C11orf52

C11orf52
Identifiers
Aliases	C11orf52 , chromosome 11 open reading frame 52
External IDs	MGI: 1914202; HomoloGene: 12059; GeneCards: C11orf52; OMA:C11orf52 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11q23.1 Start 111,918,032 bp [1] End 111,926,871 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9|9 A5.3 Start 50,650,991 bp [2] End 50,657,836 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas islet of Langerhans right uterine tube human kidney olfactory zone of nasal mucosa placenta right lobe of liver salivary gland left lobe of thyroid gland right lobe of thyroid gland Top expressed in right kidney epithelium of stomach epithelium of lens proximal tubule seminal vesicula islet of Langerhans human kidney parotid gland duodenum decidua More reference expression data BioGPS n/a
Orthologs Species Human Mouse 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 Mb Chr 9: 50.65 – 50.66 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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, thalamus, 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 . 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. 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. Bibcode:2016ArTox..90..231N. 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.