POMT1
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| Protein-O-mannosyltransferase 1 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | POMT1; LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT | ||||||||||||
| External IDs | OMIM: 607423 MGI: 2138994 HomoloGene: 68548 GeneCards: POMT1 Gene | ||||||||||||
| EC number | 2.4.1.109 | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| 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 | |||||||||||||
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
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
- ↑ 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.
- ↑ 2.0 2.1 "Entrez Gene: POMT1 protein-O-mannosyltransferase 1".
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 609308
Further reading
- Grewal PK, Hewitt JE (2004). "Glycosylation defects: a new mechanism for muscular dystrophy?". Hum. Mol. Genet. 12 Spec No 2 (90002): R259–64. doi:10.1093/hmg/ddg272. PMID 12925572.
- Beltrán-Valero de Bernabé D (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. doi:10.1086/342975. PMC 419999. 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. PMC 139241. 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. PMC 327176. 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. PMC 528928. 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. PMC 1356129. 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.
External links
- GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview
- GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview
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