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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:
1) binds specifically to the FRE (five repressor element) & represses HTR1A gene transcription in neuronal cell
- C2 domain is required for repression
2) combination of Ca+2 & ATP specifically inactivates binding with FRE
3) mediates HDAC-independent repression of HTR1A promoter in neuronal cells
Structure:
- contains 1 C2 domain
Compartment: cytoplasm, nucleus
Alternative splicing: named isoforms=3
Pathology:
1) role in altered regulation of HTR1A associated with anxiety & major depression
2) defects in CC2D1A are the cause of autosomal recessive nonsyndromic mental retardation 3
General
coiled-coil & C2 domain-containing protein (CC2D)
phosphoprotein
transcription factor (TF)
Properties
SIZE: MW = 104 kD
entity length = 951 aa
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: proline-rich region
SITE: 192-345
MOTIF: proline residue (SEVERAL)
Tyr phosphorylation site {Y207}
Ser phosphorylation site {S208}
coiled coil {346-392}
coiled coil {484-517}
C2 domain {642-755}
MOTIF: binding site
FOR-BINDING-OF: phospholipid
Ca+2-binding site
Database Correlations
OMIM 608443
UniProt Q6P1N0
Pfam PF00168
References
UniProt :accession Q6P1N0