ALG14 (ALG14 UDP-N-acetylglucosaminyltransferase subunit)

2014-08-01  

Identity

HGNC
LOCATION
1p21.3
LOCUSID
ALIAS
CMS15,IDDEBF,MEPCA
FUSION GENES

Other Information

Locus ID:

NCBI: 199857
MIM: 612866
HGNC: 28287
Ensembl: ENSG00000172339

Variants:

dbSNP: 199857
ClinVar: 199857
TCGA: ENSG00000172339
COSMIC: ALG14

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172339ENST00000370205Q96F25

Expression (GTEx)

0
1
2
3
4
5

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
234043342013Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.33
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
287333382017Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.3
302213452018Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.3

Citation

Dessen P

ALG14 (ALG14 UDP-N-acetylglucosaminyltransferase subunit)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54116/alg14-(alg14-udp-n-acetylglucosaminyltransferase-subunit)