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C9orf152

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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

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

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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]

The exact location of C9orf152 alongside the closest genetic neighbors.

Evolution

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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

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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

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Expression of C9orf152 in the brain of a mouse via Allen Brain Atlas. The only area of high expression is the dark purple on the left, which is located in the olfactory bulb.

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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000188959 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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. ^ a b c "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. ^ a b "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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