AiPD: Autoinhibited Protein Database

Q92551

Gene name	IP6K1 (IHPK1, KIAA0263)
Protein name	Inositol hexakisphosphate kinase 1
Names	InsP6 kinase 1, Inositol hexaphosphate kinase 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9807
EC number	2.7.4.21: Phosphotransferases with a phosphate group as acceptor
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

82-174 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

82-174 (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 Q92551

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q92551-F1	Predicted				AlphaFoldDB

272 variants for Q92551

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs758652211 CA352859820	5	Q>H		No	ClinGen ExAC gnomAD
CA2406007 rs773998985	5	Q>R		No	ClinGen ExAC gnomAD
CA352859795 rs1324326202	7	M>V		No	ClinGen gnomAD
rs762695026 CA2406005	8	E>G		No	ClinGen ExAC gnomAD
CA352859617 rs1164964533	11	Q>R		No	ClinGen gnomAD
rs966549850 CA74555915	12	Y>C		No	ClinGen Ensembl
rs139564570 CA2406003	12	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	13	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2406002 rs748043612	13	G>R		No	ClinGen ExAC gnomAD
rs748043612 CA74555914	13	G>S		No	ClinGen ExAC gnomAD
rs34785187 CA2406001	15	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs34785187 CA74555904	15	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2405999 rs747206201	17	S>C		No	ClinGen ExAC gnomAD
CA2405998 rs780286190	17	S>I		No	ClinGen ExAC TOPMed
rs780286190 CA352859372	17	S>N		No	ClinGen ExAC TOPMed
rs891799918 CA74555890	18	R>Q		No	ClinGen TOPMed gnomAD
rs370834861 CA2405997	18	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs779393912 CA352859337	19	A>P		No	ClinGen ExAC TOPMed gnomAD
rs779393912 CA352859336	19	A>S		No	ClinGen ExAC TOPMed gnomAD
rs779393912 CA2405995	19	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1420875963 CA352859323	21	D>H		No	ClinGen TOPMed
CA352859308 rs1224145518	21	D>V		No	ClinGen gnomAD
rs201282630 CA2405994	22	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1356505940 CA352859121	25	L>F		No	ClinGen gnomAD
CA2405991 rs754445993	30	I>F		No	ClinGen ExAC gnomAD
CA74555876 rs112398797	39	M>V		No	ClinGen Ensembl
CA2405989 rs766006261	40	M>I		No	ClinGen ExAC gnomAD
CA352858463 rs1223999372	40	M>R		No	ClinGen gnomAD
CA352858450 COSM1046270 rs1359739943	41	R>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA2405988 rs750257907	41	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750257907 CA2405987	41	R>L		No	ClinGen ExAC TOPMed gnomAD
rs776571630 CA2405984	43	D>N		No	ClinGen ExAC TOPMed gnomAD
rs775413636 CA2405981	48	C>*		No	ClinGen ExAC
rs772467381 CA2405980	50	P>T		No	ClinGen ExAC gnomAD
CA352857944 rs1575313257	52	I>V		No	ClinGen Ensembl
CA2405977 rs377655659	54	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1692784 CA2405978 rs779478732	54	R>W	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA352857788 rs1242121158	56	Q>E		No	ClinGen gnomAD
CA74555851 rs933805036	57	R>C		No	ClinGen TOPMed
CA74555848 COSM1046269 rs1000417584	57	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs754466933 CA2405974	63	P>L		No	ClinGen ExAC TOPMed gnomAD
rs751128846 CA2405973	65	E>K		No	ClinGen ExAC TOPMed gnomAD
rs758109469 CA2405972 TCGA novel	68	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
rs1044936923 CA74555840	68	E>K		No	ClinGen Ensembl
rs1361981112 CA352857131	71	P>S		No	ClinGen gnomAD
rs765027414 CA2405969	72	E>A		No	ClinGen ExAC
TCGA novel	73	Y>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352856937 rs1465527228	74	K>N		No	ClinGen gnomAD
CA352856967 rs1167892451	74	K>T		No	ClinGen TOPMed
rs756134635	75	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs374846164 CA2405945	76	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs374846164 CA2405946	76	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs138470148 CA2405944	77	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138470148 CA74550578	77	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352852913 rs1268755153	84	D>Y		No	ClinGen TOPMed
CA352852888 rs1316605871	85	S>R		No	ClinGen Ensembl
CA74550575 rs1007027892	94	Y>C		No	ClinGen TOPMed
CA352852496 rs1321857562	95	P>A		No	ClinGen gnomAD
rs774734807 CA2405943	97	V>A		No	ClinGen ExAC gnomAD
rs766755925 CA2405942	98	E>V		No	ClinGen ExAC gnomAD
CA352852351 rs1427552055	99	S>R		No	ClinGen TOPMed
rs1559704032 CA352852292	100	E>D		No	ClinGen Ensembl
CA352852279 rs1331814295	102	V>M		No	ClinGen gnomAD
rs570009917 CA2405941	108	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA2405937 rs777053572	110	R>L		No	ClinGen ExAC gnomAD
COSM190684 rs777053572 CA2405938	110	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2405939 rs770036929	110	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA352851912 rs1370315574	113	P>T		No	ClinGen gnomAD
rs745434505 CA2405935	114	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2405936 rs555060207	114	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2405934 rs111561063	115	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2405933 rs757004314	115	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1575307418 CA352851809	116	K>N		No	ClinGen Ensembl
CA352851788 rs1428454165	117	H>P		No	ClinGen gnomAD
CA2405932 rs148966674	117	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352851763 rs1267091671	118	S>F		No	ClinGen gnomAD
CA352851772 rs1575307406	118	S>P		No	ClinGen Ensembl
rs1488584398 CA352851752	119	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA352851737 rs1237260826	120	R>Q		No	ClinGen gnomAD
rs752712757 CA2405929	120	R>W		No	ClinGen ExAC TOPMed gnomAD
CA352851708 rs1352931588	121	S>R		No	ClinGen gnomAD
CA74550521 rs887856728	123	H>Y		No	ClinGen TOPMed
CA352851678 rs746238797	124	R>G		No	ClinGen ExAC TOPMed gnomAD
rs754942528 CA2405927	124	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2405928 COSM480241 rs746238797	124	R>W	lung kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs751727183 CA2405926	129	S>G		No	ClinGen ExAC TOPMed gnomAD
CA352851542 rs1387614591	132	K>R		No	ClinGen TOPMed gnomAD
CA352851482 rs1287224602	135	K>E		No	ClinGen gnomAD
rs1291524688 CA352851454	136	A>G		No	ClinGen TOPMed
rs1575307363 CA352851462	136	A>P		No	ClinGen Ensembl
CA2405924 rs201162462	137	S>N		No	ClinGen ExAC TOPMed gnomAD
rs201162462 CA2405923	137	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1453112970 CA352851370	140	L>P		No	ClinGen gnomAD
rs1161035014 CA352851385	140	L>V		No	ClinGen TOPMed gnomAD
CA352851328 rs1199998107	142	T>A		No	ClinGen gnomAD
rs1043765160 CA74550502	143	S>C		No	ClinGen Ensembl
rs375163591 CA2405902	147	Q>R		No	ClinGen ESP ExAC gnomAD
rs1432648932 CA352847868	149	A>V		No	ClinGen TOPMed
rs1194046615 CA352847794	151	S>I		No	ClinGen TOPMed
rs762066614 CA2405901	152	P>L		No	ClinGen ExAC gnomAD
CA2405899 rs764431758	155	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761187382 CA2405898	155	E>V		No	ClinGen ExAC gnomAD
rs1445858072 CA352847678	156	L>P		No	ClinGen gnomAD
CA2405897 rs775909129	157	H>P		No	ClinGen ExAC gnomAD
rs770505918 CA2405896	158	S>N		No	ClinGen ExAC
rs1464314788 CA352847581	160	S>A		No	ClinGen TOPMed
rs190777746 CA2405894	161	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2405893 rs199967442	162	V>F		No	ClinGen 1000Genomes ExAC gnomAD
CA2405892 rs747796950	165	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA352847360 rs1195221306	168	D>G		No	ClinGen gnomAD
rs1463370218 CA352847309	170	N>S		No	ClinGen TOPMed
CA2405888 rs779811808	173	L>F		No	ClinGen ExAC gnomAD
CA2405890 rs527468049	173	L>M		No	ClinGen 1000Genomes ExAC gnomAD
CA352847203 rs1444034516	174	S>G		No	ClinGen gnomAD
rs1575304122 CA352847181	174	S>R		No	ClinGen Ensembl
CA352847141 rs1575304121	175	S>F		No	ClinGen Ensembl
CA2405886 rs750512186	177	K>E		No	ClinGen ExAC gnomAD
rs779048411 CA2405885	177	K>R		No	ClinGen ExAC gnomAD
rs1553693221 CA2405883	178	I>T		No	ClinGen Ensembl
rs1575304077 CA352846972	180	H>P		No	ClinGen Ensembl
rs1355800531 CA352846978	180	H>Y		No	ClinGen gnomAD
CA352846926 rs1575304066	181	N>K		No	ClinGen Ensembl
rs1575304070 CA352846931	181	N>T		No	ClinGen Ensembl
CA352846889 rs1575304063	183	W>R		No	ClinGen Ensembl
CA352846803 rs1382298276	186	R>G		No	ClinGen TOPMed
rs1284825712 COSM1424025 CA352846791	186	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs764447707 CA2405880	194	R>H		No	ClinGen ExAC TOPMed gnomAD
rs764447707 CA2405881	194	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1331140159 CA352846549	196	R>C		No	ClinGen gnomAD
CA2405879 rs377461311	196	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs767960430 CA2405877	198	E>Q		No	ClinGen ExAC gnomAD
CA352846408 rs1163307929	200	K>R		No	ClinGen gnomAD
CA2405874 rs769333382	202	R>*		No	ClinGen ExAC gnomAD
CA2405873 rs761570843	202	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA352846229 rs1177775710	206	K>E		No	ClinGen gnomAD
rs1009022129 CA74546219	214	V>G		No	ClinGen TOPMed
rs1262630437 CA352843770	216	H>Q		No	ClinGen TOPMed gnomAD
CA74546217 rs151229839	217	F>L		No	ClinGen ESP gnomAD
CA352843421 rs1313209951	230	R>W		No	ClinGen gnomAD
rs758950455 CA2405838	236	A>P		No	ClinGen ExAC gnomAD
rs753436945 CA2405837 COSM1285557	236	A>V	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA352843267 rs1291701663	237	S>P		No	ClinGen TOPMed
rs370259789 CA74546194	243	R>Q		No	ClinGen ESP TOPMed gnomAD
rs1359568971 CA352843108	243	R>W		No	ClinGen gnomAD
rs375665750 CA2405833	246	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2405834 rs775142562	246	R>W		No	ClinGen ExAC gnomAD
TCGA novel	247	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs964116005 CA74546186	249	E>D		No	ClinGen Ensembl
CA352842950 rs1559700712	249	E>K		No	ClinGen Ensembl
rs1430321318 CA352842766	255	T>M		No	ClinGen gnomAD
CA352842745 rs1181853834	257	G>S		No	ClinGen gnomAD
rs749222004 CA2405829	258	V>I		No	ClinGen ExAC gnomAD
CA352842601 rs1559700690	263	M>V		No	ClinGen Ensembl
rs1575301164 CA352841321	266	Y>C		No	ClinGen Ensembl
rs1375957284 CA352841179	270	T>A		No	ClinGen gnomAD
CA352841140 rs1393405039	272	H>N		No	ClinGen gnomAD
CA352841092 rs1388781443	274	L>F		No	ClinGen gnomAD
rs1460834891 CA352840872	280	Y>C		No	ClinGen TOPMed gnomAD
CA2405808 rs769791058	282	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
TCGA novel	285	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352840595 rs1439589871	288	G>S		No	ClinGen gnomAD
CA2405804 rs150703602	290	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs768961620 CA2405803	290	R>H	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2405802 rs117326328	291	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2405801 rs117326328	291	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772499813 CA2405800	295	Q>R		No	ClinGen ExAC gnomAD
rs1352863152 CA352840185	299	N>S		No	ClinGen gnomAD
CA2405798 rs779513668	301	L>R		No	ClinGen ExAC gnomAD
CA74545998 rs868616498	305	R>H		No	ClinGen gnomAD
TCGA novel	308	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1575301057 CA352839825	308	F>V		No	ClinGen Ensembl
rs147499631 CA2405797	309	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs147499631 CA2405796	309	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs780565971 CA2405795	311	I>V		No	ClinGen ExAC gnomAD
rs1347511431 CA352839630	312	L>V		No	ClinGen gnomAD
CA352839595 rs1212146529	313	S>N		No	ClinGen TOPMed
rs754719657 CA352839520	316	R>P		No	ClinGen ExAC TOPMed gnomAD
rs754719657 CA2405794	316	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs367884894 COSM1210798 CA74545981	316	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
CA352839478 rs1361692384	317	G>D		No	ClinGen gnomAD
TCGA novel	320	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1559700441 CA352839312	320	A>V		No	ClinGen Ensembl
rs375322351 CA2405793	324	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA352839227 rs1160659107	324	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA74545958 rs1043366150	326	A>G		No	ClinGen gnomAD
CA2405791 rs762693083	326	A>S		No	ClinGen ExAC gnomAD
CA352839167 rs762693083	326	A>T		No	ClinGen ExAC gnomAD
rs1559700395 CA352839074	329	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
COSM1046264 rs1368797919 CA352839057	329	R>H	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1459311670 CA352838933	332	S>C		No	ClinGen TOPMed
rs1342697827 CA352838837	334	S>F		No	ClinGen gnomAD
rs201880189 CA2405786	342	K>E		No	ClinGen ExAC gnomAD
rs901802521 CA74545921	342	K>R		No	ClinGen Ensembl
rs1399412408 CA352838485	343	E>A		No	ClinGen gnomAD
rs760984344 CA2405785	344	C>S		No	ClinGen ExAC gnomAD
rs772587623 CA2405783	345	R>G		No	ClinGen ExAC gnomAD
rs746288742 CA352838371	345	R>L		No	ClinGen ExAC TOPMed gnomAD
rs746288742 CA2405782	345	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs772587623 COSM1046263 CA2405784	345	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA352838366 rs1401992612	346	A>T		No	ClinGen gnomAD
CA74545910 rs996705262	348	S>F		No	ClinGen TOPMed
rs1575300900 CA352838299	348	S>P		No	ClinGen Ensembl
CA2405781 rs774552273	349	C>S		No	ClinGen ExAC gnomAD
rs1575300883 CA352838218	351	D>A		No	ClinGen Ensembl
CA2405778 rs780764632	352	R>C		No	ClinGen ExAC TOPMed gnomAD
rs754376936 CA2405777	352	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA352838124 rs1195295756	353	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2405776 rs138375827	353	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA352838055 rs1440606377	355	E>K		No	ClinGen gnomAD
CA352838054 rs1440606377	355	E>Q		No	ClinGen gnomAD
CA2405775 rs779629463	356	M>I		No	ClinGen ExAC gnomAD
rs1010084738 CA74545898	356	M>L		No	ClinGen TOPMed gnomAD
rs199742101 CA2405774	357	R>C		No	ClinGen 1000Genomes ExAC
rs753239883 CA2405773	357	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1218232285 CA352837904	359	K>R		No	ClinGen gnomAD
rs1575300843 CA352837870	360	H>P		No	ClinGen Ensembl
CA352837874 rs1340228330	360	H>Y		No	ClinGen gnomAD
rs370710382 CA2405771	361	L>P		No	ClinGen ExAC TOPMed gnomAD
CA2405770 rs753653890	362	D>N		No	ClinGen ExAC TOPMed
rs891634563 CA74545853	363	M>L		No	ClinGen Ensembl
CA352837689 rs1340337801	364	V>M		No	ClinGen gnomAD
rs368381707 CA2405767	365	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352837629 rs1575300818	365	L>P		No	ClinGen Ensembl
rs368381707 CA2405768	365	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375347005 CA2405766	367	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2405765 rs759837187	368	V>E		No	ClinGen ExAC gnomAD
rs774840073 CA2405764	369	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1169096711 CA352837445	371	S>C		No	ClinGen TOPMed gnomAD
rs141063205 CA2405762	372	C>R		No	ClinGen ESP ExAC gnomAD
CA352837419 rs1183988094	373	G>S		No	ClinGen gnomAD
rs1462530619 CA352837391	374	P>S		No	ClinGen TOPMed gnomAD
rs768173594 CA2405760	375	S>T		No	ClinGen ExAC gnomAD
rs1575300779 CA352837344	376	T>P		No	ClinGen Ensembl
CA2405759 rs746567803	377	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1208095100 CA352837247	379	S>N		No	ClinGen gnomAD
rs779508864 CA2405758	381	T>A		No	ClinGen ExAC TOPMed gnomAD
rs895503901 CA74545797	383	P>L		No	ClinGen TOPMed
rs1164011136 CA352837133	384	E>K		No	ClinGen gnomAD
rs756964359 CA2405754	385	A>G		No	ClinGen ExAC TOPMed gnomAD
rs756964359 CA2405755	385	A>V		No	ClinGen ExAC TOPMed gnomAD
rs767911451 CA2405752	386	G>D		No	ClinGen ExAC TOPMed gnomAD
CA74545783 rs948020062	387	P>L		No	ClinGen TOPMed gnomAD
rs1330318555 CA352836972	389	S>A		No	ClinGen gnomAD
CA352836918 rs1403042854	390	Q>R		No	ClinGen gnomAD
CA352836868 rs1229519297	391	P>S		No	ClinGen TOPMed
CA74545769 rs200869596	392	K>M		No	ClinGen ExAC TOPMed gnomAD
rs200869596 CA2405751	392	K>R		No	ClinGen ExAC TOPMed gnomAD
CA352836766 rs1575300710	393	V>G		No	ClinGen Ensembl
rs1214385385 CA352836735	394	D>V		No	ClinGen TOPMed
CA352836622 rs1164205367	396	R>C		No	ClinGen gnomAD
CA352836616 rs1262516901	396	R>H		No	ClinGen gnomAD
CA2405749 rs767695152	406	K>E		No	ClinGen ExAC gnomAD
rs1176363057 CA352836212	406	K>R		No	ClinGen gnomAD
rs774367418 CA2405747	409	R>W		No	ClinGen ExAC TOPMed gnomAD
rs148175328 CA2405743	414	V>M		No	ClinGen 1000Genomes ExAC gnomAD
COSM3824182 rs1352085173 CA352836002	415	H>R	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	416	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374021494 CA2405739	423	V>M		No	ClinGen ExAC TOPMed gnomAD
CA352835629 rs1344362422	425	G>D		No	ClinGen gnomAD
rs1472224597 CA352835601	427	E>Q		No	ClinGen TOPMed
rs1359838288 CA352835538	430	I>V		No	ClinGen TOPMed
CA352835520 rs1467753699	431	S>G		No	ClinGen TOPMed
CA352835467 rs1559700178	433	M>L		No	ClinGen Ensembl
rs745567837 CA2405738	435	Q>H		No	ClinGen ExAC gnomAD
CA2405737 rs376501523	437	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2405736 rs187406150	437	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376501523 CA352835343	437	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs777709067 CA2405734	439	E>D		No	ClinGen ExAC gnomAD
rs1310255856 CA352835274	439	E>K		No	ClinGen TOPMed
CA2405733 rs756182894	441	Q>*		No	ClinGen ExAC gnomAD
rs984939040 CA74545697	441	Q>H		No	ClinGen Ensembl
CA2405732 rs752626004	441	Q>R		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q92551

No regional properties for Q92551

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q92551

Functions

		Description
EC Number	2.7.4.21	Phosphotransferases with a phosphate group as acceptor
Subcellular Localization	Cytoplasm Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
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.
fibrillar center	A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
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.

10 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
inositol 5-diphosphate pentakisphosphate 5-kinase activity	Catalysis of the reaction: ATP + inositol 5-diphosphate pentakisphosphate = ADP + inositol 5-triphosphate pentakisphosphate.
inositol diphosphate tetrakisphosphate kinase activity	Catalysis of the reaction: ATP + inositol diphosphate tetrakisphosphate = ADP + inositol bisdiphosphate trisphosphate.
inositol heptakisphosphate kinase activity	Catalysis of the reaction: ATP + diphospho-1D-myo-inositol-pentakisphosphate = ADP + bis(diphospho)-1D-myo-inositol-tetrakisphosphate. The isomeric configurations of the diphospho-1D-myo-inositol-pentakisphosphate (PP-IP5) and bis(diphospho)-1D-myo-inositol-tetrakisphosphate (bis-PP-IP4) are unknown.
inositol hexakisphosphate 1-kinase activity	Catalysis of the reaction: ATP + 1D-myo-inositol hexakisphosphate = ADP + 1-diphospho-1D-myo-inositol (2,3,4,5,6)pentakisphosphate.
inositol hexakisphosphate 3-kinase activity	Catalysis of the reaction: ATP + 1D-myo-inositol hexakisphosphate = ADP + 3-diphospho-1D-myo-inositol (1,2,4,5,6)pentakisphosphate.
inositol hexakisphosphate 5-kinase activity	Catalysis of the reaction: ATP + 1D-myo-inositol 1,2,3,4,5,6-hexakisphosphate = ADP + 5-diphospho-1D-myo-inositol (1,2,3,4,6)pentakisphosphate.
inositol hexakisphosphate kinase activity	Catalysis of the reaction: ATP + 1D-myo-inositol 1,2,3,4,5,6-hexakisphosphate = ADP + diphospho-1D-myo-inositol-pentakisphosphate. The isomeric configuration of diphospho-1D-myo-inositol-pentakisphosphate (PP-IP5) is unknown.
inositol-1,3,4,5,6-pentakisphosphate kinase activity	Catalysis of the reaction: ATP + 1D-myo-inositol 1,3,4,5,6-pentakisphosphate = ADP + diphospho-1D-myo-inositol tetrakisphosphate. The isomeric configuration of diphospho-1D-myo-inositol tetrakisphosphate is unknown.
kinase activity	Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.

5 GO annotations of biological process

Name	Definition
inositol phosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of an inositol phosphate, 1,2,3,4,5,6-cyclohexanehexol, with one or more phosphate groups attached.
inositol phosphate metabolic process	The chemical reactions and pathways involving inositol phosphate, 1,2,3,4,5,6-cyclohexanehexol, with one or more phosphate groups attached.
negative regulation of cold-induced thermogenesis	Any process that stops, prevents, or reduces the rate of cold-induced thermogenesis.
phosphatidylinositol phosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylinositol phosphate.
phosphorylation	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q96DU7	ITPKC	Inositol-trisphosphate 3-kinase C	Homo sapiens (Human)	PR
P27987	ITPKB	Inositol-trisphosphate 3-kinase B	Homo sapiens (Human)	PR
P23677	ITPKA	Inositol-trisphosphate 3-kinase A	Homo sapiens (Human)	PR
Q6PD10	Ip6k1	Inositol hexakisphosphate kinase 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MCVCQTMEVG	QYGKNASRAG	DRGVLLEPFI	HQVGGHSSMM	RYDDHTVCKP	LISREQRFYE
70	80	90	100	110	120
SLPPEMKEFT	PEYKGVVSVC	FEGDSDGYIN	LVAYPYVESE	TVEQDDTTER	EQPRRKHSRR
130	140	150	160	170	180
SLHRSGSGSD	HKEEKASLSL	ETSESSQEAK	SPKVELHSHS	EVPFQMLDGN	SGLSSEKISH
190	200	210	220	230	240
NPWSLRCHKQ	QLSRMRSESK	DRKLYKFLLL	ENVVHHFKYP	CVLDLKMGTR	QHGDDASAEK
250	260	270	280	290	300
AARQMRKCEQ	STSATLGVRV	CGMQVYQLDT	GHYLCRNKYY	GRGLSIEGFR	NALYQYLHNG
310	320	330	340	350	360
LDLRRDLFEP	ILSKLRGLKA	VLERQASYRF	YSSSLLVIYD	GKECRAESCL	DRRSEMRLKH
370	380	390	400	410	420
LDMVLPEVAS	SCGPSTSPSN	TSPEAGPSSQ	PKVDVRMIDF	AHSTFKGFRD	DPTVHDGPDR
430	440
GYVFGLENLI	SIMEQMRDEN	Q