POMT1

From Wikipedia, the free encyclopedia

Protein-O-mannosyltransferase 1

Identifiers

POMT1; FLJ37239; RT

External IDs

OMIM: 607423 MGI: 2138994 HomoloGene: 68548

Gene ontology
Molecular Function:	• mannosyltransferase activity • magnesium ion binding • dolichyl-phosphate-mannose-protein mannosyltransferase activity • transferase activity • transferase activity, transferring glycosyl groups
Cellular Component:	• endoplasmic reticulum • endoplasmic reticulum membrane • membrane • integral to membrane
Biological Process:	• carbohydrate metabolic process • protein amino acid O-linked glycosylation • multicellular organismal development • extracellular matrix organization and biogenesis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001077365 (mRNA)
NP_001070833 (protein)

NM_145145 (mRNA)
NP_660127 (protein)

Location

Chr 9: 133.37 - 133.39 Mb

Chr 2: 32.06 - 32.08 Mb

Pubmed search

[1]

[2]

Protein-O-mannosyltransferase 1, also known as POMT1, is a human gene.^[1] It is a member of the dolichyl-phosphate-mannose-protein mannosyltransferases.

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]^[1]

[edit] References

^ ^a ^b Entrez Gene: POMT1 protein-O-mannosyltransferase 1.

[edit] Further reading

Grewal PK, Hewitt JE (2004). "Glycosylation defects: a new mechanism for muscular dystrophy?". Hum. Mol. Genet. 12 Spec No 2: R259–64. doi:10.1093/hmg/ddg272. PMID 12925572.
Jurado LA, Coloma A, Cruces J (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.
Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, et al. (2003). "Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.". Am. J. Hum. Genet. 71 (5): 1033–43. PMID 12369018.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Sabatelli P, Columbaro M, Mura I, et al. (2003). "Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation.". Biochim. Biophys. Acta 1638 (1): 57–62. PMID 12757935.
Manya H, Chiba A, Yoshida A, et al. (2004). "Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.". Proc. Natl. Acad. Sci. U.S.A. 101 (2): 500–5. doi:10.1073/pnas.0307228101. PMID 14699049.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Kim DS, Hayashi YK, Matsumoto H, et al. (2004). "POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.". Neurology 62 (6): 1009–11. PMID 15037715.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Akasaka-Manya K, Manya H, Endo T (2005). "Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation.". Biochem. Biophys. Res. Commun. 325 (1): 75–9. doi:10.1016/j.bbrc.2004.10.001. PMID 15522202.
Currier SC, Lee CK, Chang BS, et al. (2005). "Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.". Am. J. Med. Genet. A 133 (1): 53–7. doi:10.1002/ajmg.a.30487. PMID 15637732.
Balci B, Uyanik G, Dincer P, et al. (2005). "An 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.". Neuromuscul. Disord. 15 (4): 271–5. doi:10.1016/j.nmd.2005.01.013. PMID 15792865.
Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.
Akasaka-Manya K, Manya H, Nakajima A, et al. (2006). "Physical and functional association of human protein O-mannosyltransferases 1 and 2.". J. Biol. Chem. 281 (28): 19339–45. doi:10.1074/jbc.M601091200. PMID 16698797.
Bouchet C, Vuillaumier-Barrot S, Gonzales M, et al. (2007). "Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families.". Mol. Genet. Metab. 90 (1): 93–6. doi:10.1016/j.ymgme.2006.09.005. PMID 17079174.