ASXL1

ASXL1
Identifiers
Aliases	ASXL1, BOPS, MDS, additional sex combs like 1, transcriptional regulator
External IDs	MGI: 2684063 HomoloGene: 9098 GeneCards: ASXL1
Gene location (Human) Chr. Chromosome 20 (human) Band 20q11.21 Start 32,358,344 bp End 32,439,319 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 H1 Start 153,345,845 bp End 153,404,007 bp
RNA expression pattern 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 Cellular component • PR-DUB complex • extracellular exosome • 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 • covalent chromatin modification • negative regulation of peroxisome proliferator activated receptor signaling pathway • positive regulation of transcription from RNA polymerase II promoter • response to retinoic acid • cell morphogenesis • animal organ morphogenesis • protein deubiquitination • hemopoiesis • hematopoietic or lymphoid organ development • thymus development • bone marrow development • homeostasis of number of cells Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	171023	228790
Ensembl	ENSG00000171456	ENSMUSG00000042548
UniProt	Q8IXJ9 Q498B9	P59598
RefSeq (mRNA)	NM_001164603 NM_015338	NM_001039939
RefSeq (protein)	NP_001158075 NP_056153 NP_001158075.1	NP_001035028
Location (UCSC)	Chr 20: 32.36 – 32.44 Mb	Chr 20: 153.35 – 153.4 Mb
PubMed search

171023

228790

ENSG00000171456

ENSMUSG00000042548

Q8IXJ9
Q498B9

P59598

NM_001164603
NM_015338

NM_001039939

NP_001158075
NP_056153
NP_001158075.1

NP_001035028

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. Although the function of the protein encoded by this gene is not known, it does show some sequence similarity to the protein encoded by the Drosophila Asx gene.

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Wikipedia