O-mannosylation is an important protein modification in eukaryotes that is initiated by an evolutionarily conserved family of protein O-mannosyltransferases. POMT1 shares sequence similarity with protein O-mannosyltransferases of S. cerevisiae. In yeast, these enzymes are located in the endoplasmic reticulum (ER) and are required for cell integrity and cell wall rigidity. POMT1 also shows similarity to the Drosophila 'rotated abdomen' (rt) gene, which when mutated causes defects in myogenesis and muscle structure.[supplied by OMIM][5]
In the retina it is known that O-mannosylation of α-DG carried out by POMT1 is crucial for the establishment of proper synapses at the outer plexiform layer and the transmission of visual information from cones and rods to their postsynaptic neurons, i.e. bipolar and horizontal cells.[7] Lack of POMT1 expression results in a good number of impairments in photoreceptors that have been documented at the proteomic, morphological and physiological levels.[7][8]
Referencesedit
^ abcGRCm38: Ensembl release 89: ENSMUSG00000039254 - 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.
^Jurado LA, Coloma A, Cruces J (June 1999). "Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1". Genomics. 58 (2): 171–80. doi:10.1006/geno.1999.5819. PMID 10366449.
^ abRubio-Fernández M, Uribe ML, Vicente-Tejedor J, Germain F, Susín-Lara C, Quereda C, et al. (June 2018). "Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy". Scientific Reports. 8 (1): 8543. Bibcode:2018NatSR...8.8543R. doi:10.1038/s41598-018-26855-x. PMC5986861. PMID 29867208.
^Uribe ML, Martín-Nieto J, Quereda C, Rubio-Fernández M, Cruces J, Janssen GM, et al. (June 2021). "Retinal Proteomics of a Mouse Model of Dystroglycanopathies Reveals Molecular Alterations in Photoreceptors". Journal of Proteome Research. 20 (6): 3268–3277. doi:10.1021/acs.jproteome.1c00126. PMC8280732. PMID 34027671.
Further readingedit
Grewal PK, Hewitt JE (October 2003). "Glycosylation defects: a new mechanism for muscular dystrophy?". Human Molecular Genetics. 12 Spec No 2 (90002): R259–64. doi:10.1093/hmg/ddg272. PMID 12925572.
Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, et al. (November 2002). "Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome". American Journal of Human Genetics. 71 (5): 1033–43. doi:10.1086/342975. PMC419999. PMID 12369018.
Sabatelli P, Columbaro M, Mura I, Capanni C, Lattanzi G, Maraldi NM, et al. (May 2003). "Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1638 (1): 57–62. doi:10.1016/s0925-4439(03)00040-1. PMID 12757935.
Manya H, Chiba A, Yoshida A, Wang X, Chiba Y, Jigami Y, et al. (January 2004). "Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity". Proceedings of the National Academy of Sciences of the United States of America. 101 (2): 500–5. Bibcode:2004PNAS..101..500M. doi:10.1073/pnas.0307228101. PMC327176. PMID 14699049.
Kim DS, Hayashi YK, Matsumoto H, Ogawa M, Noguchi S, Murakami N, et al. (March 2004). "POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG". Neurology. 62 (6): 1009–11. doi:10.1212/01.wnl.0000115386.28769.65. PMID 15037715. S2CID 28864658.
Akasaka-Manya K, Manya H, Endo T (December 2004). "Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation". Biochemical and Biophysical Research Communications. 325 (1): 75–9. doi:10.1016/j.bbrc.2004.10.001. PMID 15522202.
Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, et al. (February 2005). "Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome". American Journal of Medical Genetics. Part A. 133A (1): 53–7. doi:10.1002/ajmg.a.30487. PMID 15637732. S2CID 16549086.
Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, et al. (April 2005). "An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene". Neuromuscular Disorders. 15 (4): 271–5. doi:10.1016/j.nmd.2005.01.013. PMID 15792865. S2CID 23007648.
Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Research. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
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. PMC1356129. PMID 16344560.
Akasaka-Manya K, Manya H, Nakajima A, Kawakita M, Endo T (July 2006). "Physical and functional association of human protein O-mannosyltransferases 1 and 2". The Journal of Biological Chemistry. 281 (28): 19339–45. doi:10.1074/jbc.M601091200. PMID 16698797.
Bouchet C, Vuillaumier-Barrot S, Gonzales M, Boukari S, Bizec CL, Fallet C, et al. (January 2007). "Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families". Molecular Genetics and Metabolism. 90 (1): 93–6. doi:10.1016/j.ymgme.2006.09.005. PMID 17079174.
External linksedit
GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview
GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview
This article on a gene on human chromosome 9 is a stub. You can help Wikipedia by expanding it.
pomt1, protein, mannosyl, transferase, enzyme, that, humans, encoded, gene, member, dolichyl, phosphate, mannose, protein, mannosyltransferases, identifiersaliases, lgmd2k, mddga1, mddgb1, mddgc1, protein, mannosyltransferase, 1external, idsomim, 607423, 21389. Protein O mannosyl transferase 1 is an enzyme that in humans is encoded by the POMT1 gene 4 5 It is a member of the dolichyl phosphate mannose protein mannosyltransferases POMT1IdentifiersAliasesPOMT1 LGMD2K MDDGA1 MDDGB1 MDDGC1 RT protein O mannosyltransferase 1External IDsOMIM 607423 MGI 2138994 HomoloGene 68548 GeneCards POMT1Gene location Mouse Chr Chromosome 2 mouse 1 Band2 2 BStart32 236 590 bp 1 End32 255 005 bp 1 RNA expression patternBgeeHumanMouse ortholog n aTop expressed inspermatocytespermatidseminiferous tubulecrypt of lieberkuhn of small intestinebrown adipose tissueproximal tubulemasseter muscleintercostal musclespermatogoniumyolk sacBioGPSMore reference expression dataGene ontologyMolecular functionglycosyltransferase activity dolichyl phosphate mannose protein mannosyltransferase activity transferase activity mannosyltransferase activity metal ion bindingCellular componentintegral component of membrane acrosomal vesicle endoplasmic reticulum sarcoplasmic reticulum membrane endoplasmic reticulum membraneBiological processmulticellular organism development protein glycosylation protein O linked glycosylation extracellular matrix organization protein O linked mannosylation ER associated misfolded protein catabolic process mannosylation positive regulation of protein O linked glycosylation carbohydrate metabolic processSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez1058599011EnsemblENSG00000130714ENSMUSG00000039254UniProtQ9Y6A1Q5JT04Q8R2R1RefSeq mRNA NM 001077365NM 001077366NM 001136113NM 001136114NM 007171NM 145145RefSeq protein NP 001070833NP 001070834NP 001129585NP 001129586NP 009102NP 001340122NP 001340123NP 001340124NP 001340125NP 001340126NP 001340127NP 001340128NP 001340129NP 001361618NP 001361619NP 001361620NP 001361621NP 001361622NP 001361624NP 660127Location UCSC n aChr 2 32 24 32 26 MbPubMed search 2 3 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 References 3 Further reading 4 External linksFunction editO mannosylation is an important protein modification in eukaryotes that is initiated by an evolutionarily conserved family of protein O mannosyltransferases POMT1 shares sequence similarity with protein O mannosyltransferases of S cerevisiae In yeast these enzymes are located in the endoplasmic reticulum ER and are required for cell integrity and cell wall rigidity POMT1 also shows similarity to the Drosophila rotated abdomen rt gene which when mutated causes defects in myogenesis and muscle structure supplied by OMIM 5 It is associated with limb girdle muscular dystrophy type LGMD2K 6 In the retina it is known that O mannosylation of a DG carried out by POMT1 is crucial for the establishment of proper synapses at the outer plexiform layer and the transmission of visual information from cones and rods to their postsynaptic neurons i e bipolar and horizontal cells 7 Lack of POMT1 expression results in a good number of impairments in photoreceptors that have been documented at the proteomic morphological and physiological levels 7 8 References edit a b c GRCm38 Ensembl release 89 ENSMUSG00000039254 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 Jurado LA Coloma A Cruces J June 1999 Identification of a human homolog of the Drosophila rotated abdomen gene POMT1 encoding a putative protein O mannosyl transferase and assignment to human chromosome 9q34 1 Genomics 58 2 171 80 doi 10 1006 geno 1999 5819 PMID 10366449 a b Entrez Gene POMT1 protein O mannosyltransferase 1 Online Mendelian Inheritance in Man OMIM 609308 a b Rubio Fernandez M Uribe ML Vicente Tejedor J Germain F Susin Lara C Quereda C et al June 2018 Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy Scientific Reports 8 1 8543 Bibcode 2018NatSR 8 8543R doi 10 1038 s41598 018 26855 x PMC 5986861 PMID 29867208 Uribe ML Martin Nieto J Quereda C Rubio Fernandez M Cruces J Janssen GM et al June 2021 Retinal Proteomics of a Mouse Model of Dystroglycanopathies Reveals Molecular Alterations in Photoreceptors Journal of Proteome Research 20 6 3268 3277 doi 10 1021 acs jproteome 1c00126 PMC 8280732 PMID 34027671 Further reading editGrewal PK Hewitt JE October 2003 Glycosylation defects a new mechanism for muscular dystrophy Human Molecular Genetics 12 Spec No 2 90002 R259 64 doi 10 1093 hmg ddg272 PMID 12925572 Beltran Valero de Bernabe D Currier S Steinbrecher A Celli J van Beusekom E van der Zwaag B et al November 2002 Mutations in the O mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker Warburg syndrome American Journal of Human Genetics 71 5 1033 43 doi 10 1086 342975 PMC 419999 PMID 12369018 Sabatelli P Columbaro M Mura I Capanni C Lattanzi G Maraldi NM et al May 2003 Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker Warburg syndrome caused by POMT1 mutation Biochimica et Biophysica Acta BBA Molecular Basis of Disease 1638 1 57 62 doi 10 1016 s0925 4439 03 00040 1 PMID 12757935 Manya H Chiba A Yoshida A Wang X Chiba Y Jigami Y et al January 2004 Demonstration of mammalian protein O mannosyltransferase activity coexpression of POMT1 and POMT2 required for enzymatic activity Proceedings of the National Academy of Sciences of the United States of America 101 2 500 5 Bibcode 2004PNAS 101 500M doi 10 1073 pnas 0307228101 PMC 327176 PMID 14699049 Kim DS Hayashi YK Matsumoto H Ogawa M Noguchi S Murakami N et al March 2004 POMT1 mutation results in defective glycosylation and loss of laminin binding activity in alpha DG Neurology 62 6 1009 11 doi 10 1212 01 wnl 0000115386 28769 65 PMID 15037715 S2CID 28864658 Akasaka Manya K Manya H Endo T December 2004 Mutations of the POMT1 gene found in patients with Walker Warburg syndrome lead to a defect of protein O mannosylation Biochemical and Biophysical Research Communications 325 1 75 9 doi 10 1016 j bbrc 2004 10 001 PMID 15522202 Currier SC Lee CK Chang BS Bodell AL Pai GS Job L et al February 2005 Mutations in POMT1 are found in a minority of patients with Walker Warburg syndrome American Journal of Medical Genetics Part A 133A 1 53 7 doi 10 1002 ajmg a 30487 PMID 15637732 S2CID 16549086 Balci B Uyanik G Dincer P Gross C Willer T Talim B et al April 2005 An autosomal recessive limb girdle muscular dystrophy LGMD2 with mild mental retardation is allelic to Walker Warburg syndrome WWS caused by a mutation in the POMT1 gene Neuromuscular Disorders 15 4 271 5 doi 10 1016 j nmd 2005 01 013 PMID 15792865 S2CID 23007648 Otsuki T Ota T Nishikawa T Hayashi K Suzuki Y Yamamoto J et al 2007 Signal sequence and keyword trap in silico for selection of full length human cDNAs encoding secretion or membrane proteins from oligo capped cDNA libraries DNA Research 12 2 117 26 doi 10 1093 dnares 12 2 117 PMID 16303743 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 Akasaka Manya K Manya H Nakajima A Kawakita M Endo T July 2006 Physical and functional association of human protein O mannosyltransferases 1 and 2 The Journal of Biological Chemistry 281 28 19339 45 doi 10 1074 jbc M601091200 PMID 16698797 Bouchet C Vuillaumier Barrot S Gonzales M Boukari S Bizec CL Fallet C et al January 2007 Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families Molecular Genetics and Metabolism 90 1 93 6 doi 10 1016 j ymgme 2006 09 005 PMID 17079174 External links editGeneReviews NCBI NIH UW entry on Congenital Muscular Dystrophy Overview GeneReviews NCBI NIH UW entry on Anophthalmia Microphthalmia Overview nbsp This article on a gene on human chromosome 9 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title POMT1 amp oldid 1079520794, wikipedia, wiki, book, books, library,
