CCDC144A

Coiled-coil domain-containing protein 144A is a protein that in humans is encoded by the CCDC144A gene.[3] 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.[4]

CCDC144A
Identifiers
AliasesCCDC144A, coiled-coil domain containing 144A
External IDsHomoloGene: 108248 GeneCards: CCDC144A
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17p11.2Start16,689,537 bp[1]
End16,777,881 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

9720

n/a

Ensembl

ENSG00000170160

n/a

UniProt

A2RUR9

n/a

RefSeq (mRNA)

NM_014695

n/a

RefSeq (protein)

NP_055510

n/a

Location (UCSC)Chr 17: 16.69 – 16.78 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Gene

This gene has a nucleotide sequence that is 5140 bp long, and it encodes 641 amino acids.[5] It is found on the short arm, plus (forward) strand of chromosome 17 at p11.2.[6][7] 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.[8]

Protein

This protein for this gene is also known as coiled coil domain containing 144A (CCDC144A) protein. It consists of 641 amino acids.[9] This protein weighs 75.8 kDa and has an isoelecric point of 6.357.[10] This protein localizes near the nucleus,[11] and is a soluble protein with a hydrophobicity of -1.021842.[12] This protein is also non-secretory[13] and has 10 potential serine and 3 potential threonine phosphorylation sites.[14] There are no tyrosine sulfation sites,[15] but there are a few potential sumoylation sites on this protein.[16][17] Also, this protein is predicted to be non-myristoylated[18] and does not contain a signal peptide.[13][19]

Structure

This protein has a domain of unknown function (DUF) 3496, which has been conserved in eukaryotes.[20] The DUF3496 domain is found from amino acids 547-622.[9] 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.[7] The 5' and 3' untranslated regions of the nucleotide sequence of this gene are rich in stem-loop structures.[21] In place of a coiled coil, a leucine zipper was found.[11] Residues from 478-499, "LHNTRDALGRESLILERVQRDL", are the residues that form the leucine zipper pattern.[11] The structure of this protein consists of mostly alpha helices, with some random coils.[22]

Evolution
Phylogenetic tree displaying orthologs of CCDC144A.[10]
NumberSpecies
1Nine-banded armadillo
2Cow
3Flying fox
4Mouse eared bat
5Chimpanzee
6Treeshrew
7House mouse
8Chinese hamster
9Naked mole rat
10Rhesus monkey
11Crab-eating macaque
12Human KIAA0565
13Platypus
14Western clawed frog
15Pufferfish
16Carolina anole
17Zebra finch

Orthologs of KIAA0565 protein have been identified mostly in mammals, but some birds, reptiles, amphibians, and fish as well.[23]

Potential Orthologs
Protein nameGenus and speciesCommon nameOrtholog spaceQuery cover (%)Max identity (%)Accession number
CCDC 144AMacaca fasicularisCrab-eating macaque09786EHH57800.1[9]
CCDC 144A, PartialMacaca mulattaRhesus monkey09786EHH24608.1[9]
ANKRD 26Pan troglodytesCommon chimpanzee2e-1609667JAA07196.1[9]
ANKRD 26, PredictedDasypus novemcinctusNine-banded armadillo1e-1589665XP_004470808.1[9]
ANKRD 26Myotis davidiiMouse eared bat2e-1549664ELK35935.1[9]
ANKRD 26Bos taurusCow2e-1579663NP_001107239.1[9]
ANKRD 26Tupaia chinensisTreeshrew3e-1479662ELW73004.1[9]
ANKRD 26Cricetulus griseusChinese hamster1e-1459660EGW08323.1[9]
ANKRD 26Heterocephalus glaberNaked mole rat2e-1389659EHB01988.1[9]
ANKRD 26Mus musculusHouse mouse4e-1419657NP_001074581.1[9]
ANKRD 26, PartialPteropus alectoBlack flying fox2e-1719751ELK03279.1[9]
ANKRD 26-Like, PredictedOrnithorhynchus anatinusPlatypus2e-1089651XP_001509663.2[9]
ANKRD 26-Like, PredictedTaeniopygia guttataZebra finch3e-889245XP_004177264.1[9]
ANKRD 26-Like, PredictedAnolis carolinensisCarolina anole2e-759744XP_003221333.1[9]
ANKRD 26, PredictedXenopus tropicalisWestern clawed frog2e-789844XP_002935004.1[9]
Unnamed Protein ProductTetraodon nigroviridisPufferfish1e-289834CAF98417.1[9]

[23]

Clinical significance

This gene has been linked to Smith-Magenis Syndrome (SMS), which is also known as chromosome 17p11.2 deletion syndrome,[24] chromosome 17p deletion syndrome,[25] deletion 17p syndrome,[25] partial monosomy 17p,[25] and deletion abnormality.[26][27]

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).[28]

Expression

This protein has been shown to have relatively low expression in all tissues.[29]

References
  1. GRCh38: Ensembl release 89: ENSG00000170160 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "NCBI: Gene".
  4. "NeXtProt".
  5. "NCBI".
  6. "NCBI: Gene".
  7. "GeneCards".
  8. "GenBank: The Human Gene Compendium".
  9. "NCBI: Protein".
  10. "Biology Workbench".
  11. "PSORTII".
  12. "SOSUI Hydrophobicity". Archived from the original on 2004-03-18. Retrieved 2013-05-11.
  13. "ExPASy: SignalP".
  14. "ExPASy: NetPhos".
  15. "ExPASy: Sulfinator".
  16. "ExPASy: SUMOplot".
  17. "ExPASy: SUMOsp".
  18. "ExPASy: Myristoylator".
  19. "ExPASy: NetNGlyc".
  20. "The European Bioinformatics Institute".
  21. "MFOLD".
  22. "PELE: Biology Workbench".
  23. "BLASTp".
  24. "NIH Rare Diseases".
  25. "Genetics Home Reference".
  26. "Unified Medical Language System".
  27. "MalaCards".
  28. "Search Tool for the Retrieval of Interacting Genes/Proteins".
  29. "GEO Profiles".
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