AiPD: Autoinhibited Protein Database

Q14344

Gene name	GNA13
Protein name	Guanine nucleotide-binding protein subunit alpha-13
Names	G alpha-13 , G-protein subunit alpha-13
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10672
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)

77-199 (α-H domain) SS

Target domain	206-371 (Ras-like domain)
Relief mechanism	Ligand binding, Partner binding
Assay

AID

77-199 (α-H domain)

Target domain

206-371 (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

6 structures for Q14344

Entry ID	Method	Resolution	Chain	Position	Source
7SF7	EM	290 A	B	17-377	PDB
7SF8	EM	270 A	B	17-377	PDB
7T6B	EM	319 A	A	17-377	PDB
7YDH	EM	310 A	A	17-377	PDB
8H8J	EM	320 A	A	34-377	PDB
AF-Q14344-F1	Predicted				AlphaFoldDB

313 variants for Q14344

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1908071705	2	A>V		No	Ensembl
rs1281059572	6	P>L		No	TOPMed gnomAD
rs771909520	6	P>S		No	ExAC gnomAD
COSM1303207	7	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1908070866	8	R>G		No	gnomAD
rs1450100547	8	R>L		No	gnomAD
COSM5170677	8	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs773338310	9	S>T		No	ExAC gnomAD
rs1204451996	11	L>Q		No	TOPMed gnomAD
rs1484381948	12	S>P		No	gnomAD
rs1394622239	13	V>E		No	gnomAD
rs1210500843	13	V>M		No	TOPMed gnomAD
rs1908069356	14	C>F		No	Ensembl
rs200798977	14	C>W		No	1000Genomes ExAC gnomAD
rs981601204	15	F>L		No	TOPMed gnomAD
rs1272300170	15	F>L		No	gnomAD
rs781422742	16	P>S		No	ExAC
rs1421154389	17	G>C		No	TOPMed gnomAD
rs1421154389	17	G>R		No	TOPMed gnomAD
rs1421154389	17	G>S		No	TOPMed gnomAD
rs1397367984	20	L>R		No	TOPMed gnomAD
rs1365272450	21	T>A		No	gnomAD
rs1312350789	21	T>R		No	TOPMed
rs1313821721	22	S>N		No	TOPMed gnomAD
rs1313821721	22	S>T		No	TOPMed gnomAD
rs949785919	25	A>T		No	TOPMed gnomAD
COSM982995	27	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	28	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1055360347	30	K>R		No	TOPMed
rs1908066620	32	K>*		No	Ensembl
rs367977246	32	K>N		No	ESP ExAC gnomAD
rs1303102438	32	K>R		No	gnomAD
rs1908065978	37	C>S		No	Ensembl
rs1431023781	37	C>W		No	gnomAD
TCGA novel	37	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1908065518	39	S>C		No	TOPMed
rs1225223462	40	R>G		No	Ensembl
rs1278971927	41	E>G		No	TOPMed
COSM275315	42	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs937598382	43	T>I		No	TOPMed gnomAD
rs201316886	44	Y>C		No	1000Genomes TOPMed gnomAD
rs201316886	44	Y>F		No	1000Genomes TOPMed gnomAD
rs201316886	44	Y>S		No	1000Genomes TOPMed gnomAD
COSM3362302	46	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs866627710	47	R>L		No	Ensembl
rs753352986	47	R>W		No	ExAC gnomAD
rs763855583	48	L>M		No	ExAC gnomAD
COSM1580953 rs763855583	48	L>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ExAC gnomAD
rs78590636	49	V>G		No	ExAC gnomAD
TCGA novel	50	K>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs752503576	50	K>E		No	ExAC
rs767330120	51	I>M		No	ExAC gnomAD
rs1365454205	53	L>V		No	Ensembl
rs1323009379	56	A>S		No	gnomAD
COSM1303206	58	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	59	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM4068759	61	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs368009337	65	L>V		No	gnomAD
rs1908061539	67	Q>*		No	Ensembl
rs1908061421	67	Q>H		No	gnomAD
TCGA novel	70	I>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1598505876	73	G>R		No	Ensembl
TCGA novel	73	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs374873980	74	Q>P		No	Ensembl
rs766263530	75	D>E		No	ExAC gnomAD
rs547541013	75	D>H		No	1000Genomes TOPMed
rs547541013	75	D>N		No	1000Genomes TOPMed
rs1365451156	76	F>L		No	gnomAD
rs1162010335	77	D>A		No	gnomAD
TCGA novel	77	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1908060247	78	Q>*		No	TOPMed
rs1598505850	78	Q>R		No	Ensembl
rs1908060044	79	R>H		No	Ensembl
rs1369137082	82	E>Q		No	gnomAD
rs1390831911	83	E>D		No	Ensembl
rs1908059424	83	E>Q		No	gnomAD
rs1471769938	84	F>C		No	gnomAD
rs1908059001	87	T>A		No	Ensembl
rs1409446714	87	T>I		No	gnomAD
rs1908059001	87	T>S		No	Ensembl
rs1184024197	88	I>M		No	gnomAD
rs1463556900	88	I>V		No	TOPMed gnomAD
rs776632322	89	Y>C		No	ExAC TOPMed gnomAD
rs768761767	90	S>C		No	ExAC gnomAD
rs1489167591	93	I>L		No	gnomAD
rs527869765	94	K>T		No	1000Genomes ExAC gnomAD
COSM3783090	96	M>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3989245	98	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1441524682	98	V>M		No	gnomAD
rs1907938446	99	L>V		No	gnomAD
rs1598503863	100	V>A		No	Ensembl
COSM982993 rs755620237	103	R>*	Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs755620237	103	R>G		No	ExAC gnomAD
rs200512437	103	R>L		No	ESP ExAC TOPMed gnomAD
rs200512437	103	R>Q		No	ESP ExAC TOPMed gnomAD
rs200421130	107	H>R		No	1000Genomes ExAC TOPMed gnomAD
rs1367435540	108	I>T		No	TOPMed gnomAD
rs377750035	109	P>L		No	ESP TOPMed
rs754564812	109	P>S		No	ExAC gnomAD
rs1447546663	111	G>E		No	gnomAD
rs1907936480	111	G>R		No	gnomAD
rs1048905622	112	D>G		No	TOPMed gnomAD
TCGA novel	113	N>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs939582792	114	S>L		No	TOPMed gnomAD
rs1278568436	115	N>D		No	TOPMed
rs1278568436	115	N>H		No	TOPMed
rs1907935539	115	N>K		No	Ensembl
rs1907935418	118	H>R		No	TOPMed
COSM5774675	121	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM473214	122	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1375850154	123	M>L		No	gnomAD
TCGA novel	124	S>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1167868480	124	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1167868480	124	S>W		No	TOPMed gnomAD
TCGA novel	125	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1322265190	128	R>Q		No	TOPMed
rs1223124647	129	A>P		No	TOPMed
rs1907934183	130	P>S		No	TOPMed
rs750335472	131	M>L		No	ExAC gnomAD
rs765048472	131	M>T		No	ExAC gnomAD
rs750335472	131	M>V		No	ExAC gnomAD
rs1567829626	132	A>T		No	Ensembl
rs201253039	134	Q>H		No	1000Genomes ExAC TOPMed gnomAD
rs1907933322	136	M>V		No	Ensembl
rs1443341189	137	V>M		No	TOPMed gnomAD
rs141288232	138	E>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1907932879	139	T>A		No	Ensembl
rs767787782	139	T>R		No	ExAC gnomAD
TCGA novel	140	R>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1167702310	140	R>K		No	TOPMed
rs1276007470	141	V>D		No	gnomAD
rs1276007470	141	V>G		No	gnomAD
rs116700192	141	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs956719468	144	Q>K		No	TOPMed
rs1354336837	144	Q>P		No	gnomAD
rs1907931025	145	Y>H		No	Ensembl
rs771399698	146	L>F		No	ExAC gnomAD
rs2143833473	146	L>R		No	Ensembl
rs1420414415	147	P>L		No	TOPMed gnomAD
rs935610270	147	P>S		No	TOPMed gnomAD
rs1407896556	149	I>M		No	gnomAD
rs201626569	149	I>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2143833425	154	A>V		No	Ensembl
rs191483051	156	S>G		No	1000Genomes TOPMed gnomAD
rs141132978	156	S>R		No	ESP ExAC TOPMed gnomAD
rs770151406	157	G>S		No	ExAC TOPMed gnomAD
rs747705355	158	I>L		No	ExAC TOPMed gnomAD
rs1907929370	158	I>M		No	TOPMed
rs2143833399	158	I>T		No	Ensembl
rs979645920	159	Q>R		No	TOPMed gnomAD
rs780500325	161	A>T		No	ExAC gnomAD
rs1944484066	161	A>V		No	TOPMed
rs150997140	162	Y>C		No	ESP TOPMed
TCGA novel	162	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1598503625	163	D>N		No	TOPMed
rs768361426	164	R>G		No	ExAC TOPMed gnomAD
rs1907928012 COSM215703	164	R>Q	central_nervous_system [Cosmic]	No	cosmic curated TOPMed
rs768361426	164	R>W		No	ExAC TOPMed gnomAD
rs1598503605	165	R>C		No	Ensembl
rs746647941	165	R>H		No	ExAC TOPMed gnomAD
COSM6081726	166	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1019200066	166	R>G		No	Ensembl
rs1567829514	167	E>G		No	Ensembl
rs755140947	171	G>A		No	ExAC gnomAD
rs781462512	171	G>S		No	ExAC gnomAD
rs751639376	172	E>G		No	ExAC TOPMed gnomAD
COSM4938570	173	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs766721345	174	V>A		No	ExAC
rs1906457096	174	V>L		No	Ensembl
rs758481005	175	K>R		No	ExAC gnomAD
rs1458546028	177	F>C		No	gnomAD
rs1175855522	182	D>H		No	gnomAD
rs753866333	183	K>E		No	gnomAD
rs1427818827	184	L>V		No	gnomAD
rs1483165501	185	G>A		No	TOPMed gnomAD
rs1255655092	190	I>M		No	gnomAD
rs1179269035	193	Q>P		No	TOPMed gnomAD
rs780276984	194	Q>R		No	ExAC TOPMed gnomAD
rs758704526	196	I>S		No	ExAC gnomAD
rs758704526	196	I>T		No	ExAC gnomAD
rs1400567095	198	L>F		No	TOPMed
COSM3795970	200	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM254703	200	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2143766476	200	R>T		No	Ensembl
rs750584124	204	K>E		No	ExAC gnomAD
rs765670502	204	K>R		No	ExAC gnomAD
COSM3820275	208	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM275314 rs754149325	210	D>N	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1598477816	212	E>A		No	Ensembl
rs1311495079	212	E>K		No	gnomAD
TCGA novel	215	N>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	215	N>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1020629751	216	V>I		No	TOPMed gnomAD
rs1906303105	219	K>T		No	TOPMed gnomAD
rs759273182	220	M>I		No	ExAC TOPMed gnomAD
rs766915568	220	M>V		No	ExAC TOPMed gnomAD
VAR_017160 rs1062597	221	V>L		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1906302263	231	K>R		No	gnomAD
COSM982990 rs1368032781	232	R>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1906302012	232	R>H		No	Ensembl
rs1162938832	233	W>C		No	gnomAD
rs957774501	234	F>L		No	TOPMed
rs749049765	238	D>H		No	ExAC TOPMed gnomAD
COSM1680010 rs749049765	238	D>N	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1906300967	239	S>R		No	Ensembl
rs1325117879	239	S>T		No	TOPMed
COSM4068758	240	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs773072737	243	I>V		No	ExAC TOPMed gnomAD
rs1906300208	245	F>L		No	TOPMed gnomAD
rs1438004926	247	V>A		No	TOPMed gnomAD
rs1906299981	248	S>T		No	Ensembl
rs748083796	249	S>*		No	ExAC gnomAD
rs769918719	249	S>A		No	ExAC gnomAD
TCGA novel	249	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1207069656	253	D>E		No	TOPMed gnomAD
rs1906299279	254	Q>E		No	TOPMed
rs1231476177	254	Q>R		No	TOPMed
rs2143766119	255	V>G		No	1000Genomes
rs1480664885	255	V>M		No	gnomAD
COSM3362301	256	L>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs868396276	258	E>K		No	Ensembl
COSM982989	260	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM707624	260	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs745917724	263	N>S		No	ExAC TOPMed gnomAD
rs542259871	263	N>Y		No	1000Genomes ExAC gnomAD
rs528941392	264	R>C		No	1000Genomes ExAC gnomAD
rs1228101570	264	R>H		No	TOPMed gnomAD
rs1906298215	266	T>A		No	TOPMed
rs1906298094	266	T>I		No	TOPMed
TCGA novel	272	F>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs754269916	273	E>G		No	ExAC gnomAD
rs1324234955	274	T>I		No	TOPMed gnomAD
rs778102560	275	I>V		No	ExAC TOPMed gnomAD
rs563262712	276	V>F		No	1000Genomes ExAC TOPMed gnomAD
rs563262712	276	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs113503987	277	N>D		No	Ensembl
rs1291905406	277	N>S		No	TOPMed gnomAD
COSM982988 rs199660009	279	R>Q	endometrium [Cosmic]	No	cosmic curated Ensembl
rs1906296680	279	R>W		No	Ensembl
TCGA novel	281	F>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1158712747	282	S>G		No	gnomAD
rs375578952	283	N>S		No	ESP ExAC TOPMed gnomAD
rs375578952	283	N>T		No	ESP ExAC TOPMed gnomAD
rs779924076	286	I>V		No	Ensembl
rs765950706	288	L>V		No	ExAC
rs773199144	297	E>A		No	ExAC gnomAD
rs773199144	297	E>V		No	ExAC gnomAD
rs1469426156	298	E>A		No	gnomAD
rs2143765892	300	V>A		No	Ensembl
rs769688760	300	V>M		No	ExAC gnomAD
rs1906294250	301	Q>R		No	TOPMed
rs1330977115	302	I>T		No	gnomAD
rs1037001980	308	Y>H		No	TOPMed gnomAD
rs768587363	309	F>I		No	ExAC gnomAD
rs745945642	310	L>P		No	ExAC gnomAD
COSM1680008	311	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs779049963	311	E>Q		No	ExAC TOPMed gnomAD
rs2143765820	316	P>L		No	Ensembl
rs749493486	316	P>S		No	ExAC gnomAD
COSM982987	316	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs756503153	317	H>R		No	ExAC gnomAD
rs1437667033	317	H>Y		No	TOPMed gnomAD
rs2143765801	318	C>Y		No	Ensembl
rs757910798	321	D>E		No	gnomAD
TCGA novel	321	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs753013543	322	V>I		No	ExAC gnomAD
rs1906291983	324	K>I		No	Ensembl
rs376356001	327	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs376356001	327	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM3521009	328	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM6081727	328	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs551449071	331	R>L		No	TOPMed gnomAD
rs551449071	331	R>Q		No	TOPMed gnomAD
rs200032909	331	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1206045080	332	N>H		No	gnomAD
rs765899545	332	N>I		No	ExAC TOPMed gnomAD
rs765899545	332	N>S		No	ExAC TOPMed gnomAD
rs2143765696	333	K>I		No	Ensembl
rs2143765696	333	K>R		No	Ensembl
rs2143765696	333	K>T		No	Ensembl
COSM982986 rs762741889	334	R>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs757715203	334	R>H		No	TOPMed gnomAD
rs757715203	334	R>L		No	TOPMed gnomAD
rs750066119	335	R>Q		No	ExAC TOPMed gnomAD
rs1428893998	335	R>W		No	TOPMed
rs2143765660	336	D>N		No	Ensembl
TCGA novel	337	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1433020031	338	Q>P		No	gnomAD
TCGA novel	339	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1906289888	341	P>T		No	gnomAD
rs1328383661	342	L>I		No	TOPMed gnomAD
TCGA novel	344	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1438174018	348	T>A		No	gnomAD
TCGA novel	348	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2143765600	349	A>T		No	Ensembl
rs2143765590	349	A>V		No	Ensembl
COSM4766828	350	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1382522056	350	I>V		No	gnomAD
rs2143765559	352	T>M		No	Ensembl
TCGA novel	354	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1402962341	356	R>C		No	TOPMed
rs1322796021	356	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs2143765523	360	R>H		No	Ensembl
TCGA novel	361	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1906288237	362	V>L		No	TOPMed
COSM982985 rs1906288237	362	V>M	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs144334275	365	T>S		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM1208386 rs556073307	366	I>V	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ExAC gnomAD
TCGA novel	369	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1906287381	370	N>T		No	TOPMed
COSM4170812	374	L>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM982984	374	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM473213	375	M>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic

No associated diseases with Q14344

No regional properties for Q14344

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q14344

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Lipid-anchor Melanosome Cytoplasm Nucleus	Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065) Detected in the cytoplasm of Leydig cells and in the seminiferous epithelium, including differentiating cells from the spermatogonia to mature spermatozoa stages (PubMed:18703424) In round spermatids, also present in the nuclei (PubMed:18703424)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
brush border membrane	The portion of the plasma membrane surrounding the brush border.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
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.
melanosome	A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

6 GO annotations of molecular function

Name	Definition
D5 dopamine receptor binding	Binding to a D5 dopamine 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
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
metal ion binding	Binding to a metal ion.

15 GO annotations of biological process

Name	Definition
adenylate cyclase-activating G protein-coupled receptor signaling pathway	A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of adenylyl cyclase activity and a subsequent increase in the intracellular concentration of cyclic AMP (cAMP).
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).
branching involved in blood vessel morphogenesis	The process of coordinated growth and sprouting of blood vessels giving rise to the organized vascular system.
cell differentiation	The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
in utero embryonic development	The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
negative regulation of vascular associated smooth muscle cell migration	Any process that stops, prevents or reduces the frequency, rate or extent of vascular associated smooth muscle cell migration.
negative regulation of vascular associated smooth muscle cell proliferation	Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle cell proliferation.
platelet activation	A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug.
positive regulation of cytosolic calcium ion concentration	Any process that increases the concentration of calcium ions in the cytosol.
regulation of blood pressure	Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure.
regulation of cell shape	Any process that modulates the surface configuration of a cell.
regulation of fibroblast migration	Any process that modulates the rate, frequency or extent of fibroblast cell migration. Fibroblast cell migration is accomplished by extension and retraction of a pseudopodium.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.
Rho protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Rho family of proteins switching to a GTP-bound active state.
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.

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
P0C7Q4	GNAT3	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
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
Q03113	GNA12	Guanine nucleotide-binding protein subunit alpha-12	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
O95837	GNA14	Guanine nucleotide-binding protein subunit alpha-14	Homo sapiens (Human)	SS
P50148	GNAQ	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P38405	GNAL	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
A8MTJ3	GNAT3	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P19087	GNAT2	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P11488	GNAT1	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P04899	GNAI2	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P08754	GNAI3	Guanine nucleotide-binding protein G	Homo sapiens (Human)	SS
P19086	GNAZ	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
Q3V3I2	Gnat3	Guanine nucleotide-binding protein G	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
P27601	Gna13	Guanine nucleotide-binding protein subunit alpha-13	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
P29348	Gnat3	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
Q0DJ33	GPA1	Guanine nucleotide-binding protein alpha-1 subunit	Oryza sativa subsp. japonica (Rice)	SS
O76584	gpa-11	Guanine nucleotide-binding protein alpha-11 subunit	Caenorhabditis elegans	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
Q93743	gpa-6	Guanine nucleotide-binding protein alpha-6 subunit	Caenorhabditis elegans	SS
Q20907	gpa-8	Guanine nucleotide-binding protein alpha-8 subunit	Caenorhabditis elegans	PR
P91907	gpa-15	Guanine nucleotide-binding protein alpha-15 subunit	Caenorhabditis elegans	SS
Q21917	gpa-7	Guanine nucleotide-binding protein alpha-7 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
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
MADFLPSRSV	LSVCFPGCLL	TSGEAEQQRK	SKEIDKCLSR	EKTYVKRLVK	ILLLGAGESG
70	80	90	100	110	120
KSTFLKQMRI	IHGQDFDQRA	REEFRPTIYS	NVIKGMRVLV	DAREKLHIPW	GDNSNQQHGD
130	140	150	160	170	180
KMMSFDTRAP	MAAQGMVETR	VFLQYLPAIR	ALWADSGIQN	AYDRRREFQL	GESVKYFLDN
190	200	210	220	230	240
LDKLGEPDYI	PSQQDILLAR	RPTKGIHEYD	FEIKNVPFKM	VDVGGQRSER	KRWFECFDSV
250	260	270	280	290	300
TSILFLVSSS	EFDQVLMEDR	LTNRLTESLN	IFETIVNNRV	FSNVSIILFL	NKTDLLEEKV
310	320	330	340	350	360
QIVSIKDYFL	EFEGDPHCLR	DVQKFLVECF	RNKRRDQQQK	PLYHHFTTAI	NTENIRLVFR
370
DVKDTILHDN	LKQLMLQ