POMGNT1

From Wikipedia, the free encyclopedia

Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase

Identifiers

POMGNT1; DKFZp761B182; FLJ20277; GnTI.2; MEB; MGAT1.2

External IDs

OMIM: 606822 MGI: 1915523 HomoloGene: 9806

Gene ontology
Molecular Function:	• alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity • transferase activity, transferring glycosyl groups • manganese ion binding • beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity
Cellular Component:	• Golgi membrane • microsome • membrane • integral to membrane
Biological Process:	• protein amino acid N-linked glycosylation • protein amino acid O-linked glycosylation

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_017739 (mRNA)
NP_060209 (protein)

XM_983737 (mRNA)
XP_988831 (protein)

Location

Chr 1: 46.43 - 46.46 Mb

Chr 4: 115.65 - 115.66 Mb

Pubmed search

[1]

[2]

Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase, also known as POMGNT1, is a human gene.^[1]

The product of the POMGNT1 gene, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase, participates in O-mannosyl glycan synthesis. It is mutant in muscle-eye-brain disease (MIM 253280).[supplied by OMIM]^[1]

[edit] References

^ ^a ^b Entrez Gene: POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase.

[edit] 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. 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. 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. 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. 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. PMID 11709191.
Zhang W, Betel D, Schachter H (2002). "Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I.". Biochem. J. 361 (Pt 1): 153–62. PMID 11742540.
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. 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. 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. 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. 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. 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. 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. 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. 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.