AiPD: Autoinhibited Protein Database

Q86SR1

Gene name	GALNT10
Protein name	Polypeptide N-acetylgalactosaminyltransferase 10
Names	Polypeptide GalNAc transferase 10, GalNAc-T10, pp-GaNTase 10, Protein-UDP acetylgalactosaminyltransferase 10, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 10
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55568
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)

7-132 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

7-132 (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

3 structures for Q86SR1

Entry ID	Method	Resolution	Chain	Position	Source
2D7I	X-ray	250 A	A	40-603	PDB
2D7R	X-ray	280 A	A	40-603	PDB
AF-Q86SR1-F1	Predicted				AlphaFoldDB

468 variants for Q86SR1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1180666667 CA362003962	4	K>N		No	ClinGen TOPMed
CA362003966 rs1296682318	5	E>*		No	ClinGen TOPMed gnomAD
CA362003970 rs1264426885	5	E>D		No	ClinGen TOPMed
CA362003964 rs1296682318	5	E>K		No	ClinGen TOPMed gnomAD
rs1218339723 CA362003986	8	L>F		No	ClinGen TOPMed
CA362003996 rs1236055836	10	Q>*		No	ClinGen TOPMed gnomAD
CA362003998 rs1236055836	10	Q>K		No	ClinGen TOPMed gnomAD
CA362004004 rs1244919944	11	A>T		No	ClinGen TOPMed
CA362004032 rs1264454912	15	V>G		No	ClinGen gnomAD
rs1205250896 CA362004027	15	V>M		No	ClinGen TOPMed gnomAD
rs1320098287 CA362004034	16	L>V		No	ClinGen gnomAD
CA362004045 rs1192917283	18	A>T		No	ClinGen gnomAD
CA362004074 rs1172042784	23	P>S		No	ClinGen gnomAD
CA362004079 rs1394748135	24	N>D		No	ClinGen gnomAD
CA362004085 rs1216811572	24	N>K		No	ClinGen gnomAD
CA362004082 rs1454353725	24	N>S		No	ClinGen gnomAD
CA362004086 rs1290766945	25	V>M		No	ClinGen gnomAD
rs541523345 CA3525728	26	G>E		No	ClinGen ExAC gnomAD
CA362004093 rs1383102450	26	G>R		No	ClinGen TOPMed
CA362004105 rs1250712577	28	W>R		No	ClinGen gnomAD
rs1319572643 CA362004112	29	A>T		No	ClinGen gnomAD
rs1371482562 CA362004117	29	A>V		No	ClinGen gnomAD
CA362004131 rs1235996066	32	R>S		No	ClinGen gnomAD
CA362004139 rs1458447134	33	E>A		No	ClinGen TOPMed
rs377183023 CA130393504	33	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
CA3525729 rs553318217	34	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs929000327 CA130393505	36	P>S		No	ClinGen TOPMed gnomAD
rs1349080032 CA362004168	37	D>E		No	ClinGen TOPMed gnomAD
rs1208665035 CA362004172	38	G>D		No	ClinGen gnomAD
rs777582011 CA3525730	40	P>A		No	ClinGen ExAC
CA3525731 rs748909453	40	P>H		No	ClinGen ExAC gnomAD
rs750282728 CA130393506	42	G>E		No	ClinGen TOPMed gnomAD
CA3525732 rs770677796	44	G>R		No	ClinGen ExAC gnomAD
CA362004210 rs1252595960	45	A>E		No	ClinGen TOPMed gnomAD
CA362004211 rs1252595960	45	A>G		No	ClinGen TOPMed gnomAD
rs1252595960 CA362004212	45	A>V		No	ClinGen TOPMed gnomAD
CA362004215 rs1161292748	46	A>T		No	ClinGen gnomAD
CA362004224 rs1561623703	47	V>G		No	ClinGen Ensembl
CA362004228 rs1451472348	48	A>E		No	ClinGen TOPMed gnomAD
rs1362146235 CA362004225	48	A>T		No	ClinGen gnomAD
rs1158369720 CA362004242	50	A>V		No	ClinGen gnomAD
CA362004248 rs1232535027	51	A>V		No	ClinGen TOPMed
CA362004253 rs774055519	52	G>A		No	ClinGen ExAC gnomAD
CA3525734 rs774055519	52	G>V		No	ClinGen ExAC gnomAD
CA130393508 rs984202808	53	Q>E		No	ClinGen gnomAD
rs1408674074 CA362004656	54	G>S		No	ClinGen gnomAD
rs1293443641 CA362004667	55	S>L		No	ClinGen gnomAD
CA3525742 rs765419989	57	S>C		No	ClinGen ExAC gnomAD
CA362004678 rs1232009146	57	S>N		No	ClinGen gnomAD
rs750524622 CA3525743	58	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3525744 rs370969922	58	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA362004685 rs370969922	58	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3429180 CA362004684 COSM3429179 rs370969922	58	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA130404450 rs958844634	60	K>N		No	ClinGen Ensembl
rs1207108682 CA362004697	60	K>R		No	ClinGen gnomAD
CA3525745 rs780995129 COSM4155569 COSM4155568	62	T>M	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	62	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	63	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1407197178 CA362004739	66	G>R		No	ClinGen TOPMed
TCGA novel	67	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362004763 rs1178855492	69	Q>R		No	ClinGen TOPMed
CA3525749 rs749070888	73	D>A		No	ClinGen ExAC TOPMed gnomAD
CA362004799 rs1377158268	74	W>S		No	ClinGen TOPMed
rs770767701 CA3525750	75	H>Y		No	ClinGen ExAC gnomAD
rs142239169 CA3525751	80	I>V		No	ClinGen ESP ExAC gnomAD
CA3525752 rs745377742	81	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1352394102 CA362004848	81	R>W		No	ClinGen TOPMed gnomAD
CA362004866 rs1413428054	84	A>T		No	ClinGen TOPMed gnomAD
rs146720050 CA3525755 COSM294398	86	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs200653755 CA3525756	86	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3525758 rs140354249	87	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1064713 CA362004987 rs1182876835	99	T>I	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA3525782 rs748567978	100	D>N		No	ClinGen ExAC gnomAD
rs759683121 CA3525783	101	A>P		No	ClinGen ExAC gnomAD
CA362005007 rs939642021	102	E>D		No	ClinGen gnomAD
rs764129503 CA3525784	103	R>T		No	ClinGen ExAC gnomAD
rs1368967086 CA362005033	106	Q>P		No	ClinGen gnomAD
CA362005047 rs1280160046	108	Y>*		No	ClinGen gnomAD
CA3525786 rs757136989	108	Y>F		No	ClinGen ExAC gnomAD
CA3525787 rs765038396	109	R>Q	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	112	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362005080 rs1331109192	113	F>C		No	ClinGen Ensembl
CA362005076 rs1222175505	113	F>L		No	ClinGen gnomAD
rs750157494 CA3525789	115	I>L		No	ClinGen ExAC gnomAD
rs750157494 CA3525788	115	I>V		No	ClinGen ExAC gnomAD
CA362005105 rs144259960	117	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3525791 rs144259960	117	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3525792 rs754420824	118	S>G		No	ClinGen ExAC gnomAD
rs781674331 CA362005120	119	D>G		No	ClinGen ExAC gnomAD
rs1561653918 CA362005116	119	D>N		No	ClinGen Ensembl
rs781674331 CA3525793	119	D>V		No	ClinGen ExAC gnomAD
rs1561653928 CA362005160	125	R>C		No	ClinGen Ensembl
CA362005162 rs1470861749	125	R>H		No	ClinGen TOPMed gnomAD
rs1470861749 CA362005163	125	R>L		No	ClinGen TOPMed gnomAD
rs1290322305 CA362005169	126	S>C		No	ClinGen TOPMed
CA130404774 rs890227372	127	L>F		No	ClinGen TOPMed
rs1179453803 CA362005180	128	P>R		No	ClinGen gnomAD
CA362005184 rs1454122827	129	D>N		No	ClinGen gnomAD
CA3525796 rs369164195	130	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA3525795 rs369164195	130	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3525798 rs756983564	131	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs538296822 CA3525797	131	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs973621370 CA130404775	132	H>N		No	ClinGen TOPMed gnomAD
TCGA novel	137	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1424187728 CA362004312	138	K>E		No	ClinGen TOPMed
COSM1064714 rs150192577 CA3525823	139	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
COSM3661635 rs762822794 COSM269222 CA3525824	139	R>H	Variant assessed as Somatic; 0.0 impact. liver large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1243781940 CA362004326	140	Y>C		No	ClinGen gnomAD
rs1243781940 CA362004325	140	Y>S		No	ClinGen gnomAD
CA3525826 rs191295808	142	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3525828 rs767143079	145	P>S		No	ClinGen ExAC
CA3525829 rs376432659	149	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA362004399 rs1581976384	151	I>T		No	ClinGen Ensembl
rs1461400576 CA362004395	151	I>V		No	ClinGen TOPMed
CA362004429 rs201614245	155	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1301016919 CA362004431	156	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3525831 rs778355260	158	W>*		No	ClinGen ExAC gnomAD
CA3525832 rs754248171	159	S>C		No	ClinGen ExAC TOPMed gnomAD
CA3525833 rs757669323	161	L>F		No	ClinGen ExAC gnomAD
CA130407941 rs934984053	163	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA362004477 rs1395963489	163	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA362004479 rs1395963489	163	R>L		No	ClinGen gnomAD
CA3525835 rs746209138	164	T>I		No	ClinGen ExAC TOPMed gnomAD
CA362004486 rs780422451	165	V>F		No	ClinGen ExAC TOPMed gnomAD
CA3525837 COSM1064715 rs780422451	165	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3525838 rs747119934	166	H>P		No	ClinGen ExAC gnomAD
rs1420673753 CA362004514	169	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs143021082 CA3525842	170	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3525841 rs143021082	170	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs111378217 CA3525843	171	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs111378217 CA130407943	171	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3525844 rs759320997	172	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1344858036 CA362004542	174	P>S		No	ClinGen gnomAD
CA362004555 rs775064214	176	L>V		No	ClinGen ExAC TOPMed gnomAD
rs760251759 CA3525847	177	V>F		No	ClinGen ExAC TOPMed gnomAD
rs760251759 CA3525848	177	V>L		No	ClinGen ExAC TOPMed gnomAD
rs757748797 CA362004563	178	A>P		No	ClinGen ExAC TOPMed gnomAD
rs757748797 CA362004564	178	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM1064716 rs757748797 CA3525850	178	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA362004568 COSM3612884 COSM3612885 rs1455800951	179	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA3525852 rs750888067	180	I>M		No	ClinGen ExAC gnomAD
CA362004590 rs1465448209	182	L>Q		No	ClinGen gnomAD
rs922626660 CA130407945	183	V>I		No	ClinGen TOPMed gnomAD
CA130407946 rs200640486	184	D>N		No	ClinGen TOPMed gnomAD
TCGA novel	186	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1371188603 CA362004638	189	R>*		No	ClinGen TOPMed gnomAD
CA362004637 rs1371188603	189	R>G		No	ClinGen TOPMed gnomAD
rs200301599 CA3525856	189	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs866441565 CA130412665	190	E>V		No	ClinGen Ensembl
rs1220100969 CA362005236	191	H>Y		No	ClinGen gnomAD
TCGA novel	192	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA130412666 rs370485575	196	L>F		No	ClinGen ESP TOPMed
CA362005291 rs1180691505	199	Y>H		No	ClinGen gnomAD
CA3525922 rs751467853	200	M>V		No	ClinGen ExAC gnomAD
rs781081604 CA3525924	202	L>F		No	ClinGen ExAC gnomAD
CA362005316 rs1343249287	202	L>R		No	ClinGen TOPMed
CA3525925 rs201987167	204	P>L		No	ClinGen ExAC gnomAD
CA130412668 rs755889551	205	S>I		No	ClinGen ExAC gnomAD
rs755889551 CA3525926	205	S>N		No	ClinGen ExAC gnomAD
rs777563929 CA3525927	206	V>M		No	ClinGen ExAC
CA362005354 rs1408120667	208	I>M		No	ClinGen gnomAD
COSM126718 CA362005362 rs1306080842	210	R>*	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA362005363 rs1335161429	210	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA362005370 rs1581998954	211	T>S		No	ClinGen Ensembl
CA130412669 COSM1285112 rs760733045	214	R>W	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA3525929 rs770426085	216	G>R		No	ClinGen ExAC gnomAD
rs1176591241 CA362005431	221	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM1435407 rs746426348 CA3525931	221	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3525932 rs772434071	224	G>R		No	ClinGen ExAC gnomAD
CA362005453 rs1561675806	225	A>T		No	ClinGen Ensembl
CA362005461 rs1484659162	226	S>A		No	ClinGen TOPMed
rs775888631 CA3525933	228	A>S		No	ClinGen ExAC TOPMed gnomAD
CA3525934 rs761019467	228	A>V		No	ClinGen ExAC gnomAD
CA130412671 rs1005948664	231	D>H		No	ClinGen Ensembl
rs1335092464 CA362005501	233	I>V		No	ClinGen Ensembl
CA362005519 rs1472568295 COSM3827493 COSM3827494	235	F>L	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs761825866 CA3525937	240	C>S		No	ClinGen ExAC gnomAD
rs1168114626 CA362005565	242	A>T		No	ClinGen gnomAD
CA3525938 rs116636563	243	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750441555 CA3525939	245	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1296342224 CA362005588	245	N>S		No	ClinGen TOPMed
rs1216573576 CA362005591	246	W>R		No	ClinGen TOPMed
rs997094257 CA130412673	247	L>R		No	ClinGen Ensembl
CA3525941 rs754994216	248	P>S		No	ClinGen ExAC TOPMed gnomAD
CA362005613 rs1297853224	249	P>H		No	ClinGen TOPMed gnomAD
rs540440277	250	L>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA130413074 rs368297109	252	D>G		No	ClinGen ESP TOPMed gnomAD
CA3525954 rs776871894	253	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3525955 rs762137832	253	R>H		No	ClinGen ExAC TOPMed gnomAD
rs762137832 CA3525956	253	R>L		No	ClinGen ExAC TOPMed gnomAD
CA362005652 rs1268373860	254	I>V		No	ClinGen gnomAD
CA3525957 rs372572304	256	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3941204 CA130413076 COSM3941203 rs1036938665	256	R>W	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs540856217 CA3525958	257	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3525959 rs767568340	258	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3525960 rs752631938	258	R>H		No	ClinGen ExAC gnomAD
CA362005694 rs1287901142	261	I>L		No	ClinGen TOPMed gnomAD
rs764021056 CA3525962	262	V>A		No	ClinGen ExAC TOPMed gnomAD
rs756987983 CA3525964	264	P>L		No	ClinGen ExAC gnomAD
rs753553696 CA3525963	264	P>S		No	ClinGen ExAC gnomAD
CA362005726 rs1201074220	266	I>V		No	ClinGen TOPMed
rs200328783 CA362005738	267	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362005732 rs1561677044	267	D>N		No	ClinGen Ensembl
CA362005749 rs1327489320	269	I>N		No	ClinGen gnomAD
CA362005751 rs1327489320	269	I>T		No	ClinGen gnomAD
rs1326142127 CA362005765	271	H>R		No	ClinGen Ensembl
CA3525970 rs747477375	273	D>G		No	ClinGen ExAC gnomAD
rs780564646 CA3525969	273	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780564646 CA362005778	273	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs750156119 CA130413078	274	F>*		No	ClinGen Ensembl
CA3525971 rs769124558	274	F>L		No	ClinGen ExAC TOPMed gnomAD
rs781588576 CA362005793	275	R>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3525972 rs781588576	275	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1182774029 CA362005791	275	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3525976 CA3525975 rs770121388	276	Y>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3525977 rs771092965	277	E>D		No	ClinGen ExAC gnomAD
CA130413079 rs868139541	277	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA362005814 rs1421118196	279	Q>E		No	ClinGen TOPMed gnomAD
CA3525978 rs377273675	282	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA362005857 rs1310370303	285	R>Q		No	ClinGen TOPMed gnomAD
rs760742738 CA3525979	285	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753728855 CA3525981	289	D>G		No	ClinGen ExAC gnomAD
CA130413080 rs894990403	290	W>*		No	ClinGen TOPMed
rs1323676503 CA362005907	292	M>I		No	ClinGen TOPMed gnomAD
CA362005901 rs1313896255	292	M>L		No	ClinGen gnomAD
rs761445838 CA3525982	293	Y>C		No	ClinGen ExAC gnomAD
CA362005921 rs1479217607	294	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA130413082 rs2351476	295	K>*		No	ClinGen Ensembl
CA362005931 rs1198650111	295	K>N		No	ClinGen TOPMed
rs1267713448 CA362005928	295	K>R		No	ClinGen TOPMed
rs764954032 CA362005934	296	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3525983 rs764954032	296	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA130413083 rs2161344	296	R>W		No	ClinGen TOPMed gnomAD
CA3525984 rs749998278	297	I>T		No	ClinGen ExAC gnomAD
CA362005946 rs1194548910	298	P>L		No	ClinGen TOPMed
rs1253878344 CA362005941	298	P>T		No	ClinGen gnomAD
CA362005959 rs1263772085	300	P>L		No	ClinGen TOPMed
rs368896641 CA3525985	303	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed
CA362005979 rs1256624195	304	Q>E		No	ClinGen gnomAD
CA3525986 rs779584554	306	A>D		No	ClinGen ExAC gnomAD
TCGA novel	306	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751050579 CA3525987	308	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1429813684 CA362006010	308	P>L		No	ClinGen gnomAD
CA362006011 rs1429813684	308	P>R		No	ClinGen gnomAD
CA362006008 rs751050579	308	P>T		No	ClinGen ExAC TOPMed gnomAD
rs200736059 CA3525989	310	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3525990 rs748552291	312	F>I		No	ClinGen ExAC
CA3526009 rs768084638	313	E>D		No	ClinGen ExAC TOPMed gnomAD
CA3525991 rs769997712	313	E>K		No	ClinGen ExAC gnomAD
rs921043684 CA130033160	314	S>T		No	ClinGen TOPMed
rs952352426 CA130033168	316	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	318	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1485251045 CA361901001	319	G>D		No	ClinGen gnomAD
rs1225296139 CA361900993	319	G>S		No	ClinGen TOPMed
rs1191337886 CA361901040	322	F>L		No	ClinGen gnomAD
CA3526015 rs139262954	323	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA361901061 rs1176103102	323	A>V		No	ClinGen gnomAD
CA3526016 rs775372012	324	V>M		No	ClinGen ExAC TOPMed gnomAD
rs771993302 CA3526017	325	D>H		No	ClinGen ExAC gnomAD
CA3526020 rs377526323	326	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3526021 rs377526323	326	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs776665628 CA3526018	326	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361901118 rs762733735	327	K>E		No	ClinGen ExAC gnomAD
CA3526022 rs762733735	327	K>Q		No	ClinGen ExAC gnomAD
rs370165932 CA130033237	327	K>R		No	ClinGen ESP TOPMed
rs144099170 CA3526025	333	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs773937139 CA3526024	333	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3526027 rs752228142	334	G>E		No	ClinGen ExAC gnomAD
rs374511506 CA3526026	334	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756637698 CA3526028	335	Y>D		No	ClinGen ExAC gnomAD
CA130033260 rs556767050	337	P>S		No	ClinGen 1000Genomes gnomAD
CA3526030 rs376469597	338	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1253231050 CA361901442	340	E>A		No	ClinGen gnomAD
CA3526032 rs779298067	340	E>D		No	ClinGen ExAC
CA361901477 rs1582003906	341	I>T		No	ClinGen Ensembl
CA361901519 rs1473769585	342	W>C		No	ClinGen gnomAD
rs746044673 CA3526033	344	G>E		No	ClinGen ExAC gnomAD
rs1039768826 CA130033319	345	E>G		No	ClinGen Ensembl
rs1561678644 CA361901589	346	Q>*		No	ClinGen Ensembl
CA361901617 rs1303609758	347	Y>C		No	ClinGen TOPMed
CA361901605 rs1406189695	347	Y>D		No	ClinGen gnomAD
CA361901602 rs1406189695	347	Y>N		No	ClinGen gnomAD
CA3526035 rs202216584	350	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA361901693 rs1292113808	350	S>F		No	ClinGen TOPMed
rs148741733 CA3526036	351	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361901755 rs1351101222	352	K>N		No	ClinGen TOPMed gnomAD
CA3526074 rs201377561	353	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1320790513	358	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA361904084 rs1379955753	358	G>D		No	ClinGen gnomAD
CA3526077 rs142364912	359	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs745659437 CA3526078	359	R>H		No	ClinGen ExAC gnomAD
TCGA novel	360	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771848465 CA3526079	364	P>A		No	ClinGen ExAC
rs371395496 CA3526080	364	P>L		No	ClinGen ESP ExAC gnomAD
CA361904143 rs1323250970	367	R>T		No	ClinGen gnomAD
CA3526082 rs768403210	369	G>A		No	ClinGen ExAC gnomAD
rs776342363 CA3526084	371	I>M		No	ClinGen ExAC gnomAD
CA361904194 rs1280234355	374	K>N		No	ClinGen Ensembl
rs761407846 CA3526085	374	K>T		No	ClinGen ExAC TOPMed gnomAD
CA361904207 rs1452072700	376	V>A		No	ClinGen gnomAD
rs1266753095 CA361904227	378	Y>C		No	ClinGen gnomAD
CA361904261 rs1561684621	379	K>N		No	ClinGen Ensembl
rs773711751 CA3526087	381	P>L		No	ClinGen ExAC gnomAD
rs773711751 CA361904286	381	P>R		No	ClinGen ExAC gnomAD
rs1451203322 CA361904292	382	A>T		No	ClinGen gnomAD
CA3526090 rs540121328	383	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1406293735 CA361904323	384	V>I		No	ClinGen gnomAD
rs912590775 CA130047868	385	S>G		No	ClinGen TOPMed
rs752778520 CA3526093	385	S>N		No	ClinGen ExAC gnomAD
CA361904410 rs1309622151	388	R>Q		No	ClinGen TOPMed gnomAD
rs756129164 CA3526094	388	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3526130 rs776840464	392	R>Q		No	ClinGen ExAC gnomAD
rs768745296 CA3526129	392	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761735906 CA3526131	393	V>M		No	ClinGen ExAC gnomAD
CA130051915 rs968419437	395	E>D		No	ClinGen Ensembl
TCGA novel	395	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751497664 CA3526133 COSM3827498	395	E>K	Variant assessed as Somatic; 4.62e-05 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs199954427 CA3526134	397	W>*		No	ClinGen 1000Genomes ExAC TOPMed
CA3526135 rs140453579	398	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs752519701 CA3526136	399	D>G		No	ClinGen ExAC gnomAD
CA361906728 rs1166579379	401	Y>D		No	ClinGen gnomAD
CA361906726 rs1166579379	401	Y>H		No	ClinGen gnomAD
rs202225318 CA130051942	402	A>S		No	ClinGen ExAC TOPMed gnomAD
rs202225318 CA3526138	402	A>T		No	ClinGen ExAC TOPMed gnomAD
rs772113975 CA130051953	403	E>D		No	ClinGen Ensembl
rs753401443 CA3526139	404	Y>H		No	ClinGen ExAC gnomAD
rs756672155 CA3526140	405	I>V		No	ClinGen ExAC TOPMed gnomAD
CA361906829 rs1359719352	406	Y>D		No	ClinGen gnomAD
CA361906879 rs1315029260	408	R>C		No	ClinGen gnomAD
CA3526141 rs147103681	408	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs764097403 CA361906897	409	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3526143 rs764097403	409	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs202239148 CA3526142	409	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs267600504 CA130051974	411	E>K		No	ClinGen gnomAD
CA361906957 rs1262120665	412	Y>F		No	ClinGen gnomAD
rs780452300 CA3526144	413	R>C		No	ClinGen ExAC TOPMed gnomAD
CA361906979 rs1217244433	413	R>H		No	ClinGen gnomAD
rs747372600 CA3526145	414	H>Q		No	ClinGen ExAC gnomAD
rs1200754006 CA361907011	415	L>I		No	ClinGen TOPMed gnomAD
rs1353126432 CA361907028	416	S>P		No	ClinGen TOPMed
CA130051994 rs375000619	417	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs369435277 CA3526148 COSM1207841	421	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3526149 rs769721586	422	V>I		No	ClinGen ExAC gnomAD
rs759599396 CA3526151	427	R>C		No	ClinGen ExAC TOPMed gnomAD
CA361907201 rs1561686498 COSM327580	427	R>H	large_intestine Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA3526152 rs767552067	429	S>C		No	ClinGen ExAC gnomAD
rs751593382 CA3526154	430	L>I		No	ClinGen ExAC gnomAD
rs139635794 CA3526155	433	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	437	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361907405 rs1382411297	438	F>Y		No	ClinGen TOPMed
rs147745456 CA361907437	440	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs147745456 COSM1435409 CA3526156	440	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3526157 rs147745456	440	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs758969315 CA3526160	444	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1222670857 CA361907508	444	W>C		No	ClinGen gnomAD
rs758969315 CA361907504	444	W>L		No	ClinGen ExAC TOPMed gnomAD
rs1294502034 CA361907518	445	D>N		No	ClinGen gnomAD
rs1199089845 CA361907558	447	P>R		No	ClinGen gnomAD
CA361907553 rs1582018725	447	P>S		No	ClinGen Ensembl
CA3526162 rs747389070	448	K>R		No	ClinGen ExAC TOPMed
rs768855508 CA3526164	452	P>S		No	ClinGen ExAC
rs117925322 CA3526166	453	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3526168 rs773486061	455	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3526170 rs200478812	456	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3526169 rs200478812	456	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361907686 rs754234880	460	W>*		No	ClinGen ExAC TOPMed gnomAD
COSM4159667 rs754234880 CA3526175 CA3526174	460	W>C	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA361907683 rs1322850349	460	W>L		No	ClinGen gnomAD
rs373237804 CA3526176	461	G>R		No	ClinGen ESP ExAC gnomAD
CA361907697 rs749942538	462	E>D		No	ClinGen ExAC TOPMed gnomAD
rs777013321	462	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA3526177 rs764863010	462	E>K		No	ClinGen ExAC TOPMed gnomAD
rs753010738 CA3526202	463	I>T		No	ClinGen ExAC gnomAD
rs1300954685 CA361908595	464	R>*		No	ClinGen gnomAD
CA3526204 rs142635658	464	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142635658 RCV000895997 CA3526203	464	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1476379508 CA361908608	466	V>A		No	ClinGen gnomAD
rs200600903 CA361908605	466	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs200600903 CA3526205	466	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs778917084 CA3526207	468	T>A		No	ClinGen ExAC TOPMed gnomAD
rs745955681 CA3526208	468	T>I		No	ClinGen ExAC TOPMed gnomAD
CA3526211 rs747919127	469	G>E		No	ClinGen ExAC TOPMed gnomAD
rs370371473 CA3526209 CA3526210	469	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3526212 rs143091614	474	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs577854465 CA3526214	477	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs373562892 CA361908676	478	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs373562892 CA3526215	478	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1324647293 CA361908691	480	G>D		No	ClinGen gnomAD
rs201408248 CA3526216	481	S>F		No	ClinGen ExAC TOPMed gnomAD
CA361908704 rs1192405787	482	P>L		No	ClinGen TOPMed
CA3526218 rs767929676	485	L>P		No	ClinGen ExAC TOPMed gnomAD
rs917161082 CA130054685	486	E>G		No	ClinGen TOPMed
rs1205768103 COSM1064723 CA361908741	487	G>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3526220 rs761229479	489	V>G		No	ClinGen ExAC gnomAD
rs146258951 CA130054711	489	V>I		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA3526221 rs764597753	490	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3526222 rs754240894	490	R>Q	Variant assessed as Somatic; 4.707e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3526223 rs757619293	492	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs779123658 CA3526224	492	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs909875125 CA361908857	495	A>P		No	ClinGen gnomAD
rs909875125 CA130054764	495	A>T		No	ClinGen gnomAD
rs1398468613 CA361908893	497	W>*		No	ClinGen gnomAD
CA3526246 rs1263911922 CA361909530	507	W>C		No	ClinGen TOPMed
TCGA novel	508	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3674369 CA361909553 rs1252215886	509	E>D	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1369983616 CA361909546	509	E>K		No	ClinGen gnomAD
TCGA novel	510	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777623511 CA3526249	512	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	517	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1308727698 CA361909643	519	T>N		No	ClinGen gnomAD
rs1323478085 CA361909658	521	K>R		No	ClinGen TOPMed
rs1314725134 CA361909664	522	F>V		No	ClinGen gnomAD
rs778538784 CA3526252	525	D>V		No	ClinGen ExAC gnomAD
rs745580007 CA3526253	526	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1582022733 CA361909719	528	S>P		No	ClinGen Ensembl
CA361909744 rs1582022735	530	T>P		No	ClinGen Ensembl
rs771607017 CA3526254	530	T>S		No	ClinGen ExAC gnomAD
rs775206773 CA361909770	532	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3526255 rs775206773	532	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1232557436 CA361909765	532	P>S		No	ClinGen TOPMed
CA3526257 rs35810347	534	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM449164 rs200092315 CA3526260	537	D>N	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs551289075 CA130057018	540	S>G		No	ClinGen 1000Genomes
rs766509677 CA3526263	543	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1252896374 CA361909929	545	Q>P		No	ClinGen gnomAD
CA3526264 rs751647664	546	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1462213616 CA361909992	550	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA361909991 rs1462213616	550	R>G		No	ClinGen TOPMed gnomAD
rs145995359 CA3526267	550	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145995359 CA3526266	550	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3526268 rs145995359	550	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3526291 rs750246554	552	D>G		No	ClinGen ExAC gnomAD
CA361910492 rs1418659566	553	K>R		No	ClinGen TOPMed gnomAD
CA361910523 rs1582023563	556	Y>S		No	ClinGen Ensembl
CA361910537 rs1582023570	557	H>P		No	ClinGen Ensembl
CA361910533 rs1162720679	557	H>Y		No	ClinGen gnomAD
rs751299218 CA3526294 CA3526295	560	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1346970084 CA361910592	562	S>R		No	ClinGen gnomAD
rs780906906 CA3526296	568	E>K		No	ClinGen ExAC
CA361910682 rs1582023595	569	S>R		No	ClinGen Ensembl
CA361910683 rs1217071200	570	D>N		No	ClinGen gnomAD
CA361910697 rs1561689140	571	H>D		No	ClinGen Ensembl
rs1300189829 CA361910702	571	H>R		No	ClinGen gnomAD
TCGA novel	572	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1316923780 CA361910725	573	I>V		No	ClinGen gnomAD
rs1217401447 CA361910737	574	F>L		No	ClinGen gnomAD
rs1354132887 CA361910758	575	M>R		No	ClinGen TOPMed
rs1176991986 CA361910784	577	T>I		No	ClinGen TOPMed
rs1582023617 CA361910781	577	T>P		No	ClinGen Ensembl
rs139580325 CA3526297	579	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1223648047 CA361910831	581	S>F		No	ClinGen gnomAD
CA361910838 rs1299641478	582	S>F		No	ClinGen gnomAD
CA3526299 rs778088904	582	S>P		No	ClinGen ExAC gnomAD
TCGA novel	584	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3526301 rs749688970	586	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA3526300 rs749688970	586	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA361910886 rs1370795976	587	W>*		No	ClinGen gnomAD
CA3526305 rs772272939	589	F>L		No	ClinGen ExAC gnomAD
rs772272939 CA3526304	589	F>V		No	ClinGen ExAC gnomAD
CA3526307 rs765242816	592	T>A		No	ClinGen ExAC TOPMed gnomAD
rs535948214 CA130057988	592	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs535948214 CA3526308	592	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs927871875 CA130058009	594	S>A		No	ClinGen TOPMed
CA361910989 rs1434038255	595	T>I		No	ClinGen gnomAD
rs1373682897 CA361911040	599	K>N		No	ClinGen gnomAD
rs751387119 CA3526311	600	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs754745418 CA3526312	601	N>D		No	ClinGen ExAC gnomAD
CA361911086 rs1561689221	603	N>S		No	ClinGen Ensembl

No associated diseases with Q86SR1

3 regional properties for Q86SR1

Type	Name	Position	InterPro Accession
domain	Ricin B, lectin domain	459 - 590	IPR000772
domain	Glycosyltransferase 2-like	148 - 332	IPR001173
domain	N-acetylgalactosaminyltransferase	148 - 443	IPR045885

Functions

		Description
EC Number	2.4.1.41	Hexosyltransferases
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 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.
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.

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.
metal ion binding	Binding to a metal ion.
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.

2 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.

27 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q07537	GALNT1	Polypeptide N-acetylgalactosaminyltransferase 1	Bos taurus (Bovine)	PR
Q6WV17	Pgant5	Polypeptide N-acetylgalactosaminyltransferase 5	Drosophila melanogaster (Fruit fly)	PR
Q9Y117	Pgant3	Polypeptide N-acetylgalactosaminyltransferase 3	Drosophila melanogaster (Fruit fly)	PR
Q6WV16	Pgant6	N-acetylgalactosaminyltransferase 6	Drosophila melanogaster (Fruit fly)	PR
Q86SF2	GALNT7	N-acetylgalactosaminyltransferase 7	Homo sapiens (Human)	PR
Q49A17	GALNTL6	Polypeptide N-acetylgalactosaminyltransferase-like 6	Homo sapiens (Human)	PR
Q8IUC8	GALNT13	Polypeptide N-acetylgalactosaminyltransferase 13	Homo sapiens (Human)	PR
Q96FL9	GALNT14	Polypeptide N-acetylgalactosaminyltransferase 14	Homo sapiens (Human)	PR
Q10471	GALNT2	Polypeptide N-acetylgalactosaminyltransferase 2	Homo sapiens (Human)	PR
Q8IXK2	GALNT12	Polypeptide N-acetylgalactosaminyltransferase 12	Homo sapiens (Human)	PR
Q14435	GALNT3	Polypeptide N-acetylgalactosaminyltransferase 3	Homo sapiens (Human)	PR
Q9NY28	GALNT8	Probable polypeptide N-acetylgalactosaminyltransferase 8	Homo sapiens (Human)	PR
Q7Z7M9	GALNT5	Polypeptide N-acetylgalactosaminyltransferase 5	Homo sapiens (Human)	PR
Q10472	GALNT1	Polypeptide N-acetylgalactosaminyltransferase 1	Homo sapiens (Human)	PR
O08912	Galnt1	Polypeptide N-acetylgalactosaminyltransferase 1	Mus musculus (Mouse)	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
Q29121	GALNT1	Polypeptide N-acetylgalactosaminyltransferase 1	Sus scrofa (Pig)	PR
O88422	Galnt5	Polypeptide N-acetylgalactosaminyltransferase 5	Rattus norvegicus (Rat)	PR
Q10473	Galnt1	Polypeptide N-acetylgalactosaminyltransferase 1	Rattus norvegicus (Rat)	PR
Q6UE39	Galnt13	Polypeptide N-acetylgalactosaminyltransferase 13	Rattus norvegicus (Rat)	PR
Q925R7	Galnt10	Polypeptide N-acetylgalactosaminyltransferase 10	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
O61397	gly-7	Probable N-acetylgalactosaminyltransferase 7	Caenorhabditis elegans	PR

10	20	30	40	50	60
MRRKEKRLLQ	AVALVLAALV	LLPNVGLWAL	YRERQPDGTP	GGSGAAVAPA	AGQGSHSRQK
70	80	90	100	110	120
KTFFLGDGQK	LKDWHDKEAI	RRDAQRVGNG	EQGRPYPMTD	AERVDQAYRE	NGFNIYVSDK
130	140	150	160	170	180
ISLNRSLPDI	RHPNCNSKRY	LETLPNTSII	IPFHNEGWSS	LLRTVHSVLN	RSPPELVAEI
190	200	210	220	230	240
VLVDDFSDRE	HLKKPLEDYM	ALFPSVRILR	TKKREGLIRT	RMLGASVATG	DVITFLDSHC
250	260	270	280	290	300
EANVNWLPPL	LDRIARNRKT	IVCPMIDVID	HDDFRYETQA	GDAMRGAFDW	EMYYKRIPIP
310	320	330	340	350	360
PELQKADPSD	PFESPVMAGG	LFAVDRKWFW	ELGGYDPGLE	IWGGEQYEIS	FKVWMCGGRM
370	380	390	400	410	420
EDIPCSRVGH	IYRKYVPYKV	PAGVSLARNL	KRVAEVWMDE	YAEYIYQRRP	EYRHLSAGDV
430	440	450	460	470	480
AVQKKLRSSL	NCKSFKWFMT	KIAWDLPKFY	PPVEPPAAAW	GEIRNVGTGL	CADTKHGALG
490	500	510	520	530	540
SPLRLEGCVR	GRGEAAWNNM	QVFTFTWRED	IRPGDPQHTK	KFCFDAISHT	SPVTLYDCHS
550	560	570	580	590	600
MKGNQLWKYR	KDKTLYHPVS	GSCMDCSESD	HRIFMNTCNP	SSLTQQWLFE	HTNSTVLEKF

NRN