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POMT1

From Wikipedia, the free encyclopedia
POMT1
Identifiers
AliasesPOMT1, LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT, protein O-mannosyltransferase 1
External IDsOMIM: 607423; MGI: 2138994; HomoloGene: 68548; GeneCards: POMT1; OMA:POMT1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001077365
NM_001077366
NM_001136113
NM_001136114
NM_007171

NM_145145

RefSeq (protein)

NP_660127

Location (UCSC)n/aChr 2: 32.24 – 32.26 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/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

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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]

In the retina it is known that O-mannosylation of α-DG carried out by POMT1 is crucial for the establishment of proper synapses at the outer plexiform layer and the transmission of visual information from cones and rods to their postsynaptic neurons, i.e. bipolar and horizontal cells.[7] Lack of POMT1 expression results in a good number of impairments in photoreceptors that have been documented at the proteomic, morphological and physiological levels.[7][8]

References

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  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039254Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ Jurado LA, Coloma A, Cruces J (June 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
  7. ^ a b Rubio-Fernández M, Uribe ML, Vicente-Tejedor J, Germain F, Susín-Lara C, Quereda C, et al. (June 2018). "Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy". Scientific Reports. 8 (1): 8543. Bibcode:2018NatSR...8.8543R. doi:10.1038/s41598-018-26855-x. PMC 5986861. PMID 29867208.
  8. ^ Uribe ML, Martín-Nieto J, Quereda C, Rubio-Fernández M, Cruces J, Janssen GM, et al. (June 2021). "Retinal Proteomics of a Mouse Model of Dystroglycanopathies Reveals Molecular Alterations in Photoreceptors". Journal of Proteome Research. 20 (6): 3268–3277. doi:10.1021/acs.jproteome.1c00126. PMC 8280732. PMID 34027671.

Further reading

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