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]
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 isoelectric 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 threonine phosphorylation sites.[12] There are no tyrosine sulfation 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.[17]
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.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. 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. Residues from 478-499, "LHNTRDALGRESLILERVQRDL", are the residues that form the leucine zipper pattern. The structure of this protein consists of mostly alpha helices, with some random coils.[20]
| Number | Species | |
|---|---|---|
| 1 | Nine-banded armadillo | |
| 2 | Cow | |
| 3 | Flying fox | |
| 4 | Mouse eared bat | |
| 5 | Chimpanzee | |
| 6 | Treeshrew | |
| 7 | House mouse | |
| 8 | Chinese hamster | |
| 9 | Naked mole rat | |
| 10 | Rhesus monkey | |
| 11 | Crab-eating macaque | |
| 12 | Human KIAA0565 | |
| 13 | Platypus | |
| 14 | Western clawed frog | |
| 15 | Pufferfish | |
| 16 | Carolina anole | |
| 17 | Zebra finch |
Orthologs of KIAA0565 protein have been identified mostly in mammals, but some birds, reptiles, amphibians, and fish as well.[21]
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, partial monosomy 17p, and deletion abnormality.[24] [25]
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]
This protein has been shown to have relatively low expression in all tissues.[27]