ASXL1
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Putative Polycomb group protein ASXL1 is a protein that in humans is encoded by the ASXL1 gene.{{cite journal | vauthors = Fisher CL, Berger J, Randazzo F, Brock HW | title = A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11 | journal = Gene | volume = 306 | pages = 115–26 |date=Mar 2003 | pmid = 12657473 | doi =10.1016/S0378-1119(03)00430-X }}{{cite web | title = ASXL1 ASXL transcriptional regulator 1 [ Homo sapiens (human) ]| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=171023}}
In Drosophila, the Additional sex combs (Asx) gene encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants.
See also
References
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External links
- {{UCSC gene info|ASXL1}}
Further reading
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- {{cite journal | vauthors=Nakajima D, Okazaki N, Yamakawa H |title=Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones |journal=DNA Res. |volume=9 |issue= 3 |pages= 99–106 |year= 2003 |pmid= 12168954 |doi=10.1093/dnares/9.3.99 |display-authors=etal|doi-access=free }}
- {{cite journal | vauthors=Sinclair DA, Campbell RB, Nicholls F |title=Genetic Analysis of the Additional Sex Combs Locus of Drosophila Melanogaster |journal=Genetics |volume=130 |issue= 4 |pages= 817–25 |year= 1992 |doi=10.1093/genetics/130.4.817 |pmid= 1349871 | pmc=1204931 |display-authors=etal}}
- {{cite journal | vauthors=Sinclair DA, Milne TA, Hodgson JW |title=The Additional sex combs gene of Drosophila encodes a chromatin protein that binds to shared and unique Polycomb group sites on polytene chromosomes |journal=Development |volume=125 |issue= 7 |pages= 1207–16 |year= 1998 |doi=10.1242/dev.125.7.1207 |pmid= 9477319 |display-authors=etal}}
- {{cite journal | vauthors=Nagase T, Ishikawa K, Suyama M |title=Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro |journal=DNA Res. |volume=6 |issue= 1 |pages= 63–70 |year= 1999 |pmid= 10231032 |doi=10.1093/dnares/6.1.63 |display-authors=etal|doi-access=free }}
- {{cite journal | vauthors=Deloukas P, Matthews LH, Ashurst J |title=The DNA sequence and comparative analysis of human chromosome 20 |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a |bibcode=2001Natur.414..865D |display-authors=etal|doi-access=free }}
- {{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |display-authors=etal|doi-access=free }}
- {{cite journal | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal|doi-access=free }}
- {{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
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Category:Genes mutated in mice
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