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    Atp6v1h ATPase, H+ transporting, lysosomal V1 subunit H [ Mus musculus (house mouse) ]

    Gene ID: 108664, updated on 31-Jan-2019

    Summary

    Official Symbol
    Atp6v1hprovided by MGI
    Official Full Name
    ATPase, H+ transporting, lysosomal V1 subunit Hprovided by MGI
    Primary source
    MGI:MGI:1914864
    See related
    Ensembl:ENSMUSG00000033793
    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
    SFD; VMA13; CGI-11; SFDbeta; AU022349; SFDalpha; 0710001F19Rik
    Expression
    Ubiquitous expression in placenta adult (RPKM 22.7), CNS E18 (RPKM 15.8) and 28 other tissues See more
    Orthologs

    Genomic context

    See Atp6v1h in Genome Data Viewer
    Location:
    1; 1 A1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 1 NC_000067.6 (5082978..5163213)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 1 NC_000067.5 (5073254..5152630)

    Chromosome 1 - NC_000067.6Genomic Context describing neighboring genes Neighboring gene regulator of G-protein signaling 20 Neighboring gene predicted gene 16041 Neighboring gene heat shock protein 1 (chaperonin) pseudogene 17 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide pseudogene Neighboring gene proteasome (prosome, macropain) subunit, alpha type 7 pseudogene

    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

    Variation

    Alleles

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

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC11985

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    proton-transporting ATPase activity, rotational mechanism IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    ATP hydrolysis coupled proton transport IEA
    Inferred from Electronic Annotation
    more info
     
    endocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    vacuolar proton-transporting V-type ATPase, V1 domain IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    V-type proton ATPase subunit H
    Names
    ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H
    H+ transporting ATPase lysosomal V1 subunit H
    V-ATPase H subunit
    V-ATPase subunit H
    vacuolar ATP synthase subunit H
    vacuolar ATPase subunit H
    vacuolar proton pump H subunit
    vacuolar proton pump subunit H
    NP_001297371.1
    NP_598587.2
    XP_006495496.1
    XP_006495499.1
    XP_006495500.1
    XP_006495502.1
    XP_011236638.1
    XP_011236639.1
    XP_017176592.1

    NCBI Reference Sequences (RefSeq)

    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_001310442.1NP_001297371.1  V-type proton ATPase subunit H isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC131067, AK078767, BY267800, CK621648
      Consensus CDS
      CCDS78541.1
      UniProtKB/Swiss-Prot
      Q8BVE3
      UniProtKB/TrEMBL
      A0A0A6YX18
      Related
      ENSMUSP00000141797.1, ENSMUST00000192698.2
      Conserved Domains (1) summary
      cd00256
      Location:17447
      VATPase_H; VATPase_H, regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The ...
    2. NM_133826.5NP_598587.2  V-type proton ATPase subunit H isoform 1

      See identical proteins and their annotated locations for NP_598587.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC131067, AK078767, BY267800
      Consensus CDS
      CCDS14808.1
      UniProtKB/Swiss-Prot
      Q8BVE3
      Related
      ENSMUSP00000040756.7, ENSMUST00000044369.12
      Conserved Domains (1) summary
      cd00256
      Location:17465
      VATPase_H; VATPase_H, regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The ...

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000067.6 Reference GRCm38.p4 C57BL/6J

      Range
      5082978..5163213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006495433.3XP_006495496.1  V-type proton ATPase subunit H isoform X1

      See identical proteins and their annotated locations for XP_006495496.1

      UniProtKB/Swiss-Prot
      Q8BVE3
      Conserved Domains (1) summary
      cd00256
      Location:17465
      VATPase_H; VATPase_H, regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The ...
    2. XM_006495436.3XP_006495499.1  V-type proton ATPase subunit H isoform X2

      Conserved Domains (1) summary
      cd00256
      Location:1370
      VATPase_H; VATPase_H, regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The ...
    3. XM_011238336.2XP_011236638.1  V-type proton ATPase subunit H isoform X4

      See identical proteins and their annotated locations for XP_011236638.1

      Conserved Domains (1) summary
      cl21727
      Location:1258
      VATPase_H; VATPase_H, regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The ...
    4. XM_006495439.3XP_006495502.1  V-type proton ATPase subunit H isoform X4

      See identical proteins and their annotated locations for XP_006495502.1

      Conserved Domains (1) summary
      cl21727
      Location:1258
      VATPase_H; VATPase_H, regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The ...
    5. XM_017321103.1XP_017176592.1  V-type proton ATPase subunit H isoform X4

      Conserved Domains (1) summary
      cl21727
      Location:1258
      VATPase_H; VATPase_H, regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The ...
    6. XM_011238337.2XP_011236639.1  V-type proton ATPase subunit H isoform X4

      See identical proteins and their annotated locations for XP_011236639.1

      Conserved Domains (1) summary
      cl21727
      Location:1258
      VATPase_H; VATPase_H, regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The ...
    7. XM_006495437.3XP_006495500.1  V-type proton ATPase subunit H isoform X3

      Conserved Domains (1) summary
      cl21727
      Location:2304
      VATPase_H; VATPase_H, regulatory vacuolar ATP synthase subunit H (Vma13p); activation component of the peripheral V1 complex of V-ATPase, a heteromultimeric enzyme which uses ATP to actively transport protons into organelles and extracellular compartments. The ...
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