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ASXL1 ASXL transcriptional regulator 1 [ Homo sapiens (human) ]

Gene ID: 171023, updated on 4-Dec-2022

Summary

Official Symbol
ASXL1provided by HGNC
Official Full Name
ASXL transcriptional regulator 1provided by HGNC
Primary source
HGNC:HGNC:18318
See related
Ensembl:ENSG00000171456 MIM:612990; AllianceGenome:HGNC:18318
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MDS; BOPS
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]
Expression
Ubiquitous expression in testis (RPKM 13.2), lymph node (RPKM 9.6) and 25 other tissues See more
Orthologs
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Genomic context

See ASXL1 in Genome Data Viewer
Location:
20q11.21
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (32358331..32439319)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (34083215..34164178)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30946134..31027122)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904885 Neighboring gene kinesin family member 3B Neighboring gene nucleolar protein 4 like Neighboring gene uncharacterized LOC124904886 Neighboring gene uncharacterized LOC101929698

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Bohring-Opitz syndrome
MedGen: C0796232 OMIM: 605039 GeneReviews: Bohring-Optiz Syndrome
Compare labs
Myelodysplastic syndrome
MedGen: C3463824 OMIM: 614286 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2013-03-14)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2013-03-14)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0978, MGC71111, MGC117280

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables nuclear retinoic acid receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables peroxisome proliferator activated receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables peroxisome proliferator activated receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription coactivator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in bone marrow development IEA
Inferred from Electronic Annotation
more info
 
involved_in cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in chromatin organization IEA
Inferred from Electronic Annotation
more info
 
involved_in heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
involved_in homeostasis of number of cells IEA
Inferred from Electronic Annotation
more info
 
involved_in lung saccule development IEA
Inferred from Electronic Annotation
more info
 
involved_in monoubiquitinated histone H2A deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of peroxisome proliferator activated receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in podocyte development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of retinoic acid receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of kidney size IEA
Inferred from Electronic Annotation
more info
 
involved_in response to retinoic acid ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in thymus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of PR-DUB complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of PR-DUB complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of PR-DUB complex IPI
Inferred from Physical Interaction
more info
PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
polycomb group protein ASXL1
Names
additional sex combs like 1, transcriptional regulator
additional sex combs like transcriptional regulator 1
putative Polycomb group protein ASXL1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027868.1 RefSeqGene

    Range
    5001..85976
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_630

mRNA and Protein(s)

  1. NM_001164603.1NP_001158075.1  polycomb group protein ASXL1 isoform 2

    See identical proteins and their annotated locations for NP_001158075.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and lacks several exons in the 3' coding region, but contains an alternate 3' exon, compared to variant 1. The encoded isoform (2) is significantly shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC100280, CR977683
    Consensus CDS
    CCDS86944.1
    UniProtKB/TrEMBL
    Q498B9
    Related
    ENSP00000493987.1, ENST00000646367.1
    Conserved Domains (1) summary
    pfam05066
    Location:1183
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
  2. NM_001363734.1NP_001350663.1  polycomb group protein ASXL1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK122923, AL034550, BC137280, BU686340
    Consensus CDS
    CCDS86945.1
    UniProtKB/TrEMBL
    A0A2R8Y5U1
    Related
    ENSP00000495053.1, ENST00000646985.1
    Conserved Domains (3) summary
    pfam13922
    Location:14451478
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:973
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:176298
    ASXH; Asx homology domain
  3. NM_015338.6NP_056153.2  polycomb group protein ASXL1 isoform 1

    See identical proteins and their annotated locations for NP_056153.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL034550, AL121583, BC137280, BU686340
    Consensus CDS
    CCDS13201.1
    UniProtKB/Swiss-Prot
    Q8IXJ9, Q9Y2I4
    Related
    ENSP00000364839.4, ENST00000375687.10
    Conserved Domains (3) summary
    pfam13922
    Location:15061539
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:1183
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:236359
    ASXH; Asx homology domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    32358331..32439319
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723727.4XP_006723790.1  polycomb group protein ASXL1 isoform X2

    See identical proteins and their annotated locations for XP_006723790.1

    Related
    ENSP00000480487.1, ENST00000613218.4
    Conserved Domains (3) summary
    pfam13922
    Location:15051538
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:1182
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:235358
    ASXH; Asx homology domain
  2. XM_047439945.1XP_047295901.1  polycomb group protein ASXL1 isoform X7

  3. XM_011528648.4XP_011526950.1  polycomb group protein ASXL1 isoform X1

    Conserved Domains (3) summary
    pfam13922
    Location:15931626
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:106170
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:323446
    ASXH; Asx homology domain
  4. XM_047439942.1XP_047295898.1  polycomb group protein ASXL1 isoform X6

  5. XM_047439944.1XP_047295900.1  polycomb group protein ASXL1 isoform X6

  6. XM_047439939.1XP_047295895.1  polycomb group protein ASXL1 isoform X3

  7. XM_006723728.4XP_006723791.1  polycomb group protein ASXL1 isoform X4

    Conserved Domains (3) summary
    pfam13922
    Location:14961529
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:973
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:226349
    ASXH; Asx homology domain
  8. XM_047439940.1XP_047295896.1  polycomb group protein ASXL1 isoform X5

    Related
    ENSP00000305119.5, ENST00000306058.9
  9. XM_047439941.1XP_047295897.1  polycomb group protein ASXL1 isoform X6

  10. XM_047439943.1XP_047295899.1  polycomb group protein ASXL1 isoform X6

  11. XM_006723730.5XP_006723793.1  polycomb group protein ASXL1 isoform X6

    See identical proteins and their annotated locations for XP_006723793.1

    Conserved Domains (3) summary
    pfam13922
    Location:14781511
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:155
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:208331
    ASXH; Asx homology domain
  12. XM_006723733.2XP_006723796.1  polycomb group protein ASXL1 isoform X8

    Conserved Domains (2) summary
    pfam13922
    Location:12781311
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam13919
    Location:11131
    ASXH; Asx homology domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    34083215..34164178
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)