Version: 8.0.0
Date: Tue Jan 28 2025
SETD1A
Homo sapiensHGNC:29010
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

SETD1A

Species
Homo sapiens
Symbol
SETD1A
Name
SET domain containing 1A, histone lysine methyltransferase
Synonyms
  • EPEDD
  • EPEO2
Biotype
protein coding gene
Automated Description
Enables several functions, including RNA polymerase II-specific DNA-binding transcription factor binding activity; beta-catenin binding activity; and histone H3K4 methyltransferase activity. Involved in brain development; regulation of chromatin organization; and regulation of hematopoietic stem cell differentiation. Located in chromatin; cytoplasm; and nuclear speck. Part of Set1C/COMPASS complex. Implicated in early-onset epilepsy 2 and neurodevelopmental disorder with speech impairment and dysmorphic facies.
RGD Description
The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Dec 2016]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45814
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
No records match query. Try removing filters.
Showing 0 - 0 of 0 rows
per page

    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
    No records match query. Try removing filters.
    Showing 0 - 0 of 0 rows
    per page
      Download all Alleles/Variants for all genes of the species

      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
      No records match query. Try removing filters.
      Showing 0 - 0 of 0 rows
      per page

        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
        No records match query. Try removing filters.
        Showing 0 - 0 of 0 rows
        per page

          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
          Viewer Help
          Data currently unavailable; sequence viewer under construction

          Sequence Details

          Loading...

          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          SETD1A molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
          No records match query. Try removing filters.
          Showing 0 - 0 of 0 rows
          per page

            Genetic Interactions

            SETD1A role
            SETD1A genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
            No records match query. Try removing filters.
            Showing 0 - 0 of 0 rows
            per page