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ASXL1
Identifiers
Aliases	ASXL1, BOPS, MDS, additional sex combs like 1, transcriptional regulator, ASXL transcriptional regulator 1
External IDs	OMIM: 612990; MGI: 2684063; HomoloGene: 9098; GeneCards: ASXL1; OMA:ASXL1 - orthologs
Gene location (Human) Chr. Chromosome 20 (human) Band 20q11.21 Start 32,358,330 bp End 32,439,319 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 H1 Start 153,187,749 bp End 153,245,927 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve sperm gastric mucosa left testis ventricular zone body of pancreas right testis oocyte epithelium of colon left lobe of thyroid gland Top expressed in primitive streak renal corpuscle condyle primary oocyte medullary collecting duct secondary oocyte zygote fossa spermatid Rostral migratory stream More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding metal ion binding protein binding peroxisome proliferator activated receptor binding transcription coactivator activity retinoic acid receptor binding chromatin binding Cellular component PR-DUB complex nucleus nucleoplasm Biological process regulation of transcription, DNA-templated heart morphogenesis monoubiquitinated histone H2A deubiquitination transcription, DNA-templated lung saccule development bone development negative regulation of fat cell differentiation positive regulation of retinoic acid receptor signaling pathway negative regulation of peroxisome proliferator activated receptor signaling pathway positive regulation of transcription by RNA polymerase II response to retinoic acid cell morphogenesis animal organ morphogenesis protein deubiquitination hematopoietic or lymphoid organ development thymus development bone marrow development homeostasis of number of cells chromatin organization hemopoiesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 171023 228790 Ensembl ENSG00000171456 ENSMUSG00000042548 UniProt Q8IXJ9 P59598 RefSeq (mRNA) NM_001164603 NM_015338 NM_001363734 NM_001039939 RefSeq (protein) NP_001158075 NP_056153 NP_001350663 NP_001158075.1 NP_001035028 Location (UCSC) Chr 20: 32.36 – 32.44 Mb Chr 2: 153.19 – 153.25 Mb PubMed search
Wikidata
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Putative Polycomb group protein ASXL1 is a protein that in humans is encoded by the ASXL1 gene.

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

• ASXL2
• ASXL3

References

1. ^ GRCh38: Ensembl release 89: ENSG00000171456 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000042548 – 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. Fisher CL, Berger J, Randazzo F, Brock HW (Mar 2003). "A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11". Gene. 306: 115–26. doi:10.1016/S0378-1119(03)00430-X. PMID 12657473.
6. ^ "ASXL1 ASXL transcriptional regulator 1 [ Homo sapiens (human) ]".

External links

• Human ASXL1 genome location and ASXL1 gene details page in the UCSC Genome Browser.

Further reading

• Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
• Sinclair DA, Campbell RB, Nicholls F, et al. (1992). "Genetic Analysis of the Additional Sex Combs Locus of Drosophila Melanogaster". Genetics. 130 (4): 817–25. doi:10.1093/genetics/130.4.817. PMC 1204931. PMID 1349871.
• Sinclair DA, Milne TA, Hodgson JW, et al. (1998). "The Additional sex combs gene of Drosophila encodes a chromatin protein that binds to shared and unique Polycomb group sites on polytene chromosomes". Development. 125 (7): 1207–16. doi:10.1242/dev.125.7.1207. PMID 9477319.
• Nagase T, Ishikawa K, Suyama M, et al. (1999). "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". DNA Res. 6 (1): 63–70. doi:10.1093/dnares/6.1.63. PMID 10231032.
• Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. Bibcode:2001Natur.414..865D. doi:10.1038/414865a. PMID 11780052.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.

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