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ASXL1 additional sex combs like 1, transcriptional regulator [ Homo sapiens (human) ]

Gene ID: 171023, updated on 22-May-2016
Official Symbol
ASXL1provided by HGNC
Official Full Name
additional sex combs like 1, transcriptional regulatorprovided by HGNC
Primary source
HGNC:HGNC:18318
See related
Ensembl:ENSG00000171456 HPRD:16516; MIM:612990; Vega:OTTHUMG00000032218
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]
Orthologs
Location:
20q11
Exon count:
20
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 20 NC_000020.11 (32358344..32439319)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30946147..31027122)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene protein O-fucosyltransferase 1 Neighboring gene microRNA 1825 Neighboring gene kinesin family member 3B Neighboring gene uncharacterized LOC105372590 Neighboring gene nucleolar protein 4-like Neighboring gene uncharacterized LOC101929698 Neighboring gene uncharacterized LOC105372592

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
C-like syndrome
MedGen: C0796232 OMIM: 605039 GeneReviews: Not available
Compare labs
Myelodysplastic syndrome
MedGen: C0026986 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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0978, MGC71111, MGC117280

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
peroxisome proliferator activated receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
retinoic acid receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription coactivator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription corepressor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
bone development IEA
Inferred from Electronic Annotation
more info
 
heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
lung saccule development IEA
Inferred from Electronic Annotation
more info
 
monoubiquitinated histone H2A deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of peroxisome proliferator activated receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of retinoic acid receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of retinoic acid receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
response to retinoic acid ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
PR-DUB complex IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
putative Polycomb group protein ASXL1
Names
additional sex combs like 1
additional sex combs like transcriptional regulator 1

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  putative 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
    UniProtKB/TrEMBL
    Q498B9
    Related
    ENSP00000451216, OTTHUMP00000245206, ENST00000497249, OTTHUMT00000078626
    Conserved Domains (1) summary
    pfam05066
    Location:1183
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
  2. NM_015338.5NP_056153.2  putative 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
    Related
    ENSP00000364839, OTTHUMP00000030592, ENST00000375687, OTTHUMT00000078624
    Conserved Domains (3) summary
    pfam13922
    Location:14761539
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:1183
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:231362
    ASXH; Asx homology domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p2 Primary Assembly

    Range
    32358344..32439319
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723727.2XP_006723790.1  

    See identical proteins and their annotated locations for XP_006723790.1

    Related
    ENSP00000480487, ENST00000613218
    Conserved Domains (3) summary
    pfam13922
    Location:14751538
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:1182
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:230361
    ASXH; Asx homology domain
  2. XM_011528647.1XP_011526949.1  

    Conserved Domains (3) summary
    pfam13922
    Location:15641627
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:106171
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:319450
    ASXH; Asx homology domain
  3. XM_011528650.1XP_011526952.1  

    Conserved Domains (3) summary
    pfam13922
    Location:15131576
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:106171
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:277399
    ASXH; Asx homology domain
  4. XM_011528648.1XP_011526950.1  

    Conserved Domains (3) summary
    pfam13922
    Location:15631626
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:106170
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:318449
    ASXH; Asx homology domain
  5. XM_011528649.1XP_011526951.1  

    Conserved Domains (3) summary
    pfam13922
    Location:15361599
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:78143
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:291422
    ASXH; Asx homology domain
  6. XM_006723732.2XP_006723795.1  

    Conserved Domains (3) summary
    pfam13922
    Location:14151478
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:973
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:179301
    ASXH; Asx homology domain
  7. XM_006723728.2XP_006723791.1  

    Conserved Domains (3) summary
    pfam13922
    Location:14661529
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:973
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:221352
    ASXH; Asx homology domain
  8. XM_011528651.1XP_011526953.1  

    Conserved Domains (3) summary
    pfam13922
    Location:14691532
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:1176
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:224355
    ASXH; Asx homology domain
  9. XM_006723730.2XP_006723793.1  

    See identical proteins and their annotated locations for XP_006723793.1

    Conserved Domains (3) summary
    pfam13922
    Location:14481511
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:155
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:203334
    ASXH; Asx homology domain
  10. XM_011528652.1XP_011526954.1  

    See identical proteins and their annotated locations for XP_011526954.1

    Conserved Domains (3) summary
    pfam13922
    Location:14481511
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam05066
    Location:155
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:203334
    ASXH; Asx homology domain
  11. XM_006723733.1XP_006723796.1  

    Conserved Domains (2) summary
    pfam13922
    Location:12481311
    PHD_3; PHD domain of transcriptional enhancer, Asx
    pfam13919
    Location:11134
    ASXH; Asx homology domain

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 Alternate CHM1_1.1

    Range
    30850605..30932052
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)