ASXL1

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
Gene location (Human)
Chr.	Chromosome 20 (human)
End	32,439,319 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	153,245,927 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; sperm; ; gastric mucosa; ; body of pancreas; ; oocyte; ; left lobe of thyroid gland; ; nipple; ; right lung; ; right lobe of thyroid gland; ; upper lobe of left lung;
	Top expressed in
	primitive streak; ; renal corpuscle; ; condyle; ; medullary collecting duct; ; secondary oocyte; ; fossa; ; spermatid; ; substantia nigra; ; motor neuron; ; external carotid artery;
	More reference expression data
	; ; ; ;
	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
	171023
	228790
	ENSG00000171456
	ENSMUSG00000042548
	Q8IXJ9
	P59598
	NM_001164603; NM_015338; NM_001363734
	NM_001039939
	NP_001158075; NP_056153; NP_001350663; NP_001158075.1
	NP_001035028
	Wikidata
View/Edit Human	View/Edit Mouse

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.

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