POMGNT1

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
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
Wikidata
View/Edit Human

Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 is an enzyme that in humans is encoded by the POMGNT1 gene.

Function

The product of the POMGNT1 gene, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase, participates in O-mannosyl glycan synthesis. A mutation in this gene is the cause of muscle-eye-brain disease (MIM 253280).

References

Further reading

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Cormand B, Avela K, Pihko H, et al. (1999). "Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping". Am. J. Hum. Genet. 64 (1): 126–35. doi:10.1086/302206. PMC 1377710. PMID 9915951.
• Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
• Yoshida A, Kobayashi K, Manya H, et al. (2002). "Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1". Dev. Cell. 1 (5): 717–24. doi:10.1016/S1534-5807(01)00070-3. PMID 11709191.
• Triki C, Louhichi N, Méziou M, et al. (2003). "Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients". Neuromuscul. Disord. 13 (1): 4–12. doi:10.1016/S0960-8966(02)00188-8. PMID 12467726.
• 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.
• Taniguchi K, Kobayashi K, Saito K, et al. (2003). "Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease". Hum. Mol. Genet. 12 (5): 527–34. doi:10.1093/hmg/ddg043. PMID 12588800.
• Manya H, Sakai K, Kobayashi K, et al. (2003). "Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease". Biochem. Biophys. Res. Commun. 306 (1): 93–7. doi:10.1016/S0006-291X(03)00924-0. PMID 12788071.
• Clark HF, Gurney AL, Abaya E, et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
• 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.
• Akasaka-Manya K, Manya H, Kobayashi K, et al. (2004). "Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1". Biochem. Biophys. Res. Commun. 320 (1): 39–44. doi:10.1016/j.bbrc.2004.05.129. PMID 15207699.
• Vervoort VS, Holden KR, Ukadike KC, et al. (2004). "POMGnT1 gene alterations in a family with neurological abnormalities". Ann. Neurol. 56 (1): 143–8. doi:10.1002/ana.20172. PMID 15236414.
• Diesen C, Saarinen A, Pihko H, et al. (2005). "POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease". J. Med. Genet. 41 (10): e115. doi:10.1136/jmg.2004.020701. PMC 1735594. PMID 15466003.
• 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.
• 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.
• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
• Abbott KL, Troupe K, Lee I, Pierce M (2006). "Integrin-dependent neuroblastoma cell adhesion and migration on laminin is regulated by expression levels of two enzymes in the O-mannosyl-linked glycosylation pathway, PomGnT1 and GnT-Vb". Exp. Cell Res. 312 (15): 2837–50. doi:10.1016/j.yexcr.2006.05.022. PMID 16857188.

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview