Version 5.4
Homo sapiens Gene: ASXL1
Summary
InnateDB Gene IDBG-65101.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ASXL1
Gene Name additional sex combs like 1 (Drosophila)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000171456
Encoded Proteins
IDBP-65103
additional sex combs like 1 (Drosophila)
IDBP-65107
additional sex combs like 1 (Drosophila)
IDBP-65109
additional sex combs like 1 (Drosophila)
IDBP-597080
additional sex combs like 1 (Drosophila)
IDBP-807954
additional sex combs like transcriptional regulator 1
IDBP-584767
additional sex combs like 1 (Drosophila)
IDBP-807958
additional sex combs like transcriptional regulator 1
IDBP-807962
additional sex combs like transcriptional regulator 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is similar to the Drosophila additional sex combs gene, which 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. [provided by RefSeq, Sep 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:32358344-32439319
Strand Forward strand
Band q11.21
Transcripts
ENST00000306058 ENSP00000305119
ENST00000375689 ENSP00000364841
ENST00000375687 ENSP00000364839
ENST00000497249 ENSP00000451216
ENST00000470145
ENST00000555343 ENSP00000480361
ENST00000553345
ENST00000555564
ENST00000542461 ENSP00000438654
ENST00000619344
ENST00000620121 ENSP00000481978
ENST00000613218 ENSP00000480487
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 28 [view]
Protein-Protein 28 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003713 transcription coactivator activity
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0042974 retinoic acid receptor binding
GO:0042975 peroxisome proliferator activated receptor binding
GO:0046872 metal ion binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0032526 response to retinoic acid
GO:0035359 negative regulation of peroxisome proliferator activated receptor signaling pathway
GO:0035522 monoubiquitinated histone H2A deubiquitination
GO:0045599 negative regulation of fat cell differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048386 positive regulation of retinoic acid receptor signaling pathway
GO:0048387 negative regulation of retinoic acid receptor signaling pathway
GO:0060348 bone development
Cellular Component
GO:0000790 nuclear chromatin
GO:0035517 PR-DUB complex
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000042548
View Gene Order
ENSBTAG00000031402
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.374043 Hs.600595 Hs.601317
RefSeq NM_001164603 NM_015338 XM_006723727 XM_006723728 XM_006723729 XM_006723730
HUGO
OMIM
CCDS CCDS13201
HPRD 16516
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca