C9orf152
| C9orf152 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | C9orf152, bA470J20.2, chromosome 9 open reading frame 152 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 2442889; HomoloGene: 52276; GeneCards: C9orf152; OMA:C9orf152 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Chromosome 9 open reading frame 152 is a protein that in humans is encoded by the C9orf152 gene.[5][6] The exact function of the protein is not completely understood.
Gene
The human gene C9orf152 is located on the long (q) arm of Chromosome 9.[7] Its cytogenetic location is 9q31.1. It has one known alias: bA470J20.2.[8]
The DNA sequence encoding C9orf152 contains a single intron.[7] The final mRNA consists of 2698 base pairs. Nucleotides 66-68 encode an upstream in frame stop codon.[5]
Evolution
C9orf152 has orthologs in mammals, birds, reptiles and amphibians. No orthologs have been detected in bony fish or in any invertebrates.[7][9] The following table lists a subset of conserved orthologs.
| Scientific name | Common name | Accession number | Sequence length (aa) | Percent identity | Percent similarity |
|---|---|---|---|---|---|
| Homo sapiens | Human | NP_001013011.2 | 239 | - | - |
| Pan troglodytes | Chimpanzee | XP_001145187 | 239 | 98 | 98 |
| Tarsius syrichta | Philippine tarsier | XP_008064367 | 237 | 78 | 85 |
| Ceratotherium simum simum | Rhinoceros | XP_004423784 | 239 | 78 | 82 |
| Sus scrofa | Wild boar | XP_003122117 | 239 | 74 | 83 |
| Equus caballus | Horse | XP_001491697 | 239 | 74 | 80 |
| Tursiops truncatus | Bottlenose dolphin | XP_004329084 | 234 | 73 | 81 |
| Heterocephalus glaber | Naked mole rat | XP_004903816 | 239 | 74 | 84 |
| Orcinus orca | Killer whale | XP_004269444 | 231 | 72 | 79 |
| Mus musculus | Mouse | NP_848842 | 236 | 62 | 72 |
| Rattus norvegicus | Rat | XP_003754080 | 234 | 62 | 70 |
| Chelonia mydas | Green sea turtle | XP_007059491 | 267 | 33 | 49 |
| Nestor notabilis | Kea | XP_010009525 | 265 | 34 | 49 |
| Python bivittatus | Burmese python | XP_007428415 | 234 | 30 | 44 |
| Meleagris gallopavo | Wild turkey | XP_010710660 | 267 | 29 | 43 |
| Pelodiscus sinensis | Chinese softshell turtle | XP_006120615 | 268 | 29 | 43 |
| Haliaeetus albicilla | White tailed eagle | XP_009911401 | 266 | 33 | 48 |
| Xenopus tropicalis | Western clawed frog | XP_004915565 | 226 | 31 | 45 |
Differences among shown orthologs suggest a slow rate of evolution.[10]
Protein
Chromosome 9 open reading frame 152 contains 239 amino acids. The molecular weight is 26.3 kilodaltons. The protein has a high chance of existing nuclear region of cells.[11] There are likely no transmembrane regions.[12] One isoform exists, containing 194 amino acids.[9][13]
Within the coding sequence, there are two sumoylation sites[14][15][16] and a single serine phosphorylation site.[17]
There are three regions predicted to form alpha helices on the final protein.[18][19]
Expression
C9orf152 is expressed in the bladder, intestine, mammary gland, and trachea and in smaller amounts in the lungs, liver, prostate, uterus, and brain.[20] Within the brain, expression of C9orf152 is limited to the olfactory bulb.[21] Gene expression was found to increase in the presence of stress, including disease and heat stress.[22]
A wide variety of transcription factors interact with the promoter of C9orf152, most notably two olfactory related factors (specifically, a neuron-specific olfactory factor and an olfactory associated zinc finger protein) and a negative glucocorticoid response element.[23]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000188959 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000052117 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "NCBI Gene". National Center of Biotechnology Information.
- ^ "Symbol Report: C9orf152". HUGO Gene Nomenclature Committee. Archived from the original on 2016-03-04. Retrieved 2018-03-23.
- ^ a b c "UCSC Genome Browser on Human Feb. 2009 (GRCh37/hg19) Assembly". Human BLAT Search. University of California Santa Cruz.
- ^ "Chromosome 9 Open Reading Frame 152". GeneCards.
- ^ a b "BLAST: Basic Local Alignment Search Tool". National Center for Biotechnology Information.
- ^ Hedges SB, Dudley J, Kumar S (Dec 2006). "TimeTree: a public knowledge-base of divergence times among organisms". Bioinformatics. 22 (23): 2971–2. doi:10.1093/bioinformatics/btl505. PMID 17021158.
- ^ "PSORTII". GenScript. Archived from the original on 6 September 2021. Retrieved 26 April 2015.
- ^ "SOSUI". Classification and Secondary Structure Prediction of Membrane Proteins.
- ^ "PREDICTED: uncharacterized protein C9orf152 isoform X1 [Homo sapiens]". National Center of Biotechnology Information.
- ^ "SUMOplot". ExPASy: SIB Bioinformatics Resource Portal. Retrieved 26 April 2015.
- ^ Zhao Q, Xie Y, Zheng Y, Jiang S, Liu W, Mu W, Liu Z, Zhao Y, Xue Y, Ren J (Jul 2014). "GPS-SUMO: a tool for the prediction of sumoylation sites and SUMO-interaction motifs". Nucleic Acids Research. 42 (Web Server issue): W325–30. doi:10.1093/nar/gku383. PMC 4086084. PMID 24880689.
- ^ Ren J, Gao X, Jin C, Zhu M, Wang X, Shaw A, Wen L, Yao X, Xue Y (Jun 2009). "Systematic study of protein sumoylation: Development of a site-specific predictor of SUMOsp 2.0". Proteomics. 9 (12): 3409–3412. doi:10.1002/pmic.200800646. PMID 19504496. S2CID 4900031.
- ^ "NetPhos 2.0 Server". ExPASy: SIB Bioinformatics Resource Portal. Retrieved 26 April 2015.
- ^ "PELE- Protein Structure Prediction". SDSC Biology WorkBench. Retrieved 26 April 2015.
- ^ Subramaniam S (Jul 1998). "The Biology Workbench--a seamless database and analysis environment for the biologist". Proteins. 32 (1): 1–2. doi:10.1002/(sici)1097-0134(19980701)32:1<1::aid-prot1>3.0.co;2-q. PMID 9672036. S2CID 1412129.
- ^ "Chromosome 9 open reading frame 152 (C9orf152)". National Center for Biotechnology Information. Retrieved 26 April 2015.
- ^ "D630039A03Rik - RP_040920_02_E06 - sagittal". Allen Brain Atlas.
- ^ "C9or152 - GEO Profiles". National Center of Biotechnology Information. Retrieved 26 April 2015.
- ^ "Genomatix - NGS Data Analysis & Personalized Medicine". Genomatix. Archived from the original on 24 February 2001. Retrieved 26 April 2015.
External links
- Human C9orf152 genome location and C9orf152 gene details page in the UCSC Genome Browser.