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; OMA:POMGNT1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1p34.1 Start 46,188,683 bp End 46,220,305 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4|4 D1 Start 115,981,037 bp End 116,017,046 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in apex of heart C1 segment anterior pituitary left ventricle right lobe of thyroid gland left lobe of thyroid gland right frontal lobe gastrocnemius muscle right auricle nucleus accumbens Top expressed in lacrimal gland spermatid spermatocyte choroid plexus of fourth ventricle salivary gland Epithelium of choroid plexus submandibular gland parotid gland seminal vesicula muscle of thigh More reference expression data BioGPS 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 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: 115.98 – 116.02 Mb PubMed search
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.

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).

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. POMGnT1 (EC 2.4.1.101) is a protein belonging to the GT13 family of glycosyltransferases according to the Carbohydrate-Active enZYmes (CAZy) database. 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.

References

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.