CCDC144A

This gene has a nucleotide sequence that is 5140 bp long, and it encodes 641 amino acids.{{cite web|title=NCBI|url=http://blast.ncbi.nlm.nih.gov/Blast.cgi}} It is found on the short arm, plus (forward) strand of chromosome 17 at p11.2.{{cite web|title=NCBI: Gene|url=https://www.ncbi.nlm.nih.gov/gene?term=(ccdc144a[gene])%20AND%20(Homo%20sapiens[orgn])%20AND%20alive[prop]%20NOT%20newentry[gene]&sort=weight}}{{cite web|title=GeneCards|url=https://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC144A&search=CCDC+144A}} 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.{{cite web|title=GenBank: The Human Gene Compendium|url=https://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC144A&search=ccdc144a}}

This protein for this gene is also known as coiled coil domain containing 144A (CCDC144A) protein. It consists of 641 amino acids.{{cite web|title=NCBI: Protein|url=https://www.ncbi.nlm.nih.gov/protein/6683717}} This protein weighs 75.8 kDa and has an isoelectric point of 6.357.{{cite web|title=Biology Workbench |url=http://seqtool.sdsc.edu/CGI/BW.cgi#! }}{{dead link|date=November 2016 |bot=InternetArchiveBot |fix-attempted=yes }} This protein localizes near the nucleus,{{cite web|title=PSORTII|url=http://psort.hgc.jp/form2.html}} and is a soluble protein with a hydrophobicity of -1.021842.{{cite web|title=SOSUI Hydrophobicity|url=http://bp.nuap.nagoya-u.ac.jp/sosui/|access-date=2013-05-11|archive-url=https://web.archive.org/web/20040318022546/http://bp.nuap.nagoya-u.ac.jp/sosui/|archive-date=2004-03-18|url-status=dead}} This protein is also non-secretory{{cite web|title=ExPASy: SignalP|url=http://www.cbs.dtu.dk/services/SignalP/}} and has 10 potential serine and 3 potential threonine phosphorylation sites.{{cite web|title=ExPASy: NetPhos|url=http://www.cbs.dtu.dk/services/NetPhos/}} There are no tyrosine sulfation sites,{{cite web|title=ExPASy: Sulfinator|url=http://web.expasy.org/sulfinator/}} but there are a few potential sumoylation sites on this protein.{{cite web|title=ExPASy: SUMOplot|url=http://www.abgent.com/sumoplot}}{{cite web|title=ExPASy: SUMOsp|url=http://sumosp.biocuckoo.org/|access-date=2013-05-11|archive-date=2013-05-10|archive-url=https://web.archive.org/web/20130510131129/http://sumosp.biocuckoo.org/|url-status=dead}} Also, this protein is predicted to be non-myristoylated{{cite web|title=ExPASy: Myristoylator|url=http://web.expasy.org/myristoylator/}} and does not contain a signal peptide.{{cite web|title=ExPASy: NetNGlyc|url=http://www.cbs.dtu.dk/services/NetNGlyc/}}

This protein has a domain of unknown function (DUF) 3496, which has been conserved in eukaryotes.{{cite web|title=The European Bioinformatics Institute|url=http://www.ebi.ac.uk/}} 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.{{cite web|title=MFOLD|url=http://mfold.rna.albany.edu/?q=mfold/faq}} 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.{{cite web|title=PELE: Biology Workbench|url=http://workbench.sdsc.edu/}}

File:Unrooted Phylogenetic Tree of KIAA0565 and Orthologous Proteins.png displaying orthologs of CCDC144A.]]

Orthologs of KIAA0565 protein have been identified mostly in mammals, but some birds, reptiles, amphibians, and fish as well.{{cite web|title=BLASTp|url=http://blast.ncbi.nlm.nih.gov/Blast.cgi?PROGRAM=blastp&BLAST_PROGRAMS=blastp&PAGE_TYPE=BlastSearch&SHOW_DEFAULTS=on&LINK_LOC=blasthome}}

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This gene has been linked to Smith-Magenis Syndrome (SMS), which is also known as chromosome 17p11.2 deletion syndrome,{{cite web|title=NIH Rare Diseases|url=http://rarediseases.info.nih.gov/}} chromosome 17p deletion syndrome,{{cite web|title=Genetics Home Reference|url=http://ghr.nlm.nih.gov/}} deletion 17p syndrome, partial monosomy 17p, and deletion abnormality.{{cite web|title=Unified Medical Language System|url=https://www.nlm.nih.gov/research/umls/}}{{cite web|title=MalaCards|url=http://www.malacards.org/card/smith_magenis_syndrome}}

There may potentially be two proteins that interact with KIAA0565, and they are ubiquitin specific peptidase 32 (USP32) and ubiquitin specific peptidase 25 (USP25).{{cite web|title=Search Tool for the Retrieval of Interacting Genes/Proteins|url=http://string-db.org/}}

This protein has been shown to have relatively low expression in all tissues.{{cite web|title=GEO Profiles|url=https://www.ncbi.nlm.nih.gov/geoprofiles/4695417}}

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• {{UCSC gene info|CCDC144A}}