AiPD: Autoinhibited Protein Database

Q9H1C3

Gene name	GLT8D2 (GALA4A, UNQ1901/PRO4347)
Protein name	Glycosyltransferase 8 domain-containing protein 2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:83468
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

5-75 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

5-75 (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 Q9H1C3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9H1C3-F1	Predicted				AlphaFoldDB

300 variants for Q9H1C3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA386338808 RCV000850424 rs1212627359	262	S>T	Marfanoid habitus and intellectual disability [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1323554101 CA386344584	3	L>V		No	ClinGen TOPMed
CA6754818 COSM169195 rs527597208	5	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs527597208 CA6754819	5	R>G		No	ClinGen ExAC TOPMed gnomAD
CA386344572 rs967761878	5	R>L		No	ClinGen gnomAD
CA242555470 rs967761878 COSM1208346	5	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA386344406 rs1332843050	8	N>S		No	ClinGen gnomAD
CA386344392 rs1227151921	10	V>L		No	ClinGen gnomAD
rs780874653 CA6754793	16	I>M		No	ClinGen ExAC TOPMed gnomAD
CA6754792 COSM244715 rs188727861	17	V>M	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA386344340 rs1435548296	19	L>F		No	ClinGen gnomAD
rs751178279 CA386344328	21	V>L		No	ClinGen ExAC TOPMed gnomAD
rs751178279 CA6754791	21	V>M		No	ClinGen ExAC TOPMed gnomAD
rs750926722 CA6754788	22	I>M		No	ClinGen ExAC gnomAD
rs143981260 CA6754790	22	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs143981260 CA6754789	22	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA386344315 rs1407311858	23	L>R		No	ClinGen gnomAD
CA6754786 rs117801489	24	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386344267 rs1193326140	30	G>E		No	ClinGen gnomAD
CA242554304 rs902057055	30	G>R		No	ClinGen TOPMed gnomAD
rs1428066130 CA386344263	31	T>A		No	ClinGen TOPMed
CA242554302 rs1037736879	31	T>I		No	ClinGen TOPMed
rs200791168 CA242554299	32	V>L		No	ClinGen 1000Genomes
rs1250341217 CA386344251	33	P>H		No	ClinGen TOPMed gnomAD
CA386344250 rs1250341217	33	P>R		No	ClinGen TOPMed gnomAD
TCGA novel	34	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148930753 CA386344225	36	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6754783 VAR_049247 rs17035120	37	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6754749 rs746847035	38	D>G		No	ClinGen ExAC gnomAD
rs775745688 CA6754782	38	D>N		No	ClinGen ExAC gnomAD
rs780013010 CA6754748	39	D>H		No	ClinGen ExAC gnomAD
CA386342873 rs1232446908	40	E>V		No	ClinGen gnomAD
rs150172280 CA6754747	41	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs954853592 CA242551519	42	E>G		No	ClinGen TOPMed
CA6754746 rs140897214	42	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6754743 rs778426823	45	E>K		No	ClinGen ExAC gnomAD
CA386342711 rs1287708031	49	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA386342680 rs1466098818	50	E>Q		No	ClinGen gnomAD
rs148025542 CA242551506	52	P>A		No	ClinGen gnomAD
rs958069387 CA242551500	52	P>R		No	ClinGen TOPMed
rs148025542 COSM107347 CA242551504	52	P>S	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1311519167 CA6754738	53	V>A		No	ClinGen TOPMed
CA6754740 rs754364373	53	V>L		No	ClinGen ExAC TOPMed gnomAD
rs778184917 CA6754737	54	V>A		No	ClinGen ExAC gnomAD
rs762933364 CA386342540	55	I>M		No	ClinGen gnomAD
CA386342492 rs1201035866	58	A>G		No	ClinGen gnomAD
CA6754736 rs756479742	58	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1032735043 CA242551485	60	G>E		No	ClinGen Ensembl
CA6754735 rs753013531	61	R>M		No	ClinGen ExAC gnomAD
rs374391507 CA386342434	62	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1288347821 CA386342422	62	M>T		No	ClinGen gnomAD
rs374391507 CA6754734	62	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759690951 CA6754733	64	A>D		No	ClinGen ExAC gnomAD
TCGA novel	64	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386342348 rs1593534069	66	M>R		No	ClinGen Ensembl
CA242551476 rs935390057	66	M>V		No	ClinGen TOPMed
rs905138340 CA242551473	67	A>P		No	ClinGen TOPMed gnomAD
CA386342307 rs1298717853	68	A>G		No	ClinGen gnomAD
CA386342285 rs1253888913	69	I>M		No	ClinGen TOPMed
CA386342289 rs1566193445	69	I>T		No	ClinGen Ensembl
CA6754731 rs751795224	70	N>I		No	ClinGen ExAC TOPMed gnomAD
rs766472373 CA6754730	71	S>N		No	ClinGen ExAC TOPMed gnomAD
CA386342248 rs776604768	72	I>N		No	ClinGen ExAC gnomAD
rs776604768 CA6754728	72	I>S		No	ClinGen ExAC gnomAD
CA6754729 rs763013818	72	I>V		No	ClinGen ExAC gnomAD
rs1425825785 CA386342235	73	Y>F		No	ClinGen TOPMed
CA6754727 rs768424523	74	S>N		No	ClinGen ExAC gnomAD
rs1433662965 CA386342182	76	T>A		No	ClinGen TOPMed gnomAD
CA6754725 rs181331226 COSM934214	78	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA242551457 rs949545528	81	L>F		No	ClinGen TOPMed gnomAD
COSM3416408 rs745502835 CA6754724	82	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA386342071 rs1372349244	83	Y>C		No	ClinGen gnomAD
rs1425533118 CA386342035	85	V>A		No	ClinGen gnomAD
CA242551452 rs201558040	87	L>V		No	ClinGen 1000Genomes
rs369320125 CA386342002	88	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6754721 rs369320125	88	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs773942062 CA6754722	88	R>W		No	ClinGen ExAC TOPMed gnomAD
rs577647221 CA6754720	90	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	90	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6754717 rs775355946	91	L>V		No	ClinGen ExAC gnomAD
CA6754716 rs781480264	92	T>A		No	ClinGen ExAC gnomAD
CA6754715 rs146514972	93	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA242551436 rs146514972	93	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6754714 COSM3810830 rs751805819	93	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM2064455 rs766554936 CA6754713	95	R>*	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs373034068 CA6754712	95	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6754689 rs765392869	97	W>*		No	ClinGen ExAC gnomAD
rs1214307747 CA386341287	97	W>R		No	ClinGen gnomAD
rs757478066 CA6754688	99	E>*		No	ClinGen ExAC gnomAD
rs199596361 CA6754687	101	S>A		No	ClinGen 1000Genomes ExAC gnomAD
CA242550371 rs199596361	101	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs767613379 CA6754686	104	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	109	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386341142 rs759540696	110	I>M		No	ClinGen ExAC TOPMed gnomAD
CA6754683 COSM1661999 rs367746635	111	V>M	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA242550364 rs751624313	114	N>I		No	ClinGen Ensembl
rs751624313 CA386341093	114	N>T		No	ClinGen Ensembl
rs375709472 CA6754681	115	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375709472 CA386341075	115	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs375709472 CA386341073	115	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA242550358 rs887451165	116	M>L		No	ClinGen Ensembl
rs1050116852 CA242550356	117	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs144122666 CA6754680	119	K>E		No	ClinGen ESP ExAC gnomAD
CA6754679 rs769294004	122	I>N		No	ClinGen ExAC gnomAD
CA386340974 rs1268510671	122	I>V		No	ClinGen TOPMed
rs761356747 CA386340962	123	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6754677 COSM1237211 rs776137786	123	R>K	parathyroid [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1593531084 CA386340950	123	R>S		No	ClinGen Ensembl
rs199929846 CA6754676	124	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6754675 rs139258873	126	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6754673 rs367887581 COSM934213	127	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs1298392470 CA386340881	129	P>H		No	ClinGen TOPMed
rs1593531034 CA386340840	132	L>P		No	ClinGen Ensembl
CA6754670 rs375188988	133	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1293910917	135	L>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs745761428 CA242549290	136	N>D		No	ClinGen TOPMed gnomAD
rs117446651 CA6754647	136	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756277684 CA6754646	139	R>*		No	ClinGen ExAC TOPMed gnomAD
CA6754645 rs751449956	139	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1461422174 CA386340016	141	Y>D		No	ClinGen TOPMed
CA6754644 rs780083954	142	L>R		No	ClinGen ExAC gnomAD
CA6754643 rs758110284	143	P>R		No	ClinGen ExAC TOPMed gnomAD
rs750175910 CA6754642 COSM3980715	144	L>V	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6754641 rs202210738	146	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199694370 CA6754640 CA6754639	147	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs142096211 CA386339960 CA6754638	149	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6754636 rs775838336	150	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA386339955 rs1294437463	150	E>V		No	ClinGen TOPMed
rs543467029 CA242549270	152	V>I		No	ClinGen 1000Genomes gnomAD
rs148617837 CA6754635	153	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1203557987 CA386339909	156	D>N		No	ClinGen TOPMed gnomAD
CA6754633 rs771436532	157	D>G		No	ClinGen ExAC TOPMed gnomAD
CA242549262 rs937732863	157	D>N		No	ClinGen TOPMed gnomAD
CA6754632 rs771436532	157	D>V		No	ClinGen ExAC TOPMed gnomAD
CA386339901 rs937732863	157	D>Y		No	ClinGen TOPMed gnomAD
CA386339893 rs1377190044	158	D>G		No	ClinGen Ensembl
rs1292773688 CA386339878	160	I>M		No	ClinGen gnomAD
CA6754631 rs769398330	160	I>V		No	ClinGen ExAC TOPMed gnomAD
rs769733742 CA242549250	162	Q>*		No	ClinGen ExAC gnomAD
rs769733742 CA6754629	162	Q>K		No	ClinGen ExAC gnomAD
rs1593529303 CA386339869	162	Q>R		No	ClinGen Ensembl
CA386339851 rs1434975931	163	G>D		No	ClinGen TOPMed gnomAD
CA386339848 rs1191521886	164	D>N		No	ClinGen gnomAD
rs1593528858 CA386339843	164	D>V		No	ClinGen Ensembl
CA242549070 rs893901658	165	I>F		No	ClinGen TOPMed
CA386339835 rs1337182989	165	I>M		No	ClinGen TOPMed
CA242549068 rs1032803475	166	Q>L		No	ClinGen TOPMed gnomAD
rs1162440218 CA386339802	170	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs149453281 CA6754608	171	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6754607 rs149453281	171	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1216100856 CA386339793	172	T>A		No	ClinGen TOPMed gnomAD
rs141060407 CA386339790	172	T>I		No	ClinGen ESP ExAC gnomAD
rs141060407 CA6754605	172	T>N		No	ClinGen ESP ExAC gnomAD
rs757022179 CA6754603	175	L>Q		No	ClinGen ExAC gnomAD
CA386339756 rs373952967	178	A>G		No	ClinGen ESP TOPMed gnomAD
rs777460443 CA6754601 COSM2150943	178	A>T	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM2064444 CA242549052 rs373952967	178	A>V	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
CA6754599 COSM1322044 rs143994495	179	A>V	ovary Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs199878047 CA242549046	185	C>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6754597 COSM200096 rs7133444	186	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6754596 rs7133444	186	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1373471116 CA386339676	190	A>V		No	ClinGen gnomAD
CA386339674 rs1437206094	191	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA386339672 rs1172416879	191	Q>R		No	ClinGen gnomAD
CA386339650 rs1593528738	194	N>H		No	ClinGen Ensembl
rs1259691809 CA386339635	196	L>F		No	ClinGen gnomAD
rs150432657 CA386339631 CA242549035	197	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs150432657 COSM1358314 CA6754593	197	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs941660822 CA242549033	198	G>*		No	ClinGen TOPMed
CA386339624 rs141452676	198	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs141452676 CA242549031	198	G>E		No	ClinGen ESP TOPMed gnomAD
CA6754592 rs765529546	200	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA242549030 rs762476373	200	Q>R		No	ClinGen Ensembl
CA6754581 rs780749938	201	N>Y		No	ClinGen ExAC gnomAD
rs754516562 CA6754580	202	T>I		No	ClinGen ExAC TOPMed gnomAD
CA386339586 rs1234484570	203	Y>H		No	ClinGen gnomAD
CA386339575 rs1249888736	204	M>T		No	ClinGen gnomAD
rs968198780 CA242548532	204	M>V		No	ClinGen TOPMed gnomAD
rs779746987 CA6754578	207	L>V		No	ClinGen ExAC gnomAD
rs1416454618 CA386339539	208	D>Y		No	ClinGen TOPMed
CA386339521 rs1446052188	209	Y>C		No	ClinGen TOPMed
CA6754575 rs765627577	210	R>Q		No	ClinGen ExAC gnomAD
rs148318774 CA6754576	210	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200518430 CA386339501	211	K>M		No	ClinGen ExAC TOPMed gnomAD
CA6754572 CA386339499 rs201963804	211	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs200518430 CA6754573	211	K>R		No	ClinGen ExAC TOPMed gnomAD
rs200518430 CA6754574	211	K>T		No	ClinGen ExAC TOPMed gnomAD
CA386339492 rs1282179064	212	K>T		No	ClinGen TOPMed
rs1381132971 CA386339482	213	A>T		No	ClinGen TOPMed
rs1396741154 CA386339467	214	I>N		No	ClinGen TOPMed gnomAD
CA6754568 rs772152450	217	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1184331800 CA386339419	218	G>C		No	ClinGen gnomAD
TCGA novel	222	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs897120534 CA242548528	222	S>R		No	ClinGen Ensembl
rs762935417 CA6754567	223	T>I		No	ClinGen ExAC gnomAD
CA242548526 rs1038314406	224	C>Y		No	ClinGen Ensembl
rs1238003642 CA386339336	225	S>F		No	ClinGen gnomAD
rs1470243575 CA386339313	227	N>S		No	ClinGen gnomAD
CA386339304 rs1270657379	228	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA386339302 rs1270657379	228	P>S		No	ClinGen TOPMed gnomAD
CA386339258 rs1208693504	232	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6754565 rs769603126	233	A>T		No	ClinGen ExAC gnomAD
rs574125536 CA6754564	234	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386339243 rs574125536	234	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746162227 CA6754562	235	M>K		No	ClinGen ExAC gnomAD
CA6754563 rs746162227	235	M>R		No	ClinGen ExAC gnomAD
rs1280918251 CA386339235	235	M>V		No	ClinGen gnomAD
rs369807655 CA6754561	236	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369807655 CA6754560	236	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386339216 rs1183816602	237	E>*		No	ClinGen TOPMed
rs757909969 CA6754559	238	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1442931483 CA386339175	240	H>D		No	ClinGen TOPMed gnomAD
rs779336155 CA6754558	241	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA6754555 COSM3739384 rs754111178	242	R>C	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs185030520 CA242548513	242	R>H		No	ClinGen 1000Genomes gnomAD
CA6754556 rs754111178	242	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1332176405 CA386339065	248	E>K		No	ClinGen TOPMed
rs889696050 CA242548511	250	W>C		No	ClinGen Ensembl
CA6754553 rs756270570	251	M>I		No	ClinGen ExAC gnomAD
rs375188513 CA6754554	251	M>T		No	ClinGen ExAC TOPMed gnomAD
rs752975001 CA6754552	252	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA386338989 rs1414929623	253	K>E		No	ClinGen gnomAD
rs767580537 CA6754551	255	V>M		No	ClinGen ExAC gnomAD
CA6754531 rs372103586	256	E>D		No	ClinGen ExAC TOPMed gnomAD
CA386338834 rs1190899207	258	N>I		No	ClinGen gnomAD
rs755239545 CA6754530	258	N>K		No	ClinGen ExAC gnomAD
rs1317703014 CA386338830	259	L>P		No	ClinGen TOPMed
rs984168219 CA242545315	259	L>V		No	ClinGen Ensembl
rs569424937 CA386338812	261	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA242545313 rs141216691	262	S>C		No	ClinGen ESP
CA386338807 rs1212627359	262	S>I		No	ClinGen gnomAD
CA242545307 rs566995214	263	S>Y		No	ClinGen Ensembl
rs368532678 CA6754528	267	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1593526555 CA386338772	268	V>G		No	ClinGen Ensembl
CA242545299 rs926245417	269	A>V		No	ClinGen TOPMed
CA386338765 rs1446647220	270	T>A		No	ClinGen Ensembl
CA6754527 rs761602980	271	S>F		No	ClinGen ExAC gnomAD
CA6754525 rs146519026	272	P>L		No	ClinGen ESP ExAC gnomAD
CA6754524 rs146519026	272	P>Q		No	ClinGen ESP ExAC gnomAD
CA6754526 rs776753795	272	P>S		No	ClinGen ExAC gnomAD
CA6754523 rs145520946	273	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6754522 rs145520946	273	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745567774 CA6754521	275	I>T		No	ClinGen ExAC gnomAD
CA386338725 rs1593526513	277	F>Y		No	ClinGen Ensembl
CA6754520 rs773686610	278	H>P		No	ClinGen ExAC gnomAD
TCGA novel	279	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1313677350 CA386338698	281	Y>H		No	ClinGen gnomAD
rs921300950 CA242545272	283	T>I		No	ClinGen gnomAD
CA6754518 rs374496391	286	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1410967099 CA386338650	288	W>*		No	ClinGen gnomAD
CA6754515 rs770128714	288	W>R		No	ClinGen ExAC gnomAD
TCGA novel	289	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764737275 CA6754514	289	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs781621412 CA386338617	291	R>K		No	ClinGen ExAC gnomAD
CA6754513 rs781621412	291	R>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6754512 rs751825925	292	H>D		No	ClinGen ExAC TOPMed gnomAD
CA386338602 rs1418014603	292	H>Q		No	ClinGen gnomAD
TCGA novel	292	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751825925 CA6754511	292	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA386338592 rs1409220105	293	L>P		No	ClinGen TOPMed
rs1224592779 CA386338063	294	G>D		No	ClinGen TOPMed gnomAD
TCGA novel	294	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1375921327 CA386338058	295	W>G		No	ClinGen gnomAD
CA386338041 rs1566187270	297	P>A		No	ClinGen Ensembl
CA386338020 rs1306465344	300	R>T		No	ClinGen TOPMed
rs767185474 CA6754485	302	S>L		No	ClinGen ExAC TOPMed gnomAD
CA386338001 rs1233294423	303	E>A		No	ClinGen gnomAD
CA6754483 rs751157772	303	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	307	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765998052 CA6754482	307	Q>K		No	ClinGen ExAC gnomAD
rs200062838 CA242544068	308	E>K		No	ClinGen Ensembl
CA242544065 rs889202474	309	A>V		No	ClinGen Ensembl
rs1159346634 CA386337939	312	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA242544058 rs997485235	313	H>D		No	ClinGen Ensembl
CA242544056 rs892442798	313	H>P		No	ClinGen Ensembl
rs997485235 CA6754480	313	H>Y		No	ClinGen Ensembl
rs1052368450 CA242544054	318	H>Q		No	ClinGen Ensembl
rs1255051729 CA386337891	319	K>Q		No	ClinGen TOPMed
CA6754479 rs762596787	320	P>R		No	ClinGen ExAC gnomAD
CA386337874 rs772666198	321	W>*		No	ClinGen ExAC gnomAD
rs772666198 CA6754478	321	W>C		No	ClinGen ExAC gnomAD
rs983356145 CA242544048	322	D>Y		No	ClinGen TOPMed gnomAD
rs769312571 CA6754477	325	S>R		No	ClinGen ExAC gnomAD
CA386337474 rs1454595910	325	S>T		No	ClinGen gnomAD
CA6754476 rs762281315	326	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1487534597 CA386337418	327	H>P		No	ClinGen gnomAD
CA386337378 rs1566187153	329	D>G		No	ClinGen Ensembl
rs765776236 CA242544039	329	D>N		No	ClinGen TOPMed gnomAD
rs202178249 CA6754473	331	W>*		No	ClinGen ExAC TOPMed gnomAD
rs747344462 CA6754472	331	W>C		No	ClinGen ExAC gnomAD
TCGA novel	331	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	333	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775724282 CA6754471	334	W>C		No	ClinGen ExAC gnomAD
rs1226557769 CA386337211	337	P>A		No	ClinGen Ensembl
rs976739693 CA242544025	338	D>G		No	ClinGen TOPMed
rs965852641 CA242544020	343	F>C		No	ClinGen TOPMed
rs746116688 CA6754469	344	K>R		No	ClinGen ExAC gnomAD
rs1385638522 CA386337115	345	L>F		No	ClinGen gnomAD
CA386337066 rs1288972016	348	H>R		No	ClinGen gnomAD
rs748030157 CA6754466	350	S>C		No	ClinGen ExAC gnomAD

No associated diseases with Q9H1C3

4 regional properties for Q9H1C3

Type	Name	Position	InterPro Accession
domain	Aminoacyl-tRNA synthetase, class II (G/ P/ S/T)	228 - 406	IPR002314
domain	Aminoacyl-tRNA synthetase, class II	171 - 416	IPR006195
domain	Serine-tRNA synthetase, type1, N-terminal	1 - 107	IPR015866
domain	Serine-tRNA ligase catalytic core domain	119 - 423	IPR033729

Functions

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

2 GO annotations of cellular component

Name	Definition
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

1 GO annotations of molecular function

Name	Definition
glycosyltransferase activity	Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor).

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9FH36	GAUT12	Probable galacturonosyltransferase 12	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FWY9	GATL5	Probable galacturonosyltransferase-like 5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LE59	GAUT1	Polygalacturonate 4-alpha-galacturonosyltransferase	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MALLRKINQV	LLFLLIVTLC	VILYKKVHKG	TVPKNDADDE	SETPEELEEE	IPVVICAAAG
70	80	90	100	110	120
RMGATMAAIN	SIYSNTDANI	LFYVVGLRNT	LTRIRKWIEH	SKLREINFKI	VEFNPMVLKG
130	140	150	160	170	180
KIRPDSSRPE	LLQPLNFVRF	YLPLLIHQHE	KVIYLDDDVI	VQGDIQELYD	TTLALGHAAA
190	200	210	220	230	240
FSDDCDLPSA	QDINRLVGLQ	NTYMGYLDYR	KKAIKDLGIS	PSTCSFNPGV	IVANMTEWKH
250	260	270	280	290	300
QRITKQLEKW	MQKNVEENLY	SSSLGGGVAT	SPMLIVFHGK	YSTINPLWHI	RHLGWNPDAR
310	320	330	340
YSEHFLQEAK	LLHWNGRHKP	WDFPSVHNDL	WESWFVPDPA	GIFKLNHHS