C11orf52

C11orf52 is an uncharacterized protein that in homo sapiens is encoded by the C11orf52 gene.

C11orf52
Identifiers
AliasesC11orf52, chromosome 11 open reading frame 52
External IDsMGI: 1914202 HomoloGene: 12059 GeneCards: C11orf52
Orthologs
SpeciesHumanMouse
Entrez

91894

66952

Ensembl

ENSG00000149300

ENSMUSG00000032062

UniProt

Q96A22

Q9D8L0

RefSeq (mRNA)

NM_080659

NM_025865

RefSeq (protein)

NP_542390

NP_080141

Location (UCSC)Chr 11: 111.92 – 111.93 MbChr 9: 50.65 – 50.66 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Gene

Location
Location of C11orf52 on chromosome 11

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
Diagram depicting the expression of KIAA1841 in tissues throughout the body.

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]

Shows the under-expression of the C11orf52 protein in estrogen receptor alpha-silenced MCF7 breast cancer cells compared to control tissue.

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.

Amino acid sequence for the protein 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. 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. GRCh38: Ensembl release 89: ENSG00000149300 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000032062 - 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". www.ncbi.nlm.nih.gov. Retrieved 2015-05-08.
  6. "Human hg19 chr11:111,789,601-111,797,595 UCSC Genome Browser v384".
  7. "AceView: Gene:HSPB2andC11orf52, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView".
  8. "NCBI". www.ncbi.nlm.nih.gov. Retrieved 2015-05-08.
  9. "NCBI". www.ncbi.nlm.nih.gov. Retrieved 2015-05-08.
  10. 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.
  11. 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.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.