POMT1

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Protein-O-mannosyltransferase 1
Identifiers
Symbols POMT1 ; LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT
External IDs OMIM607423 MGI2138994 HomoloGene68548 GeneCards: POMT1 Gene
EC number 2.4.1.109
RNA expression pattern
PBB GE POMT1 218476 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 10585 99011
Ensembl ENSG00000130714 ENSMUSG00000039254
UniProt Q9Y6A1 Q8R2R1
RefSeq (mRNA) NM_001077365 NM_145145
RefSeq (protein) NP_001070833 NP_660127
Location (UCSC) Chr 9:
134.38 – 134.4 Mb
Chr 2:
32.24 – 32.26 Mb
PubMed search [1] [2]

Protein O-mannosyl-transferase 1 is an enzyme that in humans is encoded by the POMT1 gene.[1][2] 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][2]

It is associated with limb-girdle muscular dystrophy type LGMD2K.[3]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: POMT1 protein-O-mannosyltransferase 1". 
  3. ^ Online 'Mendelian Inheritance in Man' (OMIM) 609308

Further reading[edit]

External links[edit]