Molybdenum Cofactor Synthesis 1 (MOCS1)

MIG11; MOCOD; MOCS1A; MOCS1B; Molybdenum Cofactor Biosynthesis Protein 1; Cell migration-inducing gene 11 protein; Cyclic pyranopterin monophosphate synthase accessory

SPN	U228
HGNC	7190
MGI	1928904
PubMed	12754701
RGD	1308471
UniProt	O14940
Wiki	MOCS1

Molybdenum cofactor biosynthesis protein 1 is a protein encoded by the MOCS1 gene.Both copies of this gene are defective in patients with molybdenum cofactor deficiency, type A.Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. Molybdenum cofactor biosynthesis protein 1 is involved in molybdenum cofactor biosynthesis. (This gene was originally thought to produce a bicistronic mRNA with the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent open reading frames. However, only the first open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA.) Two of the splice variants found for this gene express proteins (MOCS1A-MOCS1B) that result from a fusion between the two open reading frames.

Reference

"Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency."
Nat. Genet. 20:51-53(1998) [PubMed] [Europe PMC] [Abstract]

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Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

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Nature 425:805-811(2003) [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]

"Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames."
RNA 6:928-936(2000) [PubMed] [Europe PMC] [Abstract]

"Functionality of alternative splice forms of the first enzymes involved in human molybdenum cofactor biosynthesis."
J. Biol. Chem. 277:18303-18312(2002) [PubMed] [Europe PMC] [Abstract]

"The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons."
Mol. Genet. Metab. 76:340-343(2002) [PubMed] [Europe PMC] [Abstract]

"Characterization of MOCS1A, an oxygen-sensitive iron-sulfur protein involved in human molybdenum cofactor biosynthesis."
J. Biol. Chem. 279:34721-34732(2004) [PubMed] [Europe PMC] [Abstract]

"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]

"Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A."
Hum. Genet. 103:639-644(1998) [PubMed] [Europe PMC] [Abstract]

"Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH."
Hum. Mutat. 21:569-576(2003) [PubMed] [Europe PMC] [Abstract]

"Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase."
Hum. Genet. 117:565-570(2005) [PubMed] [Europe PMC] [Abstract]