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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
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:74297097-74304721 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 37.96 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    10 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109629
 protein coding gene ChrX:74297097-74304721 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035839
 protein coding gene ChrX:70095804-70104183 (+)
A/J MGP_AJ_G0035820
 protein coding gene ChrX:70281175-70288883 (+)
AKR/J MGP_AKRJ_G0035745
 protein coding gene ChrX:72183054-72190660 (+)
BALB/cJ MGP_BALBcJ_G0035805
 protein coding gene ChrX:69304070-69315068 (+)
C3H/HeJ MGP_C3HHeJ_G0035510
 protein coding gene ChrX:70571295-70578859 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036335
 protein coding gene ChrX:72256940-72264558 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033179
 protein coding gene ChrX:69347203-69354885 (+)
CAST/EiJ MGP_CASTEiJ_G0034801
 protein coding gene ChrX:55950594-55958177 (+)
CBA/J MGP_CBAJ_G0035485
 protein coding gene ChrX:74252978-74261188 (+)
DBA/2J MGP_DBA2J_G0035642
 protein coding gene ChrX:69740601-69748871 (+)
FVB/NJ MGP_FVBNJ_G0035586
 protein coding gene ChrX:69084267-69091646 (+)
LP/J MGP_LPJ_G0035727
 protein coding gene ChrX:70875861-70883529 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035624
 protein coding gene ChrX:76816911-76824630 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036357
 protein coding gene ChrX:69913091-69920668 (+)
PWK/PhJ MGP_PWKPhJ_G0034500
 protein coding gene ChrX:53912340-53920496 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034334
 protein coding gene ChrX:56820731-56828365 (+)
WSB/EiJ MGP_WSBEiJ_G0034942
 protein coding gene ChrX:69195616-69204648 (+)



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
Human Diseases
more
  • Diseases
    1 with human ATP6AP1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
less
  • All GO Annotations
    24
  • GO References
    6
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
    760
  • Tissues
    100
  • cDNA Data
    260
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 54411 NCBI Gene Model | MGI Sequence Detail 7625 C57BL/6J ±  kb
    transcript NM_001358380 RefSeq | MGI Sequence Detail 2255 C57BL/6  
    polypeptide Q9R1Q9 UniProt | EBI | MGI Sequence Detail 463 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 268
      Genomic 7
      cDNA 261

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-39628, MGI:2147865, MGI:2147998
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 3
      Gene Ontology 6
      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:293348 Matsumoto N, et al., V-ATPase a3 isoform mutations identified in osteopetrosis patients abolish its expression and disrupt osteoclast function. Exp Cell Res. 2020 Apr 15;389(2):111901
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    01/12/2021
    MGI 6.16     		The Jackson Laboratory