AiPD: Autoinhibited Protein Database

Q92643

Gene name	PIGK (GPI8)
Protein name	GPI-anchor transamidase
Names	GPI transamidase, GPI8 homolog, hGPI8, Phosphatidylinositol-glycan biosynthesis class K protein, PIG-K
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10026
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-51 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-51 (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

5 structures for Q92643

Entry ID	Method	Resolution	Chain	Position	Source
7W72	EM	310 A	K	1-395	PDB
7WLD	EM	253 A	K	2-395	PDB
8IMX	EM	285 A	K	2-395	PDB
8IMY	EM	322 A	K	2-395	PDB
AF-Q92643-F1	Predicted				AlphaFoldDB

320 variants for Q92643

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1656391998 RCV001095382	33	Q>*	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures [ClinVar]	Yes	ClinVar dbSNP
VAR_084273	33	Q>del	NEDHCAS [UniProt]	Yes	UniProt
rs1656295216 RCV001095379 VAR_084274	53	S>F	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures NEDHCAS [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
VAR_084275	86	L>P	NEDHCAS; unknown pathological significance [UniProt]	Yes	UniProt
rs772948495 VAR_084276 CA915988 RCV001095380	87	A>V	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures NEDHCAS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_084277 CA915987 rs771836178	88	D>N	NEDHCAS [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
RCV001095381 CA915936 VAR_084278 rs1164656857	160	Y>S	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures NEDHCAS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
COSM3790262 rs780683566 VAR_084279 CA340861601	184	A>V	Variant assessed as Somatic; 0.0 impact. urinary_tract NEDHCAS; unknown pathological significance [NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_084280	246	M>K	NEDHCAS; unknown pathological significance [UniProt]	Yes	UniProt
rs1654968072 VAR_084281 RCV001095378	275	C>R	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures NEDHCAS [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
rs747822297 CA916093	2	A>T		No	ClinGen ExAC gnomAD
rs778588297 CA916092	2	A>V		No	ClinGen ExAC gnomAD
rs1274526337 CA340866136	3	V>A		No	ClinGen TOPMed
rs753716594 CA916090	3	V>L		No	ClinGen ExAC gnomAD
rs766073727 CA916089	5	D>E		No	ClinGen ExAC gnomAD
rs1261363106 CA340866094	6	S>C		No	ClinGen TOPMed gnomAD
rs1261363106 CA340866095	6	S>G		No	ClinGen TOPMed gnomAD
CA340866096 rs1261363106	6	S>R		No	ClinGen TOPMed gnomAD
CA340866087 rs1557436568	6	S>T		No	ClinGen Ensembl
CA340866073 rs1354232113	7	L>F		No	ClinGen gnomAD
CA340866060 rs1226472325	8	S>G		No	ClinGen TOPMed gnomAD
CA340866062 rs1226472325	8	S>R		No	ClinGen TOPMed gnomAD
rs750317869 CA916086	8	S>T		No	ClinGen ExAC TOPMed gnomAD
CA340866041 rs1391573167	9	R>Q		No	ClinGen TOPMed gnomAD
rs1375676481 CA916084	9	R>W		No	ClinGen TOPMed
CA340866022 rs1226122288	10	A>V		No	ClinGen gnomAD
rs775603566 CA916081	11	A>V		No	ClinGen ExAC TOPMed gnomAD
CA916080 rs138493120	13	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA340865980 rs138493120	13	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771138715 CA916078	14	L>*		No	ClinGen ExAC gnomAD
rs771138715 CA916077	14	L>S		No	ClinGen ExAC gnomAD
rs771138715 CA340865974	14	L>W		No	ClinGen ExAC gnomAD
rs12723684 CA916075 VAR_051518	16	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	16	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771602251 CA916074	17	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1475149390 CA340865934	17	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs747697976 CA916073	18	L>S		No	ClinGen ExAC gnomAD
rs1160072666 CA340865894	19	L>P		No	ClinGen gnomAD
CA916072 rs554331393	20	L>S		No	ClinGen 1000Genomes ExAC gnomAD
CA340865870 rs768411624	21	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1290560297 CA340865869	21	S>F		No	ClinGen gnomAD
rs768411624 CA916071	21	S>P		No	ClinGen ExAC TOPMed gnomAD
rs377457719 CA25359966	25	V>M		No	ClinGen ESP TOPMed gnomAD
CA916069 rs779903171	26	A>V		No	ClinGen ExAC gnomAD
rs149699790 CA916067	27	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1274575713 CA340865828	28	S>G		No	ClinGen gnomAD
CA916066 rs781232088	29	H>P		No	ClinGen ExAC gnomAD
rs1434819820 CA340865819	29	H>Y		No	ClinGen TOPMed gnomAD
CA340865809 rs1409436446	30	I>T		No	ClinGen TOPMed gnomAD
rs1455039014 CA340865801	31	E>D		No	ClinGen gnomAD
CA340864673 rs1460540836	33	Q>R		No	ClinGen TOPMed gnomAD
CA340864669 rs1235371257	34	A>T		No	ClinGen gnomAD
CA25359088 rs774869705	35	E>G		No	ClinGen gnomAD
TCGA novel	35	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA916043 rs189968569	36	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
CA340864645 rs754121295	37	F>C		No	ClinGen ExAC TOPMed gnomAD
CA916042 rs754121295	37	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs1251336095 CA340864630	39	R>I		No	ClinGen TOPMed
rs866834228 CA25359087	41	G>V		No	ClinGen Ensembl
rs1432605344 CA340864611	42	H>P		No	ClinGen TOPMed
rs769273282 CA25359086	42	H>Y		No	ClinGen Ensembl
rs756397052 CA916021	50	V>M		No	ClinGen ExAC gnomAD
rs368624830 CA916020	51	C>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA340864390 rs1217840350	52	T>A		No	ClinGen gnomAD
CA916019 rs202176006	54	R>*		No	ClinGen ExAC TOPMed gnomAD
CA916018 rs146489857 COSM196628	54	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA916017 rs752134431	60	R>*		No	ClinGen ExAC TOPMed gnomAD
CA25358725 rs201652469	61	H>Q		No	ClinGen 1000Genomes
CA916016 rs764545532	63	A>V		No	ClinGen ExAC gnomAD
rs1299152465 CA340864312	64	N>D		No	ClinGen TOPMed
CA340864309 rs1487724680	64	N>S		No	ClinGen gnomAD
rs1278549191 CA340864298	66	L>F		No	ClinGen gnomAD
CA340864288 rs1260585311	67	S>F		No	ClinGen gnomAD
rs763492163 CA916015	69	Y>H		No	ClinGen ExAC gnomAD
CA916014 rs775194889	70	R>I		No	ClinGen ExAC gnomAD
rs764775611 CA916013	72	V>I		No	ClinGen ExAC TOPMed gnomAD
rs776378076 CA916011	74	R>K		No	ClinGen ExAC gnomAD
rs150809384 CA916009	76	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1194302567 CA340864230	77	I>V		No	ClinGen gnomAD
CA340864219 rs1433035131	78	P>L		No	ClinGen TOPMed gnomAD
rs906154227 CA25358723	79	D>E		No	ClinGen gnomAD
rs1193369283 CA340864218	79	D>N		No	ClinGen gnomAD
CA916007 rs771962727	80	S>G		No	ClinGen ExAC TOPMed gnomAD
CA340863406 rs1570238602	81	H>R		No	ClinGen Ensembl
CA915989 rs760363739	81	H>Y		No	ClinGen ExAC gnomAD
CA340863399 rs1200023105	82	I>S		No	ClinGen gnomAD
rs1557812615 CA340863395	83	V>I		No	ClinGen Ensembl
CA25354660 rs763029944 CA25354659	85	M>I		No	ClinGen Ensembl
rs1341393489 CA340863384	85	M>V		No	ClinGen TOPMed
rs761751159 CA915986	88	D>G		No	ClinGen ExAC gnomAD
TCGA novel	88	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1352852417 CA340863352	90	M>V		No	ClinGen TOPMed gnomAD
CA915985 rs373820468	91	A>G		No	ClinGen ESP ExAC gnomAD
CA915984 rs769893344	94	P>S		No	ClinGen ExAC gnomAD
TCGA novel	95	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340863297 rs1483411687	97	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs781305903 CA915982	98	K>T		No	ClinGen ExAC gnomAD
CA915981 rs771114122	99	P>A		No	ClinGen ExAC gnomAD
CA340863285 rs1304937603	99	P>L		No	ClinGen gnomAD
rs1171371969 CA340863282	100	A>S		No	ClinGen gnomAD
rs753292011 TCGA novel CA25354658	102	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs753292011 CA915977	102	V>M		No	ClinGen ExAC gnomAD
CA340863268 rs1479093512	103	F>V		No	ClinGen TOPMed
rs1570238504 CA340863257	104	S>N		No	ClinGen Ensembl
CA340863245 rs1364418332	105	H>Q		No	ClinGen gnomAD
CA340863231 rs1425164652	107	N>I		No	ClinGen gnomAD
TCGA novel	110	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1389890005 CA340863202	111	N>S		No	ClinGen TOPMed
rs779607756 CA915975	112	V>A		No	ClinGen ExAC gnomAD
TCGA novel	114	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340863174 rs1487870897	115	D>V		No	ClinGen gnomAD
CA340863167 rs1371927092	116	D>G		No	ClinGen TOPMed
CA340863139 rs1410032040	120	D>G		No	ClinGen TOPMed
rs1283636852 CA340863117	123	S>N		No	ClinGen TOPMed gnomAD
TCGA novel	126	V>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1433761698 CA340863083	126	V>I		No	ClinGen Ensembl
rs748518163 CA25354420	127	T>A		No	ClinGen Ensembl
rs1184475043 CA340863074	127	T>I		No	ClinGen TOPMed
rs1421002191 CA340863069	128	V>A		No	ClinGen TOPMed
COSM912231 CA915948 rs755599930	129	E>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1570236751 CA340863047	131	F>C		No	ClinGen Ensembl
rs147088906 COSM3386340 CA915945	133	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ESP TOPMed
CA915947 rs374050300	133	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs761432190 CA915943	134	V>A		No	ClinGen ExAC gnomAD
rs1196575856 CA340863032	134	V>L		No	ClinGen gnomAD
CA915942 rs751410138	137	G>V		No	ClinGen ExAC
CA915941 rs114260507	141	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA25354419 rs974404015	142	S>R		No	ClinGen TOPMed
CA340862934 rs1362711894	143	T>I		No	ClinGen TOPMed
CA340862928 rs1315654393	144	P>S		No	ClinGen gnomAD
rs775451686 CA915940	145	R>L		No	ClinGen ExAC gnomAD
rs775451686 COSM912230 CA915939	145	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1232781133 CA340862918	145	R>W		No	ClinGen TOPMed
CA340862881 rs1363018131	148	R>C		No	ClinGen TOPMed gnomAD
rs188063187 CA915938	148	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	158	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA25354415 COSM125358 rs537240935	161	M>I	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes gnomAD
rs773146819 CA340862707	161	M>K		No	ClinGen ExAC TOPMed gnomAD
rs773146819 CA915934	161	M>T		No	ClinGen ExAC TOPMed gnomAD
CA915935 rs760853288	161	M>V		No	ClinGen ExAC TOPMed gnomAD
CA915933 rs772481181	163	G>R		No	ClinGen ExAC gnomAD
CA25354140 rs968415152	164	H>L		No	ClinGen TOPMed
CA340861848 rs968415152	164	H>R		No	ClinGen TOPMed
rs1381581319 CA340861727	173	Q>K		No	ClinGen gnomAD
rs1482710646 CA340861628	180	N>S		No	ClinGen gnomAD
rs1486891123 CA340861621	181	I>T		No	ClinGen gnomAD
CA25354138 rs1025901755	181	I>V		No	ClinGen TOPMed gnomAD
CA915907 rs780683566	184	A>E		No	ClinGen ExAC TOPMed gnomAD
CA915908 rs201690868	184	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA340861587 rs1421887331	186	A>D		No	ClinGen TOPMed
rs746696897 CA915905	191	W>G		No	ClinGen ExAC TOPMed gnomAD
CA340861552 rs746696897	191	W>R		No	ClinGen ExAC TOPMed gnomAD
CA915904 rs151148520	195	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA25354137 rs899841113	195	R>H		No	ClinGen gnomAD
rs1325901837 CA340861495	197	N>K		No	ClinGen TOPMed
CA25353926 rs780273646	197	N>S		No	ClinGen Ensembl
CA25353925 rs990243397	200	L>Q		No	ClinGen gnomAD
CA340861477 rs990243397	200	L>R		No	ClinGen gnomAD
CA340861457 rs1193392666	203	I>T		No	ClinGen gnomAD
CA340861461 rs1422529261	203	I>V		No	ClinGen gnomAD
rs747692385 CA915881	204	D>H		No	ClinGen ExAC TOPMed gnomAD
rs373393953 CA915880	204	D>V		No	ClinGen ESP ExAC gnomAD
CA915879 rs777283187	205	T>N		No	ClinGen ExAC gnomAD
rs934692063 CA25353924	206	C>S		No	ClinGen Ensembl
rs1488456049 CA340861424	208	G>A		No	ClinGen gnomAD
CA915876 rs756095203	211	M>T		No	ClinGen ExAC gnomAD
CA915877 rs144038716	211	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs751743491 CA915875	212	Y>C		No	ClinGen ExAC
CA340861393 rs1216552863	213	E>G		No	ClinGen gnomAD
COSM83913 rs1308977095 CA340861387	214	R>*	pancreas large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs140360373 COSM168283 CA915874	214	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA340861383 COSM1344380 rs1197698653	215	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1386097641 CA340861375	216	Y>H		No	ClinGen gnomAD
TCGA novel	218	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752804076 CA915872	218	P>R		No	ClinGen ExAC
CA340861344 rs1441087719	220	I>M		No	ClinGen gnomAD
CA915871 rs765654580	220	I>V		No	ClinGen ExAC gnomAD
rs759936217 CA915870	221	M>T		No	ClinGen ExAC gnomAD
CA25353923 rs61755360	221	M>V		No	ClinGen Ensembl
CA915869 rs776959715	222	A>S		No	ClinGen ExAC gnomAD
CA915868 rs771486033	222	A>V		No	ClinGen ExAC gnomAD
rs369037070 CA915867	223	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA915866 rs772717476	224	A>P		No	ClinGen ExAC gnomAD
CA915864 rs747861600	225	S>R		No	ClinGen ExAC gnomAD
CA915863 rs778391770	225	S>T		No	ClinGen ExAC gnomAD
rs1469011345 CA340861306	227	Q>R		No	ClinGen gnomAD
rs768321598 CA915862	228	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	229	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	232	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142473240	234	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA915859 rs756182989	234	S>L		No	ClinGen ExAC TOPMed gnomAD
rs779978180 CA915860	234	S>P		No	ClinGen ExAC gnomAD
CA340861259 rs756182989	234	S>W		No	ClinGen ExAC TOPMed gnomAD
CA340861223 rs1181611130	238	D>N		No	ClinGen TOPMed
CA340861212 rs1352921192	239	P>R		No	ClinGen gnomAD
CA915834 rs748236163	241	I>N		No	ClinGen ExAC gnomAD
rs757186406 CA915835	241	I>V		No	ClinGen ExAC gnomAD
rs755424903 CA25353910	242	G>A		No	ClinGen gnomAD
CA915832 rs755197327	244	H>R		No	ClinGen ExAC gnomAD
rs779046289 CA915833	244	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs751082508 CA25353909 COSM1344379	246	M>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA915830 CA340861148 rs766756600	249	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs754005997 CA915831	249	Y>C		No	ClinGen ExAC gnomAD
rs756433701 CA915829	250	T>I		No	ClinGen ExAC gnomAD
rs750772450 CA915828	251	F>L		No	ClinGen ExAC gnomAD
rs1570233063 CA340861130	252	Y>F		No	ClinGen Ensembl
rs1471231620 CA340861101	256	F>C		No	ClinGen gnomAD
CA915825 rs200133111	259	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1477757783 CA340861074	260	I>F		No	ClinGen gnomAD
CA915824 rs763628008	264	S>R		No	ClinGen ExAC gnomAD
rs762707056 CA915823	267	N>S		No	ClinGen ExAC
CA340861015 rs1487905997	268	M>I		No	ClinGen TOPMed gnomAD
rs1321482128 CA340861018	268	M>K		No	ClinGen TOPMed
rs1188456248 CA340861020	268	M>V		No	ClinGen gnomAD
CA915821 rs769740813	269	N>K		No	ClinGen ExAC gnomAD
CA340860977 rs1262553039	272	F>L		No	ClinGen TOPMed
TCGA novel	273	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373074286 CA340860960	274	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs373074286 CA915807	274	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1433438644 CA340860947	276	P>S		No	ClinGen gnomAD
CA915805 rs200092834 COSM1344378	278	S>G	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs765029104 CA915804	278	S>R		No	ClinGen ExAC gnomAD
rs200092834 CA915806	278	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA340860929 rs1405089981	279	L>M		No	ClinGen TOPMed
CA915803 rs759223889	279	L>P		No	ClinGen ExAC TOPMed gnomAD
CA25353220 rs924306887	280	C>R		No	ClinGen Ensembl
rs1314282275 CA340860919	280	C>W		No	ClinGen TOPMed gnomAD
rs776294990 CA915802	281	V>M		No	ClinGen ExAC gnomAD
CA340860903 rs1570227672	283	T>I		No	ClinGen Ensembl
rs770702172 CA915801	283	T>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA915800 rs760555315	286	H>R		No	ClinGen ExAC TOPMed gnomAD
CA915799 rs773098452	287	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA915798 COSM1220537 rs565004204	287	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA25353218 rs1036709266	288	T>P		No	ClinGen TOPMed
CA340860872 rs1191190575	289	D>A		No	ClinGen TOPMed gnomAD
rs1191190575 CA340860871	289	D>G		No	ClinGen TOPMed gnomAD
CA915797 rs369954648	289	D>H		No	ClinGen ESP ExAC gnomAD
CA915796 rs367851700	290	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA340860856 rs1253084757	291	F>L		No	ClinGen TOPMed gnomAD
CA25353216 rs1017302043	291	F>L		No	ClinGen Ensembl
CA915795 rs769975199	292	Q>R		No	ClinGen ExAC gnomAD
rs781421012 CA915793	293	R>T		No	ClinGen ExAC
rs200864553 CA25353215	295	P>S		No	ClinGen Ensembl
rs1303395940 CA340860799	300	I>K		No	ClinGen TOPMed gnomAD
rs1303395940 CA340860798	300	I>T		No	ClinGen TOPMed gnomAD
CA915792 rs762515810	301	T>A		No	ClinGen ExAC TOPMed gnomAD
CA915791 rs752037766	302	D>H		No	ClinGen ExAC TOPMed gnomAD
CA340860775 rs1195451713	304	F>L		No	ClinGen TOPMed
rs752323474 CA915788	306	S>N		No	ClinGen ExAC gnomAD
CA915789 rs758950509	306	S>R		No	ClinGen ExAC TOPMed gnomAD
CA25353213 rs915990166	308	R>Q		No	ClinGen TOPMed gnomAD
CA915786 rs139868827	308	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA340860743 rs1171608071	309	K>T		No	ClinGen gnomAD
CA340860738 rs1455554639	310	V>M		No	ClinGen gnomAD
CA340860712 rs1395107568	313	T>I		No	ClinGen TOPMed gnomAD
rs1395107568 CA340860714	313	T>K		No	ClinGen TOPMed gnomAD
rs985865222 CA25353211	314	T>A		No	ClinGen gnomAD
CA340860699 rs1468252637	315	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA915785 rs753481448	316	T>I		No	ClinGen ExAC gnomAD
rs1207053105 CA340860692	317	I>V		No	ClinGen gnomAD
rs1319750062 CA340860671	320	Q>K		No	ClinGen TOPMed
CA915781 rs772058300	326	M>I		No	ClinGen ExAC gnomAD
CA915782 rs772971888	326	M>T		No	ClinGen ExAC gnomAD
rs1447218038 CA340860619	327	E>K		No	ClinGen TOPMed
rs1304226298 CA340860608	328	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1031910178 CA25353209	328	S>R		No	ClinGen TOPMed
CA915780 rs761731119	329	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1183616375 CA340862559	330	Y>C		No	ClinGen TOPMed
rs765622565 CA915650	331	K>N		No	ClinGen ExAC gnomAD
rs958235425 CA25349866	332	E>K		No	ClinGen TOPMed
CA915649 rs755376872	334	Q>R		No	ClinGen ExAC gnomAD
CA340862477 rs754181796	336	D>G		No	ClinGen ExAC TOPMed gnomAD
rs754181796 CA915648	336	D>V		No	ClinGen ExAC TOPMed gnomAD
CA915647 rs766854318	337	E>G		No	ClinGen ExAC TOPMed gnomAD
rs192818073 CA915646	339	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1032614649 CA25349865	340	M>I		No	ClinGen TOPMed gnomAD
CA340862428 rs1417598367	340	M>T		No	ClinGen gnomAD
TCGA novel	341	E>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs999164506 CA25349864	341	E>V		No	ClinGen TOPMed gnomAD
CA25349863 rs763167609	342	P>L		No	ClinGen TOPMed
CA915644 rs766998901	343	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs761583365 CA915643	344	K>T		No	ClinGen ExAC gnomAD
CA915641 rs768388575	347	E>A		No	ClinGen ExAC gnomAD
rs1229244412 CA340862349	347	E>K		No	ClinGen gnomAD
CA340862313 rs1280710717	350	P>S		No	ClinGen TOPMed
rs762887444 CA915640	351	V>I		No	ClinGen ExAC gnomAD
rs1229936326 CA340862293	352	A>G		No	ClinGen gnomAD
CA915639 rs775339339	354	I>M		No	ClinGen ExAC TOPMed gnomAD
CA340862250 rs769686064	356	H>D		No	ClinGen ExAC TOPMed gnomAD
CA915638 rs769686064	356	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs769572940 CA915621	359	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1466955439 CA340860543	361	L>R		No	ClinGen gnomAD
CA340860541 rs1170307790	362	K>E		No	ClinGen TOPMed gnomAD
CA25346722 rs866750336	363	D>Y		No	ClinGen Ensembl
CA340860522 rs1570173649	364	W>*		No	ClinGen Ensembl
rs1570173653 CA340860525	364	W>R		No	ClinGen Ensembl
CA25346721 rs921573097	367	P>S		No	ClinGen gnomAD
CA340860488 rs1392071582	369	G>V		No	ClinGen gnomAD
rs776670177 CA915619	370	F>I		No	ClinGen ExAC gnomAD
rs1261644266 CA340860478	371	I>V		No	ClinGen TOPMed
rs973076111 CA25346720	372	L>P		No	ClinGen Ensembl
CA915617 rs778961432	373	G>E		No	ClinGen ExAC gnomAD
CA915616 rs778961432	373	G>V		No	ClinGen ExAC gnomAD
rs1488649011 CA340860457	375	W>R		No	ClinGen gnomAD
CA340860446 rs1202296001	376	A>G		No	ClinGen gnomAD
CA915615 rs768873141	376	A>T		No	ClinGen ExAC gnomAD
CA915614 rs749456891	377	L>I		No	ClinGen ExAC gnomAD
rs1274696200 CA340860438	378	I>V		No	ClinGen gnomAD
rs1000011155 CA25346719	379	I>V		No	ClinGen TOPMed gnomAD
CA340860407 rs1254798152	382	F>S		No	ClinGen TOPMed
CA25346718 rs113367396	383	F>L		No	ClinGen Ensembl
TCGA novel	384	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750717933 CA915611	388	I>T		No	ClinGen ExAC gnomAD
rs1302865189 CA340860367	388	I>V		No	ClinGen gnomAD
CA340860361 rs1479164835	389	K>*		No	ClinGen gnomAD
CA340860344 rs1570173553	391	M>V		No	ClinGen Ensembl
rs1408504506 CA340860332	392	K>R		No	ClinGen gnomAD
rs781745240 CA915609	394	I>L		No	ClinGen ExAC gnomAD
rs1407243390 CA340860307	395	F>L		No	ClinGen TOPMed
rs902646417 CA25346717	396	F>Q		No	ClinGen TOPMed

No associated diseases with Q92643

11 regional properties for Q92643

Type	Name	Position	InterPro Accession
domain	C2 domain	683 - 805	IPR000008-1
domain	C2 domain	1554 - 1679	IPR000008-2
domain	Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain	407 - 510	IPR000341
domain	Phosphatidylinositol 3-/4-kinase, catalytic domain	1103 - 1394	IPR000403
domain	Phosphoinositide 3-kinase, accessory (PIK) domain	859 - 1045	IPR001263
domain	Phox homology	1420 - 1536	IPR001683
domain	C2 phosphatidylinositol 3-kinase-type domain	672 - 839	IPR002420
conserved_site	Phosphatidylinositol 3/4-kinase, conserved site	1135 - 1149	IPR018936-1
conserved_site	Phosphatidylinositol 3/4-kinase, conserved site	1233 - 1253	IPR018936-2
domain	PI3K-C2-alpha, catalytic domain	1041 - 1393	IPR037705
domain	Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha, PX domain	1424 - 1532	IPR042133

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
GPI-anchor transamidase complex	An enzyme complex which in humans and yeast consists of at least five proteins; for example, the complex contains GAA1, GPI8, PIG-S, PIG-U, and PIG-T in human, and Gaa1p, Gab1p, Gpi8p, Gpi16p, and Gpi17p in yeast. Catalyzes the posttranslational attachment of the carboxy-terminus of a precursor protein to a GPI-anchor.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

2 GO annotations of molecular function

Name	Definition
GPI-anchor transamidase activity	Catalysis of the formation of the linkage between a protein and a glycosylphosphatidylinositol anchor. The reaction probably occurs by subjecting a peptide bond to nucleophilic attack by the amino group of ethanolamine-GPI, transferring the protein from a signal peptide to the GPI anchor.
protein disulfide isomerase activity	Catalysis of the rearrangement of both intrachain and interchain disulfide bonds in proteins.

3 GO annotations of biological process

Name	Definition
attachment of GPI anchor to protein	A transamidation reaction that results in the cleavage of the polypeptide chain and the concomitant transfer of the GPI anchor to the newly formed carboxy-terminal amino acid of the anchored protein. The cleaved C-terminal contains the C-terminal GPI signal sequence of the newly synthesized polypeptide chain.
protein localization to cell surface	A process in which a protein is transported to, or maintained in, a location within the external part of the cell wall and/or plasma membrane.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3MHZ7	PIGK	GPI-anchor transamidase	Bos taurus (Bovine)	PR
Q9CXY9	Pigk	GPI-anchor transamidase	Mus musculus (Mouse)	PR
Q4KRV1	PIGK	GPI-anchor transamidase	Sus scrofa (Pig)	PR

10	20	30	40	50	60
MAVTDSLSRA	ATVLATVLLL	SFGSVAASHI	EDQAEQFFRS	GHTNNWAVLV	CTSRFWFNYR
70	80	90	100	110	120
HVANTLSVYR	SVKRLGIPDS	HIVLMLADDM	ACNPRNPKPA	TVFSHKNMEL	NVYGDDVEVD
130	140	150	160	170	180
YRSYEVTVEN	FLRVLTGRIP	PSTPRSKRLL	SDDRSNILIY	MTGHGGNGFL	KFQDSEEITN
190	200	210	220	230	240
IELADAFEQM	WQKRRYNELL	FIIDTCQGAS	MYERFYSPNI	MALASSQVGE	DSLSHQPDPA
250	260	270	280	290	300
IGVHLMDRYT	FYVLEFLEEI	NPASQTNMND	LFQVCPKSLC	VSTPGHRTDL	FQRDPKNVLI
310	320	330	340	350	360
TDFFGSVRKV	EITTETIKLQ	QDSEIMESSY	KEDQMDEKLM	EPLKYAEQLP	VAQIIHQKPK
370	380	390
LKDWHPPGGF	ILGLWALIIM	VFFKTYGIKH	MKFIF