Biology:POMT1
 Generic protein structure example |
Protein O-mannosyl-transferase 1 is an enzyme that in humans is encoded by the POMT1 gene.[1][2] 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][2]
It is associated with limb-girdle muscular dystrophy type LGMD2K.[3]
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.[4] Lack of POMT1 expression results in a good number of impairments in photoreceptors that have been documented at the proteomic, morphological and physiological levels.[4][5]
References
- ↑ "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. June 1999. doi:10.1006/geno.1999.5819. PMID 10366449.
- ↑ 2.0 2.1 "Entrez Gene: POMT1 protein-O-mannosyltransferase 1". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=10585.
- ↑ Online Mendelian Inheritance in Man (OMIM) 609308
- ↑ 4.0 4.1 "Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy". Scientific Reports 8 (1): 8543. June 2018. doi:10.1038/s41598-018-26855-x. PMID 29867208. Bibcode: 2018NatSR...8.8543R.
- ↑ "Retinal Proteomics of a Mouse Model of Dystroglycanopathies Reveals Molecular Alterations in Photoreceptors". Journal of Proteome Research 20 (6): 3268–3277. June 2021. doi:10.1021/acs.jproteome.1c00126. PMID 34027671.
Further reading
- "Glycosylation defects: a new mechanism for muscular dystrophy?". Human Molecular Genetics 12 Spec No 2 (90002): R259–64. October 2003. doi:10.1093/hmg/ddg272. PMID 12925572.
- "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. November 2002. doi:10.1086/342975. PMID 12369018.
- "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. May 2003. doi:10.1016/s0925-4439(03)00040-1. PMID 12757935.
- "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. January 2004. doi:10.1073/pnas.0307228101. PMID 14699049. Bibcode: 2004PNAS..101..500M.
- "POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG". Neurology 62 (6): 1009–11. March 2004. doi:10.1212/01.wnl.0000115386.28769.65. PMID 15037715.
- "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. December 2004. doi:10.1016/j.bbrc.2004.10.001. PMID 15522202.
- "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. February 2005. doi:10.1002/ajmg.a.30487. PMID 15637732.
- "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. April 2005. doi:10.1016/j.nmd.2005.01.013. PMID 15792865.
- "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. 2007. doi:10.1093/dnares/12.2.117. PMID 16303743.
- "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research 16 (1): 55–65. January 2006. doi:10.1101/gr.4039406. PMID 16344560.
- "Physical and functional association of human protein O-mannosyltransferases 1 and 2". The Journal of Biological Chemistry 281 (28): 19339–45. July 2006. doi:10.1074/jbc.M601091200. PMID 16698797.
- "Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families". Molecular Genetics and Metabolism 90 (1): 93–6. January 2007. 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
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