POMT1

Protein-O-mannosyltransferase 1, also known as POMT1, is a human gene.cite web | title = Entrez Gene: POMT1 protein-O-mannosyltransferase 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10585| accessdate = ] It is a member of the dolichyl-phosphate-mannose-protein mannosyltransferases.

PBB_Summary
section_title =
summary_text = 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] cite web | title = Entrez Gene: POMT1 protein-O-mannosyltransferase 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10585| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Grewal PK, Hewitt JE |title=Glycosylation defects: a new mechanism for muscular dystrophy? |journal=Hum. Mol. Genet. |volume=12 Spec No 2 |issue= |pages= R259–64 |year= 2004 |pmid= 12925572 |doi= 10.1093/hmg/ddg272
*cite journal | author=Jurado LA, Coloma A, Cruces J |title=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. |journal=Genomics |volume=58 |issue= 2 |pages= 171–80 |year= 1999 |pmid= 10366449 |doi= 10.1006/geno.1999.5819
*cite journal | author=Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, "et al." |title=Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. |journal=Am. J. Hum. Genet. |volume=71 |issue= 5 |pages= 1033–43 |year= 2003 |pmid= 12369018 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Sabatelli P, Columbaro M, Mura I, "et al." |title=Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation. |journal=Biochim. Biophys. Acta |volume=1638 |issue= 1 |pages= 57–62 |year= 2003 |pmid= 12757935 |doi=
*cite journal | author=Manya H, Chiba A, Yoshida A, "et al." |title=Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 2 |pages= 500–5 |year= 2004 |pmid= 14699049 |doi= 10.1073/pnas.0307228101
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Kim DS, Hayashi YK, Matsumoto H, "et al." |title=POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. |journal=Neurology |volume=62 |issue= 6 |pages= 1009–11 |year= 2004 |pmid= 15037715 |doi=
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Akasaka-Manya K, Manya H, Endo T |title=Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation. |journal=Biochem. Biophys. Res. Commun. |volume=325 |issue= 1 |pages= 75–9 |year= 2005 |pmid= 15522202 |doi= 10.1016/j.bbrc.2004.10.001
*cite journal | author=Currier SC, Lee CK, Chang BS, "et al." |title=Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. |journal=Am. J. Med. Genet. A |volume=133 |issue= 1 |pages= 53–7 |year= 2005 |pmid= 15637732 |doi= 10.1002/ajmg.a.30487
*cite journal | author=Balci B, Uyanik G, Dincer P, "et al." |title=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. |journal=Neuromuscul. Disord. |volume=15 |issue= 4 |pages= 271–5 |year= 2005 |pmid= 15792865 |doi= 10.1016/j.nmd.2005.01.013
*cite journal | author=Otsuki T, Ota T, Nishikawa T, "et al." |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. |journal=DNA Res. |volume=12 |issue= 2 |pages= 117–26 |year= 2007 |pmid= 16303743 |doi= 10.1093/dnares/12.2.117
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406
*cite journal | author=Akasaka-Manya K, Manya H, Nakajima A, "et al." |title=Physical and functional association of human protein O-mannosyltransferases 1 and 2. |journal=J. Biol. Chem. |volume=281 |issue= 28 |pages= 19339–45 |year= 2006 |pmid= 16698797 |doi= 10.1074/jbc.M601091200
*cite journal | author=Bouchet C, Vuillaumier-Barrot S, Gonzales M, "et al." |title=Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families. |journal=Mol. Genet. Metab. |volume=90 |issue= 1 |pages= 93–6 |year= 2007 |pmid= 17079174 |doi= 10.1016/j.ymgme.2006.09.005

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