MOCS1

Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in this pathway. 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, whereas additional splice variants are likely to produce a fusion between the two open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A. A related pseudogene has been identified on chromosome 16. [provided by RefSeq, Nov 2017]

Description

Molybdenum cofactor synthesis 1

Tissue specificity

Low tissue specificity

Subcell location

Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

6 (39899578 - 39934551)

Ensembl ID

ENSG00000124615  (ver. 103.38)

Orthologs

Mouse Mocs1: ENSMUSG00000064120

UniProt

Q9NZB8

neXtProt

NX_Q9NZB8

Human splice variants
Mouse splice variants

Protein structure