Version: 8.0.0
Date: Tue Jan 28 2025
HNRNPA1
Homo sapiensHGNC:5031
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

HNRNPA1

Species
Homo sapiens
Symbol
HNRNPA1
Name
heterogeneous nuclear ribonucleoprotein A1
Synonyms
  • ALS19
  • ALS20
Biotype
protein coding gene
Automated Description
Enables identical protein binding activity; nucleic acid binding activity; and protein domain specific binding activity. Involved in several processes, including cellular response to sodium arsenite; nucleocytoplasmic transport; and regulation of telomere maintenance via telomerase. Located in cytoplasm and nucleoplasm. Part of catalytic step 2 spliceosome. Implicated in amyotrophic lateral sclerosis type 20; distal myopathy 3; inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3; and tropical spastic paraparesis. Biomarker of Alzheimer's disease; hepatocellular carcinoma; and lung non-small cell carcinoma.
RGD Description
This gene encodes a member of a family of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs), which are RNA-binding proteins that associate with pre-mRNAs in the nucleus and influence pre-mRNA processing, as well as other aspects of mRNA metabolism and transport. The protein encoded by this gene is one of the most abundant core proteins of hnRNP complexes and plays a key role in the regulation of alternative splicing. Mutations in this gene have been observed in individuals with amyotrophic lateral sclerosis 20. Multiple alternatively spliced transcript variants have been found. There are numerous pseudogenes of this gene distributed throughout the genome. [provided by RefSeq, Feb 2016]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR48026
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
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    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
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

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

          Sequence Details

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          Expression

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

          Molecular Interactions

          HNRNPA1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            HNRNPA1 role
            HNRNPA1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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