ASXL1

GENERAL INFORMATION

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Gene name

ASXL1

Gene description

Additional sex combs like transcriptional regulator 1

Protein class

Cancer-related genes
Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

8
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 BROWSER

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ENST00000306058
 
ENST00000375687
 
ENST00000375689
 
ENST00000497249
 
ENST00000542461
 
ENST00000555343
 
ENST00000613218
 
ENST00000620121
 
 
 
 


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