CDK5RAP1 Gene Summary [Human]
This gene encodes a regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]
Details
| Type | Protein Coding |
| Official Symbol | CDK5RAP1 |
| Official Name | CDK5 regulatory subunit associated protein 1 [Source:HGNC Symbol;Acc:HGNC:15880] |
| Ensembl ID | ENSG00000101391 |
| Bio databases IDs | |
| Aliases | CDK5 regulatory subunit associated protein 1 |
| Synonyms | 2310066P17RIK, C20orf34, C42, CDK5RAP1 mitochondrial tRNA methylthiotransferase, CDK5 regulatory subunit associated protein 1, CGI-05, HSPC167, LOC252827 |
| 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 CDK5RAP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- MiaB-like tRNA modifying enzyme
- Uncharacterized protein family UPF0004
- MiaB-like tRNA modifying enzyme, archaeal-type
- tRNA-N(6)-(isopentenyl)adenosine-37 thiotransferase enzyme MiaB
- Radical_SAM
- binding protein
- transferase activity, transferring alkylthio groups
- Radical SAM superfamily
- enzyme
- radical SAM methylthiotransferase, MiaB/RimO family
- Elongator protein 3, MiaB family, Radical SAM
- TRAM domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- non-melanoma skin cancer
- non-insulin-dependent diabetes mellitus
- exercise intolerance
- idiopathic scoliosis
- cardiac hypertrophy
regulates
- CDK5
- D-glucose
- enzyme
- oxygen
role in cell
- cell cycle progression
- function
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Mitochondria
- cytosol
- mitochondrial matrix
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CDK5RAP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of translational fidelity
- positive regulation of mitochondrial translation
- regulation of neuron differentiation
- brain development
- mitochondrial tRNA modification
- negative regulation of cyclin-dependent protein kinase activity
- tRNA methylthiolation
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- N6-isopentenyladenosine methylthiotransferase activity
- metal ion binding
- 4 iron, 4 sulfur cluster binding