MOCS2

Molybdenum cofactor synthesis protein 2A and molybdenum cofactor synthesis protein 2B are a pair of proteins that in humans are encoded from the same MOCS2 gene.^[5][6][7] These two proteins dimerize to form molybdopterin synthase.

MOCS2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4AP8
Identifiers
Aliases	MOCS2, MCBPE, MOCO1, MOCODB, MPTS, molybdenum cofactor synthesis 2
External IDs	OMIM: 603708; MGI: 1336894; HomoloGene: 32193; GeneCards: MOCS2; OMA:MOCS2 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q11.2 Start 53,095,679 bp[1] End 53,110,063 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 D2.2 Start 114,954,772 bp[2] End 114,968,811 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in anterior cingulate cortex right adrenal gland prefrontal cortex right adrenal cortex left adrenal gland left adrenal cortex caudate nucleus right frontal lobe right auricle of heart nucleus accumbens Top expressed in lens epithelium of lens Paneth cell transitional epithelium of urinary bladder left lobe of liver facial motor nucleus supraoptic nucleus jejunum aortic valve ascending aorta More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity molybdopterin synthase activity nucleotide binding Cellular component molybdopterin synthase complex cytosol nucleus cytoplasm nuclear speck Biological process Mo-molybdopterin cofactor biosynthetic process molybdopterin cofactor biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4338 17434 Ensembl ENSG00000164172 ENSMUSG00000015536 UniProt O96007 O96033 Q9Z223 Q9Z224 RefSeq (mRNA) NM_176806 NM_004531 NM_001113374 NM_001113375 NM_013826 RefSeq (protein) NP_004522 NP_789776 NP_789776.1 NP_001106845 NP_001106846 NP_038854 Location (UCSC) Chr 5: 53.1 – 53.11 Mb Chr 13: 114.95 – 114.97 Mb PubMed search [3] [4]
Wikidata
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Function

Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin and the catalytically active metal molybdenum. MoCo is synthesized from cyclic pyranopterin monophosphate (precursor Z) by the heterodimeric enzyme molybdopterin synthase.^[7]

Gene

The large and small subunits of molybdopterin synthase are both encoded from the MOCS2 gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits.^[7]

The MOCS2 gene contains 7 exons. Exons 1 to 3 encode MOCS2A (the small subunit), and exons 3 to 7 encode MOCS2B (large subunit).^[5]

Genetic disease

Defects in both copies of MOCS2 cause the molybdenum cofactor deficiency disease in babies.^[8]

Protein structure

MOCS2A and MOCS2B subunits form dimers in solution. These dimers in turn dimerize to form the tetrameric molybdopterin synthase complex.^[9]