ID:CACO1_HUMAN DESCRIPTION: RecName: Full=Calcium-binding and coiled-coil domain-containing protein 1; AltName: Full=Calphoglin; AltName: Full=Coiled-coil coactivator protein; AltName: Full=Sarcoma antigen NY-SAR-3; FUNCTION: Functions as a coactivator for aryl hydrocarbon and nuclear receptors (NR). Recruited to promoters through its contact with the N-terminal basic helix-loop-helix-Per-Arnt-Sim (PAS) domain of transcription factors or coactivators, such as NCOA2. During ER-activation acts synergistically in combination with other NCOA2-binding proteins, such as EP300, CREBBP and CARM1. Involved in the transcriptional activation of target genes in the Wnt/CTNNB1 pathway. Functions as a secondary coactivator in LEF1- mediated transcriptional activation via its interaction with CTNNB1. Coactivator function for nuclear receptors and LEF1/CTNNB1 involves differential utilization of two different activation regions (By similarity). FUNCTION: Seems to enhance inorganic pyrphosphatase thus activating phosphogluomutase (PMG). Probably functions as component of the calphoglin complex, which is involved in linking cellular metabolism (phosphate and glucose metabolism) with other core functions including protein synthesis and degradation, calcium signaling and cell growth. SUBUNIT: Part of a calphoglin complex consisting of CALCOCO1, PPA1 and PGM. Interacts with the bHLH-PAS domains of GRIP1, AHR and ARNT. Interacts with CTNNB1 via both its N- and C-terminal regions. Interacts with EP300 (By similarity). SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Shuttles between nucleus and cytoplasm (By similarity). DOMAIN: The C-terminal activation region (AD) is used for downstream signaling. Seems to be essential for coactivator function with nuclear receptors and with the aryl hydrocarbon receptor (By similarity). DOMAIN: The N-terminal activation region (AD) is necessary and sufficient for synergistic activation of LEF1-mediated transcription by CTNNB1. Contains a EP3000 binding region which is important for synergistic cooperation (By similarity). DOMAIN: Recruitment by nuclear receptors is accomplished by the interaction of the coiled-coiled domain with p160 coactivators (By similarity). SIMILARITY: Belongs to the CALCOCO family. SEQUENCE CAUTION: Sequence=BAA96060.1; Type=Erroneous initiation;
Genetic Association Studies of Complex Diseases and Disorders
Biliary Atresia , Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2., Human molecular genetics.
Cholesterol, HDL Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics.
Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF07888 - Calcium binding and coiled-coil domain (CALCOCO1) like
ModBase Predicted Comparative 3D Structure on Q9P1Z2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.