CIAO1 Gene Summary [Human]
Involved in iron-sulfur cluster assembly and protein maturation by iron-sulfur cluster transfer. Located in cytoplasm. Part of CIA complex and MMXD complex. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | CIAO1 |
| Official Name | cytosolic iron-sulfur assembly component 1 [Source:HGNC Symbol;Acc:HGNC:14280] |
| Ensembl ID | ENSG00000144021 |
| Bio databases IDs | |
| Aliases | cytosolic iron-sulfur assembly component 1 |
| Synonyms | CIA1, cytosolic iron-sulfur assembly component 1, cytosolic iron-sulfur protein assembly 1, cytosolic iron-sulphur assembly component 1, cytosolic iron-sulphur protein assembly 1, MMDS10, WDR39 |
| 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 CIAO1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- WD40 repeats
- WD domain, G-beta repeat
- WD40
- protein binding
- transcription factor activity
Pathways
Biological processes and signaling networks where the CIAO1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- multiple mitochondrial dysfunctions syndrome type 10
- neuromuscular disease
role in cell
- downregulation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- cytosol
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CIAO1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of cell proliferation
- chromosome segregation
- iron-sulfur cluster assembly
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- MMXD complex
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding