POMGNT1 explained

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 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).^[3]

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.^[4] POMGnT1 (EC 2.4.1.101) is a protein belonging to the GT13 family of glycosyltransferases according to the Carbohydrate-Active enZYmes (CAZy) database.^[5] 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.^[6]

References

Further reading

• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . January 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . October 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 .
• Cormand B, Avela K, Pihko H, Santavuori P, Talim B, Topaloglu H, de la Chapelle A, Lehesjoki AE . 6 . 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 . January 1999 . 9915951 . 1377710 . 10.1086/302206 .
• Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ . 6 . 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 . March 2000 . 10737800 . 16267 . 10.1073/pnas.97.7.3491 . 2000PNAS...97.3491D . free .
• Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhashi H, Takahashi S, Takeuchi M, Herrmann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T, Endo T . 6 . Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 . Developmental Cell . 1 . 5 . 717–24 . November 2001 . 11709191 . 10.1016/S1534-5807(01)00070-3 . free .
• Triki C, Louhichi N, Méziou M, Choyakh F, Kéchaou MS, Jlidi R, Mhiri C, Fakhfakh F, Ayadi H . 6 . 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 . January 2003 . 12467726 . 10.1016/S0960-8966(02)00188-8 . 24406933 .
• Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T . 6 . Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease . Human Molecular Genetics . 12 . 5 . 527–34 . March 2003 . 12588800 . 10.1093/hmg/ddg043 . free .
• Manya H, Sakai K, Kobayashi K, Taniguchi K, Kawakita M, Toda T, Endo T . Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease . Biochemical and Biophysical Research Communications . 306 . 1 . 93–7 . June 2003 . 12788071 . 10.1016/S0006-291X(03)00924-0 .
• Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A . 6 . 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 . October 2003 . 12975309 . 403697 . 10.1101/gr.1293003 .
• Akasaka-Manya K, Manya H, Kobayashi K, Toda T, Endo T . Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1 . Biochemical and Biophysical Research Communications . 320 . 1 . 39–44 . July 2004 . 15207699 . 10.1016/j.bbrc.2004.05.129 .
• Vervoort VS, Holden KR, Ukadike KC, Collins JS, Saul RA, Srivastava AK . POMGnT1 gene alterations in a family with neurological abnormalities . Annals of Neurology . 56 . 1 . 143–8 . July 2004 . 15236414 . 10.1002/ana.20172 . 40752220 .
• Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez J, Valanne L, Joensuu T, Lehesjoki AE . 6 . POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease . Journal of Medical Genetics . 41 . 10 . e115 . October 2004 . 15466003 . 1735594 . 10.1136/jmg.2004.020701 .
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S . 6 . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes . Genome Research . 16 . 1 . 55–65 . January 2006 . 16344560 . 1356129 . 10.1101/gr.4039406 .
• Abbott KL, Troupe K, Lee I, Pierce M . 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 . September 2006 . 16857188 . 10.1016/j.yexcr.2006.05.022 .

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview

Notes and References

1. Zhang W, Betel D, Schachter H . 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 . January 2002 . 11742540 . 1222290. 10.1042/0264-6021:3610153 .
2. Web site: Entrez Gene: POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase.
3. Web site: OMIM Entry - # 253280 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3. www.omim.org. 2016-04-26.
4. Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhashi H, Takahashi S, Takeuchi M, Herrmann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T, Endo T . 6 . Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 . Developmental Cell . 1 . 5 . 717–24 . November 2001 . 11709191 . 10.1016/s1534-5807(01)00070-3 . free .
5. Lombard V, Golaconda Ramulu H, Drula E, Coutinho PM, Henrissat B . The carbohydrate-active enzymes database (CAZy) in 2013 . Nucleic Acids Research . 42 . Database issue . D490-5 . January 2014 . 24270786 . 3965031. 10.1093/nar/gkt1178 .
6. Uribe ML, Haro C, Ventero MP, Campello L, Cruces J, Martín-Nieto J . Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease . Molecular Vision . 22 . 658–73 . 2016 . 27375352 . 4911909.