Coiled-coil domain-containing protein 144A is a protein that in humans is encoded by the CCDC144A gene.[1] An alias of this gene is called KIAA0565. There are four members of the CCDC family: CCDC 144A, 144B, 144C and putative CCDC 144 N-terminal like proteins.[2]
This gene has a nucleotide sequence that is 5140 bp long, and it encodes 641 amino acids.[3] It is found on the short arm, plus (forward) strand of chromosome 17 at p11.2.[4][5] The mRNA for the CCDC144A gene has 3 alternative splicing isoforms named A2RUR9-1, A2RUR9-2, AND A2RUR9-3, but there is no experimental confirmation available yet.[6]
Protein
This protein for this gene is also known as coiled coil domain containing 144A (CCDC144A) protein. It consists of 641 amino acids.[7] This protein weighs 75.8 kDa and has an isoelecric point of 6.357.[8] This protein localizes near the nucleus,[9] and is a soluble protein with a hydrophobicity of -1.021842.[10] This protein is also non-secretory[11] and has 10 potential serine and 3 potential threoninephosphorylation sites.[12] There are no tyrosinesulfation sites,[13] but there are a few potential sumoylation sites on this protein.[14][15] Also, this protein is predicted to be non-myristoylated[16] and does not contain a signal peptide.[11][17]
Structure
This protein has a domain of unknown function (DUF) 3496, which has been conserved in eukaryotes.[18] The DUF3496 domain is found from amino acids 547-622.[7]
CCDC144A, an alias of this gene, indicates that there should be a coiled coil domain within the protein. Coiled coils are structural motifs in proteins in which 2 more alpha helices are coiled together, and they usually contain a heptad repeat, hxxhcxc, or hydrophobic (h) and charge (c) amino acid residues.[5] The 5' and 3' untranslated regions of the nucleotide sequence of this gene are rich in stem-loop structures.[19] In place of a coiled coil, a leucine zipper was found.[9] Residues from 478-499, "LHNTRDALGRESLILERVQRDL", are the residues that form the leucine zipper pattern.[9] The structure of this protein consists of mostly alpha helices, with some random coils.[20]
This gene has been linked to Smith-Magenis Syndrome (SMS), which is also known as chromosome 17p11.2 deletion syndrome,[22] chromosome 17p deletion syndrome,[23] deletion 17p syndrome,[23] partial monosomy 17p,[23] and deletion abnormality.[24][25]
Interacting proteins
There may potentially be two proteins that interact with KIAA0565, and they are ubiquitin specific peptidase 32 (USP32) and ubiquitin specific peptidase 25 (USP25).[26]
Expression
This protein has been shown to have relatively low expression in all tissues.[27]
