Homo sapiens Gene: MOCS2
Summary
InnateDB Gene IDBG-20420.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MOCS2
Gene Name molybdenum cofactor synthesis 2
Synonyms MCBPE; MOCO1; MOCODB; MPTS
Species Homo sapiens
Ensembl Gene ENSG00000164172
Encoded Proteins
molybdenum cofactor synthesis 2
molybdenum cofactor synthesis 2
molybdenum cofactor synthesis 2
molybdenum cofactor synthesis 2
molybdenum cofactor synthesis 2
molybdenum cofactor synthesis 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this 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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:53095679-53110063
Strand Reverse strand
Band q11.2
Transcripts
ENST00000361377 ENSP00000355160
ENST00000396954 ENSP00000380157
ENST00000450852 ENSP00000411022
ENST00000510818 ENSP00000424267
ENST00000502402
ENST00000508922 ENSP00000426274
ENST00000514553
ENST00000527216 ENSP00000435326
ENST00000584946 ENSP00000464663
ENST00000582677 ENSP00000462870
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 1 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0030366 molybdopterin synthase activity
GO:0042802 identical protein binding
Biological Process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0006777 Mo-molybdopterin cofactor biosynthetic process
GO:0032324 molybdopterin cofactor biosynthetic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0019008 molybdopterin synthase complex
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Molybdenum cofactor biosynthesis pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
Folate biosynthesis pathway
Sulfur relay system pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL E9PKT9
UniProt Splice Variant
Entrez Gene 4338
UniGene Hs.163645 Hs.594335 Hs.606674 Hs.613481 Hs.715874
RefSeq NM_004531 NM_176806
HUGO HGNC:7193
OMIM 603708
CCDS CCDS3958 CCDS47205
HPRD 04750
IMGT
EMBL AC008966
GenPept
RNA Seq Atlas 4338