CCDC47

5700367163ENSG00000108588ENSMUSG00000078622Q96A33Q9D024NM_020198NM_026009NP_064583NP_080285Coiled-coil domain 47 (CCDC47) is a gene located on human chromosome 17, specifically locus 17q23.3 which encodes for the protein PAT complex subunit CCDC47.

The function of the protein is unknown, but it has been proposed that CCDC47 is involved in calcium ion homeostasis and the endoplasmic reticulum overload response.

[5] The CCDC47 gene itself is located on the minus strand of human chromosome 17 and contains 13 exon splice sites and 14 distinct introns.

CREB binds to cAMP response elements thereby increasing or decreasing the transcription of downstream genes[14] while PAR bZIP family is involved in the regulation of circadian rhythms.

There is a strong stem loop located in the 5' UTR from bases 289-318 which likely is involved in regulation of the mRNA due to its close proximity to the start codon.

[19] In addition to the high levels of phosphorylation seen in CCDC47, three sulfation sites are predicted and conserved in mammals, reptiles and birds but not in fish, amphibians or invertebrates.

The gene has many orthologs extending back to invertebrates such as C. elegans and is highly conserved in mammals with a percent identity greater than 95%.

CCDC47 has been sequenced in a wide taxonomy of organisms including mammals, birds, reptiles, amphibians, bony fish and invertebrates.

Genomic location of CCDC47 at 17q23.3 [ 6 ]
PHYRE was able to predict with 76.1% confidence the C-terminus structure of CCDC47 from amino acids 396-473. This alpha helix structure is depicted above.
The CCDC47 protein construct, including the signal peptide, SEEEED superfamily, transmembrane domain and DUF1682.