CC2D1A gene

coiled-coil and C2 domain containing 1A

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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 nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009]

From UniProt:

Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its localization. When cytoplasmic, acts as a scaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when nuclear. In the centrosome, regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis.

From NCBI Gene:

  • Mental retardation, autosomal recessive 3

From UniProt:

Mental retardation, autosomal recessive 3 (MRT3): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs. [MIM:608443]

Cytogenetic Location: 19p13.12, which is the short (p) arm of chromosome 19 at position 13.12

Molecular Location: base pairs 13,906,143 to 13,930,880 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19p13.12, which is the short (p) arm of chromosome 19 at position 13.12
  • FREUD-1
  • Freud-1/Aki1
  • MRT3