CAMTA1 Gene Summary [Human]
The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017]
Details
| Type | Protein Coding |
| Official Symbol | CAMTA1 |
| Official Name | calmodulin binding transcription activator 1 [Source:HGNC Symbol;Acc:HGNC:18806] |
| Ensembl ID | ENSG00000171735 |
| Bio databases IDs | |
| Aliases | calmodulin binding transcription activator 1 |
| Synonyms | 1810059M14RIK, 2310058O09RIK, AI316882, AW987475, calmodulin binding transcription activator 1, CANPMR, CECBA, KIAA0833, LOC100505935, LOC102641065, mKIAA0833 |
| 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 CAMTA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ankyrin repeats (many copies)
- IQ (isoleucine-glutamine) motif containing G and D (IQCG and IQCD)
- CG-1 domain
- IPT/TIG domain
- Ankyrin repeats (3 copies)
- sequence-specific DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- diffuse large B-cell lymphoma
- glioblastoma
- COVID-19
- metabolic syndrome X
- nonprogressive cerebellar ataxia with mental retardation
- hepatic steatosis
- hereditary disorder
- insomnia
- colorectal cancer
regulates
- carboplatin
- DNA promoter
- DNA endogenous promoter
- NPPA
- RNA polymerase II
role in cell
- expression in
- sphere formation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- cytosol
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CAMTA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of calcineurin-NFAT signaling cascade
- positive regulation of protein dephosphorylation
- positive regulation of transcription from RNA polymerase II promoter
- neuromuscular process controlling balance
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
- nucleolus
Molecular Function
What the gene product does at the molecular level
- transcription cofactor activity
- double-stranded DNA binding
- sequence-specific DNA binding