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Protein Coding Gene : Atp6ap1 ATPase, H+ transporting, lysosomal accessory protein 1

Primary Identifier  MGI:109629 Organism  mouse, laboratory
Chromosome  X NCBI Gene Number  54411
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables ATPase activator activity; small GTPase binding activity; and transporter activator activity. Involved in endosome to plasma membrane protein transport; osteoclast development; and synaptic vesicle lumen acidification. Is active in endosome membrane. Is expressed in integumental system; nervous system; sensory organ; and tail. Human ortholog(s) of this gene implicated in immunodeficiency 47. Orthologous to human ATP6AP1 (ATPase H+ transporting accessory protein 1).
PHENOTYPE: A targeted mutation in this X-linked gene was made in male ES cells, but no viable chimeric mice were produced, suggesting a requirement for this gene in prenatal development. [provided by MGI curators]
  • synonyms:
  • XAP-3,
  • Atp6ip1,
  • ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1,
  • MGI:2147998,
  • ATPase, H+ transporting, lysosomal accessory protein 1,
  • MGD-MRK-39628,
  • Atp6ap1,
  • MGI:2147865,
  • AC45,
  • AW108110,
  • Atp6s1,
  • expressed sequence AI316502,
  • expressed sequence AW108110,
  • 16A,
  • AI316502,
  • VATPS1,
  • ATPase, H+ transporting, lysosomal interacting protein 1,
  • CF2

Features --> Cross References

Genome

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0 CDSs

0 Exons

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0 Involved In Mutations

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0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

12 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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