CDKAL1 Gene Summary [Human]
The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | CDKAL1 |
| Official Name | CDK5 regulatory subunit associated protein 1 like 1 [Source:HGNC Symbol;Acc:HGNC:21050] |
| Ensembl ID | ENSG00000145996 |
| Bio databases IDs | |
| Aliases | CDK5 regulatory subunit associated protein 1 like 1 |
| Synonyms | 1190005B03RIK, 6620401C13Rik, CDK5 regulatory subunit associated protein 1-like 1, CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase, LOC120093069 |
| 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 CDKAL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Uncharacterized protein family UPF0004
- MiaB-like tRNA modifying enzyme, archaeal-type
- tRNA-N(6)-(isopentenyl)adenosine-37 thiotransferase enzyme MiaB
- Radical_SAM
- transferase activity, transferring alkylthio groups
- Radical SAM superfamily
- enzyme
- radical SAM methylthiotransferase, MiaB/RimO family
- protein binding
- Elongator protein 3, MiaB family, Radical SAM
- ribosomal protein S12 methylthiotransferase RimO
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cardiovascular disorder
- insulin resistance
- Alzheimer disease
- hypertension
- diabetic polyneuropathy
- ulcerative colitis
- carcinoid tumor
- neoplasia
- non-insulin-dependent diabetes mellitus
- gestational diabetes mellitus
regulated by
- OGA
- testosterone
role in cell
- expression in
- activation in
- function
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
- endoplasmic reticulum mitochondria contact site
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- rough endoplasmatic reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CDKAL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- tRNA methylthiolation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- rough endoplasmic reticulum
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- 4 iron, 4 sulfur cluster binding
- N6-threonylcarbomyladenosine methylthiotransferase activity