Human Gene ASXL1 (ENST00000375689.5) Description and Page Index
  Description: additional sex combs like 1, transcriptional regulator (from HGNC ASXL1)
RefSeq Summary (NM_001164603): 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].
Gencode Transcript: ENST00000375689.5
Gencode Gene: ENSG00000171456.19
Transcript (Including UTRs)
   Position: hg38 chr20:32,359,565-32,372,553 Size: 12,989 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr20:32,359,747-32,372,169 Size: 12,423 Coding Exon Count: 5 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr20:32,359,565-32,372,553)mRNA (may differ from genome)Protein (81 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
MGImyGene2PubMedStanford SOURCEUniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: ASXL1
Diseases sorted by gene-association score: bohring-opitz syndrome* (1380), myelodysplastic syndrome* (361), hypertrichosis* (285), refractory anemia (20), chronic myelomonocytic leukemia (20), exophthalmos (11), refractory anemia with excess blasts (10), atypical chronic myeloid leukemia (8), chronic neutrophilic leukemia (8), sm-ahnmd (7), essential thrombocythemia (6), myelodysplastic myeloproliferative cancer (6), aplastic anemia (2), myelofibrosis with myeloid metaplasia, somatic (1), leukemia, acute myeloid (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.74 RPKM in Testis
Total median expression: 669.47 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -40.80182-0.224 Picture PostScript Text
3' UTR -71.90384-0.187 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR024811 - ASX/ASX-like

ModBase Predicted Comparative 3D Structure on Q5JWS8
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated

-  Descriptions from all associated GenBank mRNAs
  BC064984 - Homo sapiens additional sex combs like 1 (Drosophila), mRNA (cDNA clone IMAGE:2964718), complete cds.
BC137278 - Homo sapiens additional sex combs like 1 (Drosophila), mRNA (cDNA clone MGC:168898 IMAGE:9021275), complete cds.
BC137280 - Homo sapiens additional sex combs like 1 (Drosophila), mRNA (cDNA clone MGC:168900 IMAGE:9021277), complete cds.
AJ438952 - Homo sapiens mRNA for additional sex combs-like 1 protein (ASXL1 gene).
AK122923 - Homo sapiens cDNA FLJ16604 fis, clone TESTI4008097, highly similar to Polycomb group protein ASXL1.
AB084280 - Homo sapiens ASXH1 mRNA for polycomb group protein, complete cds.
BC100280 - Homo sapiens additional sex combs like 1 (Drosophila), mRNA (cDNA clone IMAGE:6068963), complete cds.

-  Other Names for This Gene
  Alternate Gene Symbols: BC100280, Q5JWS8, Q5JWS8_HUMAN, RP11-358N2.1-002, uc061wem.1
UCSC ID: uc061wem.1
RefSeq Accession: NM_001164603
Protein: Q5JWS8

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ASXL1:
bohring-opitz (Bohring-Optiz Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.