ASXL1

GENE INFORMATION

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Gene name

ASXL1 (HGNC Symbol)

Synonyms

KIAA0978

Description

Additional sex combs like transcriptional regulator 1 (HGNC Symbol)

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]

Chromosome

20

Cytoband

q11.21

Chromosome location (bp)

32358344 - 32439319

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000171456 (version 78.38)

Entrez gene

171023

UniProt

Q8IXJ9 (UniProt - Evidence at protein level)

neXtProt

NX_Q8IXJ9

Antibodypedia

ASXL1 antibodies
 

PROTEIN VIEW

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ASXL1-001
 
ASXL1-002
 
ASXL1-003
 
ASXL1-005
 
ASXL1-201
 
ASXL1-202
 
ASXL1-203
 
ASXL1-204
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ASXL1-001 ENSP00000364839
ENST00000375687
Q8IXJ9
Show all »
Show » Show » 1541 165.4 No 0
ASXL1-002 ENSP00000364841
ENST00000375689
Q5JWS8
Show all »
Show » Show » 81 8.9 No 0
ASXL1-003 ENSP00000451216
ENST00000497249
Show » 74 8 No 0
ASXL1-005 ENSP00000480361
ENST00000555343
Show » 57 6.3 No 0
ASXL1-201 ENSP00000305119
ENST00000306058
Q76L82
Show all »
Show » 1536 164.6 No 0
ASXL1-202 ENSP00000438654
ENST00000542461
Q498B9
Show all »
Show » 85 9.6 No 0
ASXL1-203 ENSP00000480487
ENST00000613218
Q8IXJ9
Show all »
Show » Show » 1541 165.4 No 0
ASXL1-204 ENSP00000481978
ENST00000620121
Q8IXJ9
Show all »
Show » Show » 1541 165.4 No 0