Format

Send to:

Choose Destination

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

Gene ID: 51606, updated on 3-Oct-2020

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
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

Genomic context

See ATP6V1H in Genome Data Viewer
Location:
8q11.23
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (53715543..53843245, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (54628103..54756099, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase 6 pseudogene 1 Neighboring gene chromosome 5 open reading frame 13 pseudogene Neighboring gene Sharpr-MPRA regulatory region 5984 Neighboring gene regulator of G protein signaling 20 Neighboring gene RPS27A pseudogene 13

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?

Phenotypes

Associated conditions

Description Tests
Genome-wide association of mood-incongruent psychotic bipolar disorder.
GeneReviews: Not available

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to ATPase activity NAS
Non-traceable Author Statement
more info
PubMed 
enzyme regulator activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
proton-transporting ATPase activity, rotational mechanism IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
endocytosis IDA
Inferred from Direct Assay
more info
PubMed 
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
phagosome acidification TAS
Traceable Author Statement
more info
 
proton transmembrane transport NAS
Non-traceable Author Statement
more info
PubMed 
regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
regulation of defense response to virus by virus TAS
Traceable Author Statement
more info
 
regulation of macroautophagy NAS
Non-traceable Author Statement
more info
PubMed 
transferrin transport TAS
Traceable Author Statement
more info
 
vacuolar acidification NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
lysosomal membrane HDA PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
vacuolar proton-transporting V-type ATPase, V1 domain 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

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_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
    Q9UI12
    UniProtKB/TrEMBL
    A0A024R7U9
    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/Swiss-Prot
    Q9UI12
    UniProtKB/TrEMBL
    A0A024R7X3
    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
    Q9UI12
    UniProtKB/TrEMBL
    A0A024R7U9, 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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006716455.3XP_006716518.1  V-type proton ATPase subunit H isoform X1

    See identical proteins and their annotated locations for XP_006716518.1

    UniProtKB/Swiss-Prot
    Q9UI12
    UniProtKB/TrEMBL
    A0A024R7X3
    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_011517542.1XP_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; 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 ...
Support Center