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== Gene ==
== Gene ==


This gene has a nucleotide sequence that is 5140 bp long, and it encodes 641 amino acids.<ref name=NCBI>{{cite web|title=NCBI|url=http://blast.ncbi.nlm.nih.gov/Blast.cgi}}</ref>  It is found on the short arm, plus (forward) strand of chromosome 17 at p11.2.<ref>{{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}}</ref><ref name=GeneCards>{{cite web|title=GeneCards|url=http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC144A&search=CCDC+144A}}</ref>  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.<ref name="GenBank: The Human Gene Compendium">{{cite web|title=GenBank: The Human Gene Compendium|url=http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC144A&search=ccdc144a}}</ref>
This gene has a nucleotide sequence that is 5140 bp long, and it encodes 641 amino acids.<ref name=NCBI>{{cite web|title=NCBI|url=http://blast.ncbi.nlm.nih.gov/Blast.cgi}}</ref>  It is found on the short arm, plus (forward) strand of chromosome 17 at p11.2.<ref>{{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}}</ref><ref name=GeneCards>{{cite web|title=GeneCards|url=https://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC144A&search=CCDC+144A}}</ref>  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.<ref name="GenBank: The Human Gene Compendium">{{cite web|title=GenBank: The Human Gene Compendium|url=https://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC144A&search=ccdc144a}}</ref>


== Protein ==
== Protein ==


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


===Structure===
===Structure===
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== Clinical significance ==
== Clinical significance ==


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


=== Interacting proteins ===
=== Interacting proteins ===

Latest revision as of 15:57, 15 November 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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]

Gene

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 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.[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]

Evolution

File:Unrooted Phylogenetic Tree of KIAA0565 and Orthologous Proteins.png
Phylogenetic tree displaying orthologs of CCDC144A.[8]
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]

Potential Orthologs

Protein name Genus and species Common name Ortholog space Query cover (%) Max identity (%) Accession number
CCDC 144A Macaca fasicularis Crab-eating macaque 0 97 86 EHH57800.1[7]
CCDC 144A, Partial Macaca mulatta Rhesus monkey 0 97 86 EHH24608.1[7]
ANKRD 26 Pan troglodytes Common chimpanzee 2e-160 96 67 JAA07196.1[7]
ANKRD 26, Predicted Dasypus novemcinctus Nine-banded armadillo 1e-158 96 65 XP_004470808.1[7]
ANKRD 26 Myotis davidii Mouse eared bat 2e-154 96 64 ELK35935.1[7]
ANKRD 26 Bos taurus Cow 2e-157 96 63 NP_001107239.1[7]
ANKRD 26 Tupaia chinensis Treeshrew 3e-147 96 62 ELW73004.1[7]
ANKRD 26 Cricetulus griseus Chinese hamster 1e-145 96 60 EGW08323.1[7]
ANKRD 26 Heterocephalus glaber Naked mole rat 2e-138 96 59 EHB01988.1[7]
ANKRD 26 Mus musculus House mouse 4e-141 96 57 NP_001074581.1[7]
ANKRD 26, Partial Pteropus alecto Black flying fox 2e-171 97 51 ELK03279.1[7]
ANKRD 26-Like, Predicted Ornithorhynchus anatinus Platypus 2e-108 96 51 XP_001509663.2[7]
ANKRD 26-Like, Predicted Taeniopygia guttata Zebra finch 3e-88 92 45 XP_004177264.1[7]
ANKRD 26-Like, Predicted Anolis carolinensis Carolina anole 2e-75 97 44 XP_003221333.1[7]
ANKRD 26, Predicted Xenopus tropicalis Western clawed frog 2e-78 98 44 XP_002935004.1[7]
Unnamed Protein Product Tetraodon nigroviridis Pufferfish 1e-28 98 34 CAF98417.1[7]

[21]

Clinical significance

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]

References

  1. ↑ "NCBI: Gene".
  2. ↑ "NeXtProt".
  3. ↑ "NCBI".
  4. ↑ "NCBI: Gene".
  5. ↑ 5.0 5.1 "GeneCards".
  6. ↑ "GenBank: The Human Gene Compendium".
  7. ↑ 7.00 7.01 7.02 7.03 7.04 7.05 7.06 7.07 7.08 7.09 7.10 7.11 7.12 7.13 7.14 7.15 7.16 7.17 "NCBI: Protein".
  8. ↑ 8.0 8.1 "Biology Workbench".[permanent dead link]
  9. ↑ 9.0 9.1 9.2 "PSORTII".
  10. ↑ "SOSUI Hydrophobicity". Archived from the original on 2004-03-18. Retrieved 2013-05-11.
  11. ↑ 11.0 11.1 "ExPASy: SignalP".
  12. ↑ "ExPASy: NetPhos".
  13. ↑ "ExPASy: Sulfinator".
  14. ↑ "ExPASy: SUMOplot".
  15. ↑ "ExPASy: SUMOsp".
  16. ↑ "ExPASy: Myristoylator".
  17. ↑ "ExPASy: NetNGlyc".
  18. ↑ "The European Bioinformatics Institute".
  19. ↑ "MFOLD".
  20. ↑ "PELE: Biology Workbench".
  21. ↑ 21.0 21.1 "BLASTp".
  22. ↑ "NIH Rare Diseases".
  23. ↑ 23.0 23.1 23.2 "Genetics Home Reference".
  24. ↑ "Unified Medical Language System".
  25. ↑ "MalaCards".
  26. ↑ "Search Tool for the Retrieval of Interacting Genes/Proteins".
  27. ↑ "GEO Profiles".

External links

Retrieved from "https://www.wikidoc.org/index.php?title=CCDC144A&oldid=1529318"