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ASXL1

From Wikipedia, the free encyclopedia
ASXL1
Identifiers
AliasesASXL1, BOPS, MDS, additional sex combs like 1, transcriptional regulator, ASXL transcriptional regulator 1
External IDsOMIM: 612990; MGI: 2684063; HomoloGene: 9098; GeneCards: ASXL1; OMA:ASXL1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 2: 153.19 – 153.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Putative Polycomb group protein ASXL1 is a protein that in humans is encoded by the ASXL1 gene.[5][6]

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.[6]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000171456Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042548Ensembl, 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. ^ a b "ASXL1 ASXL transcriptional regulator 1 [ Homo sapiens (human) ]".
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Further reading

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