View source for 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]].<ref name="pmid12657473">{{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  }}</ref><ref name="entrez">{{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}}</ref>
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 proteins|Polycomb group of proteins]], which are necessary for the maintenance of stable repression of [[Homeotic gene|homeotic]] and other [[Locus (genetics)|loci]]. The protein is thought to disrupt [[chromatin]] in localized areas, enhancing [[transcription (biology)|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 syndrome]]s and [[chronic myelomonocytic leukemia]]. [[Alternative splicing]] results in multiple transcript variants.<ref name="entrez" />
==See also==
* [[ASXL2]]
* [[ASXL3]]
==References==
{{reflist}}
==External links==
* {{UCSC gene info|ASXL1}}
==Further reading==
{{refbegin | 2}}
*{{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}}
{{refend}}
[[Category:Genes mutated in mice]]
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