C9orf152

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.

C9orf152
Identifiers
AliasesC9orf152, bA470J20.2, chromosome 9 open reading frame 152
External IDsMGI: 2442889; HomoloGene: 52276; GeneCards: C9orf152; OMA:C9orf152 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

401546

242484

Ensembl

ENSG00000188959

ENSMUSG00000052117

UniProt

Q5JTZ5

Q8K0M7

RefSeq (mRNA)

NM_001012993

NM_178727

RefSeq (protein)

NP_001013011
NP_001013011.2

NP_848842

Location (UCSC)Chr 9: 110.19 – 110.21 MbChr 4: 57.91 – 57.92 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 nameCommon nameAccession numberSequence length (aa)Percent identityPercent similarity
Homo sapiensHumanNP_001013011.2239--
Pan troglodytesChimpanzeeXP_0011451872399898
Tarsius syrichtaPhilippine tarsierXP_0080643672377885
Ceratotherium simum simumRhinocerosXP_0044237842397882
Sus scrofaWild boarXP_0031221172397483
Equus caballusHorseXP_0014916972397480
Tursiops truncatusBottlenose dolphinXP_0043290842347381
Heterocephalus glaberNaked mole ratXP_0049038162397484
Orcinus orcaKiller whaleXP_0042694442317279
Mus musculusMouseNP_8488422366272
Rattus norvegicusRatXP_0037540802346270
Chelonia mydasGreen sea turtleXP_0070594912673349
Nestor notabilisKeaXP_0100095252653449
Python bivittatusBurmese pythonXP_0074284152343044
Meleagris gallopavoWild turkeyXP_0107106602672943
Pelodiscus sinensisChinese softshell turtleXP_0061206152682943
Haliaeetus albicillaWhite tailed eagleXP_0099114012663348
Xenopus tropicalisWestern clawed frogXP_0049155652263145

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
  1. GRCh38: Ensembl release 89: ENSG00000188959 – Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000052117 – Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "NCBI Gene". National Center of Biotechnology Information.
  6. "Symbol Report: C9orf152". HUGO Gene Nomenclature Committee. Archived from the original on 2016-03-04. Retrieved 2018-03-23.
  7. "UCSC Genome Browser on Human Feb. 2009 (GRCh37/hg19) Assembly". Human BLAT Search. University of California Santa Cruz.
  8. "Chromosome 9 Open Reading Frame 152". GeneCards.
  9. "BLAST: Basic Local Alignment Search Tool". National Center for Biotechnology Information.
  10. 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.
  11. "PSORTII". GenScript. Archived from the original on 6 September 2021. Retrieved 26 April 2015.
  12. "SOSUI". Classification and Secondary Structure Prediction of Membrane Proteins.
  13. "PREDICTED: uncharacterized protein C9orf152 isoform X1 [Homo sapiens]". National Center of Biotechnology Information.
  14. "SUMOplot". ExPASy: SIB Bioinformatics Resource Portal. Retrieved 26 April 2015.
  15. 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.
  16. 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.
  17. "NetPhos 2.0 Server". ExPASy: SIB Bioinformatics Resource Portal. Retrieved 26 April 2015.
  18. "PELE- Protein Structure Prediction". SDSC Biology WorkBench. Retrieved 26 April 2015.
  19. 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.
  20. "Chromosome 9 open reading frame 152 (C9orf152)". National Center for Biotechnology Information. Retrieved 26 April 2015.
  21. "D630039A03Rik - RP_040920_02_E06 - sagittal". Allen Brain Atlas.
  22. "C9or152 - GEO Profiles". National Center of Biotechnology Information. Retrieved 26 April 2015.
  23. "Genomatix - NGS Data Analysis & Personalized Medicine". Genomatix. Archived from the original on 24 February 2001. Retrieved 26 April 2015.
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