POMGNT1

POMGNT1
Identifiers
Aliases	POMGNT1, GNTI.2, GnT I.2, LGMD2O, MEB, MGAT1.2, gnT-I.2, protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-), RP76, LGMDR15
External IDs	OMIM: 606822 MGI: 1915523 HomoloGene: 9806 GeneCards: POMGNT1
Gene location (Human)
Chr.	Chromosome 1 (human)
End	46,220,305 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	116,017,046 bp
RNA expression pattern
	Top expressed in
	anterior pituitary; ; left ventricle; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; gastrocnemius muscle; ; nucleus accumbens; ; prefrontal cortex; ; right adrenal gland; ; tibial nerve; ; caudate nucleus;
	Top expressed in
	lacrimal gland; ; spermatid; ; spermatocyte; ; salivary gland; ; submandibular gland; ; parotid gland; ; seminal vesicula; ; ankle; ; seminiferous tubule; ; cumulus cell;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transferase activity; protein binding; glycosyltransferase activity; beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity; acetylglucosaminyltransferase activity; manganese ion binding; metal ion binding;
Cellular component	Golgi apparatus; membrane; Golgi membrane; integral component of membrane; integral component of Golgi membrane;
Biological process	protein glycosylation; protein O-linked glycosylation; O-glycan processing;
	Sources:Amigo / QuickGO
Orthologs
	55624
	68273
	ENSG00000085998
	ENSMUSG00000028700
	Q8WZA1
	Q91X88
	NM_001243766; NM_001290129; NM_001290130; NM_017739
	NM_001290658; NM_026651; NM_029786
	NP_001230695; NP_001277058; NP_001277059; NP_060209
	NP_001277587; NP_080927; NP_084062
	Wikidata
View/Edit Human	View/Edit Mouse

Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 is an enzyme that in humans is encoded by the POMGNT1 gene.^[5]^[6]

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]^[6]

References

Notes

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000085998 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028700 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase".

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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000085998 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028700 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11742540-5] 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.

[entrez-6] "Entrez Gene: POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase".

[1]

[2]

[3]

[4]

[5]

[6]

Function

References

Notes

Further reading

External links