InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MOCS2

Summary

InnateDB Protein

IDBP-236408.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MOCS2

Protein Name

molybdenum cofactor synthesis 2

Synonyms

MCBPE; MOCO1; MOCODB; MPTS;

Species

Homo sapiens

Ensembl Protein

ENSP00000380157

InnateDB Gene

IDBG-20420 (MOCS2)

Protein Structure

UniProt Annotation

Function

Catalytic subunit of the molybdopterin synthase complex, a complex that catalyzes the conversion of precursor Z into molybdopterin. Acts by mediating the incorporation of 2 sulfur atoms from thiocarboxylated MOCS2A into precursor Z to generate a dithiolene group. {ECO:0000255HAMAP-Rule:MF_03052, ECO:0000269PubMed:12732628, ECO:0000269PubMed:15073332}.

Subcellular Localization

Cytoplasm, cytosol {ECO:0000255HAMAP- Rule:MF_03052, ECO:0000269PubMed:15073332}.

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:16021469, ECO:0000269PubMed:16737835}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

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}.

Comments

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: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