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ATP6V0A4 ATPase H+ transporting V0 subunit a4 [ Homo sapiens (human) ]

Gene ID: 50617, updated on 5-Jul-2020

Summary

Official Symbol
ATP6V0A4provided by HGNC
Official Full Name
ATPase H+ transporting V0 subunit a4provided by HGNC
Primary source
HGNC:HGNC:866
See related
Ensembl:ENSG00000105929 MIM:605239
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
A4; STV1; VPH1; VPP2; RTA1C; RTADR; ATP6N2; RDRTA2; ATP6N1B
Summary
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]
Expression
Biased expression in kidney (RPKM 28.8), salivary gland (RPKM 15.2) and 1 other tissue See more
Orthologs

Genomic context

See ATP6V0A4 in Genome Data Viewer
Location:
7q34
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (138706294..138799839, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (138391039..138484305, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene SVOP like Neighboring gene ribosomal protein L17 pseudogene 27 Neighboring gene ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 2 Neighboring gene transmembrane protein 213 Neighboring gene KIAA1549 Neighboring gene RNA, U6 small nuclear 1272, pseudogene Neighboring gene uncharacterized LOC107986852 Neighboring gene zinc finger CCCH-type containing, antiviral 1 like

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

NHGRI GWAS Catalog

Description
Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC130016, MGC130017

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
proton-transporting ATPase activity, rotational mechanism IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
excretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
ossification IMP
Inferred from Mutant Phenotype
more info
PubMed 
phagosome acidification TAS
Traceable Author Statement
more info
 
proton transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of pH IMP
Inferred from Mutant Phenotype
more info
PubMed 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
transferrin transport TAS
Traceable Author Statement
more info
 
vacuolar acidification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
apical part of cell IDA
Inferred from Direct Assay
more info
PubMed 
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
brush border membrane IDA
Inferred from Direct Assay
more info
PubMed 
endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
endosome membrane TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane HDA PubMed 
phagocytic vesicle membrane TAS
Traceable Author Statement
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with vacuolar proton-transporting V-type ATPase complex IDA
Inferred from Direct Assay
more info
PubMed 
vacuolar proton-transporting V-type ATPase, V0 domain IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
V-type proton ATPase 116 kDa subunit a isoform 4; V-type proton ATPase 116 kDa subunit a
Names
ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B
ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 2 (38kD)
ATPase, H+ transporting, lysosomal V0 subunit a4
H(+)-transporting two-sector ATPase, noncatalytic accessory protein 1B
V-ATPase 116 kDa
vacuolar proton pump 116 kDa accessory subunit
vacuolar proton pump, subunit 2
vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform
NP_065683.2
NP_570855.2
NP_570856.2
XP_005250450.1
XP_005250451.1

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.

Genomic

  1. NG_008145.1 RefSeqGene

    Range
    5001..96903
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020632.3NP_065683.2  V-type proton ATPase 116 kDa subunit a isoform 4

    See identical proteins and their annotated locations for NP_065683.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longest transcript. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AF245517, BC109304, BC109305, DB230144
    Consensus CDS
    CCDS5849.1
    UniProtKB/Swiss-Prot
    Q9HBG4
    UniProtKB/TrEMBL
    A0A024R791
    Related
    ENSP00000308122.2, ENST00000310018.7
    Conserved Domains (2) summary
    COG1269
    Location:28831
    NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]
    pfam01496
    Location:28830
    V_ATPase_I; V-type ATPase 116kDa subunit family
  2. NM_130840.3NP_570855.2  V-type proton ATPase 116 kDa subunit a isoform 4

    See identical proteins and their annotated locations for NP_570855.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AF245517, BC109304, BC109305, DB230144
    Consensus CDS
    CCDS5849.1
    UniProtKB/Swiss-Prot
    Q9HBG4
    UniProtKB/TrEMBL
    A0A024R791
    Related
    ENSP00000253856.6, ENST00000353492.4
    Conserved Domains (2) summary
    COG1269
    Location:28831
    NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]
    pfam01496
    Location:28830
    V_ATPase_I; V-type ATPase 116kDa subunit family
  3. NM_130841.2NP_570856.2  V-type proton ATPase 116 kDa subunit a isoform 4

    See identical proteins and their annotated locations for NP_570856.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AF245517, BC109304, BC109305, DA857655
    Consensus CDS
    CCDS5849.1
    UniProtKB/Swiss-Prot
    Q9HBG4
    UniProtKB/TrEMBL
    A0A024R791
    Related
    ENSP00000376774.1, ENST00000393054.5
    Conserved Domains (2) summary
    COG1269
    Location:28831
    NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]
    pfam01496
    Location:28830
    V_ATPase_I; V-type ATPase 116kDa subunit family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    138706294..138799839 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250394.3XP_005250451.1  V-type proton ATPase 116 kDa subunit a isoform X1

    See identical proteins and their annotated locations for XP_005250451.1

    UniProtKB/Swiss-Prot
    Q9HBG4
    UniProtKB/TrEMBL
    A0A024R791
    Conserved Domains (2) summary
    COG1269
    Location:28831
    NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]
    pfam01496
    Location:28830
    V_ATPase_I; V-type ATPase 116kDa subunit family
  2. XM_005250393.1XP_005250450.1  V-type proton ATPase 116 kDa subunit a isoform X1

    See identical proteins and their annotated locations for XP_005250450.1

    UniProtKB/Swiss-Prot
    Q9HBG4
    UniProtKB/TrEMBL
    A0A024R791
    Conserved Domains (2) summary
    COG1269
    Location:28831
    NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]
    pfam01496
    Location:28830
    V_ATPase_I; V-type ATPase 116kDa subunit family
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