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Atp6ap1 Gene Detail
Summary
  • Symbol
    Atp6ap1
  • Name
    ATPase, H+ transporting, lysosomal accessory protein 1
  • Synonyms
    16A, AC45, Atp6ip1, Atp6s1, CF2, VATPS1, XAP-3
  • Feature Type
    protein coding gene
  • IDs
    MGI:109629
    NCBI Gene: 54411
  • Gene Overview
    MyGene.info: ATP6AP1
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    ChrX:74297097-74304721 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      7625 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 37.96 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    ATP6AP1, ATPase H+ transporting accessory protein 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ATP6AP1, ATPase H+ transporting accessory protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    16A, Ac45, ATP6IP1, ATP6S1, CF2, VATPS1, XAP3, XAP-3
  • Links
    NCBI Gene ID: 537
    neXtProt AC: NX_Q15904
    UniProt: Q15904

  • Chr Location
    Xq28; chrX:154428632-154436517 (+)  GRCh38.p7
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    6 phenotypes from 2 alleles in 2 genetic backgrounds
    1 images
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    22
  • GO References
    5
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    129
  • Tissues
    100
  • cDNA Data
    259
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000017676 VEGA Gene Model | MGI Sequence Detail 7625 C57BL/6J ±  kb
    transcript OTTMUST00000042874 VEGA | MGI Sequence Detail 2189 Not Applicable  
    polypeptide OTTMUSP00000019259 VEGA | MGI Sequence Detail 463 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      10 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 267
      Genomic 7
      cDNA 260

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-39628, MGI:2147865, MGI:2147998
    References
    more
    • Summaries
      All 44
      Developmental Gene Expression 3
      Gene Ontology 5
      Phenotypes 11
    • Earliest
      J:26634 Rivella S, et al., A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes. Genomics. 1995 Aug 10;28(3):377-82
    • Latest
      J:211452 Yang DQ, et al., V-ATPase subunit ATP6AP1 (Ac45) regulates osteoclast differentiation, extracellular acidification, lysosomal trafficking, and protease exocytosis in osteoclast-mediated bone resorption. J Bone Miner Res. 2012 Aug;27(8):1695-707
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    05/15/2018
    MGI 6.12     		The Jackson Laboratory