AiPD: Autoinhibited Protein Database

Q6P9H5

Gene name	GIMAP6 (IAN2, IAN6)
Protein name	GTPase IMAP family member 6
Names	Immunity-associated nucleotide 2 protein, IAN-2, hIAN2, Immunity-associated nucleotide 6 protein, IAN-6, hIAN6
Species	Homo sapiens (Human)
KEGG Pathway	hsa:474344
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

41-113 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

41-113 (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

1 structures for Q6P9H5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6P9H5-F1	Predicted				AlphaFoldDB

273 variants for Q6P9H5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001553802 RCV001254928 rs767832540 CA4564262	86	W>*	Primary Immune Deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA4564375 rs755150904	2	E>G		No	ClinGen ExAC gnomAD
rs1329356333 CA369812709	3	E>G		No	ClinGen TOPMed
CA369812673 TCGA novel rs542950952	4	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA 1000Genomes ExAC TOPMed gnomAD
CA4564373 rs542950952	4	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4564372 rs529185042	5	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA369812573 rs1585183756	6	Y>N		No	ClinGen Ensembl
CA4564370 rs763991729	7	E>K		No	ClinGen ExAC
rs762502139 CA4564369	8	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs774846551 CA369812449	10	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1268662540 CA369812437	10	P>L		No	ClinGen TOPMed
CA369812448 rs774846551	10	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774846551 CA4564368	10	P>T		No	ClinGen ExAC TOPMed gnomAD
rs117935084 CA4564367	12	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4564366 rs374387304	14	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA169038083 rs374387304	14	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4564364 rs771444247	15	P>R		No	ClinGen ExAC gnomAD
CA4564362 rs747335625	17	E>D		No	ClinGen ExAC TOPMed gnomAD
CA369812206 rs1457930189	17	E>G		No	ClinGen TOPMed
rs1357808543 CA369812122	20	Q>H		No	ClinGen TOPMed gnomAD
rs145493080 CA4564358	21	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4564360 rs145493080	21	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4564359 rs145493080	21	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA169038044 rs866496608	22	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA369812029 rs866496608	22	P>T		No	ClinGen gnomAD
CA4564356 rs749496316	25	E>D		No	ClinGen ExAC gnomAD
rs1462053656 CA369811915	26	L>M		No	ClinGen gnomAD
TCGA novel	27	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369811837 rs1257475235	28	G>V		No	ClinGen Ensembl
rs1462800367 CA369811812 COSM1699572	29	G>S	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1332408006 CA369808290	32	E>D		No	ClinGen gnomAD
CA4564303 rs149687917	32	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	33	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1274881225 CA369808253	34	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs531447261 CA169036651	35	Q>P		No	ClinGen 1000Genomes TOPMed gnomAD
rs531447261 CA169036630	35	Q>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA369808098 rs1277737851	38	P>Q		No	ClinGen gnomAD
rs867177978 CA169036619	39	R>K		No	ClinGen Ensembl
CA169036628 rs923245283	39	R>M		No	ClinGen TOPMed
rs759570307 CA4564301	40	R>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	43	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763603064 CA4564299	43	L>P		No	ClinGen ExAC gnomAD
CA4564297 rs140856543	44	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA4564296 rs140856543	44	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4564295 rs563027953	44	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4564298 rs140856543	44	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs755727555 CA4564293	46	M>L		No	ClinGen ExAC gnomAD
rs745352182 CA369807811	46	M>R		No	ClinGen ExAC TOPMed gnomAD
rs745352182 CA4564292	46	M>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	47	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA169036585 rs964736814	51	S>N		No	ClinGen TOPMed gnomAD
TCGA novel	51	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150982153 CA4564291	53	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs751110665 CA4564290	53	K>R		No	ClinGen ExAC gnomAD
rs751110665 CA4564289	53	K>T		No	ClinGen ExAC gnomAD
CA369807679 rs1214051465	54	S>G		No	ClinGen gnomAD
CA369807662 rs1464293948	55	A>T		No	ClinGen TOPMed gnomAD
CA369807608 rs1585182335	58	N>K		No	ClinGen Ensembl
rs1225437469 CA369807613	58	N>S		No	ClinGen gnomAD
TCGA novel	61	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369422272 CA4564285	62	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs369422272 CA4564286	62	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA369807474 rs1340838388	63	R>K		No	ClinGen TOPMed
TCGA novel	63	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4564284 rs532823075	63	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369807383 CA369807385 rs543061135	64	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1442069644 CA369807451	64	D>N		No	ClinGen gnomAD
CA369807396 rs1196057410	64	D>V		No	ClinGen TOPMed
VAR_049533 CA4564282 rs17173519 RCV000889000	65	V>I		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM206047 rs375893282 CA4564280	67	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA169036471 rs913688634	69	K>E		No	ClinGen Ensembl
CA169036462 rs868828789	69	K>R		No	ClinGen Ensembl
rs1396461434 CA369807229	70	L>F		No	ClinGen gnomAD
CA4564276 rs769844868	74	P>T		No	ClinGen ExAC gnomAD
rs372777404 CA369807011	75	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372777404 COSM1449189 CA4564274	75	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA369806985 rs1277865720	76	T>I		No	ClinGen TOPMed gnomAD
rs922532694 CA169036389	77	K>E		No	ClinGen TOPMed
CA4564272 rs144748380	78	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369806905 rs144748380	78	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758799907 CA4564270	80	Q>H		No	ClinGen ExAC gnomAD
rs753036235 CA4564269	81	R>K		No	ClinGen ExAC gnomAD
rs754231907 CA4564266 COSM1208180	82	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM167212 CA4564267 rs149376163	82	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	83	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM394045 rs766503943 CA4564265	84	R>*	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA369806670 rs376322381	84	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4564264 rs376322381	84	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1315608681 CA369806619	85	E>G		No	ClinGen TOPMed
TCGA novel	85	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369806559 rs1411178132	86	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA369806541 rs1173876260	87	A>S		No	ClinGen gnomAD
CA4564261 rs762901733	88	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	88	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1203627166 CA369806436	89	K>T		No	ClinGen TOPMed
CA4564260 rs775424203	91	L>F		No	ClinGen ExAC gnomAD
rs769649860 CA4564259	92	E>K		No	ClinGen ExAC gnomAD
CA369806283 rs1256691463	94	I>N		No	ClinGen gnomAD
CA369806286 rs1563336582	94	I>V		No	ClinGen Ensembl
CA369806201 rs1185764206	96	T>A		No	ClinGen gnomAD
rs544332792 CA169036272	99	I>V		No	ClinGen 1000Genomes
CA369806070 rs1282635877	100	L>Q		No	ClinGen gnomAD
CA369806073 rs1585182095	100	L>V		No	ClinGen Ensembl
CA4564256 rs746468152	101	S>C		No	ClinGen ExAC TOPMed gnomAD
rs746468152 CA169036258	101	S>F		No	ClinGen ExAC TOPMed gnomAD
CA4564255 rs746468152	101	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs777528459 CA4564254	102	P>S		No	ClinGen ExAC gnomAD
CA169036243 rs748577330	103	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs748577330 CA4564252	103	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs114540180 CA4564251 RCV000956543	103	Q>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA369805987 rs1413554849	104	V>G		No	ClinGen gnomAD
rs62000976 CA4564250	105	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	107	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780395938 CA4564248	107	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs191817741 CA169036223	108	V>A		No	ClinGen 1000Genomes
CA169036222 rs191817741	108	V>G		No	ClinGen 1000Genomes
rs756267501 CA369805872	108	V>L		No	ClinGen ExAC TOPMed gnomAD
rs756267501 CA4564247	108	V>M		No	ClinGen ExAC TOPMed gnomAD
CA169036215 rs369994995	110	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375860624 CA4564245	111	A>S		No	ClinGen ExAC TOPMed gnomAD
rs375860624 CA4564244	111	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4564243 rs751778115	112	I>V		No	ClinGen ExAC
rs1476113538 CA369805755	113	C>Y		No	ClinGen gnomAD
rs765141539 CA4564242	114	Q>E		No	ClinGen ExAC
CA4564241 rs759208114	115	A>G		No	ClinGen ExAC TOPMed gnomAD
CA4564239 rs201051041	117	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA169036170 rs377194794	118	L>*		No	ClinGen Ensembl
CA369805400 rs1205818749	119	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs760288329 CA369805375	120	A>S		No	ClinGen ExAC TOPMed gnomAD
rs760288329 CA4564238 COSM1173298	120	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4564237 rs772703164	121	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4564235 rs747812177	123	P>L		No	ClinGen ExAC TOPMed gnomAD
rs773953391 CA4564234	124	H>R		No	ClinGen ExAC gnomAD
TCGA novel	125	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369805179 rs1370590200	125	A>T		No	ClinGen gnomAD
CA4564231 rs138521615	126	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146934553 CA4564229	129	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4564226 rs757367483	130	T>I		No	ClinGen ExAC TOPMed gnomAD
CA4564225 rs751857426	131	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA169036067 rs902947593	132	L>R		No	ClinGen TOPMed
CA369804687 rs1458328840	134	R>Q		No	ClinGen TOPMed gnomAD
CA4564223 COSM452604 rs372474469	134	R>W	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs138029142 CA4564222 COSM4006655	136	T>M	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA169036063 rs867223043	137	D>N		No	ClinGen gnomAD
CA369804540 rs867223043	137	D>Y		No	ClinGen gnomAD
CA369804493 rs1314599232	138	E>*		No	ClinGen gnomAD
CA369804422 rs1369736162	139	D>G		No	ClinGen gnomAD
CA4564219 rs773075886	139	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773075886 CA169036054	139	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA369804389 rs1224741137	140	Q>L		No	ClinGen TOPMed
TCGA novel	142	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767036573 CA4564218	142	V>L		No	ClinGen ExAC gnomAD
CA4564217 rs201648540	145	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4564216 rs148187154 COSM97836	145	R>H	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA369804292 rs201648540	145	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA169036049 rs868564539	148	E>K		No	ClinGen Ensembl
CA369804153 rs1161324248	149	V>A		No	ClinGen gnomAD
rs143101732 CA4564214	149	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs775719953 CA4564213	150	F>C		No	ClinGen ExAC gnomAD
rs1002411269 CA169036022	151	G>*		No	ClinGen gnomAD
rs540666412 CA169036014	152	V>A		No	ClinGen gnomAD
CA4564212 rs770135610	153	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1455850298 CA369804070	153	G>R		No	ClinGen gnomAD
rs746395431 CA4564211	154	V>I		No	ClinGen ExAC TOPMed gnomAD
CA169035990 rs149049253	155	L>P		No	ClinGen ESP TOPMed
CA4564210 rs369430612	157	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4564209 rs369430612	157	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	157	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747067495 COSM746015 CA4564208	158	T>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4564207 rs778202220	161	V>L		No	ClinGen ExAC gnomAD
CA4564206 rs376869789	164	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA169035964 rs1044027422	164	R>W		No	ClinGen gnomAD
rs1408493110 CA369803600	167	D>E		No	ClinGen TOPMed gnomAD
CA169035926 rs202157054	167	D>V		No	ClinGen Ensembl
CA369803543 rs1380340207	169	A>D		No	ClinGen gnomAD
CA169035901 rs1010565765	169	A>T		No	ClinGen Ensembl
VAR_043037 CA4564203 rs11974345	170	G>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4564199 rs751062815	171	G>D		No	ClinGen ExAC gnomAD
rs13234724 CA169035889	171	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4564201 rs13234724 VAR_043038	171	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4564200 rs751062815	171	G>V		No	ClinGen ExAC gnomAD
CA4564196 rs775156654	173	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1219694439 CA369803461	174	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs146766461 CA4564195	175	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA369803444 rs1192873061	175	D>N		No	ClinGen TOPMed gnomAD
CA369803371 rs1195086045	178	R>*		No	ClinGen TOPMed gnomAD
rs149739807 CA4564193	178	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4564192 rs777330596	179	E>A		No	ClinGen ExAC gnomAD
CA4564189 rs372190402	181	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4564190 rs747155481	181	N>S		No	ClinGen ExAC TOPMed gnomAD
CA169035860 rs747155481	181	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1328034407 CA369803222	183	Q>*		No	ClinGen TOPMed gnomAD
CA4564187 rs368001704	184	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1331052804 CA369803135	186	A>G		No	ClinGen TOPMed
CA369803160 rs1278753333	186	A>T		No	ClinGen TOPMed gnomAD
rs1398770534 CA369803087	188	L>P		No	ClinGen TOPMed
rs1455098004 CA369803079	189	D>H		No	ClinGen TOPMed
CA4564186 rs779155701	190	V>M		No	ClinGen ExAC
rs750204813 CA4564184	193	A>E		No	ClinGen ExAC gnomAD
CA369802956 rs1316306864	193	A>S		No	ClinGen TOPMed
CA4564182 rs142353229 COSM1087244	194	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA4564183 rs151245597	194	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4564181 rs751438691	195	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4564180 rs200301890	195	R>H	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1563336122 CA369802903	196	H>P		No	ClinGen Ensembl
CA369802865 rs561097678	197	C>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4564178 rs752336307	198	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1161040671 CA369802847	198	G>V		No	ClinGen gnomAD
rs1172002739 CA369802828	199	F>S		No	ClinGen TOPMed gnomAD
rs929906785 CA169035732	201	N>I		No	ClinGen TOPMed
CA369802755 rs929906785	201	N>S		No	ClinGen TOPMed
CA4564175 rs777134307	202	R>G		No	ClinGen ExAC TOPMed gnomAD
rs771356757 CA4564174	202	R>M		No	ClinGen ExAC TOPMed gnomAD
rs868377767 CA169035727	203	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1249357988 CA369802703	203	A>V		No	ClinGen gnomAD
rs773720199 CA4564171	205	G>E		No	ClinGen ExAC gnomAD
rs761278781 CA4564172 CA369802653	205	G>R		No	ClinGen ExAC gnomAD
CA369802608 rs1258395343	206	E>G		No	ClinGen gnomAD
CA4564170 rs772076874	208	Q>E		No	ClinGen ExAC TOPMed
rs1421980203 CA369802487	210	A>D		No	ClinGen TOPMed
rs779061760 COSM74747 CA169035677	212	L>M	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4564167 rs187044874	213	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA169035658 rs369141999	214	E>G		No	ClinGen ESP TOPMed
rs749444239 CA4564166	216	M>V		No	ClinGen ExAC TOPMed gnomAD
CA4564165 rs780975809	219	V>A		No	ClinGen ExAC gnomAD
rs780975809 CA169035632	219	V>D		No	ClinGen ExAC gnomAD
CA4564164 rs565063438	220	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369802062 rs1332391310	220	E>K		No	ClinGen gnomAD
CA4564163 rs751478842	221	A>T		No	ClinGen ExAC gnomAD
rs777730847 CA4564162	222	I>V		No	ClinGen ExAC gnomAD
CA169035623 rs374046241	223	M>L		No	ClinGen Ensembl
CA4564161 rs757899869	226	N>S		No	ClinGen ExAC TOPMed gnomAD
COSM340279 rs765053253 CA4564159	227	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA369801596 rs1274948385	235	A>T		No	ClinGen gnomAD
CA4564156 rs766873733	237	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA369801527 rs11977216	237	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs11977216 CA4564155 RCV000956542 VAR_043039	237	Q>R		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA369801503 rs1278962602	238	Y>H		No	ClinGen gnomAD
TCGA novel	244	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774492534 CA4564151	244	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4564152 rs201383570	244	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1440605537 CA369801303	246	K>N		No	ClinGen gnomAD
rs1326106573 CA369801253	249	Q>*		No	ClinGen gnomAD
TCGA novel	251	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775647348 CA4564148	254	S>N		No	ClinGen ExAC gnomAD
rs770749946 CA4564147	255	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1296601024 CA369801112	256	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA369801110 rs1296601024	256	G>V		No	ClinGen TOPMed
CA369801085 rs149246001	258	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4564145 rs149246001	258	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4564143 rs138414613	262	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs534166194 CA169035527	263	P>L		No	ClinGen TOPMed gnomAD
TCGA novel	263	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754490037 CA4564141	264	G>A		No	ClinGen ExAC gnomAD
TCGA novel	266	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369800949 rs1203420903	266	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1356013862 CA369800919	267	S>C		No	ClinGen gnomAD
CA169035521 rs878898762	269	L>R		No	ClinGen Ensembl
rs878972106 CA169035519	270	E>D		No	ClinGen gnomAD
TCGA novel	271	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1352415209 CA369800838	271	G>V		No	ClinGen TOPMed
CA169035514 rs1039478935	272	L>Q		No	ClinGen Ensembl
CA169035507 rs942514783	273	S>F		No	ClinGen Ensembl
rs1233933062 CA369800825	273	S>P		No	ClinGen gnomAD
TCGA novel	273	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs865805939 CA169035498 COSM1548698	278	E>K	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA4564139 rs766098117	280	E>D		No	ClinGen ExAC gnomAD
rs1563335894 CA369800597	285	C>R		No	ClinGen Ensembl
CA369800594 rs1490398919	285	C>Y		No	ClinGen TOPMed
CA4564138 rs554236549	286	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA4564136 rs767706452	288	G>R		No	ClinGen ExAC gnomAD
rs764186399 CA4564133	291	D>E		No	ClinGen ExAC gnomAD
rs762985842 CA4564132	293	L>S		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q6P9H5

3 regional properties for Q6P9H5

Type	Name	Position	InterPro Accession
domain	Glycoside hydrolase, family 13, N-terminal	76 - 161	IPR004193
domain	Glycosyl hydrolase, family 13, catalytic domain	221 - 568	IPR006047
domain	Alpha-amylase/branching enzyme, C-terminal all beta	603 - 697	IPR006048

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytosol
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

1 GO annotations of molecular function

Name	Definition
GTP binding	Binding to GTP, guanosine triphosphate.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8WWP7	GIMAP1	GTPase IMAP family member 1	Homo sapiens (Human)	PR
P54120	IAN8	Immune-associated nucleotide-binding protein 8	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MEEEEYEQIP	QENPPEELSQ	DPVLELSGGL	REKEQKTPRR	LRLILMGKTG	SGKSATGNSI
70	80	90	100	110	120
LGRDVFESKL	STRPVTKTSQ	RRSREWAGKE	LEVIDTPNIL	SPQVSPEVAD	AICQAIVLSA
130	140	150	160	170	180
PGPHAVLLVT	QLGRFTDEDQ	QVVRRLQEVF	GVGVLGHTIL	VFTRKEDLAG	GSLEDYVRET
190	200	210	220	230	240
NNQALAWLDV	TLARRHCGFN	NRAQGEEQEA	QLRELMEKVE	AIMWENEGDY	YSNKAYQYTQ
250	260	270	280	290
QNFRLKELQE	RQVSQGQGSE	DVPGEESWLE	GLSQIQKESE	EAHRCLLGKA	DL