InnateDB Protein
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IDBP-481146.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MOCS2
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Protein Name
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molybdenum cofactor synthesis 2
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Synonyms
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MCBPE; MOCO1; MOCODB; MPTS;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000426274
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InnateDB Gene
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IDBG-20420 (MOCS2)
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Protein Structure
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Function |
Acts as a sulfur carrier required for molybdopterin biosynthesis. Component of the molybdopterin synthase complex that catalyzes the conversion of precursor Z into molybdopterin by mediating the incorporation of 2 sulfur atoms into precursor Z to generate a dithiolene group. In the complex, serves as sulfur donor by being thiocarboxylated (-COSH) at its C-terminus by MOCS3. After interaction with MOCS2B, the sulfur is then transferred to precursor Z to form molybdopterin. {ECO:0000255HAMAP-Rule:MF_03051, ECO:0000269PubMed:12732628}.
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Subcellular Localization |
Cytoplasm, cytosol {ECO:0000255HAMAP- Rule:MF_03051, ECO:0000269PubMed:15073332}.
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Disease Associations |
Molybdenum cofactor deficiency, complementation group B (MOCODB) [MIM:252160]: An autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood. {ECO:0000269PubMed:10053004, ECO:0000269PubMed:11746050, ECO:0000269PubMed:16021469, ECO:0000269PubMed:16737835}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed. Highest levels are found in heart and skeletal muscle. Lower levels are present in brain, kidney and pancreas. Very low levels are found in lung and peripheral blood leukocytes. {ECO:0000269PubMed:10053003, ECO:0000269PubMed:9889283}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003749
ThiamineS/Molybdopterin converting factor subunit 1
IPR010034
Molybdopterin converting factor, subunit 1
IPR016155
Molybdopterin synthase/thiamin biosynthesis sulphur carrier, beta-grasp
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PFAM |
PF02597
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O96033
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PhosphoSite |
PhosphoSite-O96033
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
4338
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UniGene |
Hs.715874
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RefSeq |
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HUGO |
HGNC:7193
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OMIM |
603708
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CCDS |
CCDS47205
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HPRD |
04750
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IMGT |
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EMBL |
AF091871
AF117815
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GenPept |
AAD13296
AAD14598
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