coiled-coil & C2 domain-containing protein 1A (Five repressor element under dual repression-binding protein 1, FRE under dual repression-binding protein 1, Freud-1, NF-kappa-B-activating protein 023N, CC2D1A)

Function

• binds specifically to the FRE (five repressor element) & represses HTR1A gene transcription in neuronal cell
  • C2 domain is required for repression
• combination of Ca+2 & ATP specifically inactivates binding with FRE
• mediates HDAC-independent repression of HTR1A promoter in neuronal cells

Structure

• contains 1 C2 domain

Compartment

cytoplasm, nucleus

Alternative splicing

named isoforms=3

Pathology

• role in altered regulation of HTR1A associated with anxiety & major depression
• defects in CC2D1A are the cause of autosomal recessive nonsyndromic mental retardation 3

More general terms

• transcription factor (TF)
• phosphoprotein
• coiled-coil & C2 domain-containing protein (CC2D)

Database

• OMIM: https://mirror.omim.org/entry/608443
• UniProt: http://www.uniprot.org/uniprot/Q6P1N0.html