C9orf152 Explained

Chromosome 9 open reading frame 152 is a protein that in humans is encoded by the C9orf152 gene.[1] [2] 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.[3] Its cytogenetic location is 9q31.1. It has one known alias: bA470J20.2.[4] The DNA sequence encoding C9orf152 contains a single intron. The final mRNA consists of 2698 base pairs. Nucleotides 66-68 encode an upstream in frame stop codon.

Evolution

C9orf152 has orthologs in mammals, birds, reptiles and amphibians. No orthologs have been detected in bony fish or in any invertebrates.[5] The following table lists a subset of conserved orthologs.

Scientific name Common name Accession number Sequence length (aa) Percent identity Percent similarity
Human NP_001013011.2 239 - -
Chimpanzee XP_001145187 239 98 98
Philippine tarsier XP_008064367 237 78 85
Rhinoceros XP_004423784 239 78 82
Wild boar XP_003122117 239 74 83
Horse XP_001491697 239 74 80
Bottlenose dolphin XP_004329084 234 73 81
Naked mole rat XP_004903816 239 74 84
Killer whale XP_004269444 231 72 79
Mouse NP_848842 236 62 72
Rat XP_003754080 234 62 70
Green sea turtleXP_007059491 267 33 49
Kea XP_010009525 265 34 49
Burmese python XP_007428415 234 30 44
Wild turkey XP_010710660 267 29 43
Chinese softshell turtle XP_006120615 268 29 43
White tailed eagle XP_009911401 266 33 48
Western clawed frog XP_004915565 226 31 45

Differences among shown orthologs suggest a slow rate of evolution.[6]

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.[7] There are likely no transmembrane regions.[8] One isoform exists, containing 194 amino acids.[9]

Within the coding sequence, there are two sumoylation sites[10] [11] [12] and a single serine phosphorylation site.[13]

There are three regions predicted to form alpha helices on the final protein.[14] [15]

Expression

C9orf152 is expressed in the bladder, intestine, mammary gland, and trachea and in smaller amounts in the lungs, liver, prostate, uterus, and brain.[16] Within the brain, expression of C9orf152 is limited to the olfactory bulb.[17] Gene expression was found to increase in the presence of stress, including disease and heat stress.[18]

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.[19]

Notes and References

  1. Web site: NCBI Gene. National Center of Biotechnology Information.
  2. Web site: Symbol Report: C9orf152. HUGO Gene Nomenclature Committee. 2018-03-23. 2016-03-04. https://web.archive.org/web/20160304204735/http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:31455. dead.
  3. Web site: UCSC Genome Browser on Human Feb. 2009 (GRCh37/hg19) Assembly. Human BLAT Search. University of California Santa Cruz.
  4. Web site: Chromosome 9 Open Reading Frame 152. GeneCards.
  5. Web site: BLAST: Basic Local Alignment Search Tool. National Center for Biotechnology Information.
  6. Hedges SB, Dudley J, Kumar S . TimeTree: a public knowledge-base of divergence times among organisms . Bioinformatics . 22 . 23 . 2971–2 . Dec 2006 . 17021158 . 10.1093/bioinformatics/btl505 . free .
  7. Web site: PSORTII. GenScript. 26 April 2015. PSORTII. 6 September 2021. https://web.archive.org/web/20210906185147/https://www.genscript.com/psort/psort2.html. dead.
  8. Web site: SOSUI. Classification and Secondary Structure Prediction of Membrane Proteins.
  9. Web site: PREDICTED: uncharacterized protein C9orf152 isoform X1 [Homo sapiens]]. National Center of Biotechnology Information.
  10. Web site: SUMOplot. ExPASy: SIB Bioinformatics Resource Portal. 26 April 2015. SUMOplot at ExPASy.
  11. Zhao Q, Xie Y, Zheng Y, Jiang S, Liu W, Mu W, Liu Z, Zhao Y, Xue Y, Ren J . GPS-SUMO: a tool for the prediction of sumoylation sites and SUMO-interaction motifs . Nucleic Acids Research . 42 . Web Server issue . W325–30 . Jul 2014 . 24880689 . 10.1093/nar/gku383 . 4086084.
  12. Ren J, Gao X, Jin C, Zhu M, Wang X, Shaw A, Wen L, Yao X, Xue Y . Systematic study of protein sumoylation: Development of a site-specific predictor of SUMOsp 2.0 . Proteomics . 9 . 12 . 3409–3412 . Jun 2009 . 19504496 . 10.1002/pmic.200800646 . 4900031 .
  13. Web site: NetPhos 2.0 Server. ExPASy: SIB Bioinformatics Resource Portal. 26 April 2015. NetPhos at ExPASy.
  14. Web site: PELE- Protein Structure Prediction. SDSC Biology WorkBench. 26 April 2015. SDSC WorkBench.
  15. Subramaniam S . The Biology Workbench--a seamless database and analysis environment for the biologist . Proteins . 32 . 1 . 1–2 . Jul 1998 . 9672036 . 10.1002/(sici)1097-0134(19980701)32:1<1::aid-prot1>3.0.co;2-q. 1412129 .
  16. Web site: Chromosome 9 open reading frame 152 (C9orf152). National Center for Biotechnology Information. 26 April 2015. NCBI - UniGene.
  17. Web site: D630039A03Rik - RP_040920_02_E06 - sagittal. Allen Brain Atlas. Allen Brain Atlas.
  18. Web site: C9or152 - GEO Profiles. National Center of Biotechnology Information. 26 April 2015. NCBI GEO Profiles.
  19. Web site: Genomatix - NGS Data Analysis & Personalized Medicine. Genomatix. 26 April 2015. Genomatix. 24 February 2001. https://web.archive.org/web/20010224072831/http://www.genomatix.de/. dead.

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