Version: 8.0.0
Date: Tue Jan 28 2025
ATP6V1D
Homo sapiensHGNC:13527
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

ATP6V1D

Species
Homo sapiens
Symbol
ATP6V1D
Name
ATPase H+ transporting V1 subunit D
Synonyms
  • ATP6M
  • ATPase, H+ transporting lysosomal, member M
Biotype
protein coding gene
Automated Description
Predicted to enable proton-transporting ATPase activity, rotational mechanism. Involved in cilium assembly and protein localization to cilium. Located in several cellular components, including centrosome; cilium; and nucleoplasm. Part of proton-transporting V-type ATPase complex.
RGD Description
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11671
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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    Allele Synonyms
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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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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          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

          ATP6V1D molecule type
          Interactor gene
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          Interactor molecule type
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            Genetic Interactions

            ATP6V1D role
            ATP6V1D genetic perturbation
            Interactor gene
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            Interactor role
            Interactor genetic perturbation
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            Phenotype or trait
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