C9orf152

C9orf152
Identifiers
Aliases	C9orf152 , bA470J20.2, chromosome 9 open reading frame 152
External IDs	MGI: 2442889; HomoloGene: 52276; GeneCards: C9orf152; OMA:C9orf152 - orthologs
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9q31.3 Start 110,190,048 bp [1] End 110,208,159 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4|4 B3 Start 57,908,483 bp [2] End 57,916,297 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of ileum mucosa of sigmoid colon rectum mucosa of transverse colon pylorus bronchial epithelial cell pancreatic epithelial cell jejunal mucosa cardia lower lobe of lung Top expressed in Paneth cell left colon vestibular membrane of cochlear duct otolith organ utricle lacrimal gland prostate lobe of prostate submandibular gland parotid gland More reference expression data BioGPS n/a
Orthologs Species Human Mouse 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 Mb Chr 4: 57.91 – 57.92 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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

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

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

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

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.^{[ dead link ]}
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.

External links

• Human C9orf152 genome location and C9orf152 gene details page in the UCSC Genome Browser .