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Aliases for ASXL1 Gene

Aliases for ASXL1 Gene

  • Additional Sex Combs Like 1, Transcriptional Regulator 2 3 5
  • Additional Sex Combs Like Transcriptional Regulator 1 3
  • Additional Sex Combs Like 1 (Drosophila) 2
  • Putative Polycomb Group Protein ASXL1 3
  • Additional Sex Combs-Like Protein 1 4
  • Additional Sex Combs Like 1 3
  • KIAA0978 4
  • BOPS 3
  • MDS 3

External Ids for ASXL1 Gene

Previous GeneCards Identifiers for ASXL1 Gene

  • GC00U991178
  • GC20M030694
  • GC20P031644
  • GC20P031691
  • GC20P030409
  • GC20P030946
  • GC20P027742

Summaries for ASXL1 Gene

Entrez Gene Summary for ASXL1 Gene

  • 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]

GeneCards Summary for ASXL1 Gene

ASXL1 (Additional Sex Combs Like 1, Transcriptional Regulator) is a Protein Coding gene. Diseases associated with ASXL1 include Bohring-Opitz Syndrome and Myelodysplastic Syndrome. Among its related pathways are Metabolism of proteins and Deubiquitination. GO annotations related to this gene include transcription coactivator activity and retinoic acid receptor binding. An important paralog of this gene is ASXL3.

UniProtKB/Swiss-Prot for ASXL1 Gene

  • Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator of RARA and RXRA through association with NCOA1. Acts as corepressor through recruitment of KDM1A and CBX5 to target genes in a cell-type specific manner; the function seems to involve differential recruitment of methylated histone H3 to respective promoters. Acts as corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at Lys-119 (H2AK119ub1).

Gene Wiki entry for ASXL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASXL1 Gene

Genomics for ASXL1 Gene

Regulatory Elements for ASXL1 Gene

Enhancers for ASXL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F032331 1.1 Ensembl ENCODE 13 -24.7 -24661 3.4 HDGF HDAC1 PKNOX1 TBL1XR1 EGR1 FOS CREM ZBTB2 CBFB CEBPB ASXL1 MIR1825 ENSG00000236772 MYLK2 TSPY26P NOL4L GC20P032332 ENSG00000277692
GH20F032336 1 Ensembl ENCODE 13 -20.2 -20244 2.6 ZFP64 ARID4B DMAP1 SLC30A9 GATA2 ZNF143 MXD4 REST PPARG KAT8 ASXL1 POFUT1 MIR1825 ENSG00000236772 MYLK2 TSPY26P GC20P032332 ENSG00000277692
GH20F032387 1.1 Ensembl ENCODE 12.4 +28.9 28931 0.5 SPI1 RFX5 ASXL1 ENSG00000236772
GH20F032385 0.6 Ensembl 12.4 +27.4 27357 0.6 ASXL1 ENSG00000236772
GH20F032390 0.6 ENCODE 12.3 +33.0 33046 1.0 SMARCA5 ELF3 PKNOX1 HLF ZEB2 ARID1B ZNF600 TRIM24 NFE2 EMSY ASXL1 TSPY26P ENSG00000236772
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ASXL1 on UCSC Golden Path with GeneCards custom track

Promoters for ASXL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000234049 756 3801 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1

Genomic Location for ASXL1 Gene

Chromosome:
20
Start:
32,358,344 bp from pter
End:
32,439,319 bp from pter
Size:
80,976 bases
Orientation:
Plus strand

Genomic View for ASXL1 Gene

Genes around ASXL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASXL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASXL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASXL1 Gene

Proteins for ASXL1 Gene

  • Protein details for ASXL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IXJ9-ASXL1_HUMAN
    Recommended name:
    Putative Polycomb group protein ASXL1
    Protein Accession:
    Q8IXJ9
    Secondary Accessions:
    • B2RP59
    • Q5JWS9
    • Q8IYY7
    • Q9H466
    • Q9NQF8
    • Q9UFJ0
    • Q9UFP8
    • Q9Y2I4

    Protein attributes for ASXL1 Gene

    Size:
    1541 amino acids
    Molecular mass:
    165448 Da
    Quaternary structure:
    • Component of the PR-DUB complex, at least composed of BAP1 and ASXL1. Interacts with RARA, RXRA, NCOA1, KDM1A and CBX5. Interacts with PPARA, PPARG, CBX1 and CBX3 (By similarity).

    Alternative splice isoforms for ASXL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASXL1 Gene

Post-translational modifications for ASXL1 Gene

  • Ubiquitination at Lys 351, Lys 362, Lys 367, and Lys 1419
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ASXL1 Gene

Domains & Families for ASXL1 Gene

Protein Domains for ASXL1 Gene

Suggested Antigen Peptide Sequences for ASXL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IXJ9

UniProtKB/Swiss-Prot:

ASXL1_HUMAN :
  • Contains one Leu-Xaa-Xaa-Leu-Leu (LXXLL) motif, which may be required for an association with nuclear receptors.
  • Belongs to the Asx family.
  • Contains 1 PHD-type zinc finger.
Domain:
  • Contains one Leu-Xaa-Xaa-Leu-Leu (LXXLL) motif, which may be required for an association with nuclear receptors.
Family:
  • Belongs to the Asx family.
Similarity:
  • Contains 1 PHD-type zinc finger.
genes like me logo Genes that share domains with ASXL1: view

No data available for Gene Families for ASXL1 Gene

Function for ASXL1 Gene

Molecular function for ASXL1 Gene

UniProtKB/Swiss-Prot Function:
Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator of RARA and RXRA through association with NCOA1. Acts as corepressor through recruitment of KDM1A and CBX5 to target genes in a cell-type specific manner; the function seems to involve differential recruitment of methylated histone H3 to respective promoters. Acts as corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at Lys-119 (H2AK119ub1).

Gene Ontology (GO) - Molecular Function for ASXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003713 transcription coactivator activity ISS --
GO:0003714 transcription corepressor activity ISS --
GO:0005515 protein binding IPI 16606617
GO:0042974 retinoic acid receptor binding ISS --
genes like me logo Genes that share ontologies with ASXL1: view
genes like me logo Genes that share phenotypes with ASXL1: view

Human Phenotype Ontology for ASXL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ASXL1 Gene

MGI Knock Outs for ASXL1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ASXL1 Gene

Localization for ASXL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASXL1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASXL1 Gene COMPARTMENTS Subcellular localization image for ASXL1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 3
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ASXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISS --
GO:0005634 nucleus IEA --
GO:0035517 PR-DUB complex IDA 20436459
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ASXL1: view

Pathways & Interactions for ASXL1 Gene

genes like me logo Genes that share pathways with ASXL1: view

Pathways by source for ASXL1 Gene

Gene Ontology (GO) - Biological Process for ASXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0000902 cell morphogenesis IEA --
GO:0003007 heart morphogenesis IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with ASXL1: view

No data available for SIGNOR curated interactions for ASXL1 Gene

Transcripts for ASXL1 Gene

Unigene Clusters for ASXL1 Gene

Additional sex combs like 1 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASXL1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b
SP1: - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - -
SP5:
SP6: - - - - -
SP7: - - -
SP8:
SP9:
SP10:
SP11: - -

Relevant External Links for ASXL1 Gene

GeneLoc Exon Structure for
ASXL1
ECgene alternative splicing isoforms for
ASXL1

Expression for ASXL1 Gene

mRNA expression in normal human tissues for ASXL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ASXL1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (55.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ASXL1 Gene



Protein tissue co-expression partners for ASXL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ASXL1 Gene:

ASXL1

SOURCE GeneReport for Unigene cluster for ASXL1 Gene:

Hs.374043

mRNA Expression by UniProt/SwissProt for ASXL1 Gene:

Q8IXJ9-ASXL1_HUMAN
Tissue specificity: Widely expressed at low level. Expressed in heart, brain, skeletal muscle, placenta, pancreas, spleen, prostate, small intestine, colon, peripheral blood, leukocytes, bone marrow and fetal liver. Highly expressed in testes.
genes like me logo Genes that share expression patterns with ASXL1: view

Primer Products

No data available for mRNA differential expression in normal tissues for ASXL1 Gene

Orthologs for ASXL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASXL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASXL1 34 35
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia ASXL1 34 35
  • 86.35 (n)
cow
(Bos Taurus)
Mammalia ASXL1 34 35
  • 84.87 (n)
mouse
(Mus musculus)
Mammalia Asxl1 34 16 35
  • 81.72 (n)
rat
(Rattus norvegicus)
Mammalia Asxl1 34
  • 80.38 (n)
oppossum
(Monodelphis domestica)
Mammalia ASXL1 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASXL1 34 35
  • 61.95 (n)
lizard
(Anolis carolinensis)
Reptilia ASXL1 35
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2168 34
African clawed frog
(Xenopus laevis)
Amphibia MGC69124 34
zebrafish
(Danio rerio)
Actinopterygii asxl1 35
  • 30 (a)
OneToOne
Dr.28826 34
fruit fly
(Drosophila melanogaster)
Insecta Asx 35
  • 12 (a)
OneToMany
Species where no ortholog for ASXL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ASXL1 Gene

ENSEMBL:
Gene Tree for ASXL1 (if available)
TreeFam:
Gene Tree for ASXL1 (if available)

Paralogs for ASXL1 Gene

Paralogs for ASXL1 Gene

(3) SIMAP similar genes for ASXL1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with ASXL1: view

Variants for ASXL1 Gene

Sequence variations from dbSNP and Humsavar for ASXL1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs200702600 Pathogenic 32,435,795(+) ATCTT(A/C/T)GGTGG reference, missense, stop-gained
rs373145711 Pathogenic 32,433,408(+) GACAG(C/T)GAGAT reference, stop-gained
rs387907077 Pathogenic 32,435,485(+) AGCCC(C/T)AGGTT reference, stop-gained
rs387907078 Pathogenic 32,434,909(+) TACTA(C/T)AGAGG reference, stop-gained
rs397515401 Pathogenic 32,435,605(+) CATCT(C/T)GAGGA reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for ASXL1 Gene

Variant ID Type Subtype PubMed ID
esv2452890 CNV deletion 19546169
esv3645664 CNV loss 21293372
nsv1136536 CNV deletion 24896259
nsv1144936 CNV deletion 24896259
nsv509765 CNV insertion 20534489

Variation tolerance for ASXL1 Gene

Residual Variation Intolerance Score: 22.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.65; 72.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASXL1 Gene

Human Gene Mutation Database (HGMD)
ASXL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASXL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASXL1 Gene

Disorders for ASXL1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for ASXL1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bohring-opitz syndrome
  • bohring syndrome
myelodysplastic syndrome
  • myelodysplastic syndrome, somatic
refractory anemia
  • anemia refractory
chronic myelomonocytic leukemia
  • leukemia, myelomonocytic, chronic
exophthalmos
  • proptosis
- elite association - COSMIC cancer census association via MalaCards
Search ASXL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ASXL1_HUMAN
  • Bohring-Opitz syndrome (BOPS) [MIM:605039]: A syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints. {ECO:0000269 PubMed:21706002}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myelodysplastic syndrome (MDS) [MIM:614286]: A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML). {ECO:0000269 PubMed:19388938, ECO:0000269 PubMed:20182461}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ASXL1

Genetic Association Database (GAD)
ASXL1
Human Genome Epidemiology (HuGE) Navigator
ASXL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASXL1
genes like me logo Genes that share disorders with ASXL1: view

No data available for Genatlas for ASXL1 Gene

Publications for ASXL1 Gene

  1. A human homolog of Additional sex combs, additional sex combs-like 1, maps to chromosome 20q11. (PMID: 12657473) Fisher C.L. … Brock H.W. (Gene 2003) 2 3 4 22 64
  2. Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia. (PMID: 20182461) Boultwood J. … Wainscoat J.S. (Leukemia 2010) 3 4 46 64
  3. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. (PMID: 19388938) Gelsi-Boyer V. … Birnbaum D. (Br. J. Haematol. 2009) 3 4 46 64
  4. Additional sex comb-like 1 (ASXL1), in cooperation with SRC-1, acts as a ligand-dependent coactivator for retinoic acid receptor. (PMID: 16606617) Cho Y.S. … Um S.J. (J. Biol. Chem. 2006) 3 4 22 64
  5. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. (PMID: 21706002) Hoischen A. … de Vries B.B. (Nat. Genet. 2011) 3 4 64

Products for ASXL1 Gene

Sources for ASXL1 Gene

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