C2D1A_HUMAN

Source: PM23856902
BSc_CH
PM22954596
Marked as 'Non-membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: CC2D1A , AKI1
Protein names and data: C2D1A_HUMAN , Coiled-coil and C2 domain-containing protein 1A , Akt kinase-interacting protein 1; Five prime repressor element under dual repression-binding protein 1; FRE under dual repression-binding protein 1; Freud-1; Putative NF-kappa-B-activating protein 023N Lenght: 951 a.a.
Mass: 104062 Da
fasta formatted sequence
Function: 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.
Disease:
Cellular location: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Genetic variants

Database cross-references

UniProt: Q6P1N0
Ensembl: ENST00000318003
Ensembl: ENST00000589606
MIM: 608443
MIM: 610055
neXtProt: NX_Q6P1N0
Antibodypedia: Q6P1N0 (may not find the protein thus also not any antibody)
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