CC2D1A Gene Summary [Human]
This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in a nonsyndromic form of cognitive disability (MRT3). [provided by RefSeq, Jul 2017]
Details
| Type | Protein Coding |
| Official Symbol | CC2D1A |
| Official Name | coiled-coil and C2 domain containing 1A [Source:HGNC Symbol;Acc:HGNC:30237] |
| Ensembl ID | ENSG00000132024 |
| Bio databases IDs | |
| Aliases | coiled-coil and C2 domain containing 1A, mental retardation, nonsyndromic, autosomal recessive, 3, Five prime repressor element under dual repression-binding protein 1, lethal (2) giant discs homolog 2, TBK1-associated protein in endolysosomes, Akt Kinase-Interacting Protein 1 |
| Synonyms | Aki-1, coiled-coil and C2 domain containing 1A, FREUD-1, Freud-1/Aki1, Lgd2, MRT3, RGD1306108, TAPE |
| 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 CC2D1A 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
- DM14 domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
- 4-helix bundle ligand binding sensor domain of chemoreceptors such as Tar or Tsr
- nucleic acid binding
- double-stranded DNA binding
- protein binding
- sequence-specific DNA binding
- Protein kinase C conserved region 2 (CalB)
- C2 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
- epithelial cancer
- epithelial neoplasia
- autosomal recessive mental retardation type 3
- autism
- dyspnea
- hypothermia
- hereditary disorder
- mental retardation
- ciliopathy
role in cell
- expression in
- activity
- phosphorylation in
- activation in
- production in
- cell cycle progression
- function
- cell viability
- abnormal morphology
- 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.
- Cytoplasm
- glutaminergic synapse
- fibrillar center
- Nucleus
- Plasma Membrane
- basal bodies
- cytosol
- endosomal membrane
- synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CC2D1A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- endosome organization
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- regulation of respiratory gaseous exchange by neurological system process
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- centrosome
- extracellular vesicular exosome
- membrane
- cytosol
- endosome membrane
- plasma membrane
- fibrillar center
Molecular Function
What the gene product does at the molecular level
- protein binding
- cadherin binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity