AiPD: Autoinhibited Protein Database

Q9NPZ5

Gene name	B3GAT2 (GLCATS, KIAA1963)
Protein name	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2
Names	C1q/MBL/SPA receptor, C1qR, C1qR(p), C1qRp, CDw93, Complement component 1 q subcomponent receptor 1, Matrix-remodeling-associated protein 4, Beta-1,3-glucuronyltransferase 2, GlcAT-D, UDP-glucuronosyltransferase S, GlcAT-S, Glucuronosyltransferase S
Species	Homo sapiens (Human)
KEGG Pathway	hsa:135152
EC number	2.4.1.135: Hexosyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

23-102 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

23-102 (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

2 structures for Q9NPZ5

Entry ID	Method	Resolution	Chain	Position	Source
2D0J	X-ray	200 A	A/B/C/D	78-323	PDB
AF-Q9NPZ5-F1	Predicted				AlphaFoldDB

328 variants for Q9NPZ5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs867164665 CA141275917	3	S>P		No	ClinGen Ensembl
rs906078505 CA141275915	4	A>E		No	ClinGen gnomAD
CA141275916 rs1002214080	4	A>T		No	ClinGen gnomAD
CA364814439 rs1450902438	7	T>A		No	ClinGen gnomAD
rs1325185498 CA364814429	8	R>L		No	ClinGen gnomAD
rs1319985521 CA364814409	11	I>S		No	ClinGen gnomAD
TCGA novel	14	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1162991706 CA364814349	20	I>S		No	ClinGen gnomAD
rs755345165 CA3884950	21	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	24	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364814313 rs751938366	25	V>E		No	ClinGen ExAC TOPMed gnomAD
CA3884948 rs751938366	25	V>G		No	ClinGen ExAC TOPMed gnomAD
CA364814300 rs766587551	27	T>K		No	ClinGen ExAC gnomAD
CA3884947 rs766587551	27	T>M		No	ClinGen ExAC gnomAD
rs1188647671 CA364814298	28	R>C		No	ClinGen gnomAD
rs762681415 CA3884946	28	R>H		No	ClinGen ExAC gnomAD
CA3884945 rs772803317	30	P>T		No	ClinGen ExAC gnomAD
rs1451816986 CA364814281	31	V>M		No	ClinGen TOPMed gnomAD
CA141275913 rs764758181	32	P>A		No	ClinGen ExAC TOPMed gnomAD
rs776603346 CA3884943	32	P>H		No	ClinGen ExAC gnomAD
CA3884942 rs776603346	32	P>L		No	ClinGen ExAC gnomAD
CA141275912 rs776603346	32	P>R		No	ClinGen ExAC gnomAD
CA3884944 rs764758181	32	P>S		No	ClinGen ExAC TOPMed gnomAD
rs768628314 CA3884941	33	P>R		No	ClinGen ExAC gnomAD
rs1297459149 CA364814262	35	T>A		No	ClinGen TOPMed gnomAD
rs775357510 CA3884939	35	T>I		No	ClinGen ExAC
CA364814253 rs1367497656	36	P>L		No	ClinGen TOPMed gnomAD
CA364814247 rs1323932222	37	R>H		No	ClinGen gnomAD
CA364814245 rs1350677261	38	P>A		No	ClinGen TOPMed gnomAD
CA364814246 rs1350677261	38	P>T		No	ClinGen TOPMed gnomAD
rs771703237 CA3884938	39	Y>C		No	ClinGen ExAC gnomAD
rs1274291271 CA364814226	40	F>L		No	ClinGen TOPMed
CA364814221 rs1369911793	41	S>C		No	ClinGen gnomAD
rs1369911793 CA364814220	41	S>F		No	ClinGen gnomAD
CA364814224 rs1344226062	41	S>P		No	ClinGen TOPMed
CA364814207 rs1451232846	43	Y>*		No	ClinGen gnomAD
rs1169091476 CA364814211	43	Y>D		No	ClinGen gnomAD
CA364814200 rs1214924443	44	A>V		No	ClinGen TOPMed gnomAD
CA3884937 rs778098066	45	V>L		No	ClinGen ExAC gnomAD
CA3884936 rs778098066	45	V>M		No	ClinGen ExAC gnomAD
CA364814195 rs1190109024	46	G>S		No	ClinGen gnomAD
CA3884935 rs756301520	46	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1487074443 CA364814190	47	R>C		No	ClinGen gnomAD
rs1369992157 CA364814184	48	G>R		No	ClinGen Ensembl
rs1436380989 CA364814177	49	G>S		No	ClinGen gnomAD
rs755504105 CA3884932	49	G>V		No	ClinGen ExAC gnomAD
TCGA novel rs758650135 CA3884929	50	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs758650135 CA141275910	50	A>T		No	ClinGen ExAC gnomAD
CA364814170 rs1301418576	50	A>V		No	ClinGen gnomAD
CA364814169 rs200678168	51	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3884928 rs200678168	51	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364814167 rs1368581480	51	R>L		No	ClinGen TOPMed gnomAD
CA364814158 rs554377076	53	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554377076 CA3884927	53	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3884925 rs765259453	54	L>P		No	ClinGen ExAC
rs765259453 CA364814150	54	L>R		No	ClinGen ExAC
rs1369775534 CA364814146	55	R>H		No	ClinGen gnomAD
rs760672632 CA3884922	56	R>S		No	ClinGen ExAC gnomAD
rs775237359 CA3884921	57	G>D		No	ClinGen ExAC gnomAD
rs1373488037 CA364814136	57	G>R		No	ClinGen TOPMed gnomAD
CA3884920 rs771928642	58	G>S		No	ClinGen ExAC gnomAD
CA364814125 rs1251628445	59	P>A		No	ClinGen gnomAD
rs535966421 CA141275907	61	H>Y		No	ClinGen 1000Genomes
CA3884916 rs748304217	62	G>A		No	ClinGen ExAC TOPMed gnomAD
rs781346844 CA3884915	64	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA3884914 rs768571781	67	N>K		No	ClinGen ExAC
rs1582407068 CA364814072	67	N>S		No	ClinGen Ensembl
rs965833167 CA141275906	68	Q>L		No	ClinGen Ensembl
CA141275905 rs907659442	69	S>P		No	ClinGen Ensembl
rs747583290 CA3884913	70	R>G		No	ClinGen ExAC gnomAD
CA141275904 rs995151563	70	R>P		No	ClinGen TOPMed
rs747583290 CA364814057	70	R>W		No	ClinGen ExAC gnomAD
rs780395953 CA3884912	71	P>L		No	ClinGen ExAC gnomAD
CA3884910 rs750778011	72	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA364814038 rs778605827	73	P>L		No	ClinGen ExAC TOPMed gnomAD
rs778605827 CA3884909	73	P>R		No	ClinGen ExAC TOPMed gnomAD
rs568523673 CA3884908	74	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs753427344 CA3884907	75	P>A		No	ClinGen ExAC TOPMed gnomAD
CA364814027 rs763680241	75	P>L		No	ClinGen ExAC gnomAD
CA3884906 rs763680241	75	P>R		No	ClinGen ExAC gnomAD
rs753427344 CA364814030	75	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	78	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752716799 CA3884904	79	L>V		No	ClinGen ExAC gnomAD
rs767334400 CA3884902	80	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1255840165 CA364813998	80	P>R		No	ClinGen TOPMed
CA141275902 rs767334400	80	P>S		No	ClinGen ExAC TOPMed gnomAD
rs556286650 CA141275901	82	I>V		No	ClinGen 1000Genomes TOPMed
rs759462366 CA3884900	83	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1181840325 CA364813974	84	A>D		No	ClinGen gnomAD
rs1181840325 CA364813972	84	A>V		No	ClinGen gnomAD
CA141275900 rs896531028	85	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	88	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762149503 CA3884897	88	T>I		No	ClinGen ExAC TOPMed gnomAD
rs776679570 CA3884895	89	Y>H		No	ClinGen ExAC TOPMed
CA3884894 rs201430647	90	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA141275899 rs534598813	91	R>C		No	ClinGen Ensembl
rs951776976 CA141275898	91	R>L		No	ClinGen gnomAD
rs951776976 CA364813931	91	R>P		No	ClinGen gnomAD
rs372158787 CA3884891	92	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3884893 rs372158787	92	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs372158787 CA3884892	92	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA364813926 rs1044005381	93	V>L		No	ClinGen TOPMed gnomAD
rs1044005381 CA141275897	93	V>M		No	ClinGen TOPMed gnomAD
CA3884888 rs757565890	94	Q>*		No	ClinGen ExAC gnomAD
CA3884887 rs753554542	95	K>*		No	ClinGen ExAC gnomAD
CA3884886 rs777256563	97	E>K		No	ClinGen ExAC gnomAD
CA141275894 rs759422862	100	R>C		No	ClinGen Ensembl
CA141275895 rs759422862	100	R>G		No	ClinGen Ensembl
rs755698058 CA3884884	100	R>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA364813878 rs1276128745	101	L>P		No	ClinGen TOPMed
CA3884882 rs767627778	102	A>T		No	ClinGen ExAC gnomAD
rs1342036540 CA364813874	102	A>V		No	ClinGen TOPMed
CA364813862 rs1424959405	104	T>A		No	ClinGen gnomAD
CA364813858 rs1416504952	104	T>M		No	ClinGen gnomAD
CA364813844 rs1186788828	106	R>L		No	ClinGen gnomAD
rs1248697412 CA364813821	110	Q>*		No	ClinGen gnomAD
CA364813803 rs766309638	112	H>Q		No	ClinGen ExAC gnomAD
rs1487623955 CA364813808	112	H>Y		No	ClinGen gnomAD
rs762810318 CA3884878	113	W>R		No	ClinGen ExAC gnomAD
rs764212379 CA3884877	114	I>L		No	ClinGen ExAC TOPMed gnomAD
rs764212379 COSM421249 CA3884876	114	I>V	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs775439822 CA3884874	115	L>P		No	ClinGen ExAC gnomAD
rs376563227 CA364813789	115	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA364813784 rs1365360758	116	V>L		No	ClinGen TOPMed gnomAD
CA364813785 rs1365360758	116	V>M		No	ClinGen TOPMed gnomAD
rs143511495 CA3884873	117	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs746394122 CA3884872	118	D>G		No	ClinGen ExAC gnomAD
rs774796873 CA3884871	119	A>E		No	ClinGen ExAC gnomAD
rs1458696838 CA364813755	120	A>V		No	ClinGen gnomAD
CA3884868 rs777538824	121	A>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	121	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1390935512 CA364813744	122	R>L		No	ClinGen gnomAD
CA364813736 rs747768660	123	S>R		No	ClinGen ExAC TOPMed gnomAD
rs780861676 CA364813735	124	E>*		No	ClinGen ExAC gnomAD
rs1266864918 CA364813733	124	E>A		No	ClinGen gnomAD
CA364813734 rs780861676	124	E>K		No	ClinGen ExAC gnomAD
rs780861676 CA3884865	124	E>Q		No	ClinGen ExAC gnomAD
rs373218616 CA3884863	125	L>Q		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA364813727 rs1210249959	125	L>V		No	ClinGen gnomAD
rs751590012 CA3884861	126	V>L		No	ClinGen ExAC gnomAD
rs766397393 CA3884860	127	S>N		No	ClinGen ExAC gnomAD
CA3884858 rs370336662	128	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA364813711 rs1404142377	128	R>H		No	ClinGen TOPMed
rs1404142377 CA364813709	128	R>L		No	ClinGen TOPMed
CA3884859 rs370336662	128	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1299249511 CA364813708	129	F>I		No	ClinGen gnomAD
rs760823778 CA3884856	131	A>E		No	ClinGen ExAC TOPMed gnomAD
rs765020213 CA3884857	131	A>T		No	ClinGen ExAC gnomAD
CA364813692 rs760823778	131	A>V		No	ClinGen ExAC TOPMed gnomAD
rs771414127 CA3884851	132	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3884852 rs771414127	132	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3884853 rs771414127	132	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA364813689 rs1429732689	133	A>T		No	ClinGen gnomAD
CA3884850 rs112409269	133	A>V		No	ClinGen ExAC TOPMed gnomAD
rs747788346 CA3884847 CA364813684	134	G>R		No	ClinGen ExAC gnomAD
rs1199915490 CA364813669	136	P>L		No	ClinGen gnomAD
rs1053255527 CA141275891	137	S>G		No	ClinGen Ensembl
rs1181175419 CA364813660	138	T>A		No	ClinGen gnomAD
rs1483838916 CA364813656	138	T>I		No	ClinGen TOPMed
CA3884842 rs758276244	139	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs879653030 CA141275890	141	H>Q		No	ClinGen Ensembl
CA3884841 rs750320042	142	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3884840 rs764968027	143	P>S		No	ClinGen ExAC gnomAD
rs752952453 CA3884838	146	R>G		No	ClinGen ExAC TOPMed gnomAD
rs767702737 CA3884837	146	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1175543237 CA364813588	150	R>W		No	ClinGen TOPMed
rs1351684850 CA364813577	152	G>R		No	ClinGen gnomAD
rs1351684850 CA364813578	152	G>W		No	ClinGen gnomAD
CA364813572 rs1394779972	153	L>M		No	ClinGen gnomAD
rs1399780826 CA364813569	153	L>P		No	ClinGen TOPMed
CA364813562 rs1401641105	154	P>L		No	ClinGen TOPMed gnomAD
rs1401641105 CA364813563	154	P>Q		No	ClinGen TOPMed gnomAD
rs1331577865 CA364813559	155	R>C		No	ClinGen TOPMed
CA364813552 rs1002276626	156	A>D		No	ClinGen TOPMed
CA141275887 rs1002276626	156	A>V		No	ClinGen TOPMed
rs773719748 CA141275886	157	T>A		No	ClinGen ExAC TOPMed gnomAD
CA3884832 rs773719748	157	T>P		No	ClinGen ExAC TOPMed gnomAD
CA3884833 rs773719748	157	T>S		No	ClinGen ExAC TOPMed gnomAD
rs762215470 CA3884830	159	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA141275885 rs983222335	159	Q>H		No	ClinGen gnomAD
rs951809246 CA141275884	160	R>G		No	ClinGen gnomAD
rs1185378404 CA364813531	160	R>H		No	ClinGen TOPMed gnomAD
rs1185378404 CA364813529	160	R>L		No	ClinGen TOPMed gnomAD
CA364813527 rs1199557412	161	N>D		No	ClinGen TOPMed
CA364813522 rs1441764337	161	N>K		No	ClinGen gnomAD
rs1256314846 CA364813505	164	L>H		No	ClinGen gnomAD
rs768419572 CA141275883	165	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3884828 rs768419572	165	A>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	165	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	166	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746595710 CA3884827	168	R>H		No	ClinGen ExAC TOPMed gnomAD
rs746595710 CA364813480	168	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3884825 rs771566480	173	H>P		No	ClinGen ExAC TOPMed gnomAD
CA364813436 rs1334945653	174	Q>R		No	ClinGen gnomAD
rs745827101 CA3884824	175	R>G		No	ClinGen ExAC gnomAD
rs1457935459 CA364813420	177	Q>*		No	ClinGen TOPMed gnomAD
CA3884822 rs778874580	178	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757048328 CA3884821	180	V>L		No	ClinGen ExAC gnomAD
rs1368913428 CA364813396	181	L>F		No	ClinGen TOPMed gnomAD
rs890603320 CA141275881	181	L>P		No	ClinGen TOPMed
rs753613802 CA3884820	182	F>L		No	ClinGen ExAC TOPMed gnomAD
rs781459405 CA3884819	183	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1554218657 CA3884816	184	A>S		No	ClinGen Ensembl
rs758035011 CA3884814	185	D>E		No	ClinGen ExAC TOPMed gnomAD
rs751723321 CA3884815	185	D>V		No	ClinGen ExAC gnomAD
rs750941214 CA364813362	186	D>E		No	ClinGen ExAC TOPMed gnomAD
CA364813350 rs1316312636	188	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA364813340 rs1169131005	189	T>S		No	ClinGen gnomAD
CA364813326 rs1248775136	191	S>T		No	ClinGen gnomAD
rs1363165645 CA364813313	193	E>G		No	ClinGen gnomAD
rs1266183025 CA364813292	196	Q>R		No	ClinGen TOPMed
CA3884793 rs368880277	198	M>L		No	ClinGen ExAC TOPMed gnomAD
rs750513549 CA3884792	199	R>*	Variant assessed as Somatic; 4.882e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs759621574 CA3884791	199	R>P		No	ClinGen ExAC TOPMed gnomAD
rs759621574 CA3884790	199	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs776621778 CA3884787	202	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM403829 CA364810010 rs1251670929	202	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1251670929 CA364810012	202	R>L		No	ClinGen TOPMed gnomAD
CA3884785 rs767180832	203	K>E		No	ClinGen ExAC gnomAD
rs867463178 CA141268339	205	S>F		No	ClinGen Ensembl
rs773915976 CA3884783	206	V>I		No	ClinGen ExAC gnomAD
rs943853919 CA141268338	207	W>*		No	ClinGen TOPMed gnomAD
CA364809979 rs943853919	207	W>C		No	ClinGen TOPMed gnomAD
rs770367885 CA3884782	209	V>L		No	ClinGen ExAC gnomAD
CA3884781 rs749246454	210	G>D		No	ClinGen ExAC gnomAD
rs1345724311 CA364809967	210	G>S		No	ClinGen TOPMed
CA364809951 rs1319799592	213	G>S		No	ClinGen TOPMed
rs538444071 CA3884779	213	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1582360276 CA364809936	215	R>L		No	ClinGen Ensembl
COSM3697941 CA364809933 rs1196668822	216	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA3884778 rs541631037	216	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs746022699 CA3884776	218	E>*		No	ClinGen ExAC gnomAD
rs746022699 CA3884775	218	E>K		No	ClinGen ExAC gnomAD
rs779074725 CA3884774	219	R>C		No	ClinGen ExAC gnomAD
CA3884773 rs757375740	219	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs757375740 CA364809914	219	R>P		No	ClinGen ExAC gnomAD
COSM1176528 CA3884771 rs764672977	220	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA364809906 rs1481905460	221	L>V		No	ClinGen gnomAD
rs371527631 CA3884768 CA3884767	224	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA141268334 rs772064174	225	G>D		No	ClinGen gnomAD
CA3884766 rs773823914	225	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA364809879 rs772064174	225	G>V		No	ClinGen gnomAD
rs765905195 CA3884765	226	K>*		No	ClinGen ExAC gnomAD
COSM597205 CA364809870 rs1328280287	227	V>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA364809862 rs1168885226	228	V>A		No	ClinGen TOPMed
rs748064015 CA141268333	228	V>I		No	ClinGen TOPMed gnomAD
CA3884763 rs367693161	229	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1582360143 CA364809844	231	Y>D		No	ClinGen Ensembl
rs769719606 CA3884762	232	T>A		No	ClinGen ExAC gnomAD
CA3884760 rs774249812	233	G>C		No	ClinGen ExAC TOPMed gnomAD
CA3884759 rs774249812	233	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1318186542 CA364809822	234	W>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs746136093 CA3884758	235	R>G		No	ClinGen ExAC gnomAD
rs867150619 CA141268331	235	R>I		No	ClinGen Ensembl
CA141268332 rs867150619	235	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs779250933 CA3884757	236	A>E		No	ClinGen ExAC gnomAD
TCGA novel	237	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364809809 rs1160274987	237	D>Y		No	ClinGen gnomAD
rs1412180321 CA364809792	239	P>H		No	ClinGen TOPMed gnomAD
rs1445262803 CA364809769 COSM451750	243	D>N	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA364809753 rs1245024150	244	M>I		No	ClinGen gnomAD
CA364809748 rs987713823	245	A>G		No	ClinGen Ensembl
CA364809752 rs1207106376	245	A>T		No	ClinGen gnomAD
CA141268329 rs987713823	245	A>V		No	ClinGen Ensembl
CA364813089 rs1367932495	246	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA364813072 rs1166827675	249	V>I		No	ClinGen TOPMed gnomAD
rs1562211527 CA364813063	250	S>N		No	ClinGen Ensembl
rs1562211513 CA364813056	251	L>F		No	ClinGen Ensembl
CA364813052 rs771270674	252	Q>*		No	ClinGen ExAC gnomAD
CA364813051 rs771270674	252	Q>E		No	ClinGen ExAC gnomAD
CA3884717 rs771270674	252	Q>K		No	ClinGen ExAC gnomAD
rs749451987 CA3884716	252	Q>P		No	ClinGen ExAC gnomAD
TCGA novel	253	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778010864 CA3884713	255	L>F		No	ClinGen ExAC gnomAD
rs1490822629 CA364813017	257	N>S		No	ClinGen gnomAD
rs769712548 CA3884712	258	P>S		No	ClinGen ExAC gnomAD
rs1203839514 CA364813005	259	K>T		No	ClinGen gnomAD
CA141264698 rs510737	261	V>G		No	ClinGen Ensembl
CA141264697 rs558229994	263	K>Q		No	ClinGen TOPMed
CA364812972 COSM1660717 rs1252525392	264	R>C	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3884710 rs781519334	264	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3884709 rs755419528	265	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs372171828 CA141264696	265	R>H		No	ClinGen ESP gnomAD
rs1405889567 CA364812961	266	G>A		No	ClinGen TOPMed gnomAD
rs1405889567 CA364812962	266	G>E		No	ClinGen TOPMed gnomAD
rs1582334002 CA364812965	266	G>R		No	ClinGen Ensembl
rs771983651 CA141264695	267	S>Y		No	ClinGen Ensembl
rs1347962268 CA364812950	268	Q>R		No	ClinGen TOPMed gnomAD
rs964222190 CA141264693	270	G>E		No	ClinGen Ensembl
CA141264694 rs990286103	270	G>R		No	ClinGen Ensembl
rs1562211376 CA364812881	278	K>I		No	ClinGen Ensembl
CA3884707 rs780331613	278	K>Q		No	ClinGen ExAC gnomAD
CA3884705 rs758060613	280	I>L		No	ClinGen ExAC gnomAD
rs1377218376 CA364812855	282	T>A		No	ClinGen gnomAD
rs1270501119 CA364812853	282	T>I		No	ClinGen TOPMed
CA3884700 rs750030557	284	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA3884697 rs780765140	288	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1252123629 CA364812807	289	K>R		No	ClinGen gnomAD
rs763929507 CA3884695	290	A>P		No	ClinGen ExAC gnomAD
CA364812799 rs1482741561	290	A>V		No	ClinGen gnomAD
TCGA novel	294	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1263324011 CA364812764	295	K>R		No	ClinGen gnomAD
TCGA novel	297	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201452528 CA3884680	298	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1489368084 CA364812726	299	W>*		No	ClinGen gnomAD
CA3884678 rs374604318 COSM3784720	302	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs149616588 CA141264686	302	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs976328147 CA141264685	303	T>A		No	ClinGen TOPMed
CA3884677 rs763590206	303	T>K		No	ClinGen ExAC
CA364812701 rs1401021387	304	E>K		No	ClinGen gnomAD
CA364812691 rs1582333284	305	K>*		No	ClinGen Ensembl
rs911385329 CA141264684	305	K>N		No	ClinGen TOPMed gnomAD
rs752630184 CA3884673	306	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA364812677 rs1184839109	307	N>S		No	ClinGen gnomAD
TCGA novel	308	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364812656 rs759372604	310	N>K		No	ClinGen ExAC gnomAD
rs773616693 CA3884669	311	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1286750096 CA364812641	313	K>Q		No	ClinGen gnomAD
CA364812624 rs560152490	315	H>D		No	ClinGen ExAC gnomAD
rs768093409 CA141264683	315	H>R		No	ClinGen Ensembl
rs560152490 CA3884668	315	H>Y		No	ClinGen ExAC gnomAD
CA364812616 rs1359336954	316	L>P		No	ClinGen gnomAD
rs150481412 CA3884667	319	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768734456 CA3884665	321	I>M		No	ClinGen ExAC
rs776587768 CA3884666	321	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1269878575 CA364812580	322	E>*		No	ClinGen gnomAD
TCGA novel	323	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3884664 rs369806559	323	V>I		No	ClinGen ESP ExAC gnomAD

No associated diseases with Q9NPZ5

No regional properties for Q9NPZ5

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9NPZ5

Functions

		Description
EC Number	2.4.1.135	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

2 GO annotations of cellular component

Name	Definition
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.

2 GO annotations of molecular function

Name	Definition
galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	Catalysis of the reaction: UDP-glucuronate + 3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosylprotein = UDP + 3-beta-D-glucuronosyl-3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosylprotein.
metal ion binding	Binding to a metal ion.

4 GO annotations of biological process

Name	Definition
carbohydrate biosynthetic process	The chemical reactions and pathways resulting in the formation of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y.
carbohydrate metabolic process	The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y.
chondroitin sulfate proteoglycan biosynthetic process	The chemical reactions and pathways resulting in the formation of chondroitin sulfate proteoglycan, any glycoprotein whose glycosaminoglycan units are chondroitin sulfate. Chondroitin sulfates are a group of 10-60 kDa glycosaminoglycans, widely distributed in cartilage and other mammalian connective tissues; the repeat units consist of beta-(1,4)-linked D-glucuronyl beta-(1,3)-N-acetyl-D-galactosamine sulfate.
protein glycosylation	A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5CAZ6	B3GAT2	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2	Canis lupus familiaris (Dog) (Canis familiaris)	PR
Q653F4	IRX14	Probable beta-1,4-xylosyltransferase IRX14	Oryza sativa subsp japonica (Rice)	PR
Q9ZQC6	IRX9	Beta-1,4-xylosyltransferase IRX9	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MKSALFTRFF	ILLPWILIVI	IMLDVDTRRP	VPPLTPRPYF	SPYAVGRGGA	RLPLRRGGPA
70	80	90	100	110	120
HGTQKRNQSR	PQPQPEPQLP	TIYAITPTYS	RPVQKAELTR	LANTFRQVAQ	LHWILVEDAA
130	140	150	160	170	180
ARSELVSRFL	ARAGLPSTHL	HVPTPRRYKR	PGLPRATEQR	NAGLAWLRQR	HQHQRAQPGV
190	200	210	220	230	240
LFFADDDNTY	SLELFQEMRT	TRKVSVWPVG	LVGGRRYERP	LVENGKVVGW	YTGWRADRPF
250	260	270	280	290	300
AIDMAGFAVS	LQVILSNPKA	VFKRRGSQPG	MQESDFLKQI	TTVEELEPKA	NNCTKVLVWH
310	320
TRTEKVNLAN	EPKYHLDTVK	IEV