| C11orf52 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | C11orf52, chromosome 11 open reading frame 52 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1914202 HomoloGene: 12059 GeneCards: C11orf52 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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C11orf52 is an uncharacterized protein that in homo sapiens is encoded by the C11orf52 gene.
Gene
Location
C11orf52 is located on chromosome 11 at 11q23.1, starting at 111908620 and ending at 112064278.[5] C11orf52 spans 155658 base pairs and is orientated on the positive strand. Gene C11orf52 has a molecular weight of 14kDa and is a protein coding gene of 7,995 bp containing four exons. The coding region is made up of 1,168 bp.[6]
Gene neighborhood
Genes HSPB2, CRYAB, OLAT, and PPIHP1 neighbor C11orf52 on chromosome 11.
Expression
C11orf52 is highly expressed in the thyroid, thalmus, pituitary, placenta, and prostate, kidney, heart, and skeletal muscles.[7] However, in estrogen receptor alpha-silenced MCF-7 breast cancer cells, it is expressed at an extremely low level compared to control tissues.[8]
Transcript
There is only one variant of C11orf52 RNA. The mRNA sequence is 1,140 base pairs long.[6] There is an upstream stop codon located at nucleotides 65 – 67. The 23rd amino acid varies between threonine and arginine.[6]
Protein
The 123 amino acid chain is a domain of unknown function.[9] It has a molecular weight of 13,9 kDal and a predicted Isoelectric Point of 9.74 [6] C11orf52 is predicted to be targeted to the nucleus.
There are no isoforms of the protein encoded by C11orf52.
Structure
The LYS19-22 region is an external domain of the protein structure.[6]
Homology
Orthologs
There is only one member of the C11orf52 gene family and no splice isoforms can be found going back to Geospiza fortis - the most distantly related to Homo Sapiens C11orf52 sequence. Gene duplication first occurred approximately 324.5 million years ago in reptiles and birds. There are no paralogs for the C11orf52 gene.
| Species | Common Name | Accession # | Sequence Length | mRNA Identity % | Sequence Similarity % |
|---|---|---|---|---|---|
| Homo sapiens | Human | NP_542390.2 | 123 | 100 | 100 |
| Saimiri boliviensis boliviensis | Black-Capped Squirrel Monkey | XP_010332875.1 | 126 | 87 | 89 |
| Equus caballus | Horse | XP_001916914.1 | 124 | 82 | 82 |
| Oryctolagus cuniculus | European Rabbit | XP_002708495.1 | 126 | 75 | 83 |
| Erinaceus europaeus | European Hedgehog | XP_007539796.1 | 124 | 59 | 69 |
| Leptonychotes weddellii | Weddell Seal | XP_006733365.1 | 130 | 48 | 59 |
| Pelodiscus sinensis | Chinese Softshell Turtle | XP_006111270.1 | 123 | 44 | 59 |
| Anolis carolinensis | Carolina Anole | XP_008119278.1 | 125 | 42 | 57 |
| Alligator mississippiensis | American Alligator | XP_006271409.1 | 118 | 39 | 54 |
| Python bivittatus | Burmese Python | XP_007422684.1 | 160 | 38 | 59 |
| Haliaeetus albicilla | White-Tailed Eagle | XP_009915555.1 | 118 | 46 | 60 |
| Pseudopodoces humilis | Ground Tit | XP_005531117.1 | 118 | 46 | 58 |
| Cariama cristata | Red-legged Seriema | XP_009702852.1 | 118 | 44 | 58 |
| Apaloderma vittatum | Bar-tailed Trogon | XP_009868605.1 | 118 | 44 | 59 |
| Anas platyrhynchos | Mallard | XP_005030930.1 | 139 | 43 | 58 |
| Tinamus guttatus | White-throated tinamou | XP_010217725.1 | 118 | 42 | 57 |
| Ficedula albicollis | Collared Flycatcher | XP_005058859.1 | 122 | 38 | 52 |
| Geospiza fortis | Medium Ground Finch | XP_005427571.1 | 117 | 36 | 52 |
Clinical significance
Unusual DNA methylation in the C11orf52 gene in some children can be attributed to prenatal smoke exposure.[10]
C11orf52 may also play a role in lung cancer. C11orf52 is expressed in the lungs and has been associated with increased phosphorylation in cell lung cancer tumors. There is evidence that phosphorylation mechanisms exist which enhance proteins and pathways which should have inhibited phosphorylation in order to prevent extreme proliferation. C11orf52 is one gene where the phosphorylation is significantly different between the cancerous cells and normal tissue.[11]
Further reading
- Varjosalo M, Keskitalo S, Van Drogen A, Nurkkala H, Vichalkovski A, Aebersold R, Gstaiger M (April 2013). "The protein interaction landscape of the human CMGC kinase group". Cell Reports. 3 (4): 1306–20. doi:10.1016/j.celrep.2013.03.027. hdl:20.500.11850/70524. PMID 23602568.
- Oláh J, Vincze O, Virók D, Simon D, Bozsó Z, Tõkési N, Horváth I, Hlavanda E, Kovács J, Magyar A, Szũcs M, Orosz F, Penke B, Ovádi J (September 2011). "Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein". The Journal of Biological Chemistry. 286 (39): 34088–100. doi:10.1074/jbc.M111.243907. PMC 3190826. PMID 21832049.
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000149300 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032062 - 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.
- ↑ "NCBI". www.ncbi.nlm.nih.gov. Retrieved 2015-05-08.
- 1 2 3 4 5 "Human hg19 chr11:111,789,601-111,797,595 UCSC Genome Browser v384".
- ↑ "AceView: Gene:HSPB2andC11orf52, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView".
- ↑ "NCBI". www.ncbi.nlm.nih.gov. Retrieved 2015-05-08.
- ↑ "NCBI". www.ncbi.nlm.nih.gov. Retrieved 2015-05-08.
- ↑ Nielsen CH, Larsen A, Nielsen AL (February 2016). "DNA methylation alterations in response to prenatal exposure of maternal cigarette smoking: A persistent epigenetic impact on health from maternal lifestyle?". Archives of Toxicology. 90 (2): 231–45. doi:10.1007/s00204-014-1426-0. PMID 25480659. S2CID 15196038.
- ↑ Wu CJ, Cai T, Rikova K, Merberg D, Kasif S, Steffen M (November 2009). "A predictive phosphorylation signature of lung cancer". PLOS ONE. 4 (11): e7994. Bibcode:2009PLoSO...4.7994W. doi:10.1371/journal.pone.0007994. PMC 2777383. PMID 19946374.