Version: 8.0.0
Date: Tue Jan 28 2025
CPSF1
Homo sapiensHGNC:2324
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

CPSF1

Species
Homo sapiens
Symbol
CPSF1
Name
cleavage and polyadenylation specific factor 1
Synonyms
  • cleavage and polyadenylation specific factor 1, 160kDa
  • cleavage and polyadenylation specificity factor 160 kDa subunit
Biotype
protein coding gene
Automated Description
Enables enzyme binding activity and mRNA 3'-UTR AU-rich region binding activity. Predicted to be involved in co-transcriptional RNA 3'-end processing, cleavage and polyadenylation pathway. Located in nucleoplasm. Part of mRNA cleavage and polyadenylation specificity factor complex. Implicated in myopia.
RGD Description
Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10644
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
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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

          CPSF1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            CPSF1 role
            CPSF1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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