POMT1

POMT1
Identifiers
Aliases	POMT1, LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT, protein O-mannosyltransferase 1
External IDs	OMIM: 607423; MGI: 2138994; HomoloGene: 68548; GeneCards: POMT1; OMA:POMT1 - orthologs
Gene location (Mouse) Chr. Chromosome 2 (mouse)[1] Band 2|2 B Start 32,236,590 bp[1] End 32,255,005 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) n/a Top expressed in spermatocyte spermatid seminiferous tubule crypt of lieberkuhn of small intestine brown adipose tissue proximal tubule masseter muscle neural layer of retina right kidney intercostal muscle BioGPS More reference expression data
Gene ontology Molecular function glycosyltransferase activity dolichyl-phosphate-mannose-protein mannosyltransferase activity transferase activity mannosyltransferase activity metal ion binding Cellular component integral component of membrane acrosomal vesicle endoplasmic reticulum sarcoplasmic reticulum membrane endoplasmic reticulum membrane Biological process multicellular 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 process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10585 99011 Ensembl ENSG00000130714 ENSMUSG00000039254 UniProt Q9Y6A1 Q5JT04 Q8R2R1 RefSeq (mRNA) NM_001077365 NM_001077366 NM_001136113 NM_001136114 NM_007171 NM_145145 RefSeq (protein) NP_001070833 NP_001070834 NP_001129585 NP_001129586 NP_009102 NP_001340122 NP_001340123 NP_001340124 NP_001340125 NP_001340126 NP_001340127 NP_001340128 NP_001340129 NP_001361618 NP_001361619 NP_001361620 NP_001361621 NP_001361622 NP_001361624 NP_660127 Location (UCSC) n/a Chr 2: 32.24 – 32.26 Mb PubMed search [2] [3]
Wikidata
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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.

Function

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]

It is associated with limb-girdle muscular dystrophy type LGMD2K.^[6]

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]

References

1. GRCm38: Ensembl release 89: ENSMUSG00000039254 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. 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.
5. "Entrez Gene: POMT1 protein-O-mannosyltransferase 1".
6. Online Mendelian Inheritance in Man (OMIM): 609308
7. Rubio-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. PMC 5986861. PMID 29867208.
8. 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. PMC 8280732. PMID 34027671.

Further reading

• 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. 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

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