POMGNT1

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

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)[1] Band 1p34.1 Start 46,188,682 bp[1] End 46,220,305 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 D1 Start 116,123,840 bp[2] End 116,159,849 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • transferase activity • GO:0001948 protein binding • transferase activity, transferring glycosyl groups • 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
Species	Human	Mouse
Entrez	55624	68273
Ensembl	ENSG00000085998	ENSMUSG00000028700
UniProt	Q8WZA1	Q91X88
RefSeq (mRNA)	NM_001243766 NM_001290129 NM_001290130 NM_017739	NM_001290658 NM_026651 NM_029786
RefSeq (protein)	NP_001230695 NP_001277058 NP_001277059 NP_060209	NP_001277587 NP_080927 NP_084062
Location (UCSC)	Chr 1: 46.19 – 46.22 Mb	Chr 4: 116.12 – 116.16 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function and expression

The product of the POMGNT1 gene, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGnT1), participates in O-mannosyl glycan synthesis. A mutation in this gene is the cause of muscle-eye-brain disease (MIM 253280).[7]

Transcription of the POMGNT1 gene gives rise to a 2.7 kb mRNA in different tissues, with higher expression levels in the skeletal muscle, heart, and kidney and lower levels in the brain.[8] POMGnT1 (EC 2.4.1.101) is a protein belonging to the GT13 family of glycosyltransferases according to the Carbohydrate-Active enZYmes (CAZy) database.[9] In humans, the main isoform of POMGnT1 contains 660 amino acids whose sequence yields a calculated molecular mass of 75,252 Da (UniProtKB Q8WZA1).

The POMGNT1 mRNA and its encoded protein is expressed in the neural retina of all mammals studied. POMGnT1 locates in the cytoplasmic fraction in the mouse retina, where it concentrates in the Golgi complex within the myoid of photoreceptor inner segments.[10]

References

1. GRCh38: Ensembl release 89: ENSG00000085998 - Ensembl, May 2017
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.
5. Zhang W, Betel D, Schachter H (January 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". The Biochemical Journal. 361 (Pt 1): 153–62. doi:10.1042/0264-6021:3610153. PMC 1222290. PMID 11742540.
6. "Entrez Gene: POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase".
7. "OMIM Entry - # 253280 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3". www.omim.org. Retrieved 2016-04-26.
8. Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, et al. (November 2001). "Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1". Developmental Cell. 1 (5): 717–24. doi:10.1016/s1534-5807(01)00070-3. PMID 11709191.
9. Lombard V, Golaconda Ramulu H, Drula E, Coutinho PM, Henrissat B (January 2014). "The carbohydrate-active enzymes database (CAZy) in 2013". Nucleic Acids Research. 42 (Database issue): D490-5. doi:10.1093/nar/gkt1178. PMC 3965031. PMID 24270786.
10. Uribe ML, Haro C, Ventero MP, Campello L, Cruces J, Martín-Nieto J (2016). "Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease". Molecular Vision. 22: 658–73. PMC 4911909. PMID 27375352.

Further reading

• Maruyama K, Sugano S (January 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, Suyama A, Sugano S (October 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, Santavuori P, Talim B, Topaloglu H, et al. (January 1999). "Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping". American Journal of Human Genetics. 64 (1): 126–35. doi:10.1086/302206. PMC 1377710. PMID 9915951.
• Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, et al. (March 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
• Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, et al. (November 2001). "Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1". Developmental Cell. 1 (5): 717–24. doi:10.1016/S1534-5807(01)00070-3. PMID 11709191.
• Triki C, Louhichi N, Méziou M, Choyakh F, Kéchaou MS, Jlidi R, et al. (January 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". Neuromuscular Disorders. 13 (1): 4–12. doi:10.1016/S0960-8966(02)00188-8. PMID 12467726. S2CID 24406933.
• Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, et al. (March 2003). "Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease". Human Molecular Genetics. 12 (5): 527–34. doi:10.1093/hmg/ddg043. PMID 12588800.
• Manya H, Sakai K, Kobayashi K, Taniguchi K, Kawakita M, Toda T, Endo T (June 2003). "Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease". Biochemical and Biophysical Research Communications. 306 (1): 93–7. doi:10.1016/S0006-291X(03)00924-0. PMID 12788071.
• Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, et al. (October 2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Research. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
• Akasaka-Manya K, Manya H, Kobayashi K, Toda T, Endo T (July 2004). "Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1". Biochemical and Biophysical Research Communications. 320 (1): 39–44. doi:10.1016/j.bbrc.2004.05.129. PMID 15207699.
• Vervoort VS, Holden KR, Ukadike KC, Collins JS, Saul RA, Srivastava AK (July 2004). "POMGnT1 gene alterations in a family with neurological abnormalities". Annals of Neurology. 56 (1): 143–8. doi:10.1002/ana.20172. PMID 15236414. S2CID 40752220.
• Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, et al. (October 2004). "POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease". Journal of Medical Genetics. 41 (10): e115. doi:10.1136/jmg.2004.020701. PMC 1735594. PMID 15466003.
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Abbott KL, Troupe K, Lee I, Pierce M (September 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". Experimental Cell Research. 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
• Overview of all the structural information available in the PDB for UniProt: Q8WZA1 (Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1) at the PDBe-KB.