Ensembl
rs773511062	9	S>R		No	ExAC TOPMed gnomAD
rs1471878299	11	E>*		No	gnomAD
rs770211489	11	E>G		No	ExAC gnomAD
rs1464675807	13	A>T		No	1000Genomes TOPMed gnomAD
rs1173010829	14	K>Q		No	TOPMed gnomAD
rs1427012158	14	K>R		No	TOPMed
rs754569137	15	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs754569137	15	R>K		No	ExAC TOPMed gnomAD
rs769238589	15	R>S		No	ExAC TOPMed gnomAD
rs1791072633	16	S>*		No	Ensembl
rs375872413	16	S>P		No	ESP ExAC gnomAD
rs542314215	17	K>N		No	1000Genomes ExAC TOPMed gnomAD
rs1791072575	17	K>R		No	TOPMed
rs1791072322	19	L>R		No	Ensembl
rs1335758404	20	E>K		No	TOPMed
TCGA novel	21	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1226072985	22	K>M		No	TOPMed gnomAD
rs200959065	22	K>N		No	ExAC TOPMed
rs1226072985	22	K>T		No	TOPMed gnomAD
rs933325355	23	L>F		No	TOPMed gnomAD
rs1791071630	24	Q>P		No	gnomAD
rs1791071494	25	E>*		No	TOPMed
rs757076224	25	E>D		No	ExAC TOPMed gnomAD
COSM748027 rs1791071494 COSM748026	25	E>K	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs73369087	26	D>A		No	1000Genomes ExAC TOPMed gnomAD
rs73369087	26	D>G		No	1000Genomes ExAC TOPMed gnomAD
rs753586831	26	D>N		No	ExAC TOPMed gnomAD
rs751707136	29	R>*		No	ExAC TOPMed gnomAD
rs766471084	29	R>Q		No	ExAC TOPMed gnomAD
rs372150618	30	D>A		No	ESP ExAC TOPMed gnomAD
rs143118835	31	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM261114 COSM261113	32	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1246491968	33	T>A		No	gnomAD
rs533524866	33	T>N		No	1000Genomes ExAC TOPMed gnomAD
rs1246491968	33	T>P		No	gnomAD
rs938907026	34	V>E		No	Ensembl
rs375145572 COSM3882569 COSM3882570	34	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs186086930	36	L>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1791070066	36	L>P		No	TOPMed
TCGA novel	36	L>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1339601618	37	L>P		No	gnomAD
rs774920344	37	L>V		No	ExAC TOPMed gnomAD
rs771625680	38	L>Q		No	ExAC TOPMed gnomAD
rs1441299081	39	L>V		No	gnomAD
rs745305676	40	G>R		No	ExAC gnomAD
rs1022577828	41	A>T		No	Ensembl
COSM4912117 COSM4912116	41	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	43	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1790680383	43	E>K		No	Ensembl
rs1790680329	44	S>F		No	Ensembl
rs1314938115	47	S>R		No	gnomAD
rs776068977	47	S>T		No	ExAC gnomAD
rs2116207926	48	T>S		No	Ensembl
rs767866686	49	I>V		No	ExAC gnomAD
rs867495104	50	V>F		No	Ensembl
rs1419251582	52	Q>H		No	TOPMed gnomAD
rs1421305086	53	M>R		No	gnomAD
rs1413281589	54	K>R		No	gnomAD
rs1336820240	55	I>F		No	TOPMed gnomAD
rs1266016354	56	I>V		No	gnomAD
rs1790535068	57	H>R		No	Ensembl
rs762648351	58	K>E		No	ExAC TOPMed gnomAD
TCGA novel	58	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1310760691	58	K>R		No	gnomAD
rs1366265747	60	G>V		No	gnomAD
rs1320297094	64	Q>E		No	TOPMed gnomAD
rs777150473	65	E>G		No	Ensembl
rs1790534325	67	M>T		No	TOPMed
rs1790534274	68	E>Q		No	Ensembl
rs1397296795	70	K>N		No	gnomAD
rs1346335131	71	A>S		No	TOPMed gnomAD
rs757609166	72	V>A		No	ExAC TOPMed gnomAD
rs1790533994	72	V>I		No	TOPMed
rs778073876	73	I>T		No	ExAC TOPMed
rs754124323	73	I>V		No	ExAC TOPMed gnomAD
rs756575164	74	Y>C		No	ExAC TOPMed gnomAD
rs756575164	74	Y>S		No	ExAC TOPMed gnomAD
rs2116191920	75	S>C		No	Ensembl
rs1247074330	75	S>I		No	TOPMed gnomAD
rs1247074330	75	S>N		No	TOPMed gnomAD
rs1247074330	75	S>T		No	TOPMed gnomAD
rs752951446	76	N>S		No	ExAC
rs573082324	78	L>*		No	1000Genomes ExAC gnomAD
rs377657840	79	Q>R		No	ESP ExAC TOPMed gnomAD
rs1355656169	80	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
COSM1092048 COSM1092047	81	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	82	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1263742910	83	A>G		No	gnomAD
rs762387267	84	I>M		No	ExAC gnomAD
rs772886967	85	V>L		No	ExAC gnomAD
COSM1092045 rs772886967 COSM1092046	85	V>M	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1297201545	87	A>G		No	gnomAD
TCGA novel	87	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs369453320	88	M>I		No	ESP ExAC TOPMed gnomAD
rs761717231	88	M>L		No	ExAC TOPMed gnomAD
rs1476968682	88	M>R		No	TOPMed
rs761717231	88	M>V		No	ExAC TOPMed gnomAD
rs529046839	89	T>A		No	gnomAD
rs746905665	90	T>I		No	ExAC TOPMed gnomAD
rs6956292	91	L>F		No	TOPMed gnomAD
rs6956292	91	L>I		No	TOPMed gnomAD
rs374920999	92	G>R		No	ESP TOPMed gnomAD
rs1389122783	94	D>N		No	gnomAD
rs1455369948	96	V>L		No	gnomAD
rs545908202	97	N>K		No	1000Genomes ExAC TOPMed gnomAD
rs771137976	100	S>I		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	100	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs771137976	100	S>T		No	1000Genomes ExAC TOPMed gnomAD
rs935051492	101	A>S		No	TOPMed gnomAD
rs935051492	101	A>T		No	TOPMed gnomAD
rs748334448	102	E>D		No	ExAC gnomAD
rs1790348331	103	D>N		No	TOPMed gnomAD
rs200422530 COSM3029714 COSM3029715	105	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs75075195	105	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1790348120	106	Q>*		No	TOPMed
rs780587404	107	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1790347984	107	L>P		No	gnomAD
rs1584177335	108	Y>C		No	Ensembl
rs527289991	108	Y>H		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	109	A>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1412502203	109	A>T		No	TOPMed gnomAD
rs750003856	109	A>V		No	ExAC TOPMed gnomAD
rs764641614	110	M>R		No	ExAC gnomAD
rs764641614	110	M>T		No	ExAC gnomAD
rs756732146	111	A>E		No	ExAC gnomAD
rs753435900	112	N>D		No	ExAC gnomAD
rs763761945	113	T>I		No	ExAC TOPMed gnomAD
rs1790347465	114	L>M		No	Ensembl
TCGA novel	114	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1249401629	115	E>*		No	TOPMed gnomAD
rs1249401629	115	E>K		No	TOPMed gnomAD
COSM3924000 COSM3923999	117	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1440996036	119	M>V		No	gnomAD
rs1350609446	120	T>K		No	gnomAD
rs370507981	121	P>L		No	ESP ExAC TOPMed gnomAD
rs571120313	123	L>P		No	1000Genomes ExAC gnomAD
rs1266830257	124	A>T		No	gnomAD
rs769770336	124	A>V		No	ExAC gnomAD
rs1379301335	125	E>D		No	gnomAD
COSM3640805 COSM3640804	125	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1480385888	127	I>M		No	TOPMed gnomAD
rs1790346701	128	K>N		No	TOPMed
rs748220870	128	K>Q		No	ExAC gnomAD
rs767119396	129	R>G		No	ExAC TOPMed gnomAD
COSM602379 COSM602378 rs768900454	129	R>Q	lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs767119396	129	R>W		No	ExAC TOPMed gnomAD
COSM453440 COSM453441	131	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs80209122	131	W>G		No	Ensembl
rs200010494	133	D>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs967675472	134	P>T		No	gnomAD
rs1347852735	136	I>F		No	gnomAD
TCGA novel	137	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1166872509	137	Q>R		No	gnomAD
rs1407092324	138	A>G		No	gnomAD
rs1790346029	138	A>T		No	TOPMed
rs563109339	139	C>*		No	1000Genomes ExAC TOPMed gnomAD
rs1464134120	139	C>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
TCGA novel	141	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs746390156	143	A>S		No	ExAC gnomAD
rs746390156	143	A>T		No	ExAC gnomAD
rs1790345613	144	S>A		No	TOPMed
rs1411392960	146	Y>*		No	gnomAD
rs1471928871	146	Y>H		No	gnomAD
rs1790345367	148	L>F		No	gnomAD
rs1189583608	148	L>P		No	gnomAD
rs1464742952	149	N>S		No	TOPMed gnomAD
rs529417293	150	D>E		No	1000Genomes ExAC TOPMed gnomAD
rs1224435572	151	S>L		No	gnomAD
rs1321733858	152	A>E		No	gnomAD
rs1387092774	152	A>T		No	TOPMed gnomAD
rs1321733858	152	A>V		No	gnomAD
rs1226158137	153	A>D		No	gnomAD
rs753336151	153	A>T		No	ExAC gnomAD
TCGA novel	154	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1227232768	155	Y>*		No	TOPMed gnomAD
rs1329059719	156	L>H		No	gnomAD
rs1303133674	158	D>A		No	gnomAD
COSM5152664 COSM5152665	158	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1339711029	158	D>Y		No	gnomAD
rs1267009658	160	D>G		No	gnomAD
rs1461622832	160	D>H		No	TOPMed gnomAD
rs1294367798	161	R>G		No	TOPMed gnomAD
rs1219625295	163	T>K		No	gnomAD
TCGA novel	164	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1273026001	166	G>W		No	gnomAD
rs1372491368	167	Y>C		No	gnomAD
rs766291717	170	N>D		No	ExAC TOPMed gnomAD
rs1790269836	171	E>G		No	TOPMed
rs1790269788	172	Q>K		No	gnomAD
rs1353044937	173	D>V		No	gnomAD
rs761848440	174	V>F		No	ExAC gnomAD
rs761848440	174	V>I		No	ExAC gnomAD
rs768831289	178	R>*		No	ExAC TOPMed gnomAD
rs879833721	178	R>P		No	TOPMed gnomAD
rs879833721	178	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs747221727	179	V>L		No	ExAC TOPMed gnomAD
rs747221727	179	V>M		No	ExAC TOPMed gnomAD
rs775635099	181	T>K		No	ExAC TOPMed gnomAD
COSM3029698 rs775635099 COSM3029699	181	T>M	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1481852685	182	T>I		No	gnomAD
rs1790267375	183	G>V		No	TOPMed
COSM1452202 COSM1452201	184	I>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1210495189	185	I>M		No	gnomAD
rs1790267324	185	I>T		No	TOPMed
rs771442181	187	T>I		No	ExAC gnomAD
rs779307513	187	T>S		No	ExAC TOPMed gnomAD
rs748788470	190	S>F		No	ExAC gnomAD
rs1790266996	191	F>S		No	TOPMed
rs1417410177	192	K>R		No	TOPMed gnomAD
rs539041801	193	D>E		No	1000Genomes ExAC TOPMed gnomAD
rs1351090681	193	D>G		No	TOPMed gnomAD
COSM1092041 COSM1092042	193	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1351090681	193	D>V		No	TOPMed gnomAD
rs1409330544	194	L>*		No	TOPMed gnomAD
rs570030158	194	L>F		No	1000Genomes ExAC TOPMed gnomAD
rs1409330544	194	L>S		No	TOPMed gnomAD
rs780953752	195	H>Q		No	ExAC gnomAD
rs752409250	195	H>Y		No	ExAC gnomAD
rs765117132	197	R>S		No	ExAC gnomAD
rs760763829	198	M>I		No	ExAC TOPMed gnomAD
rs1320397634	198	M>K		No	gnomAD
rs941952148	199	F>S		No	Ensembl
rs752747964	200	D>E		No	ExAC TOPMed gnomAD
rs1476981182	200	D>G		No	TOPMed gnomAD
rs767762279	202	G>S		No	ExAC TOPMed gnomAD
rs759799731	203	G>R		No	ExAC gnomAD
rs750524391	203	G>V		No	Ensembl
TCGA novel	205	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1382964603	205	R>T		No	gnomAD
rs1562718895	206	S>P		No	Ensembl
rs1220821769	207	E>Q		No	Ensembl
rs767497845	208	R>K		No	TOPMed gnomAD
rs1395520405	208	R>S		No	TOPMed gnomAD
rs767497845	208	R>T		No	TOPMed gnomAD
rs771339607	209	K>M		No	ExAC gnomAD
rs369987714	209	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC gnomAD NCI-TCGA
rs771339607	209	K>R		No	ExAC gnomAD
rs1790069156	212	I>S		No	Ensembl
rs1453225997	214	C>R		No	gnomAD
rs1405864363	216	E>Q		No	TOPMed
COSM3640803 COSM3640802	217	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs773880375	219	T>A		No	ExAC gnomAD
rs762325597	220	C>G		No	TOPMed gnomAD
rs762325597	220	C>R		No	TOPMed gnomAD
COSM325411 rs1790068764 COSM325412	220	C>Y	lung [Cosmic]	No	cosmic curated TOPMed
rs747702698	221	I>V		No	ExAC gnomAD
rs1342268716	222	I>T		No	TOPMed gnomAD
rs907755810	222	I>V		No	gnomAD
COSM1208402 rs375522580 COSM1208401	223	F>L	large_intestine [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs768484895	225	A>D		No	ExAC gnomAD
rs983253023	225	A>P		No	gnomAD
rs1790068300	226	A>S		No	Ensembl
TCGA novel	228	S>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1224806070	228	S>N		No	1000Genomes TOPMed
rs746692013	229	A>T		No	ExAC gnomAD
rs779508773	229	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs758247751	230	Y>C		No	ExAC TOPMed gnomAD
COSM3640800 COSM3640801	231	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs199873856	232	M>I		No	ESP ExAC TOPMed gnomAD
rs757152594	232	M>R		No	ExAC TOPMed gnomAD
rs757152594	232	M>T		No	ExAC TOPMed gnomAD
rs767571893	233	V>F		No	1000Genomes ExAC TOPMed gnomAD
rs767571893	233	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs2116138310	234	L>V		No	Ensembl
rs1378090030	235	V>A		No	gnomAD
COSM1736684 COSM1736683 rs760141871	235	V>M	central_nervous_system [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1790067590	236	E>K		No	TOPMed
rs2116138266	237	D>N		No	Ensembl
rs2116138260	237	D>V		No	Ensembl
rs138660064	238	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	239	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1790064110	241	N>D		No	TOPMed
rs750875894	242	R>G		No	ExAC gnomAD
COSM1092039 COSM1092040	243	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1790063989	243	M>L		No	TOPMed
rs900082707	244	H>Y		No	TOPMed gnomAD
TCGA novel	245	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1790063870	246	S>I		No	TOPMed
TCGA novel	250	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1790063625	253	I>T		No	TOPMed
rs1228434700	254	C>Y		No	gnomAD
rs1349330775	255	N>D		No	gnomAD
rs2116137674	257	K>T		No	Ensembl
rs777312113	258	Y>C		No	ExAC gnomAD
rs777312113	258	Y>S		No	ExAC gnomAD
rs1335801994	261	T>K		No	gnomAD
rs1790063103	261	T>P		No	TOPMed gnomAD
rs1450242803	262	T>I		No	TOPMed gnomAD
rs1790062872	263	S>P		No	Ensembl
rs774828440	264	I>T		No	ExAC TOPMed gnomAD
rs771820004	266	L>P		No	ExAC gnomAD
rs2116137558 COSM3412319 COSM3412318	267	F>L	central_nervous_system [Cosmic]	No	cosmic curated Ensembl
rs372732114	268	L>F		No	ESP TOPMed gnomAD
rs186804021	269	N>I		No	1000Genomes ExAC TOPMed gnomAD
COSM4970391 COSM4970390 rs186804021	269	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1369322883	270	K>R		No	gnomAD
rs939987382	272	D>H		No	gnomAD
COSM1452199 rs939987382 COSM1452200	272	D>N	large_intestine [Cosmic]	No	cosmic curated gnomAD
rs939987382	272	D>Y		No	gnomAD
rs770717261	273	I>N		No	ExAC TOPMed gnomAD
rs770717261	273	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1790062023	274	F>V		No	TOPMed gnomAD
rs1464789004	275	Q>H		No	TOPMed gnomAD
rs749041022	276	E>D		No	ExAC TOPMed gnomAD
rs2116137463	276	E>K		No	Ensembl
rs368632002	278	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD NCI-TCGA
rs1790061575 TCGA novel	279	T>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs747181121	280	K>N		No	ExAC gnomAD
TCGA novel	282	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1790061258	283	L>V		No	TOPMed
rs936412800	284	S>R		No	TOPMed
rs1047610066	285	I>M		No	Ensembl
rs933173816	286	C>G		No	Ensembl
rs1790060977	286	C>S		No	gnomAD
rs1790060877	288	P>S		No	Ensembl
rs1213827900	294	N>I		No	TOPMed gnomAD
rs1213827900	294	N>T		No	TOPMed gnomAD
rs1789999121	295	T>I		No	TOPMed
rs1276574612	296	F>L		No	gnomAD
TCGA novel	297	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1276353079	298	D>G		No	TOPMed gnomAD
rs1484367408	298	D>N		No	gnomAD
rs1276353079	298	D>V		No	TOPMed gnomAD
TCGA novel rs1438616514	300	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs770521031	301	N>D		No	ExAC TOPMed gnomAD
rs770521031	301	N>Y		No	ExAC TOPMed gnomAD
rs762778706	303	I>N		No	ExAC
COSM1092037 COSM1092038	303	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1422975389	303	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs772879589	304	K>N		No	ExAC TOPMed gnomAD
rs1789998283	305	N>K		No	gnomAD
rs748050219	309	D>E		No	ExAC TOPMed gnomAD
rs371288725	309	D>G		No	ESP ExAC TOPMed gnomAD
COSM3882563 rs1417943997 COSM3882564	310	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1789997904	312	L>F		No	TOPMed gnomAD
TCGA novel	313	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1092035 COSM1092036	314	K>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1480445431	314	K>R		No	TOPMed gnomAD
rs1480445431	314	K>T		No	TOPMed gnomAD
rs753220041	315	E>*		No	ExAC TOPMed gnomAD
COSM2150453 rs748562154 COSM2150454	315	E>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs765543002	316	D>G		No	gnomAD
rs1267550745	316	D>H		No	TOPMed gnomAD
COSM3412317 COSM3412316	316	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1267550745	316	D>Y		No	TOPMed gnomAD
rs1789997547	317	K>E		No	Ensembl
rs773981099	317	K>M		No	TOPMed gnomAD
rs773981099	317	K>R		No	TOPMed gnomAD
COSM3029680 COSM3029679	318	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1274934425	318	E>V		No	gnomAD
rs1789997368	319	I>M		No	gnomAD
TCGA novel	319	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1246968795	320	Y>H		No	gnomAD
rs1045596871	321	S>F		No	TOPMed gnomAD
COSM4947649 rs1789997181 COSM86583	322	H>L	ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated gnomAD
rs1054123151	322	H>Q		No	gnomAD
rs759860687	322	H>Y		No	ExAC gnomAD
COSM6178769 COSM6178770	323	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1219731292	324	T>A		No	gnomAD
rs1340984692	324	T>I		No	TOPMed gnomAD
rs1282696553	326	A>T		No	gnomAD
rs1403238663	326	A>V		No	TOPMed gnomAD
rs1789996641	329	T>I		No	Ensembl
rs757519562	332	V>I		No	1000Genomes ExAC gnomAD
rs1789996407	333	K>R		No	Ensembl
rs1789996363	334	F>L		No	Ensembl
rs929765875	335	V>L		No	TOPMed gnomAD
rs929765875	335	V>M		No	TOPMed gnomAD
rs1789996253	336	F>L		No	gnomAD
rs2074674	337	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs767060552	338	A>T		No	ExAC gnomAD
rs768027647	339	V>G		No	1000Genomes ExAC gnomAD
rs751046204	340	T>A		No	ExAC gnomAD
COSM1092033 COSM1092034	341	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1479485162	342	I>T		No	gnomAD
rs766089131	342	I>V		No	ExAC gnomAD
rs1238988159	343	I>L		No	gnomAD
rs1210610856	343	I>T		No	gnomAD
rs1370157295	344	I>M		No	TOPMed
rs574320957	344	I>V		No	ExAC TOPMed gnomAD
COSM1452197 COSM1452198 rs192064811	346	E>D	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
COSM4519967 COSM4519966	346	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1339627308	348	L>P		No	TOPMed
rs1221723023	349	K>T		No	gnomAD
rs761633220	350	D>H		No	ExAC gnomAD
COSM281415 rs761633220 COSM281414	350	D>Y	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	351	C>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	351	C>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1226293444	352	G>R		No	Ensembl
COSM4850355 COSM4850356	354	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs534902139	354	F>V		No	1000Genomes ExAC TOPMed gnomAD
rs186877232	355	F>Q		No	1000Genomes ExAC gnomAD

No associated diseases with A8MTJ3

6 regional properties for A8MTJ3

Type	Name	Position	InterPro Accession
repeat	Kinesin light chain repeat	362 - 403	IPR015792
repeat	Tetratricopeptide repeat	253 - 286	IPR019734-1
repeat	Tetratricopeptide repeat	295 - 328	IPR019734-2
repeat	Tetratricopeptide repeat	337 - 370	IPR019734-3
repeat	Tetratricopeptide repeat	379 - 412	IPR019734-4
repeat	Tetratricopeptide repeat	464 - 497	IPR019734-5

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm	Dual distribution pattern; plasmalemmal pattern with apical region localization and cytosolic pattern with localization throughout the cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
acrosomal vesicle	A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome.
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
axoneme	The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
heterotrimeric G-protein complex	Any of a family of heterotrimeric GTP-binding and hydrolyzing proteins; they belong to a superfamily of GTPases that includes monomeric proteins such as EF-Tu and RAS. Heterotrimeric G-proteins consist of three subunits; the alpha subunit contains the guanine nucleotide binding site and possesses GTPase activity; the beta and gamma subunits are tightly associated and function as a beta-gamma heterodimer; extrinsic plasma membrane proteins (cytoplasmic face) that function as a complex to transduce signals from G protein-coupled receptors to an effector protein.
photoreceptor inner segment	The inner segment of a vertebrate photoreceptor containing mitochondria, ribosomes and membranes where opsin molecules are assembled and passed to be part of the outer segment discs.
photoreceptor outer segment	The outer segment of a vertebrate photoreceptor that contains a stack of membrane discs embedded with photoreceptor proteins.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

5 GO annotations of molecular function

Name	Definition
G protein-coupled receptor binding	Binding to a G protein-coupled receptor.
G-protein beta/gamma-subunit complex binding	Binding to a complex of G-protein beta/gamma subunits.
GTP binding	Binding to GTP, guanosine triphosphate.
GTPase activity	Catalysis of the reaction
metal ion binding	Binding to a metal ion.

5 GO annotations of biological process

Name	Definition
adenylate cyclase-modulating G protein-coupled receptor signaling pathway	A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation or inhibition of adenylyl cyclase activity and a subsequent change in the intracellular concentration of cyclic AMP (cAMP).
detection of chemical stimulus involved in sensory perception of bitter taste	The series of events required for a bitter taste stimulus to be received and converted to a molecular signal.
response to nicotine	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nicotine stimulus.
sensory perception of sweet taste	The series of events required to receive a sweet taste stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process.
sensory perception of umami taste	The series of events required to receive an umami taste stimulus, convert it to a molecular signal, and recognize and characterize the signal. Umami taste is the savory taste of meats and other foods that are rich in glutamates. This is a neurological process.

61 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P63097	GNAI1	Guanine nucleotide-binding protein G	Bos taurus (Bovine)	SS
P04696	GNAT2	Guanine nucleotide-binding protein G	Bos taurus (Bovine)	SS
P04695	GNAT1	Guanine nucleotide-binding protein G	Bos taurus (Bovine)	SS
P08239	GNAO1	Guanine nucleotide-binding protein G	Bos taurus (Bovine)	SS
P0C7Q4	GNAT3	Guanine nucleotide-binding protein G	Bos taurus (Bovine)	SS
P50147	GNAI2	Guanine nucleotide-binding protein G	Gallus gallus (Chicken)	SS
P50146	GNAI1	Guanine nucleotide-binding protein G	Gallus gallus (Chicken)	SS
P20353	Galphai	G protein alpha i subunit	Drosophila melanogaster (Fruit fly)	SS
P16378	Galphao	G protein alpha o subunit	Drosophila melanogaster (Fruit fly)	SS
P25157	cta	Guanine nucleotide-binding protein subunit alpha homolog	Drosophila melanogaster (Fruit fly)	SS
P08754	GNAI3	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P11488	GNAT1	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P19086	GNAZ	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P19087	GNAT2	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P29992	GNA11	Guanine nucleotide-binding protein subunit alpha-11	Homo sapiens (Human)	SS
P30679	GNA15	Guanine nucleotide-binding protein subunit alpha-15	Homo sapiens (Human)	SS
P50148	GNAQ	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
O95837	GNA14	Guanine nucleotide-binding protein subunit alpha-14	Homo sapiens (Human)	SS
Q14344	GNA13	Guanine nucleotide-binding protein subunit alpha-13	Homo sapiens (Human)	SS
Q03113	GNA12	Guanine nucleotide-binding protein subunit alpha-12	Homo sapiens (Human)	SS
P38405	GNAL	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P04899	GNAI2	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P63096	GNAI1	Guanine nucleotide-binding protein G	Homo sapiens (Human)	EV
P09471	GNAO1	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
Q9DC51	Gnai3	Guanine nucleotide-binding protein G	Mus musculus (Mouse)	SS
P27600	Gna12	Guanine nucleotide-binding protein subunit alpha-12	Mus musculus (Mouse)	SS
P20612	Gnat1	Guanine nucleotide-binding protein G	Mus musculus (Mouse)	SS
P27601	Gna13	Guanine nucleotide-binding protein subunit alpha-13	Mus musculus (Mouse)	SS
O70443	Gnaz	Guanine nucleotide-binding protein G	Mus musculus (Mouse)	SS
P50149	Gnat2	Guanine nucleotide-binding protein G	Mus musculus (Mouse)	SS
P08752	Gnai2	Guanine nucleotide-binding protein G	Mus musculus (Mouse)	SS
B2RSH2	Gnai1	Guanine nucleotide-binding protein G	Mus musculus (Mouse)	SS
P18872	Gnao1	Guanine nucleotide-binding protein G	Mus musculus (Mouse)	SS
Q3V3I2	Gnat3	Guanine nucleotide-binding protein G	Mus musculus (Mouse)	SS
P93564	GPA1	Guanine nucleotide-binding protein alpha-1 subunit	Solanum tuberosum (Potato)	SS
Q63210	Gna12	Guanine nucleotide-binding protein subunit alpha-12	Rattus norvegicus (Rat)	SS
P19627	Gnaz	Guanine nucleotide-binding protein G	Rattus norvegicus (Rat)	SS
P04897	Gnai2	Guanine nucleotide-binding protein G	Rattus norvegicus (Rat)	SS
P59215	Gnao1	Guanine nucleotide-binding protein G	Rattus norvegicus (Rat)	SS
P08753	Gnai3	Guanine nucleotide-binding protein G	Rattus norvegicus (Rat)	SS
Q6Q7Y5	Gna13	Guanine nucleotide-binding protein subunit alpha-13	Rattus norvegicus (Rat)	SS
P29348	Gnat3	Guanine nucleotide-binding protein G	Rattus norvegicus (Rat)	SS
Q0DJ33	GPA1	Guanine nucleotide-binding protein alpha-1 subunit	Oryza sativa subsp. japonica (Rice)	SS
P51875	goa-1	Guanine nucleotide-binding protein G	Caenorhabditis elegans	SS
Q18434	odr-3	Guanine nucleotide-binding protein alpha-17 subunit	Caenorhabditis elegans	SS
Q9BIG4	gpa-10	Guanine nucleotide-binding protein alpha-10 subunit	Caenorhabditis elegans	PR
P28052	gpa-3	Guanine nucleotide-binding protein alpha-3 subunit	Caenorhabditis elegans	SS
Q9XTB2	gpa-13	Guanine nucleotide-binding protein alpha-13 subunit	Caenorhabditis elegans	SS
Q9BIG5	gpa-4	Guanine nucleotide-binding protein alpha-4 subunit	Caenorhabditis elegans	SS
P28051	gpa-1	Guanine nucleotide-binding protein alpha-1 subunit	Caenorhabditis elegans	SS
Q9N2V6	gpa-16	Guanine nucleotide-binding protein alpha-16 subunit	Caenorhabditis elegans	SS
P91907	gpa-15	Guanine nucleotide-binding protein alpha-15 subunit	Caenorhabditis elegans	SS
Q20907	gpa-8	Guanine nucleotide-binding protein alpha-8 subunit	Caenorhabditis elegans	PR
Q21917	gpa-7	Guanine nucleotide-binding protein alpha-7 subunit	Caenorhabditis elegans	SS
Q93743	gpa-6	Guanine nucleotide-binding protein alpha-6 subunit	Caenorhabditis elegans	SS
O76584	gpa-11	Guanine nucleotide-binding protein alpha-11 subunit	Caenorhabditis elegans	SS
P49084	GPA1	Guanine nucleotide-binding protein alpha-1 subunit	Glycine max (Soybean) (Glycine hispida)	SS
P93163	GPA2	Guanine nucleotide-binding protein alpha-2 subunit	Glycine max (Soybean) (Glycine hispida)	SS
O80462	XLG1	Extra-large guanine nucleotide-binding protein 1	Arabidopsis thaliana (Mouse-ear cress)	PR
P18064	GPA1	Guanine nucleotide-binding protein alpha-1 subunit	Arabidopsis thaliana (Mouse-ear cress)	SS
P26981	GPA1	Guanine nucleotide-binding protein alpha-1 subunit	Solanum lycopersicum (Tomato) (Lycopersicon esculentum)	SS

10	20	30	40	50	60
MGSGISSESK	ESAKRSKELE	KKLQEDAERD	ARTVKLLLLG	AGESGKSTIV	KQMKIIHKNG
70	80	90	100	110	120
YSEQECMEFK	AVIYSNTLQS	ILAIVKAMTT	LGIDYVNPRS	AEDQRQLYAM	ANTLEDGGMT
130	140	150	160	170	180
PQLAEVIKRL	WRDPGIQACF	ERASEYQLND	SAAYYLNDLD	RITASGYVPN	EQDVLHSRVK
190	200	210	220	230	240
TTGIIETQFS	FKDLHFRMFD	VGGQRSERKK	WIHCFEGVTC	IIFCAALSAY	DMVLVEDEEV
250	260	270	280	290	300
NRMHESLHLF	NSICNHKYFS	TTSIVLFLNK	KDIFQEKVTK	VHLSICFPEY	TGPNTFEDAG
310	320	330	340	350
NYIKNQFLDL	NLKKEDKEIY	SHMTCATDTQ	NVKFVFDAVT	DIIIKENLKD	CGLF