POMT1

Protein-O-mannosyltransferase 1
Identifiers
Symbols	POMT1 ; FLJ37239; RT
External IDs	Template:OMIM5 Template:MGI HomoloGene: 68548
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE POMT1 218476 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Protein-O-mannosyltransferase 1, also known as POMT1, is a human gene. 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]

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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)