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

Gene ID: 171023, updated on 7-Oct-2018

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; 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]
Expression
Ubiquitous expression in testis (RPKM 13.2), lymph node (RPKM 9.6) and 25 other tissues See more
Orthologs

Genomic context

See ASXL1 in Genome Data Viewer
Location:
20q11.21
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (32358062..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 nucleolar protein 4 like Neighboring gene uncharacterized LOC101929698 Neighboring gene VISTA enhancer hs2225

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
C-like 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 BioSystems

  • Deubiquitination, organism-specific biosystem (from REACTOME)
    Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • UCH proteinases, organism-specific biosystem (from REACTOME)
    UCH proteinases, organism-specific biosystemDUBs of the Ub C-terminal Hydrolase (UCH) family are thiol proteases that have an N-terminal catalytic domain sometimes followed by C-terminal extensions that mediate protein-protein interactions. Hu...

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
DNA binding IEA
Inferred from Electronic Annotation
more info
 
chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
peroxisome proliferator activated receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
Process Evidence Code Pubs
animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bone marrow development IEA
Inferred from Electronic Annotation
more info
 
cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
homeostasis of number of cells 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
 
positive regulation of retinoic acid receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
protein deubiquitination TAS
Traceable Author Statement
more info
 
response to retinoic acid ISS
Inferred from Sequence or Structural Similarity
more info
 
thymus development IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
PR-DUB complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
PR-DUB complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
colocalizes_with nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    Consensus CDS
    CCDS86944.1
    UniProtKB/TrEMBL
    Q498B9
    Related
    ENSP00000493987.1, OTTHUMP00000245206, ENST00000646367.1, OTTHUMT00000078626
    Conserved Domains (1) summary
    pfam05066
    Location:1183
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
  2. NM_001363734.1NP_001350663.1  putative Polycomb group protein ASXL1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK122923, AL034550, BC137280, BU686340
    Consensus CDS
    CCDS86945.1
    Conserved Domains (3) summary
    pfam05066
    Location:973
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:176298
    ASXH; Asx homology domain
    pfam13922
    Location:14451478
    PHD_3; PHD domain of transcriptional enhancer, Asx
  3. 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
    ENSP00000364839.4, OTTHUMP00000030592, ENST00000375687.9, OTTHUMT00000078624
    Conserved Domains (3) summary
    pfam05066
    Location:1183
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:236359
    ASXH; Asx homology domain
    pfam13922
    Location:15061539
    PHD_3; PHD domain of transcriptional enhancer, Asx

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    32358062..32439319
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027706.1XP_016883195.1  putative Polycomb group protein ASXL1 isoform X5

  2. XM_006723727.3XP_006723790.1  putative Polycomb group protein ASXL1 isoform X2

    See identical proteins and their annotated locations for XP_006723790.1

    Related
    ENSP00000481978.1, ENST00000620121.4
    Conserved Domains (3) summary
    pfam05066
    Location:1182
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:235358
    ASXH; Asx homology domain
    pfam13922
    Location:15051538
    PHD_3; PHD domain of transcriptional enhancer, Asx
  3. XM_011528648.3XP_011526950.1  putative Polycomb group protein ASXL1 isoform X1

    Conserved Domains (3) summary
    pfam05066
    Location:106170
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:323446
    ASXH; Asx homology domain
    pfam13922
    Location:15931626
    PHD_3; PHD domain of transcriptional enhancer, Asx
  4. XM_006723732.3XP_006723795.1  putative Polycomb group protein ASXL1 isoform X6

    Related
    ENSP00000495053.1, ENST00000646985.1
    Conserved Domains (3) summary
    pfam05066
    Location:973
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:176298
    ASXH; Asx homology domain
    pfam13922
    Location:14451478
    PHD_3; PHD domain of transcriptional enhancer, Asx
  5. XM_006723730.4XP_006723793.1  putative Polycomb group protein ASXL1 isoform X4

    See identical proteins and their annotated locations for XP_006723793.1

    Conserved Domains (3) summary
    pfam05066
    Location:155
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:208331
    ASXH; Asx homology domain
    pfam13922
    Location:14781511
    PHD_3; PHD domain of transcriptional enhancer, Asx
  6. XM_006723728.3XP_006723791.1  putative Polycomb group protein ASXL1 isoform X3

    Conserved Domains (3) summary
    pfam05066
    Location:973
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:226349
    ASXH; Asx homology domain
    pfam13922
    Location:14961529
    PHD_3; PHD domain of transcriptional enhancer, Asx
  7. XM_017027704.1XP_016883193.1  putative Polycomb group protein ASXL1 isoform X4

    Conserved Domains (3) summary
    pfam05066
    Location:155
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:208331
    ASXH; Asx homology domain
    pfam13922
    Location:14781511
    PHD_3; PHD domain of transcriptional enhancer, Asx
  8. XM_011528652.2XP_011526954.1  putative Polycomb group protein ASXL1 isoform X4

    See identical proteins and their annotated locations for XP_011526954.1

    Conserved Domains (3) summary
    pfam05066
    Location:155
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:208331
    ASXH; Asx homology domain
    pfam13922
    Location:14781511
    PHD_3; PHD domain of transcriptional enhancer, Asx
  9. XM_017027705.1XP_016883194.1  putative Polycomb group protein ASXL1 isoform X4

    Conserved Domains (3) summary
    pfam05066
    Location:155
    HARE-HTH; HB1, ASXL, restriction endonuclease HTH domain
    pfam13919
    Location:208331
    ASXH; Asx homology domain
    pfam13922
    Location:14781511
    PHD_3; PHD domain of transcriptional enhancer, Asx
  10. XM_006723733.1XP_006723796.1  putative Polycomb group protein ASXL1 isoform X7

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