CALCOCO1
Description
The CALCOCO1 (calcium binding and coiled-coil domain 1) is a protein-coding gene located on chromosome 12.
Calcium-binding and coiled-coil domain-containing protein 1 is a protein that in humans is encoded by the CALCOCO1 gene.
CALCOCO1 acts as a coactivator for aryl hydrocarbon and nuclear receptors (NRs). It interacts with the N-terminal basic helix-loop-helix-Per-Arnt-Sim (PAS) domain of transcription factors or coactivators, like NCOA2, to recruit itself to promoters. During ER activation, CALCOCO1 works synergistically with other NCOA2-binding proteins, such as EP300, CREBBP, and CARM1. CALCOCO1 plays a role in activating target genes in the Wnt/CTNNB1 pathway. It functions as a secondary coactivator in LEF1-mediated transcriptional activation by interacting with CTNNB1. The coactivator function for nuclear receptors and LEF1/CTNNB1 relies on the use of two distinct activation regions. In conjunction with CCAR1, CALCOCO1 enhances GATA1- and MED1-mediated transcriptional activation from the gamma-globin promoter during erythroid differentiation of K562 erythroleukemia cells.
CALCOCO1 is also known as Cocoa, PP13275, calphoglin.
Associated Diseases
- retinitis pigmentosa
- snowflake vitreoretinal degeneration
- hypoparathyroidism, familial isolated, 2
- Bardet-Biedl syndrome
- birdshot chorioretinopathy
- Coats disease
- X-linked retinoschisis
- megalocornea
- cataract 50 with or without glaucoma
- Wagner disease
- isolated ectopia lentis
- MORM syndrome
