ALG9 (ALG9 alpha-1,2-mannosyltransferase)

2014-11-01  

Identity

HGNC
LOCATION
11q23.1
LOCUSID
ALIAS
CDG1L,DIBD1,GIKANIS,LOH11CR1J
FUSION GENES

Other Information

Locus ID:

NCBI: 79796
MIM: 606941
HGNC: 15672
Ensembl: ENSG00000086848

Variants:

dbSNP: 79796
ClinVar: 79796
TCGA: ENSG00000086848
COSMIC: ALG9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000086848ENST00000398006Q9H6U8
ENSG00000086848ENST00000524671H0YEX8
ENSG00000086848ENST00000525910H0YF48
ENSG00000086848ENST00000531154Q9H6U8
ENSG00000086848ENST00000532425H0YCW6
ENSG00000086848ENST00000612489A0A087WTZ3
ENSG00000086848ENST00000613181A0A087WVC0
ENSG00000086848ENST00000614444Q9H6U8
ENSG00000086848ENST00000616540Q9H6U8
ENSG00000086848ENST00000618252A0A087WZY8
ENSG00000086848ENST00000619129A0A087WX16

Expression (GTEx)

0
5
10
15

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
267332892016Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis.14
259666382016A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.8
194515482009Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.7
313956172019ALG9 Mutation Carriers Develop Kidney and Liver Cysts.4
168595512006Common variations in ALG9 are not associated with bipolar I disorder: a family-based study.2

Citation

Dessen P

ALG9 (ALG9 alpha-1,2-mannosyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60256/alg9