POMT1

POMT1
Identifiers
Aliases	POMT1, LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT, protein O-mannosyltransferase 1
External IDs	MGI: 2138994 HomoloGene: 68548 GeneCards: POMT1
Gene ontology Molecular function • transferase activity, transferring glycosyl groups • dolichyl-phosphate-mannose-protein mannosyltransferase activity • transferase activity • mannosyltransferase activity • metal ion binding Cellular component • integral component of membrane • acrosomal vesicle • endoplasmic reticulum • dolichyl-phosphate-mannose-protein mannosyltransferase complex • sarcoplasmic reticulum • membrane • endoplasmic reticulum membrane Biological process • multicellular organism development • protein glycosylation • protein O-linked glycosylation • extracellular matrix organization • cell wall mannoprotein biosynthetic process • regulation of endoplasmic reticulum unfolded protein response • carbohydrate metabolic process • chain elongation of O-linked mannose residue • protein O-linked mannosylation • mannosylation Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	10585	99011
Ensembl	ENSG00000130714	ENSMUSG00000039254
UniProt	Q9Y6A1 Q5JT04	Q8R2R1
RefSeq (mRNA)	NM_001077365 NM_001077366 NM_001136113 NM_001136114 NM_007171	NM_145145
RefSeq (protein)	NP_001070833.1 NP_001070834.1 NP_001129585.1 NP_001129586.1 NP_009102.3	NP_660127.1
Location (UCSC)	Chr 9: 131.5 – 131.52 Mb	Chr 2: 32.24 – 32.26 Mb
PubMed search	[1]	[2]
Wikidata

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Protein O-mannosyl-transferase 1 is an enzyme that in humans is encoded by the POMT1 gene.^[3][4] 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]^[4]

It is associated with limb-girdle muscular dystrophy type LGMD2K.^[5]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. 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.
4. "Entrez Gene: POMT1 protein-O-mannosyltransferase 1".
5. 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, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG (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.
• Sabatelli P, Columbaro M, Mura I, Capanni C, Lattanzi G, Maraldi NM, Beltràn-Valero de Barnabè D, van Bokoven H, Squarzoni S, Merlini L (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. doi:10.1016/s0925-4439(03)00040-1. PMID 12757935.
• Manya H, Chiba A, Yoshida A, Wang X, Chiba Y, Jigami Y, Margolis RU, Endo T (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.
• Kim DS, Hayashi YK, Matsumoto H, Ogawa M, Noguchi S, Murakami N, Sakuta R, Mochizuki M, Michele DE, Campbell KP, Nonaka I, Nishino I (2004). "POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG". Neurology. 62 (6): 1009–11. doi:10.1212/01.wnl.0000115386.28769.65. PMID 15037715.
• 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, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA (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, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloğlu H (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, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T (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, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (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, Kawakita M, Endo T (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, Boukari S, Bizec CL, Fallet C, Delezoide AL, Moirot H, Laquerriere A, Encha-Razavi F, Durand G, Seta N (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