CCDC144A
CCDC144A | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | CCDC144A, coiled-coil domain containing 144A | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | HomoloGene: 108248; GeneCards: CCDC144A; OMA:CCDC144A - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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]
Gene
[edit]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
[edit]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 isoelectric 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
[edit]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
[edit]![](http://upload.wikimedia.org/wikipedia/commons/thumb/0/0e/Unrooted_Phylogenetic_Tree_of_KIAA0565_and_Orthologous_Proteins.png/220px-Unrooted_Phylogenetic_Tree_of_KIAA0565_and_Orthologous_Proteins.png)
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.[23]
Potential Orthologs
[edit]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[9] |
CCDC 144A, Partial | Macaca mulatta | Rhesus monkey | 0 | 97 | 86 | EHH24608.1[9] |
ANKRD 26 | Pan troglodytes | Common chimpanzee | 2e-160 | 96 | 67 | JAA07196.1[9] |
ANKRD 26, Predicted | Dasypus novemcinctus | Nine-banded armadillo | 1e-158 | 96 | 65 | XP_004470808.1[9] |
ANKRD 26 | Myotis davidii | Mouse eared bat | 2e-154 | 96 | 64 | ELK35935.1[9] |
ANKRD 26 | Bos taurus | Cow | 2e-157 | 96 | 63 | NP_001107239.1[9] |
ANKRD 26 | Tupaia chinensis | Treeshrew | 3e-147 | 96 | 62 | ELW73004.1[9] |
ANKRD 26 | Cricetulus griseus | Chinese hamster | 1e-145 | 96 | 60 | EGW08323.1[9] |
ANKRD 26 | Heterocephalus glaber | Naked mole rat | 2e-138 | 96 | 59 | EHB01988.1[9] |
ANKRD 26 | Mus musculus | House mouse | 4e-141 | 96 | 57 | NP_001074581.1[9] |
ANKRD 26, Partial | Pteropus alecto | Black flying fox | 2e-171 | 97 | 51 | ELK03279.1[9] |
ANKRD 26-Like, Predicted | Ornithorhynchus anatinus | Platypus | 2e-108 | 96 | 51 | XP_001509663.2[9] |
ANKRD 26-Like, Predicted | Taeniopygia guttata | Zebra finch | 3e-88 | 92 | 45 | XP_004177264.1[9] |
ANKRD 26-Like, Predicted | Anolis carolinensis | Carolina anole | 2e-75 | 97 | 44 | XP_003221333.1[9] |
ANKRD 26, Predicted | Xenopus tropicalis | Western clawed frog | 2e-78 | 98 | 44 | XP_002935004.1[9] |
Unnamed Protein Product | Tetraodon nigroviridis | Pufferfish | 1e-28 | 98 | 34 | CAF98417.1[9] |
Clinical significance
[edit]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
[edit]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
[edit]This protein has been shown to have relatively low expression in all tissues.[29]
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000170160 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "NCBI: Gene".
- ^ "NeXtProt".
- ^ "NCBI".
- ^ "NCBI: Gene".
- ^ a b "GeneCards".
- ^ "GenBank: The Human Gene Compendium".
- ^ a b c d e f g h i j k l m n o p q r "NCBI: Protein".
- ^ a b "Biology Workbench".[permanent dead link]
- ^ a b c "PSORTII".
- ^ "SOSUI Hydrophobicity". Archived from the original on 2004-03-18. Retrieved 2013-05-11.
- ^ a b "ExPASy: SignalP".
- ^ "ExPASy: NetPhos".
- ^ "ExPASy: Sulfinator".
- ^ "ExPASy: SUMOplot".
- ^ "ExPASy: SUMOsp". Archived from the original on 2013-05-10. Retrieved 2013-05-11.
- ^ "ExPASy: Myristoylator".
- ^ "ExPASy: NetNGlyc".
- ^ "The European Bioinformatics Institute".
- ^ "MFOLD".
- ^ "PELE: Biology Workbench".
- ^ a b "BLASTp".
- ^ "NIH Rare Diseases".
- ^ a b c "Genetics Home Reference".
- ^ "Unified Medical Language System".
- ^ "MalaCards".
- ^ "Search Tool for the Retrieval of Interacting Genes/Proteins".
- ^ "GEO Profiles".
External links
[edit]- Human CCDC144A genome location and CCDC144A gene details page in the UCSC Genome Browser.