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    ATP6V1H ATPase H+ transporting V1 subunit H [ Homo sapiens (human) ]

    Gene ID: 51606, updated on 3-Dec-2024

    Summary

    Official Symbol
    ATP6V1Hprovided by HGNC
    Official Full Name
    ATPase H+ transporting V1 subunit Hprovided by HGNC
    Primary source
    HGNC:HGNC:18303
    See related
    Ensembl:ENSG00000047249 MIM:608861; AllianceGenome:HGNC:18303
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SFD; NBP1; VMA13; CGI-11; MSTP042; SFDbeta; SFDalpha
    Summary
    This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
    Expression
    Ubiquitous expression in brain (RPKM 40.0), kidney (RPKM 25.7) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ATP6V1H in Genome Data Viewer
    Location:
    8q11.23
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (53715543..53843245, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (54092959..54220638, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (54628103..54755805, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr8:54461749-54462250 Neighboring gene mitogen-activated protein kinase 6 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:54522094-54522758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:54554567-54555068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19192 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:54570356-54571160 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:54571161-54571965 Neighboring gene NANOG hESC enhancer GRCh37_chr8:54572274-54572814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:54605084-54605594 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:54605595-54606103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:54612999-54613500 Neighboring gene chromosome 5 open reading frame 13 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27358 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:54640179-54641378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27359 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27360 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27361 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:54789287-54789787 Neighboring gene Sharpr-MPRA regulatory region 5984 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19195 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:54793331-54793962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:54793963-54794594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27363 Neighboring gene regulator of G protein signaling 20 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27366 Neighboring gene RPS27A pseudogene 13 Neighboring gene RNA, U6 small nuclear 1331, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef-induced activation of p61Hck is required for the formation of multinucleated giant cells (MGCs), which is dependent on lysosomal proteins including vacuolar adenosine triphosphatase and proteases participated in Nef-induced MGCs PubMed
    nef Vacuolar ATPase subunit H (V1H) binds to the C-terminal flexible loop in HIV-1 Nef; a 15-residue oligopeptide, which is derived from positions 167-181 in Nef, specifically blocks the binding of Nef to V1H PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to ATP hydrolysis activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables enzyme regulator activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables proton-transporting ATPase activity, rotational mechanism IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in Golgi lumen acidification NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in endosomal lumen acidification NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in intracellular pH reduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in lysosomal lumen acidification NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in proton transmembrane transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of macroautophagy NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in synaptic vesicle lumen acidification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vacuolar acidification NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    V-type proton ATPase subunit H
    Names
    ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H
    V-ATPase 50/57 kDa subunits
    V-ATPase subunit H
    nef-binding protein 1
    protein VMA13 homolog
    vacuolar ATP synthase subunit H
    vacuolar ATPase subunit H
    vacuolar proton pump subunit H
    vacuolar proton pump subunit SFD
    NP_057025.2
    NP_998784.1
    NP_998785.1
    XP_006716518.1
    XP_011515844.1
    XP_054216619.1
    XP_054216620.1

    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_015941.4NP_057025.2  V-type proton ATPase subunit H isoform 1

      See identical proteins and their annotated locations for NP_057025.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AI741756, BC025275, BG197001, DA147153
      Consensus CDS
      CCDS6153.1
      UniProtKB/Swiss-Prot
      B3KMR0, Q6PK44, Q9H3E3, Q9UI12, Q9Y300
      UniProtKB/TrEMBL
      B3KUZ7
      Related
      ENSP00000352522.2, ENST00000359530.7
      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 ...
    2. NM_213619.3NP_998784.1  V-type proton ATPase subunit H isoform 2

      See identical proteins and their annotated locations for NP_998784.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AF113222, AI741756, BG197001
      Consensus CDS
      CCDS6154.1
      UniProtKB/TrEMBL
      B3KUZ7
      Related
      ENSP00000347359.3, ENST00000355221.7
      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 ...
    3. NM_213620.3NP_998785.1  V-type proton ATPase subunit H isoform 1

      See identical proteins and their annotated locations for NP_998785.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AC113194, AF298777, AI741756, AK098305, BG197001, DB464555
      Consensus CDS
      CCDS6153.1
      UniProtKB/Swiss-Prot
      B3KMR0, Q6PK44, Q9H3E3, Q9UI12, Q9Y300
      UniProtKB/TrEMBL
      B3KUZ7
      Related
      ENSP00000379995.2, ENST00000396774.6
      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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      53715543..53843245 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716455.4XP_006716518.1  V-type proton ATPase subunit H isoform X1

      See identical proteins and their annotated locations for XP_006716518.1

      UniProtKB/TrEMBL
      B3KUZ7
      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. XM_011517542.2XP_011515844.1  V-type proton ATPase subunit H isoform X2

      See identical proteins and their annotated locations for XP_011515844.1

      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      54092959..54220638 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360644.1XP_054216619.1  V-type proton ATPase subunit H isoform X1

      UniProtKB/TrEMBL
      B3KUZ7
    2. XM_054360645.1XP_054216620.1  V-type proton ATPase subunit H isoform X2