ALG3 (ALG3 alpha-1,3- mannosyltransferase)

2018-11-01  

Identity

HGNC
LOCATION
3q27.1
LOCUSID
ALIAS
CDG1D,CDGS4,CDGS6,D16Ertd36e,NOT56L,Not56,not
FUSION GENES

Other Information

Locus ID:

NCBI: 10195
MIM: 608750
HGNC: 23056
Ensembl: ENSG00000214160

Variants:

dbSNP: 10195
ClinVar: 10195
TCGA: ENSG00000214160
COSMIC: ALG3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000214160ENST00000397676Q92685
ENSG00000214160ENST00000411922F8WE30
ENSG00000214160ENST00000414845H7BZZ2
ENSG00000214160ENST00000423996F8WF93
ENSG00000214160ENST00000445626Q92685
ENSG00000214160ENST00000446569H7C0X4
ENSG00000214160ENST00000455059C9J7S5

Expression (GTEx)

0
10
20
30
40
50
60
70

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
160064362005Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins.6
237910102013ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings.3
297998322018ALG3 Is Activated by Heat Shock Factor 2 and Promotes Breast Cancer Growth.2
308058922019Combined expression and prognostic significance of PPFIA1 and ALG3 in head and neck squamous cell carcinoma.1
295479012018Molecular partners of hNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, suggest its involvement in distinct cellular processes relevant to congenital disorders of glycosylation, cancer, neurodegeneration and a variety of further pathologies.0
310670092019Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.0

Citation

Dessen P

ALG3 (ALG3 alpha-1,3- mannosyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57758/alg3