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

    Gene ID: 108664, updated on 9-Dec-2024

    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 AllianceGenome:MGI:1914864
    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; SFDalpha; 0710001F19Rik
    Summary
    Predicted to enable proton-transporting ATPase activity, rotational mechanism. Involved in synaptic vesicle lumen acidification. Part of proton-transporting V-type ATPase complex. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Orthologous to human ATP6V1H (ATPase H+ transporting V1 subunit H). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in placenta adult (RPKM 22.7), CNS E18 (RPKM 15.8) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Atp6v1h in Genome Data Viewer
    Location:
    1 A1; 1 1.85 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (5153201..5233438)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (5082978..5163213)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene regulator of G-protein signaling 20 Neighboring gene STARR-seq mESC enhancer starr_00048 Neighboring gene STARR-seq mESC enhancer starr_00049 Neighboring gene predicted gene 16041 Neighboring gene STARR-seq mESC enhancer starr_00050 Neighboring gene STARR-seq mESC enhancer starr_00051 Neighboring gene heat shock protein 1 (chaperonin) pseudogene 17 Neighboring gene STARR-seq mESC enhancer starr_00054 Neighboring gene STARR-seq mESC enhancer starr_00056 Neighboring gene STARR-seq mESC enhancer starr_00057 Neighboring gene STARR-seq mESC enhancer starr_00060 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)
    • Endonuclease-mediated (4)  1 citation
    • Gene trapped (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC11985

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables proton-transporting ATPase activity, rotational mechanism IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in synaptic vesicle lumen acidification EXP
    Inferred from Experiment
    more info
    PubMed 
    involved_in synaptic vesicle lumen acidification IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in synaptic vesicle lumen acidification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of ATPase complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in clathrin-coated vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extrinsic component of synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in extrinsic component of synaptic vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of proton-transporting V-type ATPase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of proton-transporting V-type ATPase, V1 domain ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    part_of vacuolar proton-transporting V-type ATPase, V1 domain ISS
    Inferred from Sequence or Structural Similarity
    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_017176592.1
    XP_030111067.1
    XP_030111104.1
    XP_030111139.1
    XP_036008316.1
    XP_036008324.1
    XP_036008333.1
    XP_036008335.1
    XP_036008338.1
    XP_036008348.1
    XP_036008354.1
    XP_036008355.1

    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_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/TrEMBL
      A0A0A6YWP6, A0A0A6YX18
      Related
      ENSMUSP00000141797.2, ENSMUST00000192698.3
      Conserved Domains (1) summary
      cd00256
      Location:17447
      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 topology is ...
    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, Q921X8
      UniProtKB/TrEMBL
      A0A0A6YWP6
      Related
      ENSMUSP00000040756.8, ENSMUST00000044369.13
      Conserved Domains (1) summary
      cd00256
      Location:17465
      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 topology is ...

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      5153201..5233438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030255279.2XP_030111139.1  V-type proton ATPase subunit H isoform X8

      Conserved Domains (1) summary
      cd00256
      Location:1352
      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 topology is ...
    2. XM_006495433.4XP_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, Q921X8
      UniProtKB/TrEMBL
      A0A0A6YWP6
      Conserved Domains (1) summary
      cd00256
      Location:17465
      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 topology is ...
    3. XM_036152455.1XP_036008348.1  V-type proton ATPase subunit H isoform X5

      UniProtKB/TrEMBL
      A0A0A6YWP6
      Conserved Domains (1) summary
      cd00256
      Location:17417
      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 topology is ...
    4. XM_030255207.2XP_030111067.1  V-type proton ATPase subunit H isoform X4

      UniProtKB/TrEMBL
      A0A0A6YWP6
      Conserved Domains (1) summary
      cd00256
      Location:1425
      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 topology is ...
    5. XM_036152440.1XP_036008333.1  V-type proton ATPase subunit H isoform X4

      UniProtKB/TrEMBL
      A0A0A6YWP6
      Conserved Domains (1) summary
      cd00256
      Location:1425
      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 topology is ...
    6. XM_006495436.5XP_006495499.1  V-type proton ATPase subunit H isoform X7

      Conserved Domains (1) summary
      cd00256
      Location:1370
      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 topology is ...
    7. XM_030255244.2XP_030111104.1  V-type proton ATPase subunit H isoform X8

      Conserved Domains (1) summary
      cd00256
      Location:1352
      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 topology is ...
    8. XM_036152431.1XP_036008324.1  V-type proton ATPase subunit H isoform X3

      UniProtKB/TrEMBL
      A0A0A6YWP6
      Conserved Domains (1) summary
      cd00256
      Location:17435
      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 topology is ...
    9. XM_036152445.1XP_036008338.1  V-type proton ATPase subunit H isoform X5

      UniProtKB/TrEMBL
      A0A0A6YWP6
      Conserved Domains (1) summary
      cd00256
      Location:17417
      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 topology is ...
    10. XM_036152423.1XP_036008316.1  V-type proton ATPase subunit H isoform X2

      UniProtKB/TrEMBL
      A0A0A6YWP6, A0A0A6YX18
      Conserved Domains (1) summary
      cd00256
      Location:17447
      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 topology is ...
    11. XM_036152462.1XP_036008355.1  V-type proton ATPase subunit H isoform X6

      UniProtKB/TrEMBL
      A0A0A6YWP6
      Conserved Domains (1) summary
      cd00256
      Location:1407
      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 topology is ...
    12. XM_036152442.1XP_036008335.1  V-type proton ATPase subunit H isoform X4

      UniProtKB/TrEMBL
      A0A0A6YWP6
      Conserved Domains (1) summary
      cd00256
      Location:1425
      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 topology is ...
    13. XM_036152461.1XP_036008354.1  V-type proton ATPase subunit H isoform X6

      UniProtKB/TrEMBL
      A0A0A6YWP6
      Conserved Domains (1) summary
      cd00256
      Location:1407
      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 topology is ...
    14. XM_011238336.4XP_011236638.1  V-type proton ATPase subunit H isoform X10

      See identical proteins and their annotated locations for XP_011236638.1

      Conserved Domains (1) summary
      cl21727
      Location:1258
      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 topology is ...
    15. XM_006495439.4XP_006495502.1  V-type proton ATPase subunit H isoform X10

      See identical proteins and their annotated locations for XP_006495502.1

      Conserved Domains (1) summary
      cl21727
      Location:1258
      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 topology is ...
    16. XM_017321103.2XP_017176592.1  V-type proton ATPase subunit H isoform X10

      Conserved Domains (1) summary
      cl21727
      Location:1258
      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 topology is ...
    17. XM_006495437.4XP_006495500.1  V-type proton ATPase subunit H isoform X9

      Conserved Domains (1) summary
      cl21727
      Location:2304
      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 topology is ...