POMT1

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POMT1
Identifiers
Aliases POMT1, LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT, protein O-mannosyltransferase 1
External IDs MGI: 2138994 HomoloGene: 68548 GeneCards: POMT1
RNA expression pattern
PBB GE POMT1 218476 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001077365
NM_001077366
NM_001136113
NM_001136114
NM_007171

NM_145145

RefSeq (protein)

NP_660127

Location (UCSC) n/a Chr : 32.24 – 32.26 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Protein O-mannosyl-transferase 1 is an enzyme that in humans is encoded by the POMT1 gene.[4][5] It is a member of the dolichyl-phosphate-mannose-protein mannosyltransferases.

Function[edit]

O-mannosylation is an important protein modification in eukaryotes that is initiated by an evolutionarily conserved family of protein O-mannosyltransferases. POMT1 shares sequence similarity with protein O-mannosyltransferases of S. cerevisiae. In yeast, these enzymes are located in the endoplasmic reticulum (ER) and are required for cell integrity and cell wall rigidity. POMT1 also shows similarity to the Drosophila 'rotated abdomen' (rt) gene, which when mutated causes defects in myogenesis and muscle structure.[supplied by OMIM][5]

It is associated with limb-girdle muscular dystrophy type LGMD2K.[6]

References[edit]

  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039254 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ Jurado LA, Coloma A, Cruces J (Aug 1999). "Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1". Genomics. 58 (2): 171–80. doi:10.1006/geno.1999.5819. PMID 10366449. 
  5. ^ a b "Entrez Gene: POMT1 protein-O-mannosyltransferase 1". 
  6. ^ Online Mendelian Inheritance in Man (OMIM) 609308

Further reading[edit]

External links[edit]