ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit)

2014-11-01  

Identity

HGNC
LOCATION
Xq23
LOCUSID
ALIAS
CDG1S,CXorf45,DEE36,EIEE36,GLT28D1,MDS031,TDRD13,YGL047W
FUSION GENES

Other Information

Locus ID:

NCBI: 79868
MIM: 300776
HGNC: 30881
Ensembl: ENSG00000101901

Variants:

dbSNP: 79868
ClinVar: 79868
TCGA: ENSG00000101901
COSMIC: ALG13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101901ENST00000251943Q9NP73
ENSG00000101901ENST00000371979Q9NP73
ENSG00000101901ENST00000394780Q9NP73
ENSG00000101901ENST00000436609Q9NP73
ENSG00000101901ENST00000468657A0A087WX01
ENSG00000101901ENST00000470971A0A087WVG5
ENSG00000101901ENST00000471924A0A096LPK3
ENSG00000101901ENST00000473389A0A087WX43
ENSG00000101901ENST00000474121A0A096LP54
ENSG00000101901ENST00000482374A0A087WX01
ENSG00000101901ENST00000482742A0A087WT15
ENSG00000101901ENST00000486353D6RE84
ENSG00000101901ENST00000487141A0A087WTT9
ENSG00000101901ENST00000489033A0A087WX01
ENSG00000101901ENST00000492038A0A087WVG5
ENSG00000101901ENST00000495283A0A087WX01
ENSG00000101901ENST00000610588Q9NP73
ENSG00000101901ENST00000621367Q9NP73
ENSG00000101901ENST00000622986A0A096LNJ4
ENSG00000101901ENST00000622997A0A087WX01
ENSG00000101901ENST00000623144A0A087WX01
ENSG00000101901ENST00000623148A0A096LPK3
ENSG00000101901ENST00000623189A0A087WT15
ENSG00000101901ENST00000623255A0A096LP10
ENSG00000101901ENST00000623310A0A096LNJ5
ENSG00000101901ENST00000623622A0A096LPI3
ENSG00000101901ENST00000624161A0A087WVG5
ENSG00000101901ENST00000624881A0A096LNL2
ENSG00000101901ENST00000636363A0A1B0GVW6

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
N-Glycan biosynthesisKEGGko00510
N-Glycan biosynthesisKEGGhsa00510
Metabolic pathwaysKEGGhsa01100
N-glycan precursor biosynthesisKEGGhsa_M00055
N-glycan precursor biosynthesisKEGGM00055
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
161001102005Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.32
245017622014X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.5
287787872017Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.3
281787022017Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation.2
314447332019X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls.0

Citation

Dessen P

ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60250/alg13