Version: 8.0.0
Date: Tue Jan 28 2025
ARL6IP1
Homo sapiensHGNC:697
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

ARL6IP1

Species
Homo sapiens
Symbol
ARL6IP1
Name
ARL6 interacting reticulophagy regulator 1
Synonyms
  • ADP ribosylation factor like GTPase 6 interacting protein 1
  • ADP-ribosylation factor GTPase 6 interacting protein 1
Biotype
protein coding gene
Automated Description
Enables identical protein binding activity. Involved in several processes, including endoplasmic reticulum tubular network organization; negative regulation of cysteine-type endopeptidase activity; and regulation of endoplasmic reticulum tubular network organization. Located in endoplasmic reticulum membrane. Is active in endoplasmic reticulum tubular network. Implicated in hereditary spastic paraplegia 61.
RGD Description
This gene belongs to the ARL6ip family and encodes a transmembrane protein that is predominantly localized to intracytoplasmic membranes. It is highly expressed in early myeloid progenitor cells and thought to be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Mutations in this gene are associated with spastic paraplegia 61 (SPG61). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR20952
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
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      Transgenic Alleles

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

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
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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

          ARL6IP1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            ARL6IP1 role
            ARL6IP1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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