MOCS1 Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | MOCS1 |
| Official Name | molybdenum cofactor synthesis 1 [Source:HGNC Symbol;Acc:HGNC:7190] |
| Ensembl ID | ENSG00000124615 |
| Bio databases IDs | |
| Aliases | molybdenum cofactor synthesis 1 |
| Synonyms | 3110045D15Rik, MIG11, MOCOD, molybdenum cofactor synthesis 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MOCS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- carbon-carbon lyase
- 4Fe-4S single cluster domain
- anaerobic ribonucleoside-triphosphate reductase activating protein
- MoaC
- Radical SAM superfamily
- enzyme
- pyruvate formate-lyase 1-activating enzyme
- Molybdenum Cofactor Synthesis C
- phosphorus-oxygen lyase
- Radical_SAM
- binding protein
- molybdenum cofactor biosynthesis protein A, bacterial
- GTP 3',8-cyclase MoaA
- MoaC family
- Elongator protein 3, MiaB family, Radical SAM
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- complementation group A molybdenum cofactor deficiency
- cystinuria
- combined molybdoflavoprotein enzyme deficiency
- aminoaciduria
- mastocytosis
- systemic mastocytosis
regulated by
- SL 327
- levodopa
regulates
- molybdenum cofactor complex
- enzyme
- fosdenopterin
- uric acid
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MOCS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- Mo-molybdopterin cofactor biosynthetic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
Molecular Function
What the gene product does at the molecular level
- GTP binding
- metal ion binding
- 4 iron, 4 sulfur cluster binding