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    Atp6ap1 ATPase, H+ transporting, lysosomal accessory protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 54411, updated on 27-Nov-2024

    Summary

    Official Symbol
    Atp6ap1provided by MGI
    Official Full Name
    ATPase, H+ transporting, lysosomal accessory protein 1provided by MGI
    Primary source
    MGI:MGI:109629
    See related
    Ensembl:ENSMUSG00000019087 AllianceGenome:MGI:109629
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    16A; CF2; AC45; C7-1; XAP-3; Atp6s1; VATPS1; Atp6ip1; mFLJ00383
    Summary
    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). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary adult (RPKM 71.2), genital fat pad adult (RPKM 67.3) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Atp6ap1 in Genome Data Viewer
    Location:
    X A7.3; X 37.96 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (73340753..73348297)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (74297097..74304721)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene deoxyribonuclease 1-like 1 Neighboring gene predicted gene 14846 Neighboring gene tafazzin, phospholipid-lysophospholipid transacylase Neighboring gene STARR-positive B cell enhancer ABC_E7694 Neighboring gene GDP dissociation inhibitor 1 Neighboring gene family with sequence similarity 50, member A Neighboring gene microRNA 7092

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ00383

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATPase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transporter activator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in clathrin-coated vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in endosome membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of proton-transporting V-type ATPase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in synaptic vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    V-type proton ATPase subunit S1
    Names
    ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1
    ATPase, H+ transporting, lysosomal interacting protein 1
    V-ATPase Ac45 subunit
    V-ATPase S1 accessory protein
    V-ATPase subunit Ac45
    V-ATPase subunit S1
    protein C7-1
    vacuolar H+ ATPase accessory subunit 1
    vacuolar proton pump subunit S1
    NP_001345304.1
    NP_001345309.1
    NP_001413171.1
    NP_001413172.1
    NP_061264.1
    XP_036017913.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001358375.2NP_001345304.1  V-type proton ATPase subunit S1 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AL807376
      UniProtKB/TrEMBL
      Q3THZ3, Q3TT23, Q3UCY7
      Conserved Domains (1) summary
      pfam05827
      Location:290436
      ATP-synt_S1; Vacuolar ATP synthase subunit S1 (ATP6S1)
    2. NM_001358380.2NP_001345309.1  V-type proton ATPase subunit S1 isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AL807376
      Consensus CDS
      CCDS90731.1
      UniProtKB/TrEMBL
      Q3TKX1, Q3UCY7
      Related
      ENSMUSP00000109808.4, ENSMUST00000114171.10
      Conserved Domains (1) summary
      pfam05827
      Location:315394
      ATP-synt_S1; Vacuolar ATP synthase subunit S1 (ATP6S1)
    3. NM_001426242.1NP_001413171.1  V-type proton ATPase subunit S1 isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AL807376
    4. NM_001426243.1NP_001413172.1  V-type proton ATPase subunit S1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL807376
    5. NM_018794.5NP_061264.1  V-type proton ATPase subunit S1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_061264.1

      Status: VALIDATED

      Source sequence(s)
      AL807376
      Consensus CDS
      CCDS30226.1
      UniProtKB/Swiss-Prot
      Q9R1Q9
      UniProtKB/TrEMBL
      Q3TT23, Q3TWN7, Q3UCY7
      Related
      ENSMUSP00000019231.6, ENSMUST00000019231.12
      Conserved Domains (1) summary
      pfam05827
      Location:414442
      ATP-synt_S1; Vacuolar ATP synthase subunit S1 (ATP6S1)

    RNA

    1. NR_189677.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL807376
    2. NR_189678.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL807376

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      73340753..73348297
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036162020.1XP_036017913.1  V-type proton ATPase subunit S1 isoform X1

      Conserved Domains (1) summary
      pfam05827
      Location:132278
      ATP-synt_S1; Vacuolar ATP synthase subunit S1 (ATP6S1)