Version: 8.0.0
Date: Tue Jan 28 2025
RILPL1
Homo sapiensHGNC:26814
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

RILPL1

Species
Homo sapiens
Symbol
RILPL1
Name
Rab interacting lysosomal protein like 1
Synonyms
  • FLJ39378
  • GAPDH competitor of SIAH protein enhances life
Biotype
protein coding gene
Automated Description
Predicted to enable dynein light intermediate chain binding activity and small GTPase binding activity. Predicted to be involved in several processes, including epithelial cell morphogenesis; nitric oxide mediated signal transduction; and protein transport from ciliary membrane to plasma membrane. Located in cytosol; nucleoplasm; and plasma membrane. Implicated in oculopharyngodistal myopathy 4.
RGD Description
Predicted to enable dynein light intermediate chain binding activity and small GTPase binding activity. Predicted to be involved in several processes, including epithelial cell morphogenesis; nitric oxide mediated signal transduction; and protein transport from ciliary membrane to plasma membrane. Located in cytosol; nucleoplasm; and plasma membrane. Implicated in oculopharyngodistal myopathy 4. [provided by Alliance of Genome Resources, Nov 2024]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR21502
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
          Viewer Help
          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

          RILPL1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            RILPL1 role
            RILPL1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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