POMT1 (protein O-mannosyltransferase 1)

2009-08-01  

Identity

HGNC
LOCATION
9q34.13
LOCUSID
ALIAS
LGMD2K,LGMDR11,MDDGA1,MDDGB1,MDDGC1,RT
FUSION GENES

Other Information

Locus ID:

NCBI: 10585
MIM: 607423
HGNC: 9202
Ensembl: ENSG00000130714

Variants:

dbSNP: 10585
ClinVar: 10585
TCGA: ENSG00000130714
COSMIC: POMT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130714ENST00000341012Q9Y6A1
ENSG00000130714ENST00000372220Q5JT02
ENSG00000130714ENST00000372228Q9Y6A1
ENSG00000130714ENST00000402686Q9Y6A1
ENSG00000130714ENST00000402686A0A140VKE0
ENSG00000130714ENST00000404875Q9Y6A1
ENSG00000130714ENST00000415075Q5JT04
ENSG00000130714ENST00000418774Q5JSZ6
ENSG00000130714ENST00000423007Q9Y6A1
ENSG00000130714ENST00000423007A0A140VKE0
ENSG00000130714ENST00000430619Q5JT05
ENSG00000130714ENST00000441334Q5JT03
ENSG00000130714ENST00000448212Q5JT07

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Other types of O-glycan biosynthesisKEGGko00514
Other types of O-glycan biosynthesisKEGGhsa00514
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
Mannose type O-glycan biosynthesisKEGGko00515
Mannose type O-glycan biosynthesisKEGGhsa00515

References

Pubmed IDYearTitleCitations
123690182002Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.156
146990492004Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.129
178782072007Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.125
192993102009Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.54
157928652005An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.35
166987972006Physical and functional association of human protein O-mannosyltransferases 1 and 2.32
168870262006Walker-Warburg syndrome.29
150377152004POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.27
155222022004Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation.20
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18

Citation

Dessen P

POMT1 (protein O-mannosyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-08-01

Online version: http://atlasgeneticsoncology.org/gene/50992/pomt1