AiPD: Autoinhibited Protein Database

Q10472

Gene name	GALNT1
Protein name	Polypeptide N-acetylgalactosaminyltransferase 1
Names	Polypeptide GalNAc transferase 1, GalNAc-T1, pp-GaNTase 1, Protein-UDP acetylgalactosaminyltransferase 1, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2589
EC number	2.4.1.41: Hexosyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

2-105 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

2-105 (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 Q10472

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q10472-F1	Predicted				AlphaFoldDB

312 variants for Q10472

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs766763738 CA8937990	4	F>L		No	ClinGen ExAC gnomAD
CA402287134 rs1464564617	4	F>S		No	ClinGen TOPMed gnomAD
CA402287137 rs778731854	5	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8937991 rs778731854	5	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	9	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	12	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1428595362 CA402287194	13	T>I		No	ClinGen gnomAD
rs1428595362 CA402287192	13	T>N		No	ClinGen gnomAD
rs1555647689 CA402287211	16	I>S		No	ClinGen Ensembl
rs141224997 CA8937995	20	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8937997 rs138822379	25	L>V		No	ClinGen ESP ExAC
rs770545931 CA8937998	27	Y>F		No	ClinGen ExAC gnomAD
rs1358054040 CA402287298	29	S>G		No	ClinGen TOPMed gnomAD
CA402287302 rs1386465656	29	S>I		No	ClinGen gnomAD
CA298643641 rs1007063660	30	E>A		No	ClinGen TOPMed
CA402287311 rs1384609242	30	E>D		No	ClinGen gnomAD
rs745689841 CA8938000	33	K>R		No	ClinGen ExAC gnomAD
rs999525441 CA298643642	34	C>R		No	ClinGen Ensembl
CA8938001 rs769729231	36	E>G		No	ClinGen ExAC gnomAD
CA402287358 rs1328935980	37	K>E		No	ClinGen gnomAD
CA8938002 rs775428732	38	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1225897793	38	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1012535388 CA298643644	39	E>K		No	ClinGen Ensembl
CA402287393 rs1325881273	42	L>I		No	ClinGen TOPMed
TCGA novel	44	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs898156871 CA298643645	45	G>*		No	ClinGen TOPMed gnomAD
rs993826075 CA298643646	45	G>V		No	ClinGen TOPMed gnomAD
CA8938005 rs199595808	46	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772144264 CA8938004	46	D>N		No	ClinGen ExAC TOPMed gnomAD
rs760876380 CA8938007	47	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1182627562 CA402287993	48	L>V		No	ClinGen gnomAD
rs1385293058 CA402288008	50	P>L		No	ClinGen gnomAD
rs771147576 CA8938028	51	V>A		No	ClinGen ExAC gnomAD
rs572266534 CA8938027	51	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572266534 CA8938026	51	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8938029 rs367800500	52	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8938030 rs72964406	54	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1300195566 CA402288038	55	H>L		No	ClinGen gnomAD
rs1377477734 CA402288049	56	E>D		No	ClinGen gnomAD
CA402288052 rs1452129148	57	G>C		No	ClinGen gnomAD
TCGA novel	60	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8938032 rs753167333	61	M>R		No	ClinGen ExAC TOPMed gnomAD
rs746621854 CA402288102	64	P>L		No	ClinGen TOPMed gnomAD
rs746621854 CA298644557	64	P>R		No	ClinGen TOPMed gnomAD
rs1252809222 CA402288119	66	V>A		No	ClinGen gnomAD
CA402288112 rs1205136450	66	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1482183016 CA402288123	67	I>F		No	ClinGen gnomAD
CA8938036 rs751072237	68	P>L		No	ClinGen ExAC gnomAD
CA8938035 rs751072237	68	P>R		No	ClinGen ExAC gnomAD
rs1243451516 CA402288151	70	E>K		No	ClinGen gnomAD
rs139185162 CA8938038	71	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA8938037 rs150799030	71	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA402288193 rs1245209846	75	M>T		No	ClinGen Ensembl
CA8938041 rs749132119	79	F>L		No	ClinGen ExAC
TCGA novel	81	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239143002 CA402288249	82	N>S		No	ClinGen TOPMed
CA402288285 rs1429588681	87	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	91	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754881258 CA8938042	92	I>N		No	ClinGen ExAC gnomAD
CA402288330 rs1469645315	93	A>T		No	ClinGen gnomAD
CA298644560 rs933351911	99	P>L		No	ClinGen Ensembl
CA8938045 rs770934329	102	R>K		No	ClinGen ExAC gnomAD
CA402288390 rs1568027118	102	R>W		No	ClinGen Ensembl
rs746061435 CA8938047	105	G>V		No	ClinGen ExAC
CA298645980 rs867040527	108	T>K		No	ClinGen Ensembl
CA8938069 rs770099332	110	V>L		No	ClinGen ExAC gnomAD
CA8938070 rs775875852	111	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	112	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749605460 CA8938071	116	P>R		No	ClinGen ExAC gnomAD
CA298645981 rs774063067	117	T>K		No	ClinGen Ensembl
rs1326785769 CA402283764	118	T>A		No	ClinGen TOPMed
rs1461013463 CA402283802	124	F>V		No	ClinGen TOPMed
rs1172456216 CA402283823	126	N>K		No	ClinGen TOPMed
rs769146513 CA8938073	126	N>S		No	ClinGen ExAC TOPMed gnomAD
rs762214145 CA8938075	131	T>A		No	ClinGen ExAC TOPMed gnomAD
CA298645982 rs1048020433	131	T>I		No	ClinGen TOPMed
CA8938076 rs768119495	134	R>*		No	ClinGen ExAC gnomAD
CA8938077 rs561709986	134	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402283894 rs1568030550	138	S>G		No	ClinGen Ensembl
rs753504984 CA8938080	141	N>S		No	ClinGen ExAC gnomAD
rs765970495 CA8938079	141	N>Y		No	ClinGen ExAC gnomAD
rs754705600 CA8938081 COSM185365	142	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA298645983 rs113616262	143	S>P		No	ClinGen Ensembl
rs764923250 CA8938082	144	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1417540136 CA402283943	146	H>D		No	ClinGen TOPMed gnomAD
rs777794360 CA8938085	147	M>I		No	ClinGen ExAC gnomAD
rs375594755 CA8938084	147	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	151	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402283987 rs1226694575	152	V>I		No	ClinGen TOPMed
CA402283997 rs1381154447	153	L>R		No	ClinGen gnomAD
rs1030435809 CA298645985	159	E>*		No	ClinGen Ensembl
CA8938086 rs750418950	160	R>K		No	ClinGen ExAC gnomAD
rs375568312 CA8938106	165	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	168	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8938107 rs754020126	168	E>K		No	ClinGen ExAC gnomAD
rs1411488967 CA402284121	169	S>T		No	ClinGen gnomAD
CA8938109 rs779228924	171	V>A		No	ClinGen ExAC gnomAD
CA8938110 rs748418527	175	K>E		No	ClinGen ExAC TOPMed gnomAD
rs772487798 CA8938111	177	P>Q		No	ClinGen ExAC gnomAD
CA402284261 rs1389318843	181	I>V		No	ClinGen gnomAD
CA402284276 rs778080822	182	R>L		No	ClinGen ExAC TOPMed gnomAD
rs778080822 CA8938112	182	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8938113 rs747497904	186	R>C		No	ClinGen ExAC gnomAD
rs771471816 CA8938114	186	R>H		No	ClinGen ExAC gnomAD
rs769293373 CA8938117	197	A>V		No	ClinGen ExAC gnomAD
rs1205844059 CA402284493	198	A>V		No	ClinGen gnomAD
rs775214348 TCGA novel CA8938118	199	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
TCGA novel	200	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1362204975 CA402284519	201	K>E		No	ClinGen Ensembl
CA8938120 rs779097791	201	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1170426593 CA402284537	202	G>D		No	ClinGen TOPMed
CA298646520 rs1056636354	202	G>S		No	ClinGen TOPMed
rs368652074 CA402284590	206	T>I		No	ClinGen ESP
CA298646521 rs368652074	206	T>S		No	ClinGen ESP
rs1464331042 CA402284616	208	L>P		No	ClinGen TOPMed
CA8938121 rs751467082	209	D>Y		No	ClinGen ExAC gnomAD
CA8938122 rs201338228	216	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8938124 rs753918792	217	G>R		No	ClinGen ExAC
TCGA novel	218	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598805099 CA402284760	219	L>R		No	ClinGen Ensembl
rs755114870 CA8938125	220	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8938126 rs765307784	222	L>V		No	ClinGen ExAC gnomAD
CA8938128 rs758603020	225	R>G		No	ClinGen ExAC gnomAD
CA402284814 rs747427766	228	H>D		No	ClinGen ExAC TOPMed gnomAD
rs1403639618 CA402284816	228	H>R		No	ClinGen gnomAD
CA8938130 rs747427766	228	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA298646522 rs757716755	229	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1324739644 CA402284827	230	R>G		No	ClinGen gnomAD
CA402284854 rs1346507106	232	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1407213480 CA402284856	232	T>K		No	ClinGen TOPMed gnomAD
rs1407213480 CA402284858	232	T>R		No	ClinGen TOPMed gnomAD
rs1300287293 CA402284893	238	I>V		No	ClinGen TOPMed
CA8938145 rs765343176	239	D>N		No	ClinGen ExAC gnomAD
CA402284906 rs1357434996	240	V>M		No	ClinGen gnomAD
rs1220123367 CA402284920	242	S>C		No	ClinGen gnomAD
CA402284919 rs1220123367	242	S>G		No	ClinGen gnomAD
rs1192109861 CA402284955	246	F>L		No	ClinGen gnomAD
CA402284973 rs1424968700	249	M>L		No	ClinGen gnomAD
rs752783575 CA8938146	254	M>T		No	ClinGen ExAC gnomAD
rs1490449464 CA402285026	256	Y>C		No	ClinGen TOPMed gnomAD
rs1490449464 CA402285027	256	Y>F		No	ClinGen TOPMed gnomAD
rs199977475 CA298646911	258	G>V		No	ClinGen 1000Genomes
CA402285041 rs1598806205	259	F>V		No	ClinGen Ensembl
rs1598806206 CA402285080	264	N>H		No	ClinGen Ensembl
CA298646912 rs1054039963	264	N>S		No	ClinGen TOPMed gnomAD
rs1054039963 CA402285083	264	N>T		No	ClinGen TOPMed gnomAD
rs758610887 CA8938147	266	R>H		No	ClinGen ExAC gnomAD
TCGA novel	267	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402285101 rs1418105232	267	W>R		No	ClinGen gnomAD
CA402285110 rs1598806210	268	Y>D		No	ClinGen Ensembl
CA8938148 rs764325416	269	P>R		No	ClinGen ExAC gnomAD
CA919963806 rs1598806213	270	V>D		No	ClinGen Ensembl
rs751884824 CA8938149	271	P>A		No	ClinGen ExAC TOPMed gnomAD
rs757625159 CA8938150	272	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	275	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781622310 CA8938151	275	M>V		No	ClinGen ExAC gnomAD
CA8938152 rs746375129	276	D>G		No	ClinGen ExAC gnomAD
rs1178955604 CA402285171	277	R>G		No	ClinGen TOPMed gnomAD
rs914531943 CA298646915	277	R>K		No	ClinGen TOPMed
CA8938153 rs756647432	279	K>T		No	ClinGen ExAC TOPMed gnomAD
rs779585715 CA8938154	282	R>Q		No	ClinGen ExAC gnomAD
CA8938155 rs748798401	283	T>A		No	ClinGen ExAC TOPMed gnomAD
CA402285443 rs1305715324	288	T>A		No	ClinGen gnomAD
rs1259767194 CA402285486	294	G>D		No	ClinGen gnomAD
CA8938170 rs767865044	297	S>*		No	ClinGen ExAC gnomAD
rs1202667951	297	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs756622861 CA8938172	298	I>V		No	ClinGen ExAC gnomAD
rs1304313674 CA402285518	299	D>E		No	ClinGen TOPMed
CA402285515 rs1471184782	299	D>G		No	ClinGen Ensembl
CA298647116 rs567254339	299	D>N		No	ClinGen gnomAD
CA402285519 rs1568033120	300	R>G		No	ClinGen Ensembl
CA402285571 rs1173192365	306	I>M		No	ClinGen gnomAD
CA8938173 rs780447412	306	I>T		No	ClinGen ExAC gnomAD
TCGA novel	308	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402285622 rs1170941065	314	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA402285642 rs1177479611	316	W>*		No	ClinGen gnomAD
CA402285639 rs1212120054	316	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402285665 rs920470976	320	N>H		No	ClinGen TOPMed
rs920470976 CA298647117	320	N>Y		No	ClinGen TOPMed
CA298647118 rs752038593	321	L>V		No	ClinGen Ensembl
CA8938178 rs771914557	324	S>Y		No	ClinGen ExAC
CA402285706 rs1428801233	326	R>K		No	ClinGen gnomAD
rs1369205172 CA402285788	329	Q>H		No	ClinGen gnomAD
TCGA novel	329	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1221748902 CA402285811	331	G>E		No	ClinGen gnomAD
rs754313464 CA8938197	332	G>R		No	ClinGen ExAC gnomAD
rs1353856605 CA402285835	333	T>N		No	ClinGen gnomAD
rs1265026869 CA402285888	337	V>I		No	ClinGen TOPMed
rs1272971208 CA402286026	347	R>Q		No	ClinGen TOPMed
rs1468759653 CA402286024	347	R>W		No	ClinGen gnomAD
CA298647299 rs752126521	351	P>L		No	ClinGen TOPMed
CA298647301 rs756025596	353	T>M		No	ClinGen TOPMed gnomAD
CA298647300 rs377522973	353	T>S		No	ClinGen gnomAD
rs758097611 CA8938201	357	G>V		No	ClinGen ExAC gnomAD
rs777326059 CA8938202	358	T>I		No	ClinGen ExAC gnomAD
CA8938204 rs770648350	360	Q>H		No	ClinGen ExAC gnomAD
CA402286201 rs1336892539	361	I>V		No	ClinGen TOPMed
rs745803826 CA8938206	368	R>*		No	ClinGen ExAC TOPMed gnomAD
rs921371695 CA298647304	372	V>A		No	ClinGen TOPMed
CA402286356 rs1171284997	372	V>M		No	ClinGen TOPMed
CA402286380 rs1376983118	374	M>I		No	ClinGen gnomAD
TCGA novel	374	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1178276678 CA402286391	376	E>*		No	ClinGen TOPMed
rs866242826 CA298647305	378	K>N		No	ClinGen Ensembl
rs144282744 CA298647306	379	N>H		No	ClinGen ESP gnomAD
CA8938208 rs774392647	379	N>S		No	ClinGen ExAC TOPMed gnomAD
CA402286424 rs1359267109	380	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs777562587 COSM1611206 CA298647307	382	Y>C	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
rs749317275 CA298647308	383	I>V		No	ClinGen TOPMed
rs146565032 CA298647310	384	I>V		No	ClinGen ESP TOPMed
CA402286456 rs1292406147	385	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402286494 rs1173873090	389	T>I		No	ClinGen gnomAD
rs1037853133 CA298647411	390	K>E		No	ClinGen gnomAD
rs759998430 CA8938237	395	D>A		No	ClinGen ExAC gnomAD
rs759998430 CA8938238	395	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776158114 CA8938239	396	I>T		No	ClinGen ExAC gnomAD
COSM1611207 CA402286537 rs1335638591	396	I>V	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA402286547 rs1430687191	397	S>L		No	ClinGen TOPMed gnomAD
rs763511120 CA8938241	400	V>A		No	ClinGen ExAC TOPMed gnomAD
rs142387342 CA298647412	401	G>D		No	ClinGen ESP TOPMed
rs142387342 CA298647413	401	G>V		No	ClinGen ESP TOPMed
rs1202187282 CA402286623	409	K>R		No	ClinGen gnomAD
rs1202187282 CA402286622	409	K>T		No	ClinGen gnomAD
CA402286631 rs1445171030	410	P>L		No	ClinGen gnomAD
CA8938245 rs750180079	410	P>S		No	ClinGen ExAC gnomAD
CA402286627 rs750180079	410	P>T		No	ClinGen ExAC gnomAD
rs755906540 CA8938246	412	S>F		No	ClinGen ExAC gnomAD
CA402286648 rs1263600061	413	W>*		No	ClinGen gnomAD
VAR_033946 rs34304568 CA298647414	414	Y>D		No	ClinGen UniProt Ensembl dbSNP
CA8938247 rs779908232	418	I>M		No	ClinGen ExAC
rs1598808149 CA402286689	419	Y>H		No	ClinGen Ensembl
CA8938248 rs749207892	420	P>L		No	ClinGen ExAC gnomAD
rs749207892 CA8938249	420	P>R		No	ClinGen ExAC gnomAD
CA402286698 rs1284869425	420	P>S		No	ClinGen TOPMed
rs913416555 CA298647416	423	Q>*		No	ClinGen TOPMed gnomAD
CA8938250 rs777681123	426	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8938251 rs747158950	426	R>H		No	ClinGen ExAC gnomAD
rs996376176 CA298647417	428	Y>C		No	ClinGen Ensembl
CA402286755 rs1284345940	429	F>V		No	ClinGen TOPMed
CA402287439 rs1598812728	434	I>T		No	ClinGen Ensembl
CA402287443 rs749687300	435	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749687300 CA402287442	435	R>G		No	ClinGen ExAC gnomAD
rs769004825 CA8938287	435	R>Q		No	ClinGen ExAC gnomAD
rs774927948 CA8938288	437	V>M		No	ClinGen ExAC gnomAD
rs1443269571 CA402287459	438	E>K		No	ClinGen gnomAD
rs368664035 CA8938289	439	T>M		No	ClinGen ExAC TOPMed gnomAD
rs771557387 CA8938290	440	N>H		No	ClinGen ExAC TOPMed gnomAD
CA402287484 rs1253941596	441	Q>R		No	ClinGen TOPMed
CA402287527 rs1166531397	447	A>S		No	ClinGen gnomAD
rs1399747847 CA402287533	448	R>K		No	ClinGen gnomAD
CA402287542 rs1487556097	449	K>R		No	ClinGen TOPMed
CA402287546 rs1333394500	450	E>K		No	ClinGen gnomAD
CA402287578 rs1234609418	454	V>I		No	ClinGen TOPMed
rs1450321228 CA402287604	457	F>L		No	ClinGen TOPMed gnomAD
rs766066560 CA8938293	461	G>S		No	ClinGen ExAC gnomAD
CA8938294 rs753525629	462	M>I		No	ClinGen ExAC
rs1322092034 CA402287645	463	G>E		No	ClinGen gnomAD
TCGA novel	467	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1256109086 CA402287700	469	S>C		No	ClinGen TOPMed gnomAD
CA402287701 rs1256109086	469	S>F		No	ClinGen TOPMed gnomAD
CA402287696 rs1208737210	469	S>T		No	ClinGen gnomAD
rs1484498272 CA402287707	470	Y>F		No	ClinGen gnomAD
CA8938321 rs542498158	476	I>L		No	ClinGen 1000Genomes ExAC gnomAD
COSM988169 rs1478393252 CA402287761	478	T>A	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA402287779 rs77648082	480	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8938324 rs775191976	483	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1159418914 CA402287831	488	L>F		No	ClinGen Ensembl
CA402287851 rs1360988624	491	P>S		No	ClinGen gnomAD
rs750493267 CA8938327	494	M>I		No	ClinGen ExAC gnomAD
CA402287868 rs764151758	494	M>L		No	ClinGen ExAC gnomAD
CA8938326 rs764151758	494	M>V		No	ClinGen ExAC gnomAD
rs969413269 CA298648557	495	L>P		No	ClinGen TOPMed
CA8938328 rs756266958	495	L>V		No	ClinGen ExAC TOPMed gnomAD
CA8938329 rs766455856	496	K>Q		No	ClinGen ExAC gnomAD
rs1183420751 CA402287903	499	H>Y		No	ClinGen TOPMed
CA402287912 rs1437892921	500	L>P		No	ClinGen TOPMed
TCGA novel	502	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8938334 rs758850679	509	D>N		No	ClinGen ExAC gnomAD
TCGA novel	510	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8938335 rs142110831	510	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	511	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761898143 CA8938345	512	K>T		No	ClinGen ExAC gnomAD
CA402288472 rs1384871399	518	V>M		No	ClinGen TOPMed
CA402288488 rs1479788047	520	S>G		No	ClinGen gnomAD
rs1178056201 CA402288494	521	N>H		No	ClinGen gnomAD
CA298649206 rs1043866699	522	Q>*		No	ClinGen TOPMed
CA8938349 rs765397647	525	D>H		No	ClinGen ExAC gnomAD
CA8938350 rs753015889	528	T>A		No	ClinGen ExAC gnomAD
rs758764811 CA8938351	530	E>K		No	ClinGen ExAC gnomAD
CA402288582 rs1404615329	533	Q>R		No	ClinGen gnomAD
rs374506211 CA8938352	536	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs747514160 CA8938353	536	S>T		No	ClinGen ExAC gnomAD
CA402288606 rs1294756073	537	I>V		No	ClinGen TOPMed
CA402288620 rs1330028079	539	D>H		No	ClinGen gnomAD
rs1052733833 CA298649208	541	N>H		No	ClinGen TOPMed
rs145884536 CA8938354	541	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8938356 rs745396196	544	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1711207 CA8938355 rs780735905	544	R>W	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs769448235 CA8938357	545	S>T		No	ClinGen ExAC gnomAD
TCGA novel	547	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	549	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8938358 rs779578114	549	L>V		No	ClinGen ExAC gnomAD
CA402288695 rs1598815852	550	L>F		No	ClinGen Ensembl
CA402288700 rs1598815854	551	R>*		No	ClinGen Ensembl
CA8938359 rs368892040	551	R>Q	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8938361 rs768559745 CA402288709	552	N>K		No	ClinGen ExAC TOPMed gnomAD
CA8938362 rs200444543	553	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402288725 rs1183890361	555	L>P		No	ClinGen gnomAD
rs1459200345 CA402288722	555	L>V		No	ClinGen gnomAD
rs776723493 CA8938364	556	P>R		No	ClinGen ExAC gnomAD
CA298649209 rs891889403	559	F>L		No	ClinGen Ensembl
TCGA novel	559	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q10472

3 regional properties for Q10472

Type	Name	Position	InterPro Accession
domain	Ricin B, lectin domain	426 - 551	IPR000772
domain	Glycosyltransferase 2-like	119 - 303	IPR001173
domain	N-acetylgalactosaminyltransferase	119 - 419	IPR045885

Functions

		Description
EC Number	2.4.1.41	Hexosyltransferases
Subcellular Localization	[Polypeptide N-acetylgalactosaminyltransferase 1]: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
endoplasmic reticulum-Golgi intermediate compartment membrane	The lipid bilayer surrounding any of the compartments of the endoplasmic reticulum (ER)-Golgi intermediate compartment system.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
Golgi cisterna membrane	The lipid bilayer surrounding any of the thin, flattened compartments that form the central portion of the Golgi complex.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.

3 GO annotations of molecular function

Name	Definition
carbohydrate binding	Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates.
manganese ion binding	Binding to a manganese ion (Mn).
polypeptide N-acetylgalactosaminyltransferase activity	Catalysis of the reaction: UDP-N-acetyl-D-galactosamine + polypeptide = UDP + N-acetyl-D-galactosaminyl-polypeptide. This reaction is the modification of serine or threonine residues in polypeptide chains by the transfer of a N-acetylgalactose from UDP-N-acetylgalactose to the hydroxyl group of the amino acid; it is the first step in O-glycan biosynthesis.

5 GO annotations of biological process

Name	Definition
O-glycan processing	The stepwise addition of carbohydrate or carbohydrate derivative residues to the initially added O-linked residue (usually GalNAc) to form a core O-glycan structure.
protein O-linked glycosylation	A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan.
protein O-linked glycosylation via serine	The glycosylation of protein via the O3 atom of peptidyl-serine, forming O3-glycosyl-L-serine; the most common forms are N-acetylgalactosaminyl, mannosyl, galactosyl, and xylosyl serine.
protein O-linked glycosylation via threonine	The glycosylation of protein via the O3 atom of peptidyl-threonine, forming O3-glycosyl-L-threonine; the most common forms are N-acetylgalactosaminyl, mannosyl, and galactosyl threonine.
viral protein processing	Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a viral protein.

26 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q07537	GALNT1	Polypeptide N-acetylgalactosaminyltransferase 1	Bos taurus (Bovine)	PR
Q6WV16	Pgant6	N-acetylgalactosaminyltransferase 6	Drosophila melanogaster (Fruit fly)	PR
Q6WV17	Pgant5	Polypeptide N-acetylgalactosaminyltransferase 5	Drosophila melanogaster (Fruit fly)	PR
Q9Y117	Pgant3	Polypeptide N-acetylgalactosaminyltransferase 3	Drosophila melanogaster (Fruit fly)	PR
Q14435	GALNT3	Polypeptide N-acetylgalactosaminyltransferase 3	Homo sapiens (Human)	PR
Q49A17	GALNTL6	Polypeptide N-acetylgalactosaminyltransferase-like 6	Homo sapiens (Human)	PR
Q7Z7M9	GALNT5	Polypeptide N-acetylgalactosaminyltransferase 5	Homo sapiens (Human)	PR
Q86SR1	GALNT10	Polypeptide N-acetylgalactosaminyltransferase 10	Homo sapiens (Human)	PR
Q8IUC8	GALNT13	Polypeptide N-acetylgalactosaminyltransferase 13	Homo sapiens (Human)	PR
Q8IXK2	GALNT12	Polypeptide N-acetylgalactosaminyltransferase 12	Homo sapiens (Human)	PR
Q9NY28	GALNT8	Probable polypeptide N-acetylgalactosaminyltransferase 8	Homo sapiens (Human)	PR
Q86SF2	GALNT7	N-acetylgalactosaminyltransferase 7	Homo sapiens (Human)	PR
Q10471	GALNT2	Polypeptide N-acetylgalactosaminyltransferase 2	Homo sapiens (Human)	PR
Q96FL9	GALNT14	Polypeptide N-acetylgalactosaminyltransferase 14	Homo sapiens (Human)	PR
P70419	Galnt3	Polypeptide N-acetylgalactosaminyltransferase 3	Mus musculus (Mouse)	PR
Q921L8	Galnt11	Polypeptide N-acetylgalactosaminyltransferase 11	Mus musculus (Mouse)	PR
Q8BGT9	Galnt12	Polypeptide N-acetylgalactosaminyltransferase 12	Mus musculus (Mouse)	PR
Q8CF93	Galnt13	Polypeptide N-acetylgalactosaminyltransferase 13	Mus musculus (Mouse)	PR
O08912	Galnt1	Polypeptide N-acetylgalactosaminyltransferase 1	Mus musculus (Mouse)	PR
Q29121	GALNT1	Polypeptide N-acetylgalactosaminyltransferase 1	Sus scrofa (Pig)	PR
Q925R7	Galnt10	Polypeptide N-acetylgalactosaminyltransferase 10	Rattus norvegicus (Rat)	PR
O88422	Galnt5	Polypeptide N-acetylgalactosaminyltransferase 5	Rattus norvegicus (Rat)	PR
Q6UE39	Galnt13	Polypeptide N-acetylgalactosaminyltransferase 13	Rattus norvegicus (Rat)	PR
Q10473	Galnt1	Polypeptide N-acetylgalactosaminyltransferase 1	Rattus norvegicus (Rat)	PR
Q7K755	gly-11	Putative polypeptide N-acetylgalactosaminyltransferase 11	Caenorhabditis elegans	PR
P34678	gly-3	Polypeptide N-acetylgalactosaminyltransferase 3	Caenorhabditis elegans	PR

10	20	30	40	50	60
MRKFAYCKVV	LATSLIWVLL	DMFLLLYFSE	CNKCDEKKER	GLPAGDVLEP	VQKPHEGPGE
70	80	90	100	110	120
MGKPVVIPKE	DQEKMKEMFK	INQFNLMASE	MIALNRSLPD	VRLEGCKTKV	YPDNLPTTSV
130	140	150	160	170	180
VIVFHNEAWS	TLLRTVHSVI	NRSPRHMIEE	IVLVDDASER	DFLKRPLESY	VKKLKVPVHV
190	200	210	220	230	240
IRMEQRSGLI	RARLKGAAVS	KGQVITFLDA	HCECTVGWLE	PLLARIKHDR	RTVVCPIIDV
250	260	270	280	290	300
ISDDTFEYMA	GSDMTYGGFN	WKLNFRWYPV	PQREMDRRKG	DRTLPVRTPT	MAGGLFSIDR
310	320	330	340	350	360
DYFQEIGTYD	AGMDIWGGEN	LEISFRIWQC	GGTLEIVTCS	HVGHVFRKAT	PYTFPGGTGQ
370	380	390	400	410	420
IINKNNRRLA	EVWMDEFKNF	FYIISPGVTK	VDYGDISSRV	GLRHKLQCKP	FSWYLENIYP
430	440	450	460	470	480
DSQIPRHYFS	LGEIRNVETN	QCLDNMARKE	NEKVGIFNCH	GMGGNQVFSY	TANKEIRTDD
490	500	510	520	530	540
LCLDVSKLNG	PVTMLKCHHL	KGNQLWEYDP	VKLTLQHVNS	NQCLDKATEE	DSQVPSIRDC
550
NGSRSQQWLL	RNVTLPEIF