AiPD: Autoinhibited Protein Database

Q9UM21

Gene name	MGAT4A
Protein name	Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A
Names	N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVa, GlcNAc-T IVa, GnT-IVa, N-acetylglucosaminyltransferase IVa, UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVa
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11320
EC number	2.4.1.145: Hexosyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

24-161 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

24-161 (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 Q9UM21

Entry ID	Method	Resolution	Chain	Position	Source
7XTL	X-ray	197 A	A/B	387-535	PDB
AF-Q9UM21-F1	Predicted				AlphaFoldDB

354 variants for Q9UM21

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA347956147 rs1176053966	2	R>K		No	ClinGen gnomAD
rs1446840551 CA347956129	3	L>P		No	ClinGen gnomAD
CA347956123 rs1285388093	4	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1795918 rs138660785	4	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1795917 rs756742061	5	N>H		No	ClinGen ExAC gnomAD
rs577461618 CA52666718	5	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1795916 rs577461618	5	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1795915 rs754354356	6	G>A		No	ClinGen ExAC gnomAD
CA347956081 rs1385057878	7	T>I		No	ClinGen gnomAD
rs79141144 CA1795914	8	V>L		No	ClinGen ExAC gnomAD
rs765110052 CA1795912	9	A>T		No	ClinGen ExAC gnomAD
rs759287983 CA1795911	9	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1795910 rs776865059	10	T>S		No	ClinGen ExAC gnomAD
rs771291407 CA1795909	12	L>V		No	ClinGen ExAC gnomAD
TCGA novel	13	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760769375 CA1795908	18	F>L		No	ClinGen ExAC gnomAD
TCGA novel	20	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1795907 rs773491929	23	W>C		No	ClinGen ExAC gnomAD
rs1416750834 CA347955904	23	W>R		No	ClinGen gnomAD
CA1795906 rs772691850	25	T>A		No	ClinGen ExAC gnomAD
rs1000786564 CA52666665	26	T>A		No	ClinGen TOPMed gnomAD
CA347955857 rs1219272341	26	T>I		No	ClinGen gnomAD
rs1280488636 CA347858706	34	L>P		No	ClinGen gnomAD
CA347858680 rs1177633948	36	A>T		No	ClinGen gnomAD
CA347858643 rs1248739877	38	Q>K		No	ClinGen gnomAD
rs141026005 CA1795878	39	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs151092759 CA1795877 COSM347248	39	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs747625351 CA1795876	40	E>A		No	ClinGen ExAC gnomAD
rs1240095022 CA347858607	40	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1795875 rs147768943	41	F>C		No	ClinGen ESP ExAC TOPMed
CA1795874 rs140376919	43	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs140376919 CA1795873	43	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA52661657 rs767192351	44	L>W		No	ClinGen TOPMed
rs1002074363 CA52661638	45	K>N		No	ClinGen Ensembl
CA52661645 rs149908406	45	K>R		No	ClinGen ESP TOPMed gnomAD
TCGA novel	46	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs367728285 CA1795872	46	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	47	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347858488 rs1235184090	47	R>H		No	ClinGen gnomAD
CA52661631 rs36004728	49	R>*		No	ClinGen TOPMed gnomAD
rs150771775 CA1795871 COSM1024276	49	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA52661618 rs911992830	52	E>Q		No	ClinGen TOPMed
rs1046219624 CA52661614	53	H>Y		No	ClinGen Ensembl
rs1391609238 CA347858308	57	Q>E		No	ClinGen gnomAD
rs750630601 CA1795870	58	R>C		No	ClinGen ExAC gnomAD
CA1795869 rs767871534	58	R>H		No	ClinGen ExAC gnomAD
rs35371803 CA52661605	60	S>F		No	ClinGen Ensembl
CA1795868 rs761890887	63	N>S		No	ClinGen ExAC gnomAD
CA52661602 rs949108715	64	T>A		No	ClinGen Ensembl
rs187651733 CA1795867	64	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs187651733 CA1795866	64	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347858118 rs775804663	66	V>L		No	ClinGen ExAC TOPMed gnomAD
rs775804663 CA1795864	66	V>M		No	ClinGen ExAC TOPMed gnomAD
rs936305250 CA52661544	68	Q>L		No	ClinGen gnomAD
rs770106129 COSM1494988 CA1795863	69	F>L	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA347858066 rs1158733415	69	F>Y		No	ClinGen gnomAD
CA347858052 rs1382337120	70	K>E		No	ClinGen gnomAD
rs371650303 CA52661529	71	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs202058781 CA1795861	71	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371650303 CA1795862 COSM1632180	71	R>S	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA347858020 rs1243717601	74	A>T		No	ClinGen gnomAD
CA52661483 rs943587153	80	K>E		No	ClinGen gnomAD
rs778344428 CA347857886	82	A>E		No	ClinGen ExAC TOPMed gnomAD
CA1795858 rs778344428	82	A>V		No	ClinGen ExAC TOPMed gnomAD
CA52661446 rs561253988	83	L>S		No	ClinGen Ensembl
rs749275884 CA1795856	84	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1462266841 CA347857785	85	K>T		No	ClinGen TOPMed
TCGA novel	87	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1165097904 CA347857264	88	D>E		No	ClinGen TOPMed gnomAD
rs748827551 CA1795833	88	D>G		No	ClinGen ExAC TOPMed gnomAD
CA1795831 rs199998782	90	T>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1194274905 CA347857249	91	L>V		No	ClinGen gnomAD
CA347857233 rs1470623107	93	L>R		No	ClinGen TOPMed
CA347857216 rs1490414636	96	E>K		No	ClinGen gnomAD
TCGA novel	101	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1795829 rs376916397	101	K>I		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1024275 rs757474576 CA1795828	102	S>F	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA347857121 rs757474576	102	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1795826 rs778081369	103	L>R		No	ClinGen ExAC gnomAD
CA1795824 rs141930246	105	V>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA347857081 CA1795825 rs758416564	105	V>L		No	ClinGen ExAC TOPMed gnomAD
CA347857044 rs1446272004	107	S>I		No	ClinGen TOPMed gnomAD
CA347857001 rs1389800242	109	Y>*		No	ClinGen TOPMed gnomAD
rs760093546 CA1795822	109	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA347857006 rs760093546	109	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs754207060 CA1795821	110	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA52659437 rs1011060150	113	P>L		No	ClinGen TOPMed
CA347856900 rs1235691232	116	L>S		No	ClinGen TOPMed
rs766691885 CA1795820	117	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1339271825 CA347856876	117	K>N		No	ClinGen TOPMed
CA347856875 rs1213230396	118	N>H		No	ClinGen TOPMed
CA347856840 rs1242233835	119	E>D		No	ClinGen gnomAD
CA1795819 rs761130464	120	G>R		No	ClinGen ExAC gnomAD
CA1795818 rs773823723	124	P>L		No	ClinGen ExAC gnomAD
CA52659432 rs750998069	124	P>T		No	ClinGen Ensembl
rs1436778228 CA347856752	125	A>V		No	ClinGen gnomAD
rs201036991 CA1795817	126	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201036991 CA347856747	126	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1199919111 CA347856726	127	Q>R		No	ClinGen gnomAD
rs762482428 CA1795816	130	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1795814 rs769836787	131	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	133	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1559165907 CA347856621	134	G>E		No	ClinGen Ensembl
rs1228915253 CA347853760	136	S>*		No	ClinGen gnomAD
rs1429831509 CA347853718	137	I>M		No	ClinGen gnomAD
COSM3740006 rs746776796 COSM3740007 CA1795788	137	I>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1795787 rs773118466	138	V>I		No	ClinGen ExAC TOPMed gnomAD
CA347853702 rs773118466	138	V>L		No	ClinGen ExAC TOPMed gnomAD
CA347853592 rs772258710	140	G>A		No	ClinGen ExAC TOPMed gnomAD
rs772258710 CA1795786	140	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	149	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA534935918 rs1164886653	151	Y>*		No	ClinGen gnomAD
rs748409629 CA1795785	151	Y>S		No	ClinGen ExAC gnomAD
rs755001000 CA1795783	153	I>T		No	ClinGen ExAC TOPMed gnomAD
rs779135521 CA1795784	153	I>V		No	ClinGen ExAC gnomAD
rs749396099 CA1795782	154	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA52652569 rs1005511871	158	S>F		No	ClinGen Ensembl
CA347852782 rs1264345146	160	I>F		No	ClinGen gnomAD
rs1264345146 CA347852788	160	I>V		No	ClinGen gnomAD
rs756707223 CA1795780	161	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1196217415 CA347852754	161	D>N		No	ClinGen gnomAD
CA1795779 rs750736331	162	N>H		No	ClinGen ExAC TOPMed gnomAD
CA52652563 rs923312521	162	N>S		No	ClinGen TOPMed gnomAD
CA347852594 rs1318423185	166	E>Q		No	ClinGen gnomAD
rs1402823701 CA347852534	168	K>N		No	ClinGen TOPMed gnomAD
CA1795773 rs753456874	171	C>R		No	ClinGen ExAC TOPMed gnomAD
CA347852492 rs753456874	171	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1049674298 CA52652555	173	I>V		No	ClinGen TOPMed
CA347852422 rs1317993313	174	V>I		No	ClinGen TOPMed
CA347852366 rs1169043783	176	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA347852345 rs1401102441	177	I>V		No	ClinGen gnomAD
rs1369000296 CA347850670	182	I>T		No	ClinGen TOPMed
rs1435139019 CA347850648	183	D>G		No	ClinGen gnomAD
TCGA novel	183	D>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1024274 rs1435139019 CA347850644	183	D>V	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs141841148 CA1795740	188	V>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA1795741 rs141841148	188	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1795742 rs753266254	188	V>I		No	ClinGen ExAC gnomAD
rs1458248514 CA347850546	189	V>A		No	ClinGen gnomAD
rs1201679084 CA347850508	191	N>D		No	ClinGen gnomAD
CA52650085 CA347850491 rs967919954	191	N>K		No	ClinGen TOPMed gnomAD
CA52650087 rs200067647	191	N>S		No	ClinGen TOPMed gnomAD
rs1559161421 CA347850438	194	K>R		No	ClinGen Ensembl
rs372632927 CA1795728	198	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA347849746 rs1183412661	198	K>N		No	ClinGen gnomAD
rs564051640 CA1795727	198	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1284938524 CA347849684	207	V>A		No	ClinGen gnomAD
CA1795726 rs544969687	208	I>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	210	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778249119 CA1795725	211	P>A		No	ClinGen ExAC gnomAD
TCGA novel	211	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754556908 CA1795724	213	S>G		No	ClinGen ExAC gnomAD
rs1260282485 CA347849561	214	Y>C		No	ClinGen TOPMed gnomAD
CA1795722 rs779594631	217	D>N		No	ClinGen ExAC gnomAD
TCGA novel	219	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347849439 rs1338888974	221	L>V		No	ClinGen gnomAD
CA347849421 rs1288420414	222	K>*		No	ClinGen TOPMed
CA347849348 rs1223744522	226	G>R		No	ClinGen TOPMed
rs767435178 CA1795719	228	S>C		No	ClinGen ExAC gnomAD
rs1362630647 CA347849298	229	K>R		No	ClinGen gnomAD
TCGA novel	232	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1457436620 CA347849255	232	V>I		No	ClinGen gnomAD
CA1795717 rs751328688	233	R>*		No	ClinGen ExAC gnomAD
CA347849249 rs751328688	233	R>G		No	ClinGen ExAC gnomAD
rs1299735151 CA347849243	233	R>K		No	ClinGen gnomAD
RCV000881862 CA1795700 rs61748145	236	T>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1795699 rs776429171	237	K>E		No	ClinGen ExAC gnomAD
rs757150960 CA1795698	238	Q>R		No	ClinGen ExAC gnomAD
rs867238267 CA52648829	243	C>G		No	ClinGen Ensembl
TCGA novel	243	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1795696 rs763956164	247	M>L		No	ClinGen ExAC gnomAD
CA347848805 rs1320431690	248	Y>C		No	ClinGen gnomAD
TCGA novel	250	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758147797 CA1795695	254	I>L		No	ClinGen ExAC TOPMed gnomAD
rs758147797 CA347848663	254	I>V		No	ClinGen ExAC TOPMed gnomAD
CA347848619 rs1431286302	256	Y>C		No	ClinGen TOPMed
TCGA novel	257	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347848611 rs1232811727	257	I>V		No	ClinGen gnomAD
CA1795694 rs752503889	258	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	262	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1309979077 CA347845745	265	V>A		No	ClinGen TOPMed gnomAD
CA1795678 rs777765615	265	V>I		No	ClinGen ExAC gnomAD
CA347845660 rs1285304237	267	Q>E		No	ClinGen TOPMed
rs968154676 CA52644402	267	Q>R		No	ClinGen TOPMed
CA1795677 rs758329122	268	N>S		No	ClinGen ExAC gnomAD
CA52644393 rs911322600	273	I>M		No	ClinGen TOPMed
CA347845421 rs1176662064	273	I>V		No	ClinGen gnomAD
TCGA novel	275	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	275	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1456540754 CA347845365	275	N>S		No	ClinGen gnomAD
CA52644385 rs551412635	276	F>L		No	ClinGen TOPMed gnomAD
CA52644381 rs947019481	277	A>V		No	ClinGen TOPMed
rs1575248121 CA347845305	278	L>F		No	ClinGen Ensembl
rs1414787246 CA347845292	279	Q>K		No	ClinGen gnomAD
rs533018469 CA52644378	281	S>P		No	ClinGen gnomAD
TCGA novel	281	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347845236 rs1418634328	282	S>C		No	ClinGen TOPMed gnomAD
CA347845234 rs1418634328	282	S>F		No	ClinGen TOPMed gnomAD
CA347845226 rs1179905149	283	E>G		No	ClinGen TOPMed gnomAD
CA347845232 rs1380380401	283	E>K		No	ClinGen gnomAD
CA1795675 rs778891454	286	M>T		No	ClinGen ExAC gnomAD
rs754853722 CA1795674	289	E>Q		No	ClinGen ExAC gnomAD
rs754065104 CA1795673	291	S>P		No	ClinGen ExAC gnomAD
rs1214722668 CA347844995	294	G>C		No	ClinGen gnomAD
TCGA novel	294	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1264123178 CA347844065	299	M>T		No	ClinGen TOPMed gnomAD
CA52643728 rs113921226	301	Q>R		No	ClinGen Ensembl
CA1795658 rs201339305	302	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147564347 CA1795656	303	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1228822126 CA347843966	303	P>T		No	ClinGen gnomAD
CA347843952 rs1399121144	304	D>N		No	ClinGen gnomAD
CA347843950 rs1399121144	304	D>Y		No	ClinGen gnomAD
rs753689064 CA1795654	305	L>P		No	ClinGen ExAC gnomAD
CA347843838 rs1433743674	309	V>I		No	ClinGen gnomAD
TCGA novel	310	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1256964537 CA347843794	310	E>G		No	ClinGen TOPMed
rs767528945 CA1795650	313	F>C		No	ClinGen ExAC gnomAD
rs761980888 CA1795649	313	F>L		No	ClinGen ExAC gnomAD
rs1406477959 CA347843688	313	F>V		No	ClinGen gnomAD
rs751958159 CA1795648	314	M>I		No	ClinGen ExAC gnomAD
rs200548395 CA1795647	316	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200548395 CA1795646	316	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA347843354 rs1196991611	321	I>V		No	ClinGen TOPMed
rs1300897338 CA347843279	323	W>G		No	ClinGen gnomAD
CA52643688 rs573734587	325	L>P		No	ClinGen Ensembl
CA52643685 rs142537374	327	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs142537374 CA1795644	327	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA347843149 rs1246213774	328	I>L		No	ClinGen gnomAD
rs760285473 CA1795643	332	K>N		No	ClinGen ExAC
CA1795642 rs772948957	334	C>*		No	ClinGen ExAC gnomAD
rs1437832662 CA347842903	335	N>K		No	ClinGen gnomAD
rs1382259414 CA347842902	336	P>S		No	ClinGen gnomAD
rs1179437361 CA534935193	337	E>G		No	ClinGen gnomAD
rs946716445 CA52643674	338	K>R		No	ClinGen TOPMed gnomAD
rs1475693552 CA347842706	340	A>G		No	ClinGen TOPMed
rs549572357 CA52642398	343	C>G		No	ClinGen 1000Genomes
CA52642396 rs200436921	344	D>G		No	ClinGen 1000Genomes
CA347840958 rs1301507623	346	Q>*		No	ClinGen gnomAD
CA347840844 rs1235920451	350	L>M		No	ClinGen TOPMed gnomAD
rs1373997035 CA347840825	351	R>*		No	ClinGen TOPMed gnomAD
rs759969460 CA1795621	351	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1446703589 CA347840772	353	R>C		No	ClinGen TOPMed gnomAD
CA52642389 rs905752978	353	R>H		No	ClinGen TOPMed
CA347840756 rs905752978	353	R>L		No	ClinGen TOPMed
TCGA novel	354	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772683274 CA1795620	357	S>C		No	ClinGen ExAC gnomAD
TCGA novel	357	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1177036416 CA347840600	362	V>I		No	ClinGen gnomAD
TCGA novel	365	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA52642385 rs143957896 COSM108609	375	L>P	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs767201370 CA1795619	376	T>M		No	ClinGen ExAC gnomAD
rs1352197764 CA347840170	381	M>I		No	ClinGen gnomAD
rs149727018 CA1795599	381	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1159294169 CA347840148 CA347840144	382	K>N		No	ClinGen TOPMed gnomAD
rs1559156582 CA347840134	383	P>A		No	ClinGen Ensembl
TCGA novel	383	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347840007 rs1243255400	387	K>T		No	ClinGen gnomAD
CA347839923 rs1294311487	390	V>I		No	ClinGen TOPMed gnomAD
CA52642324 rs1000203069	391	N>D		No	ClinGen TOPMed
rs1235484663 CA347839854	392	P>S		No	ClinGen gnomAD
rs1366917891 CA347839814	393	P>L		No	ClinGen gnomAD
rs762564480 CA1795597	394	A>V		No	ClinGen ExAC TOPMed gnomAD
CA1795595 rs769839527	395	E>A		No	ClinGen ExAC gnomAD
CA347839775 rs769839527	395	E>G		No	ClinGen ExAC gnomAD
rs918238109 CA52642314	396	V>I		No	ClinGen Ensembl
CA1795594 rs745639138	397	S>C		No	ClinGen ExAC gnomAD
CA1795593 rs776541405	401	K>R		No	ClinGen ExAC gnomAD
CA1795591 rs747192843	402	V>I		No	ClinGen ExAC gnomAD
rs1407771095 CA347839530	404	Q>*		No	ClinGen TOPMed
CA347839522 rs1330304117	404	Q>H		No	ClinGen TOPMed
rs1262941771 CA347839502	405	G>E		No	ClinGen gnomAD
rs1476704960 CA347839469	406	H>R		No	ClinGen TOPMed gnomAD
rs1020293434 CA347839442	407	T>K		No	ClinGen TOPMed gnomAD
CA52642304 rs1020293434	407	T>M		No	ClinGen TOPMed gnomAD
CA1795586 rs140000007	413	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1795588 rs779281323	413	M>L		No	ClinGen ExAC TOPMed gnomAD
CA1795587 rs779281323	413	M>V		No	ClinGen ExAC TOPMed gnomAD
CA1795584 rs372316319	414	G>A		No	ClinGen ESP ExAC gnomAD
CA1795585 rs200044659	414	G>R		No	ClinGen ExAC TOPMed gnomAD
CA347839210 rs756575152	415	E>D		No	ClinGen ExAC TOPMed gnomAD
CA347839000 rs1277880511	423	P>L		No	ClinGen gnomAD
rs1328364559 CA347838923	427	D>N		No	ClinGen gnomAD
CA347838874 rs762482751	429	I>F		No	ClinGen ExAC TOPMed gnomAD
CA1795580 rs762482751	429	I>V		No	ClinGen ExAC TOPMed gnomAD
rs752312209 CA1795579	434	D>N		No	ClinGen ExAC gnomAD
rs765066664 CA1795578	435	K>E		No	ClinGen ExAC TOPMed gnomAD
CA1795577 rs141888267	436	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA52642259 rs979917775	438	N>K		No	ClinGen Ensembl
CA1795573 rs191765706	438	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1795574 rs191765706	438	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1795552 rs774468103	442	Y>F		No	ClinGen ExAC gnomAD
rs768728500 CA1795551	444	F>L		No	ClinGen ExAC gnomAD
rs769148358 CA347837330	446	S>R		No	ClinGen ExAC TOPMed gnomAD
rs776070010 CA1795549	450	E>Q		No	ClinGen ExAC gnomAD
rs770487777 CA1795548	451	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1280046147 CA347837133	454	D>N		No	ClinGen gnomAD
CA347837097 rs1230003328	455	I>T		No	ClinGen TOPMed
CA1795545 rs757731668	459	T>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	460	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	462	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778444558 CA1795543	464	L>F		No	ClinGen ExAC TOPMed gnomAD
rs142165812 CA1795542	466	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347836477 rs1449825960	468	S>N		No	ClinGen gnomAD
CA347836460 rs370793620	468	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs755652318 CA1795520	469	E>D		No	ClinGen ExAC gnomAD
rs1213641667 CA347836347	473	I>V		No	ClinGen gnomAD
CA1795516 rs751374501	474	S>N		No	ClinGen ExAC TOPMed gnomAD
rs764361186 CA1795515	474	S>R		No	ClinGen ExAC TOPMed gnomAD
rs751374501 CA1795517	474	S>T		No	ClinGen ExAC TOPMed gnomAD
CA1795514 rs763128241	477	T>I		No	ClinGen ExAC gnomAD
rs1226982790 CA347836301	478	K>E		No	ClinGen Ensembl
rs775889928 CA1795513	481	R>*		No	ClinGen ExAC gnomAD
CA347836276 rs182193794	481	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1795512 rs182193794 COSM722729 COSM1647373	481	R>Q	lung Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1158053246 CA347836260	484	D>N		No	ClinGen TOPMed
TCGA novel	484	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759705977 CA1795511	485	G>D		No	ClinGen ExAC
rs1325648245 CA347836238	487	F>L		No	ClinGen gnomAD
CA1795510 rs777212121	489	I>L		No	ClinGen ExAC gnomAD
CA1795509 rs771408841	489	I>T		No	ClinGen ExAC gnomAD
rs1436133010 CA347835567	494	N>D		No	ClinGen TOPMed
rs1480828020 CA347835554	496	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	497	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347835523 rs1221351814	500	M>I		No	ClinGen TOPMed
rs571187182 CA1795492	500	M>L		No	ClinGen ExAC gnomAD
CA1795491 rs761124671	500	M>R		No	ClinGen ExAC TOPMed gnomAD
rs571187182 CA52637292	500	M>V		No	ClinGen ExAC gnomAD
CA1795489 rs772273127	502	D>A		No	ClinGen ExAC TOPMed gnomAD
rs1477343273 CA347835512	502	D>E		No	ClinGen gnomAD
CA1795490 rs773797545	502	D>H		No	ClinGen ExAC gnomAD
rs772273127 CA347835513	502	D>V		No	ClinGen ExAC TOPMed gnomAD
CA1795488 rs762174936	503	P>Q		No	ClinGen ExAC gnomAD
rs1391240794 CA347835483	507	P>T		No	ClinGen gnomAD
CA1795487 rs146695919	508	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347835453 rs1200339544	511	F>L		No	ClinGen gnomAD
rs146487281 CA1795486	512	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA347835429 rs1158281721	516	I>F		No	ClinGen TOPMed gnomAD
CA347835427 rs1158281721	516	I>V		No	ClinGen TOPMed gnomAD
CA347835421 rs1419535360	517	Q>E		No	ClinGen gnomAD
CA347835403 rs1250840734	519	S>Y		No	ClinGen TOPMed
rs746873181 CA1795482	523	A>D		No	ClinGen ExAC gnomAD
rs1485158633 CA347835356	526	N>S		No	ClinGen gnomAD
CA347835338 rs1191603051	527	E>G		No	ClinGen TOPMed
CA1795480 rs758200121	527	E>K		No	ClinGen ExAC gnomAD
CA1795469 rs764846307	528	I>V		No	ClinGen ExAC gnomAD
rs1474747572 CA347835244	529	H>R		No	ClinGen gnomAD
CA347835210 rs1418200587	531	K>*		No	ClinGen gnomAD
rs112423586 CA52637212	532	K>E		No	ClinGen Ensembl
TCGA novel	533	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	533	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866383865 CA52637208	533	A>S		No	ClinGen Ensembl
rs13427 CA52637189	535	N>D		No	ClinGen Ensembl
CA1795467 rs576273179	535	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1189623440 CA347835164	535	N>S		No	ClinGen TOPMed gnomAD

No associated diseases with Q9UM21

1 regional properties for Q9UM21

Type	Name	Position	InterPro Accession
domain	Major facilitator superfamily domain	42 - 445	IPR020846

Functions

		Description
EC Number	2.4.1.145	Hexosyltransferases
Subcellular Localization	[Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A]: Golgi apparatus 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	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum lumen	The volume enclosed by the membranes of the endoplasmic reticulum.
endoplasmic reticulum-Golgi intermediate compartment	A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi and Golgi-to-ER transport.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
Golgi stack	The set of thin, flattened membrane-bounded compartments, called cisternae, that form the central portion of the Golgi complex. The stack usually comprises cis, medial, and trans cisternae; the cis- and trans-Golgi networks are not considered part of the stack.
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.
peroxisome	A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism.

5 GO annotations of molecular function

Name	Definition
acetylglucosaminyltransferase activity	Catalysis of the transfer of an N-acetylglucosaminyl residue from UDP-N-acetyl-glucosamine to a sugar.
alanine-glyoxylate transaminase activity	Catalysis of the reaction: L-alanine + glyoxylate = pyruvate + glycine.
alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	Catalysis of the reaction: UDP-N-acetyl-D-glucosamine + (N-acetyl-beta-D-glucosaminyl-1,2)-alpha-D-mannosyl-1,3-(beta-N-acetyl-D-glucosaminyl-1,2-alpha-D-mannosyl-1,6)-beta-D-mannosyl-R = UDP + N-acetyl-beta-D-glucosaminyl-1,4-(N-acetyl-D-glucosaminyl-1,2)-alpha-D-mannosyl-1,3-(beta-N-acetyl-D-glucosaminyl-1,2-alpha-D-mannosyl-1,6)-beta-D-mannosyl-R.
metal ion binding	Binding to a metal ion.
protein homodimerization activity	Binding to an identical protein to form a homodimer.

5 GO annotations of biological process

Name	Definition
glyoxylate metabolic process	The chemical reactions and pathways involving glyoxylate, the anion of glyoxylic acid, HOC-COOH.
N-glycan processing	The conversion of N-linked glycan (N = nitrogen) structures from the initially transferred oligosaccharide to a mature form, by the actions of glycosidases and glycosyltransferases. The early processing steps are conserved and play roles in glycoprotein folding and trafficking.
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.
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.
viral protein processing	Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a viral protein.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O77836	MGAT4A	Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	Bos taurus (Bovine)	PR
Q5M854	Mgat4a	Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MRLRNGTVAT	ALAFITSFLT	LSWYTTWQNG	KEKLIAYQRE	FLALKERLRI	AEHRISQRSS
70	80	90	100	110	120
ELNTIVQQFK	RVGAETNGSK	DALNKFSDNT	LKLLKELTSK	KSLQVPSIYY	HLPHLLKNEG
130	140	150	160	170	180
SLQPAVQIGN	GRTGVSIVMG	IPTVKREVKS	YLIETLHSLI	DNLYPEEKLD	CVIVVFIGET
190	200	210	220	230	240
DIDYVHGVVA	NLEKEFSKEI	SSGLVEVISP	PESYYPDLTN	LKETFGDSKE	RVRWRTKQNL
250	260	270	280	290	300
DYCFLMMYAQ	EKGIYYIQLE	DDIIVKQNYF	NTIKNFALQL	SSEEWMILEF	SQLGFIGKMF
310	320	330	340	350	360
QAPDLTLIVE	FIFMFYKEKP	IDWLLDHILW	VKVCNPEKDA	KHCDRQKANL	RIRFRPSLFQ
370	380	390	400	410	420
HVGLHSSLSG	KIQKLTDKDY	MKPLLLKIHV	NPPAEVSTSL	KVYQGHTLEK	TYMGEDFFWA
430	440	450	460	470	480
ITPIAGDYIL	FKFDKPVNVE	SYLFHSGNQE	HPGDILLNTT	VEVLPFKSEG	LEISKETKDK
490	500	510	520	530
RLEDGYFRIG	KFENGVAEGM	VDPSLNPISA	FRLSVIQNSA	VWAILNEIHI	KKATN