ALG1 (ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase)

2014-11-01  

Identity

HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
CDG1K,HMAT1,HMT-1,HMT1,MT-1,Mat-1,hMat-1
FUSION GENES

Other Information

Locus ID:

NCBI: 56052
MIM: 605907
HGNC: 18294
Ensembl: ENSG00000033011

Variants:

dbSNP: 56052
ClinVar: 56052
TCGA: ENSG00000033011
COSMIC: ALG1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000033011ENST00000262374Q9BT22
ENSG00000033011ENST00000544428Q9BT22
ENSG00000033011ENST00000586840K7EPU3
ENSG00000033011ENST00000588623Q9BT22
ENSG00000033011ENST00000591783K7EID2
ENSG00000033011ENST00000591822K7EQK1

Expression (GTEx)

0
5
10
15
20
25
30
35

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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
206796652010Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.11
229660352012Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.9
241572612014ALG1-CDG: a new case with early fatal outcome.7
269313822016ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.7
293094332018Association studies of WD repeat domain 3 and chitobiosyldiphosphodolichol beta-mannosyltransferase genes with schizophrenia in a Japanese population.0

Citation

Dessen P

ALG1 (ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60246/alg1-(alg1-chitobiosyldiphosphodolichol-beta-mannosyltransferase)