Protein O-Mannosyltransferase 1 (POMT1)

RT; LGMD2K; Dolichyl-phosphate-mannose--protein mannosyltransferase 1

SPN	U125
HGNC	9202
MGI	2138994
PubMed	16575835
RGD	620078
UniProt	Q9Y6A1
Wiki	POMT1

Protein O-mannosyl-transferase 1 is an enzyme encoded by the POMT1 gene. It is a member of the dolichyl-phosphate-mannose-protein mannosyltransferases.

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.

Reference

"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 58:171-180(1999) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"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 Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]

"DNA sequence and analysis of human chromosome 9."
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome."
Am. J. Hum. Genet. 71:1033-1043(2002) [PubMed] [Europe PMC] [Abstract]

"Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity."
Proc. Natl. Acad. Sci. U.S.A. 101:500-505(2004) [PubMed] [Europe PMC] [Abstract]

"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]

"POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG."
Neurology 62:1009-1011(2004) [PubMed] [Europe PMC] [Abstract]

"Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome."
Am. J. Med. Genet. A 133:53-57(2005) [PubMed] [Europe PMC] [Abstract]

"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."
Neuromuscul. Disord. 15:271-275(2005) [PubMed] [Europe PMC] [Abstract]

"The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation."
Hum. Mutat. 27:453-459(2006) [PubMed] [Europe PMC] [Abstract]

"Expanding the clinical spectrum of POMT1 phenotype."
Neurology 66:1564-1567(2006) [PubMed] [Europe PMC] [Abstract]

"Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study."
Neurology 72:1802-1809(2009) [PubMed] [Europe PMC] [Abstract]