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ALG13 UDP-N-acetylglucosaminyltransferase subunit

Summary

Gene Symbol

ALG13

Aliases

CDG1S
FLJ23018
MDS031
N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase
TDRD13
YGL047W
tudor domain containing 13

Organism

Homo sapiens (human)

External Links

NCBI Gene

79868

GGDB ID

gg205

HGNC

30881

mRNA

NM_018466

map

Xq23

Protein

NP_060936

OMIM

300776

KEGG Gene ID

hsa:79868

PubChem

79868

Alliance of Genome Resources

HGNC:30881

Annotation

Keyword

Alternative splicing
Congenital disorder of glycosylation
Disease variant
Endoplasmic reticulum
Epilepsy
Glycosyltransferase
Membrane
Multifunctional enzyme
Proteomics identification
Reference proteome
Thiol protease
Ubl conjugation pathway

Proteins

Displaying **all 3** entries
UniProt	Protein Name
A0A087WT15
Q9NP73	Asparagine-linked glycosylation 13 homolog Glycosyltransferase 28 domain-containing protein 1
A0A087WX43

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 3** entries
GO Term	Evidence Code	PMID
protein N-linked glycosylation	IMP	22492991
proteolysis	IEA
dolichol-linked oligosaccharide biosynthetic process	IMP	22492991

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

biosynthetic process [inference]

organic substance biosynthetic process [inference]

carbohydrate derivative biosynthetic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

cellular metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

protein metabolic process [inference]

proteolysis

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

small molecule metabolic process [inference]

alcohol metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein N-linked glycosylation

organic substance metabolic process [inference]

lipid metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

macromolecule metabolic process [inference]

protein metabolic process [inference]

proteolysis

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein N-linked glycosylation

carbohydrate derivative metabolic process [inference]

carbohydrate derivative biosynthetic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis

protein modification process [inference]

protein glycosylation [inference]

protein N-linked glycosylation

organic substance biosynthetic process [inference]

carbohydrate derivative biosynthetic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process [inference]

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

Displaying **all 3** entries
GO Term	Evidence Code	PMID
UDP-N-acetylglucosamine transferase complex
endoplasmic reticulum
endoplasmic reticulum membrane	TAS

GO Hierarchy

cellular component

protein-containing complex [inference]

membrane protein complex [inference]

UDP-N-acetylglucosamine transferase complex

endoplasmic reticulum protein-containing complex [inference]

UDP-N-acetylglucosamine transferase complex

catalytic complex [inference]

UDP-N-acetylglucosamine transferase complex

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

Displaying **all 3** entries
GO Term	Evidence Code	PMID
N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	IMP	22492991
cysteine-type deubiquitinase activity	IEA
RNA binding

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

acetylglucosaminyltransferase activity [inference]

N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity

hexosyltransferase activity [inference]

acetylglucosaminyltransferase activity [inference]

N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity

hydrolase activity [inference]

peptidase activity [inference]

cysteine-type peptidase activity [inference]

cysteine-type deubiquitinase activity

ubiquitin-like protein peptidase activity [inference]

deubiquitinase activity [inference]

cysteine-type deubiquitinase activity

catalytic activity, acting on a protein [inference]

peptidase activity [inference]

cysteine-type peptidase activity [inference]

cysteine-type deubiquitinase activity

ubiquitin-like protein peptidase activity [inference]

deubiquitinase activity [inference]

cysteine-type deubiquitinase activity

binding [inference]

organic cyclic compound binding [inference]

nucleic acid binding [inference]

RNA binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000101901

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

GlycoGene Database (GGDB)

GGDB ID

gg205

Gene Symbol

ALG13

Reactions

Displaying 1 entry
Donor	Acceptor	Product	Reference
UDP-GlcNAc	G68544GH	G05026ZL

Displaying 1 entry
Donor	Acceptor	Product	Reference
UDP-GlcNAc	G68544GH	G05026ZL

Orthologous Gene

Displaying **all 5** entries
Species	Protein	mRNA
Saccharomyces cerevisiae	CAA96749	Z72569
Rattus norvegicus	NP_001013973	NM_001013951
Drosophila melanogaster	NP_651673	NM_143416
Caenorhabditis elegans	NP_506467	NM_074066
Mus musculus	NP_796104	NM_177130

KEGG BRITE Database

Orthology

K07432

Name

beta-1,4-N-acetylglucosaminyltransferase [EC:2.4.1.141]

References

16100110

Reactions

Displaying 1 entry
KEGG Reaction	Enzyme	Acceptor	Product
R05970	2.4.1.141	G68544GH	G05026ZL

Rhea

UDP-N-acetyl-α-D-glucosamine

H⁺ + UDP

Enzyme

2.4.1.141

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of 37 in total

1

2

3

4

Next ›

Last »
DO ID	Disease Name	Source
DOID:0050336	hypophosphatemia	DisGeNET
DOID:0050562	West syndrome	DisGeNET
DOID:0050570	congenital disorder of glycosylation type I	DisGeNET
DOID:0050776	non-syndromic X-linked intellectual disability	DisGeNET
DOID:0060810	syndromic X-linked intellectual disability type 10	DisGeNET
DOID:0060823	syndromic X-linked intellectual disability 94	DisGeNET
DOID:0080470	developmental and epileptic encephalopathy 36	Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources
DOID:1059	intellectual disability	DisGeNET
DOID:10907	microcephaly	DisGeNET
DOID:1094	attention deficit hyperactivity disorder	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 48 in total

1

2

3

4

5

Next ›

Last »
HPO ID	HPO Term
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000280	Coarse facial features
HP:0000308	Microretrognathia
HP:0000316	Hypertelorism
HP:0000331	Short chin
HP:0000343	Long philtrum
HP:0000369	Low-set ears
HP:0000463	Anteverted nares

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:324422	developmental and epileptic encephalopathy, 36
OMIM:300884	developmental and epileptic encephalopathy, 36

PubChem Disease

MedGen Diseases

Developmental and epileptic encephalopathy, 36

OMIM Phenotypes

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36; DEE36

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **1 - 10** of 46 in total

1

2

3

4

5

Next ›

Last »
Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	179890	WB:WBGene00011193
Drosophila melanogaster	31789	FB:FBgn0003023
Drosophila melanogaster	33671	FB:FBgn0031622
Ciona intestinalis	100181785		CIOIN03964
Danio rerio	557181	ZFIN:ZDB-GENE-060307-1
Astyanax mexicanus	103025120		ASTMX11823
Ictalurus punctatus	100528959		ICTPU33966
Electrophorus electricus	113579245		ELEEL24641
Salmo salar	100196090		SALSA44225
Salmo trutta	115205234		SALTR112718

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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GlyCosmos Portal v4.0.0

Last updated: August 19, 2024