AiPD: Autoinhibited Protein Database

Q99999

Gene name	GAL3ST1
Protein name	Galactosylceramide sulfotransferase
Names	GalCer sulfotransferase, 3'-phosphoadenosine-5'-phosphosulfate:GalCer sulfotransferase, 3'-phosphoadenylylsulfate:galactosylceramide 3'-sulfotransferase, Cerebroside sulfotransferase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9514
EC number	2.8.2.11: Sulfotransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

11-101 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

11-101 (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 Q99999

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q99999-F1	Predicted				AlphaFoldDB

372 variants for Q99999

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs752706235 CA10183707	4	P>A		No	ClinGen ExAC gnomAD
CA10183706 rs199701190	4	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA411214932 rs752706235	4	P>S		No	ClinGen ExAC gnomAD
rs777033091 CA10183704	5	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs760984952 CA10183702 COSM1033304	6	K>N	endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA10183701 rs773993854	7	K>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	7	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10183699 rs375791748	8	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA10183700 rs768132159	8	P>S		No	ClinGen ExAC gnomAD
rs138460948 CA10183698	10	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1275448458 CA411214844	12	M>T		No	ClinGen gnomAD
rs769808879 CA10183697	13	A>P		No	ClinGen ExAC
CA411214740 rs1601933773	17	V>G		No	ClinGen Ensembl
CA411214755 rs1270947888	17	V>M		No	ClinGen gnomAD
rs150130261 CA10183695	18	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA10183692 rs778200200	20	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200784913 CA10183691	20	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs532615501 CA323225557	24	S>C		No	ClinGen TOPMed gnomAD
CA10183688 rs755039523	26	L>V		No	ClinGen ExAC gnomAD
CA411214476 CA411214474 rs2267161	29	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_013684 CA10183686 rs2267161	29	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10183685 rs369562134	30	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1173489292 CA411214456	30	Y>H		No	ClinGen gnomAD
CA10183684 rs773548824	32	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1479934499 CA411214417	32	Y>H		No	ClinGen TOPMed
CA10183683 rs763869576	33	A>T		No	ClinGen ExAC gnomAD
CA323225540 rs910114682	34	V>A		No	ClinGen Ensembl
CA10183681 rs55674628	34	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10183680 rs769209210	35	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10183678 rs776725191	36	P>L		No	ClinGen ExAC TOPMed gnomAD
CA411214329 rs1231988933	36	P>S		No	ClinGen gnomAD
CA411214239 rs1445708746	39	A>D		No	ClinGen gnomAD
rs200175330 CA10183675	40	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1299459103 CA411214218	40	G>S		No	ClinGen gnomAD
CA10183674 rs545072220	42	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs545072220 CA411214164	42	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA323225523 rs376326152	44	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10183671 rs376326152	44	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10183672 rs776387935	44	T>P		No	ClinGen ExAC gnomAD
rs776387935 CA10183673	44	T>S		No	ClinGen ExAC gnomAD
rs1162984420 CA411212498	45	T>I		No	ClinGen gnomAD
CA411212506 rs1162984420	45	T>N		No	ClinGen gnomAD
CA411212522 rs1601925859	45	T>P		No	ClinGen Ensembl
rs901782121 CA323225056	46	P>L		No	ClinGen TOPMed gnomAD
rs750916024 CA10183649	46	P>S		No	ClinGen ExAC gnomAD
CA10183648 rs757564882	47	E>K		No	ClinGen ExAC TOPMed gnomAD
rs757564882 CA10183647	47	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA10183646 rs751940707	48	A>T		No	ClinGen ExAC gnomAD
rs753448980 CA10183644	49	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753448980 CA10183643	49	A>T		No	ClinGen ExAC gnomAD
CA411212427 rs1467809050	49	A>V		No	ClinGen gnomAD
CA411212416 rs1215175567	50	A>E		No	ClinGen gnomAD
rs1271104815 CA411212426	50	A>T		No	ClinGen gnomAD
TCGA novel	51	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411212337 rs1256848658	54	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs947633590 CA323225041	55	P>L		No	ClinGen gnomAD
rs947633590 CA411212329	55	P>R		No	ClinGen gnomAD
CA411212288 rs1327714528	57	L>R		No	ClinGen gnomAD
rs761568497 CA10183638	58	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774187197 CA10183637	60	E>G		No	ClinGen ExAC gnomAD
CA323225036 rs937703619	60	E>Q		No	ClinGen Ensembl
CA323225032 rs982345587	61	A>V		No	ClinGen Ensembl
CA10183636 rs116808844	63	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs949276266 CA411212150	63	I>N		No	ClinGen gnomAD
CA323225028 rs949276266	63	I>T		No	ClinGen gnomAD
rs527978474 CA10183633	64	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs527978474 CA10183632	64	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs148732637 CA10183634	64	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs145255306 CA10183631	65	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145255306 CA411212118	65	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10183630 rs145255306	65	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10183628 rs4149493 CA10183627	66	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751910799 CA10183629	66	N>S		No	ClinGen ExAC TOPMed gnomAD
CA323225006 rs866052007	67	G>R		No	ClinGen gnomAD
CA411212074 rs866052007	67	G>S		No	ClinGen gnomAD
CA10183625 rs766065135	68	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel rs1601924848 CA411212017	69	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs761774463 CA10183621 CA411212002	70	G>R		No	ClinGen ExAC TOPMed gnomAD
rs146374804 CA10183618	71	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10183619 rs768461676	71	E>G		No	ClinGen ExAC gnomAD
rs774058933 CA10183620	71	E>K		No	ClinGen ExAC TOPMed gnomAD
rs775692302 CA10183617	72	C>G		No	ClinGen ExAC gnomAD
CA10183615 rs769944180	72	C>W		No	ClinGen ExAC gnomAD
CA10183614 rs746002546	73	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1328356268 CA411211944	74	P>A		No	ClinGen gnomAD
CA411211946 rs1328356268	74	P>T		No	ClinGen gnomAD
CA10183613 rs776743811	75	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA411211916 rs1398726436	76	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs114261329 CA10183612	76	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411211885 rs1601924313	79	V>G		No	ClinGen Ensembl
CA10183608 CA10183606 rs755783998	79	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA10183607 rs755783998	79	V>M		No	ClinGen ExAC gnomAD
TCGA novel	80	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1363025082 CA411211858	83	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1439262202 COSM311350 CA411211848	84	H>Q	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs200288264 CA10183604	86	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA323224938 rs903324570	86	T>R		No	ClinGen Ensembl
CA411211763 rs1279395509	94	I>M		No	ClinGen gnomAD
rs1337811414 CA411211755	95	L>P		No	ClinGen gnomAD
CA411211758 rs1237118669	95	L>V		No	ClinGen gnomAD
rs775262112 CA411211733	96	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1349866887 CA411211726	97	R>C		No	ClinGen Ensembl
CA10183598 rs765485596	97	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA411211680 rs1383968592	100	Q>*		No	ClinGen gnomAD
rs1156635748 CA411211623	103	R>G		No	ClinGen gnomAD
CA10183595 rs771078011	103	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs773872161 CA10183593	105	K>Q		No	ClinGen ExAC gnomAD
rs772696067 CA10183592	107	A>T		No	ClinGen ExAC gnomAD
CA323224887 rs112070427	110	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10183590 rs779387845	111	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1416934939 CA411211467	112	R>C		No	ClinGen TOPMed
rs745553560 CA10183588	116	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA10183587 rs780667989	117	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs1601923372 CA411211363	117	Y>S		No	ClinGen Ensembl
CA411211305 rs201414101	122	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411211304 rs201414101	122	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201414101 CA10183585	122	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763096645 CA10183584	122	A>V		No	ClinGen ExAC TOPMed gnomAD
CA411211301 rs1212750004	123	R>C		No	ClinGen TOPMed
rs758301790 CA10183583	124	S>R		No	ClinGen ExAC gnomAD
CA411211277 rs1385404982	127	Q>K		No	ClinGen TOPMed gnomAD
rs148211720 CA10183580	130	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs371773995 CA10183581	130	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA411211248 rs1568989336	131	P>S		No	ClinGen Ensembl
CA10183578 rs766458216	132	G>E		No	ClinGen ExAC TOPMed gnomAD
CA10183575 rs772743003	135	F>L		No	ClinGen ExAC gnomAD
rs1370381179 CA411211208	137	I>F		No	ClinGen TOPMed
CA411211172 rs1249100828	142	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA411211151 rs1333017467	144	F>L		No	ClinGen gnomAD
rs774947168 CA10183573	144	F>L		No	ClinGen ExAC gnomAD
rs1338858292 CA411211134	147	D>N		No	ClinGen TOPMed gnomAD
rs769094588 CA411211120	148	E>D		No	ClinGen ExAC TOPMed gnomAD
CA411211126 rs917406506	148	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs917406506 CA323224830	148	E>Q		No	ClinGen TOPMed gnomAD
CA411211115 rs1365643390	149	V>A		No	ClinGen gnomAD
rs1302143274 CA411211117	149	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA411211109 rs1438236258 COSM1033303	150	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs780909543 CA10183570	151	G>R		No	ClinGen ExAC TOPMed gnomAD
rs780909543 CA411211101	151	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770474761 CA10183569	154	P>L		No	ClinGen ExAC gnomAD
rs1568988818 CA411211063	154	P>S		No	ClinGen Ensembl
TCGA novel	154	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757856226 CA10183566	156	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1249003104 CA411211027	157	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1482576801 CA411211008	158	I>F		No	ClinGen TOPMed
CA411210977 rs1193454141	161	T>K		No	ClinGen gnomAD
rs200524491 CA10183565	162	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA411210945 rs1222591193	164	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10183563 rs754817752	164	R>P		No	ClinGen ExAC gnomAD
rs1601921902 CA411210929	165	D>A		No	ClinGen Ensembl
COSM139224 CA323224756 rs908336354	165	D>N	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA323224753 rs1046881520	166	P>A		No	ClinGen gnomAD
TCGA novel	167	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411210906 COSM3693909 rs1450153256	167	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1198228615 CA411210897	168	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs143092292 COSM1253024 CA10183560	168	R>H	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA411210895 rs143092292	168	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769714165 CA411210868	170	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs566515964 CA10183557	172	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs964098284 CA323224735	174	F>S		No	ClinGen Ensembl
rs951711720 CA323224731	175	H>N		No	ClinGen TOPMed gnomAD
CA10183554 rs375737894	175	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1398181791 CA411210777	177	F>C		No	ClinGen TOPMed
rs1173597398 CA411210769	177	F>L		No	ClinGen gnomAD
TCGA novel	179	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10183552 rs770667145	179	P>T		No	ClinGen ExAC gnomAD
rs777366443 CA10183550	180	V>L		No	ClinGen ExAC gnomAD
rs778979615 CA10183549	181	V>L		No	ClinGen ExAC TOPMed gnomAD
rs778979615 CA411210734	181	V>M		No	ClinGen ExAC TOPMed gnomAD
rs747602251 CA10183548	182	P>S		No	ClinGen ExAC gnomAD
rs1371040430 CA411210710	183	L>F		No	ClinGen TOPMed
CA323224692 rs867937843	185	W>*		No	ClinGen Ensembl
CA411210662 rs1601921109	186	K>N		No	ClinGen Ensembl
CA411210654 rs1442488632	187	L>F		No	ClinGen TOPMed
TCGA novel	187	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10183545 rs143557787	188	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs138102427 CA411210617	190	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs138102427 CA10183543	190	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1020427587 CA323224664	192	K>E		No	ClinGen Ensembl
CA411210568 rs1280949846	194	T>S		No	ClinGen gnomAD
CA10183542 rs532747423	195	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1433461125 CA411210491	199	D>E		No	ClinGen gnomAD
rs1209515030 CA411210487	200	P>A		No	ClinGen TOPMed
rs1209515030 CA411210485	200	P>S		No	ClinGen TOPMed
rs751577476 CA10183539	201	D>A		No	ClinGen ExAC gnomAD
CA411210472 rs1177296705	201	D>H		No	ClinGen gnomAD
rs764727999 CA323224645 COSM261062	202	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs146995389 CA10183537	202	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA10183538 rs764727999	202	R>S		No	ClinGen ExAC gnomAD
CA411210445 rs1601920639	203	Y>F		No	ClinGen Ensembl
CA323224642 rs867940591	205	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA10183535 rs565594295	206	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10183534 rs368838217	207	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA411210409 rs377326984	208	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA10183532 rs377326984	208	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs747764890 CA10183531	211	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10183530 rs773707083	213	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA411210372 rs773707083	213	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1354255119 CA411210360	215	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA411210314 rs1318029716	222	L>M		No	ClinGen TOPMed
CA411210313 rs1318029716	222	L>V		No	ClinGen TOPMed
rs1361164288 CA411210307	223	G>C		No	ClinGen TOPMed
CA10183522 rs751699540	226	N>K		No	ClinGen ExAC gnomAD
rs1297411953 CA411210245	227	S>G		No	ClinGen TOPMed
CA10183521 rs764105271	227	S>N		No	ClinGen ExAC gnomAD
CA411210177 rs1458027588	230	P>R		No	ClinGen gnomAD
rs937490667 CA323224588	232	S>N		No	ClinGen TOPMed
CA411210125 rs1568987141	233	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	234	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs151043823 CA10183516	237	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10183514 rs372314038	238	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	239	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774002830 CA10183513	239	I>V		No	ClinGen ExAC gnomAD
rs1270702094 CA411209930	243	E>G		No	ClinGen gnomAD
CA10183510 rs114565111	244	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10183509 rs769839056	244	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1382219114 CA411209905	245	R>H		No	ClinGen TOPMed gnomAD
rs971734225 CA323224572	245	R>S		No	ClinGen TOPMed
rs146846116 CA10183506	252	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs146846116 CA411209799	252	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	255	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411209672 rs1426732002	256	D>H		No	ClinGen gnomAD
CA10183502 rs368393760	257	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA411209589 rs1250706346	259	L>M		No	ClinGen gnomAD
rs765802548 CA10183501	261	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1294054111 CA411209464	264	D>H		No	ClinGen gnomAD
CA411209410 rs1601918810	266	L>R		No	ClinGen Ensembl
CA411209317 rs1250340725	268	W>C		No	ClinGen gnomAD
rs766748481 CA10183498	270	L>P		No	ClinGen ExAC gnomAD
CA411209124 rs1317540954	274	L>V		No	ClinGen TOPMed
CA411209100 rs1229547168	275	Y>S		No	ClinGen gnomAD
CA411208995 rs1601918547	278	L>P		No	ClinGen Ensembl
CA411208970 rs1601918502	279	N>T		No	ClinGen Ensembl
CA411208949 rs1601918462	280	A>T		No	ClinGen Ensembl
CA323224527 rs866412766	280	A>V		No	ClinGen Ensembl
rs1391538706 CA411208906	281	R>H		No	ClinGen gnomAD
CA10183492 rs769892145	282	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10183493 rs769892145	282	R>G		No	ClinGen ExAC TOPMed gnomAD
CA411208893 rs1355009593	282	R>H		No	ClinGen gnomAD
CA411208885 rs903076173	283	D>A		No	ClinGen TOPMed gnomAD
rs903076173 CA323224495	283	D>G		No	ClinGen TOPMed gnomAD
rs560164540 CA411208887	283	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10183491 rs560164540	283	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560164540 CA411208886	283	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs770637899 CA10183489	284	S>L		No	ClinGen ExAC TOPMed gnomAD
rs776670722 CA10183490	284	S>T		No	ClinGen ExAC gnomAD
rs1249184864 CA411208826	285	P>R		No	ClinGen gnomAD
rs1483769724 CA411208813	286	V>L		No	ClinGen gnomAD
CA411208821 rs1483769724 COSM1253025	286	V>M	oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA411208767 rs1206517480	287	P>L		No	ClinGen gnomAD
rs1277310904 CA411208784	287	P>S		No	ClinGen gnomAD
rs1273509443 COSM252512 CA411208751	288	R>Q	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
rs967487587 CA323224493	288	R>W		No	ClinGen TOPMed
CA10183487 rs777916848	290	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA411208692 rs1313239657	291	G>V		No	ClinGen TOPMed
rs1601917709 CA411208671	292	E>G		No	ClinGen Ensembl
TCGA novel	292	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778946828 CA10183484	293	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1434101233 CA411208589	295	G>R		No	ClinGen gnomAD
CA411208572 rs1373365239	296	R>C		No	ClinGen gnomAD
CA10183482 rs754370102	297	A>S		No	ClinGen ExAC gnomAD
rs780470566 CA10183481	298	T>N		No	ClinGen ExAC TOPMed gnomAD
CA10183480 rs144400477	299	A>T	Variant assessed as Somatic; 0.0002224 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1393209918 CA411208441	300	W>C		No	ClinGen TOPMed
TCGA novel	302	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763718697 CA10183478	302	M>V		No	ClinGen ExAC gnomAD
rs1485654403 CA411208318	304	D>E		No	ClinGen gnomAD
CA10183477 rs762634521	306	H>P		No	ClinGen ExAC gnomAD
CA10183476 rs752303085	306	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA411208236 rs1346184861	308	Y>S		No	ClinGen gnomAD
rs759050757 CA411208211	309	R>H		No	ClinGen ExAC gnomAD
rs759050757 CA10183474	309	R>L		No	ClinGen ExAC gnomAD
CA10183475 rs764871537	309	R>S		No	ClinGen ExAC gnomAD
CA411208115 rs1347758474	311	F>L		No	ClinGen TOPMed
rs770890117 CA10183473	312	N>K		No	ClinGen ExAC gnomAD
CA411208061 rs1289114318	313	A>V		No	ClinGen gnomAD
TCGA novel	316	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411207953 rs1601917069	317	R>S		No	ClinGen Ensembl
rs760456900 CA10183471	319	V>M		No	ClinGen ExAC gnomAD
rs1235717496 CA411207810	321	A>G		No	ClinGen TOPMed
TCGA novel	321	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1156431874 CA411207786	323	G>R		No	ClinGen gnomAD
CA10183466 rs375449237	324	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10183467 rs375449237	324	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA411207720 rs1190224571	325	E>G		No	ClinGen gnomAD
CA411207741 rs1236186256	325	E>K		No	ClinGen gnomAD
rs1261555564 CA411207704	326	R>C		No	ClinGen gnomAD
rs1207026980 CA411207701	326	R>H		No	ClinGen TOPMed gnomAD
CA411207694 rs1207026980	326	R>L		No	ClinGen TOPMed gnomAD
rs1269038687 CA411207670	327	M>I		No	ClinGen gnomAD
rs780481801 CA10183464	327	M>T		No	ClinGen ExAC gnomAD
TCGA novel	328	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1232709405 CA411207622	329	R>C		No	ClinGen gnomAD
CA10183463 rs112976399	329	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1448739050 CA411207613	330	E>K		No	ClinGen gnomAD
CA411207527 rs1388848996	333	A>T		No	ClinGen gnomAD
rs764926485 CA10183458	333	A>V		No	ClinGen ExAC gnomAD
rs368192206 CA10183457	334	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10183456 rs139452633	335	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199518995 CA10183454	338	N>S		No	ClinGen 1000Genomes ExAC
rs930247196 CA323224327	339	E>G		No	ClinGen TOPMed
TCGA novel	339	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411207353 rs1372848132	340	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA411207358 rs1372848132	340	R>G		No	ClinGen TOPMed gnomAD
CA10183453 rs150519649	340	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA10183452 rs150519649	340	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10183451 rs761526230	341	M>T		No	ClinGen ExAC gnomAD
rs1025369933 CA323224321	341	M>V		No	ClinGen Ensembl
rs201686375 CA10183450	342	R>Q		No	ClinGen ESP ExAC gnomAD
CA411207310 rs1248807871	342	R>W		No	ClinGen TOPMed gnomAD
rs755622933 CA323224319	343	T>I		No	ClinGen TOPMed gnomAD
CA411207298 rs1449927640	343	T>P		No	ClinGen gnomAD
CA10183449 rs143517815	344	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411207221 rs1363653316	346	I>V		No	ClinGen TOPMed
COSM252511 CA411207203 rs1274224617	347	D>N	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed
CA411207191 rs1307695204	347	D>V		No	ClinGen TOPMed
rs1601915718 CA411207175	348	G>E		No	ClinGen Ensembl
rs781484854 CA10183444	349	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	350	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10183443 rs146972531	350	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA411207130 rs1323705408	352	V>M		No	ClinGen gnomAD
CA10183442 rs747366215	353	D>A		No	ClinGen ExAC TOPMed gnomAD
rs747366215 CA411207107	353	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1167269797 CA411207087	354	A>V		No	ClinGen gnomAD
rs985871403 CA323224302	355	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA411207069 rs1477184744	356	A>T	Variant assessed as Somatic; 5.545e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	359	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753341657 CA10183439	360	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	361	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411206968 rs1437344161	362	M>L		No	ClinGen TOPMed gnomAD
CA411206970 rs1437344161	362	M>V		No	ClinGen TOPMed gnomAD
CA323224286 rs891078467	363	Q>H		No	ClinGen Ensembl
CA411206920 rs1328088835	365	W>*		No	ClinGen TOPMed
CA411206879 rs1387080781	368	L>R		No	ClinGen TOPMed
rs1289218966 CA411206869 COSM1415730	370	T>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA411206868 rs1289218966	370	T>S		No	ClinGen TOPMed gnomAD
CA323224271 rs953077072	375	G>A		No	ClinGen TOPMed
CA10183437 rs755543715	378	L>I		No	ClinGen ExAC gnomAD
CA411206813 rs1342587027	379	K>E		No	ClinGen gnomAD
rs1217095671 CA411206796	381	S>C		No	ClinGen gnomAD
TCGA novel	384	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411206773 rs1601915002	384	Q>R		No	ClinGen Ensembl
CA10183435 rs767295908	385	R>P		No	ClinGen ExAC TOPMed gnomAD
CA411206767 rs767295908	385	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1051096052 CA323224262	385	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs913301339 CA323224251	386	H>Y		No	ClinGen Ensembl
rs1306705443 CA411206754	387	A>V		No	ClinGen gnomAD
CA10183432 rs764337612	388	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA411206750 rs369237221	388	Q>P		No	ClinGen TOPMed gnomAD
rs369237221 CA323224240	388	Q>R		No	ClinGen TOPMed gnomAD
CA411206744 rs1175854064	389	L>H		No	ClinGen gnomAD
CA10183429 rs769947861	391	R>Q		No	ClinGen ExAC gnomAD
rs775525763 CA10183430	391	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10183428 rs745878227	392	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA411206728 rs1249785183	392	R>H		No	ClinGen gnomAD
rs1483370753 CA411206717	393	M>I		No	ClinGen gnomAD
CA10183426 rs771561222	394	L>I		No	ClinGen ExAC TOPMed gnomAD
CA411206706 rs1313745037	395	T>M		No	ClinGen gnomAD
rs1326460044 CA411206698	397	E>K		No	ClinGen gnomAD
CA411206690 rs1476236443	398	I>V		No	ClinGen TOPMed
CA323224176 rs971663935	402	M>V		No	ClinGen Ensembl
CA10183424 rs778263669	403	D>N		No	ClinGen ExAC TOPMed gnomAD
CA411206639 rs1302804682	405	G>D		No	ClinGen gnomAD
rs758790086 CA10183423	407	N>S		No	ClinGen ExAC gnomAD
rs1475693270 CA411206612	409	W>*		No	ClinGen TOPMed
CA10183422 rs749005721	409	W>S		No	ClinGen ExAC gnomAD
CA10183420 rs755659182	417	I>L		No	ClinGen ExAC gnomAD
CA10183419 rs749883972	418	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs781170292 CA411206516	419	D>N		No	ClinGen ExAC TOPMed
rs781170292 CA10183418	419	D>Y		No	ClinGen ExAC TOPMed
CA10183416 rs751403921	422	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10183417 COSM1308067 rs757152961	422	R>W	Variant assessed as Somatic; 5.268e-05 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD

No associated diseases with Q99999

3 regional properties for Q99999

Type	Name	Position	InterPro Accession
domain	Ricin B, lectin domain	441 - 566	IPR000772
domain	Glycosyltransferase 2-like	139 - 311	IPR001173
domain	N-acetylgalactosaminyltransferase	139 - 434	IPR045885

Functions

		Description
EC Number	2.8.2.11	Sulfotransferases
Subcellular Localization	Golgi apparatus membrane ; Single-pass type II membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
integral component of plasma membrane	The component of the plasma 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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

3 GO annotations of molecular function

Name	Definition
galactose 3-O-sulfotransferase activity	Catalysis of the reaction: N-acetyllactosamine + 3'-phosphoadenosine 5'-phosphosulfate = 3-sulfo-N-acetyllactosamine + adenosine 3',5'-bisphosphate. N-acetyllactosamine residues are found in a number of different carbohydrate types. N-acetyllactosamine can also be written as Gal-beta-(1,4)-GlcNAc.
galactosylceramide sulfotransferase activity	Catalysis of the reaction: 3'-phosphoadenosine 5'-phosphosulfate + a galactosylceramide = adenosine 3',5'-bisphosphate + a galactosylceramidesulfate.
sulfotransferase activity	Catalysis of the transfer of a sulfate group from 3'-phosphoadenosine 5'-phosphosulfate to the hydroxyl group of an acceptor, producing the sulfated derivative and 3'-phosphoadenosine 5'-phosphate.

7 GO annotations of biological process

Name	Definition
galactosylceramide biosynthetic process	The chemical reactions and pathways resulting in the formation of galactosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of galactose by a ceramide group.
galactosylceramide metabolic process	The chemical reactions and pathways involving galactosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of galactose by a ceramide group.
glycerolipid metabolic process	The chemical reactions and pathways involving glycerolipids, any lipid with a glycerol backbone. Diacylglycerol and phosphatidate are key lipid intermediates of glycerolipid biosynthesis.
myelination	The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier.
protein N-linked glycosylation	A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.
sphingolipid metabolic process	The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid).

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A6QNK1	GAL3ST1	Galactosylceramide sulfotransferase	Bos taurus (Bovine)	PR
Q9H3Q3	GAL3ST2	Galactose-3-O-sulfotransferase 2	Homo sapiens (Human)	PR
Q9JHE4	Gal3st1	Galactosylceramide sulfotransferase	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MLPPQKKPWE	SMAKGLVLGA	LFTSFLLLVY	SYAVPPLHAG	LASTTPEAAA	SCSPPALEPE
70	80	90	100	110	120
AVIRANGSAG	ECQPRRNIVF	LKTHKTASST	LLNILFRFGQ	KHRLKFAFPN	GRNDFDYPTF
130	140	150	160	170	180
FARSLVQDYR	PGACFNIICN	HMRFHYDEVR	GLVPTNAIFI	TVLRDPARLF	ESSFHYFGPV
190	200	210	220	230	240
VPLTWKLSAG	DKLTEFLQDP	DRYYDPNGFN	AHYLRNLLFF	DLGYDNSLDP	SSPQVQEHIL
250	260	270	280	290	300
EVERRFHLVL	LQEYFDESLV	LLKDLLCWEL	EDVLYFKLNA	RRDSPVPRLS	GELYGRATAW
310	320	330	340	350	360
NMLDSHLYRH	FNASFWRKVE	AFGRERMARE	VAALRHANER	MRTICIDGGH	AVDAAAIQDE
370	380	390	400	410	420
AMQPWQPLGT	KSILGYNLKK	SIGQRHAQLC	RRMLTPEIQY	LMDLGANLWV	TKLWKFIRDF

LRW