POMGNT1
| Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | POMGNT1 ; GNTI.2; GnT I.2; LGMD2O; MEB; MGAT1.2; gnT-I.2 | ||||||||||||
| External IDs | OMIM: 606822 MGI: 1915523 HomoloGene: 9806 GeneCards: POMGNT1 Gene | ||||||||||||
| EC number | 2.4.1.- | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 55624 | 68273 | |||||||||||
| Ensembl | ENSG00000085998 | ENSMUSG00000028700 | |||||||||||
| UniProt | Q8WZA1 | Q91X88 | |||||||||||
| RefSeq (mRNA) | NM_001243766 | NM_001290658 | |||||||||||
| RefSeq (protein) | NP_001230695 | NP_001277587 | |||||||||||
| Location (UCSC) | Chr 1: 46.65 – 46.69 Mb | Chr 4: 116.12 – 116.16 Mb | |||||||||||
| PubMed search | |||||||||||||
Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 is an enzyme that in humans is encoded by the POMGNT1 gene.[1][2]
Function
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][2]
References
Notes
- ↑ Zhang W, Betel D, Schachter H (Dec 2001). "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. doi:10.1042/0264-6021:3610153. PMC 1222290. PMID 11742540.
- ↑ 2.0 2.1 "Entrez Gene: POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase".
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.