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{{Short description|Protein-coding gene in the species Homo sapiens}}{{Infobox_gene}}
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Orphan|date=December 2022}}

{{Infobox_gene}}
'''Chromosome 11 [[open reading frame]] 53''' is a protein that in humans is encoded by the C11orf53 gene.<ref>{{cite web |title=C11orf53 chromosome 11 open reading frame 53 [Homo sapiens (human)] - Gene - NCBI |url=https://www.ncbi.nlm.nih.gov/gene/341032 |website=www.ncbi.nlm.nih.gov}}</ref> Reduction in C11orf53 gene expression is associated with increased odds of occurrence of colorectal cancer.<ref>{{cite journal | vauthors = Delgado AP, Brandao P, Chapado MJ, Hamid S, Narayanan R | title = Open reading frames associated with cancer in the dark matter of the human genome | journal = Cancer Genomics & Proteomics | volume = 11 | issue = 4 | pages = 201–213 | date = July 2014 | pmid = 25048349 }}</ref> Specifically sequence variation (rs3802842) close to the C11orf53 gene locus that lowers the expression of C11orf53 has been observed in the colonic mucosal cells immediately adjacent to colon cancer tumors.<ref>{{cite journal | vauthors = Biancolella M, Fortini BK, Tring S, Plummer SJ, Mendoza-Fandino GA, Hartiala J, Hitchler MJ, Yan C, Schumacher FR, Conti DV, Edlund CK, Noushmehr H, Coetzee SG, Bresalier RS, Ahnen DJ, Barry EL, Berman BP, Rice JC, Coetzee GA, Casey G | display-authors = 6 | title = Identification and characterization of functional risk variants for colorectal cancer mapping to chromosome 11q23.1 | journal = Human Molecular Genetics | volume = 23 | issue = 8 | pages = 2198–2209 | date = April 2014 | pmid = 24256810 | pmc = 3959808 | doi = 10.1093/hmg/ddt584 }}</ref><ref>{{cite journal | vauthors = Closa A, Cordero D, Sanz-Pamplona R, Solé X, Crous-Bou M, Paré-Brunet L, Berenguer A, Guino E, Lopez-Doriga A, Guardiola J, Biondo S, Salazar R, Moreno V | display-authors = 6 | title = Identification of candidate susceptibility genes for colorectal cancer through eQTL analysis | journal = Carcinogenesis | volume = 35 | issue = 9 | pages = 2039–2046 | date = September 2014 | pmid = 24760461 | pmc = 4146415 | doi = 10.1093/carcin/bgu092 }}</ref> C11orf53 downregulation aids in cells' ability to survive in acidic conditions, which are typical of the tumor microenvironment.<ref>{{cite journal | vauthors = Funato Y, Yoshida A, Hirata Y, Hashizume O, Yamazaki D, Miki H | title = The Oncogenic PRL Protein Causes Acid Addiction of Cells by Stimulating Lysosomal Exocytosis | journal = Developmental Cell | volume = 55 | issue = 4 | pages = 387–397.e8 | date = November 2020 | pmid = 32918875 | doi = 10.1016/j.devcel.2020.08.009 | s2cid = 221643438 | doi-access = free }}</ref> CRISPR-Cas9 inactivation of C11orf53 in an acute myeloid leukemia cell line made the cells resistant to the [[Bcl-2|BCL2]] [[Enzyme inhibitor|inhibitor]] [[Venetoclax]], further supporting a role in cancer predisposition.<ref>{{cite web |title=C11orf53 CRISPR Screens (Homo sapiens) |url=https://orcs.thebiogrid.org/Gene/341032 |website=orcs.thebiogrid.org}}</ref><ref>{{cite journal | vauthors = Nechiporuk T, Kurtz SE, Nikolova O, Liu T, Jones CL, D'Alessandro A, Culp-Hill R, d'Almeida A, Joshi SK, Rosenberg M, Tognon CE, Danilov AV, Druker BJ, Chang BH, McWeeney SK, Tyner JW | display-authors = 6 | title = The TP53 Apoptotic Network Is a Primary Mediator of Resistance to BCL2 Inhibition in AML Cells | journal = Cancer Discovery | volume = 9 | issue = 7 | pages = 910–925 | date = July 2019 | pmid = 31048320 | pmc = 6606338 | doi = 10.1158/2159-8290.CD-19-0125 }}</ref>
'''Chromosome 11 [[open reading frame]] 53''' is a protein that in humans is encoded by the C11orf53 gene.<ref>{{cite web |title=C11orf53 chromosome 11 open reading frame 53 [Homo sapiens (human)] - Gene - NCBI |url=https://www.ncbi.nlm.nih.gov/gene/341032 |website=www.ncbi.nlm.nih.gov}}</ref> Reduction in C11orf53 gene expression is associated with increased odds of occurrence of colorectal cancer.<ref>{{cite journal | vauthors = Delgado AP, Brandao P, Chapado MJ, Hamid S, Narayanan R | title = Open reading frames associated with cancer in the dark matter of the human genome | journal = Cancer Genomics & Proteomics | volume = 11 | issue = 4 | pages = 201–213 | date = July 2014 | pmid = 25048349 }}</ref> Specifically sequence variation (rs3802842) close to the C11orf53 gene locus that lowers the expression of C11orf53 has been observed in the colonic mucosal cells immediately adjacent to colon cancer tumors.<ref>{{cite journal | vauthors = Biancolella M, Fortini BK, Tring S, Plummer SJ, Mendoza-Fandino GA, Hartiala J, Hitchler MJ, Yan C, Schumacher FR, Conti DV, Edlund CK, Noushmehr H, Coetzee SG, Bresalier RS, Ahnen DJ, Barry EL, Berman BP, Rice JC, Coetzee GA, Casey G | display-authors = 6 | title = Identification and characterization of functional risk variants for colorectal cancer mapping to chromosome 11q23.1 | journal = Human Molecular Genetics | volume = 23 | issue = 8 | pages = 2198–2209 | date = April 2014 | pmid = 24256810 | pmc = 3959808 | doi = 10.1093/hmg/ddt584 }}</ref><ref>{{cite journal | vauthors = Closa A, Cordero D, Sanz-Pamplona R, Solé X, Crous-Bou M, Paré-Brunet L, Berenguer A, Guino E, Lopez-Doriga A, Guardiola J, Biondo S, Salazar R, Moreno V | display-authors = 6 | title = Identification of candidate susceptibility genes for colorectal cancer through eQTL analysis | journal = Carcinogenesis | volume = 35 | issue = 9 | pages = 2039–2046 | date = September 2014 | pmid = 24760461 | pmc = 4146415 | doi = 10.1093/carcin/bgu092 }}</ref> C11orf53 downregulation aids in cells' ability to survive in acidic conditions, which are typical of the tumor microenvironment.<ref>{{cite journal | vauthors = Funato Y, Yoshida A, Hirata Y, Hashizume O, Yamazaki D, Miki H | title = The Oncogenic PRL Protein Causes Acid Addiction of Cells by Stimulating Lysosomal Exocytosis | journal = Developmental Cell | volume = 55 | issue = 4 | pages = 387–397.e8 | date = November 2020 | pmid = 32918875 | doi = 10.1016/j.devcel.2020.08.009 | s2cid = 221643438 | doi-access = free }}</ref> CRISPR-Cas9 inactivation of C11orf53 in an acute myeloid leukemia cell line made the cells resistant to the [[Bcl-2|BCL2]] [[Enzyme inhibitor|inhibitor]] [[Venetoclax]], further supporting a role in cancer predisposition.<ref>{{cite web |title=C11orf53 CRISPR Screens (Homo sapiens) |url=https://orcs.thebiogrid.org/Gene/341032 |website=orcs.thebiogrid.org}}</ref><ref>{{cite journal | vauthors = Nechiporuk T, Kurtz SE, Nikolova O, Liu T, Jones CL, D'Alessandro A, Culp-Hill R, d'Almeida A, Joshi SK, Rosenberg M, Tognon CE, Danilov AV, Druker BJ, Chang BH, McWeeney SK, Tyner JW | display-authors = 6 | title = The TP53 Apoptotic Network Is a Primary Mediator of Resistance to BCL2 Inhibition in AML Cells | journal = Cancer Discovery | volume = 9 | issue = 7 | pages = 910–925 | date = July 2019 | pmid = 31048320 | pmc = 6606338 | doi = 10.1158/2159-8290.CD-19-0125 }}</ref>


Revision as of 02:43, 17 October 2024

POU2AF2
Identifiers
AliasesPOU2AF2, chromosome 11 open reading frame 53, POU class 2 homeobox associating factor 2, C11orf53
External IDsMGI: 1917059; HomoloGene: 18881; GeneCards: POU2AF2; OMA:POU2AF2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

341032

69809

Ensembl

ENSG00000150750

ENSMUSG00000036027

UniProt

Q8IXP5

Q9D8Q6

RefSeq (mRNA)

NM_198498

NM_027217
NM_001372554
NM_001372555
NM_001372556
NM_001372557

RefSeq (protein)

NP_940900

NP_081493
NP_001359483
NP_001359484
NP_001359485
NP_001359486

Location (UCSC)Chr 11: 111.25 – 111.29 MbChr 9: 51.2 – 51.24 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Chromosome 11 open reading frame 53 is a protein that in humans is encoded by the C11orf53 gene.[5] Reduction in C11orf53 gene expression is associated with increased odds of occurrence of colorectal cancer.[6] Specifically sequence variation (rs3802842) close to the C11orf53 gene locus that lowers the expression of C11orf53 has been observed in the colonic mucosal cells immediately adjacent to colon cancer tumors.[7][8] C11orf53 downregulation aids in cells' ability to survive in acidic conditions, which are typical of the tumor microenvironment.[9] CRISPR-Cas9 inactivation of C11orf53 in an acute myeloid leukemia cell line made the cells resistant to the BCL2 inhibitor Venetoclax, further supporting a role in cancer predisposition.[10][11]

Additional roles have been proposed.[12][13]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000150750 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036027 – 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. ^ "C11orf53 chromosome 11 open reading frame 53 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov.
  6. ^ Delgado AP, Brandao P, Chapado MJ, Hamid S, Narayanan R (July 2014). "Open reading frames associated with cancer in the dark matter of the human genome". Cancer Genomics & Proteomics. 11 (4): 201–213. PMID 25048349.
  7. ^ Biancolella M, Fortini BK, Tring S, Plummer SJ, Mendoza-Fandino GA, Hartiala J, et al. (April 2014). "Identification and characterization of functional risk variants for colorectal cancer mapping to chromosome 11q23.1". Human Molecular Genetics. 23 (8): 2198–2209. doi:10.1093/hmg/ddt584. PMC 3959808. PMID 24256810.
  8. ^ Closa A, Cordero D, Sanz-Pamplona R, Solé X, Crous-Bou M, Paré-Brunet L, et al. (September 2014). "Identification of candidate susceptibility genes for colorectal cancer through eQTL analysis". Carcinogenesis. 35 (9): 2039–2046. doi:10.1093/carcin/bgu092. PMC 4146415. PMID 24760461.
  9. ^ Funato Y, Yoshida A, Hirata Y, Hashizume O, Yamazaki D, Miki H (November 2020). "The Oncogenic PRL Protein Causes Acid Addiction of Cells by Stimulating Lysosomal Exocytosis". Developmental Cell. 55 (4): 387–397.e8. doi:10.1016/j.devcel.2020.08.009. PMID 32918875. S2CID 221643438.
  10. ^ "C11orf53 CRISPR Screens (Homo sapiens)". orcs.thebiogrid.org.
  11. ^ Nechiporuk T, Kurtz SE, Nikolova O, Liu T, Jones CL, D'Alessandro A, et al. (July 2019). "The TP53 Apoptotic Network Is a Primary Mediator of Resistance to BCL2 Inhibition in AML Cells". Cancer Discovery. 9 (7): 910–925. doi:10.1158/2159-8290.CD-19-0125. PMC 6606338. PMID 31048320.
  12. ^ "C11orf53 chromosome 11 open reading frame 53 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov.
  13. ^ Oláh J, Vincze O, Virók D, Simon D, Bozsó Z, Tõkési N, et al. (September 2011). "Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein". The Journal of Biological Chemistry. 286 (39): 34088–34100. doi:10.1074/jbc.M111.243907. PMC 3190826. PMID 21832049.
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