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ATP6V1A ATPase H+ transporting V1 subunit A [ Homo sapiens (human) ]

Gene ID: 523, updated on 3-May-2020

Summary

Official Symbol
ATP6V1Aprovided by HGNC
Official Full Name
ATPase H+ transporting V1 subunit Aprovided by HGNC
Primary source
HGNC:HGNC:851
See related
Ensembl:ENSG00000114573 MIM:607027
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
HO68; VA68; VPP2; Vma1; ARCL2D; ATP6A1; IECEE3; ATP6V1A1
Summary
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle 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. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 61.4), kidney (RPKM 46.5) and 24 other tissues See more
Orthologs

Genomic context

See ATP6V1A in Genome Data Viewer
Location:
3q13.31
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (113747035..113812056)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (113465866..113530905)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene upstream transcription factor family member 3 Neighboring gene N-alpha-acetyltransferase 50, NatE catalytic subunit Neighboring gene GRAM domain containing 1C Neighboring gene ribosomal protein S10 pseudogene 4 Neighboring gene CTD nuclear envelope phosphatase 1 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?

Phenotypes

Associated conditions

Description Tests
Autosomal recessive cutis laxa type 2d
MedGen: C4479409 OMIM: 617403 GeneReviews: Not available
Compare labs
Epileptic encephalopathy, infantile or early childhood 3
MedGen: C4693934 OMIM: 618012 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog

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
ATP binding IEA
Inferred from Electronic Annotation
more info
 
proton-transporting ATPase activity, rotational mechanism IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
ATP metabolic process IEA
Inferred from Electronic Annotation
more info
 
cellular iron ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to increased oxygen levels 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
 
phagosome acidification TAS
Traceable Author Statement
more info
 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of macroautophagy NAS
Non-traceable Author Statement
more info
PubMed 
transferrin transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
lysosomal membrane HDA PubMed 
microvillus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 
proton-transporting V-type ATPase, V1 domain IEA
Inferred from Electronic Annotation
more info
 
proton-transporting two-sector ATPase complex TAS
Traceable Author Statement
more info
PubMed 
vacuolar membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
V-type proton ATPase catalytic subunit A
Names
ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
ATPase, H+ transporting, lysosomal, subunit A1
H(+)-transporting two-sector ATPase, subunit A
H+-transporting ATPase chain A, vacuolar (VA68 type)
V-ATPase 69 kDa subunit 1
V-ATPase A subunit 1
V-ATPase subunit A
vacuolar ATP synthase catalytic subunit A, ubiquitous isoform
vacuolar ATPase isoform VA68
vacuolar proton pump alpha subunit 1
vacuolar proton pump subunit alpha
NP_001681.2

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_047012.1 RefSeqGene

    Range
    5017..70038
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001690.4NP_001681.2  V-type proton ATPase catalytic subunit A

    See identical proteins and their annotated locations for NP_001681.2

    Status: REVIEWED

    Source sequence(s)
    AF339827, AK314779, BC012169, DC350361
    Consensus CDS
    CCDS2976.1
    UniProtKB/Swiss-Prot
    P38606
    Related
    ENSP00000273398.3, ENST00000273398.8
    Conserved Domains (1) summary
    TIGR01042
    Location:17609
    V-ATPase_V1_A; V-type (H+)-ATPase V1, A subunit

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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    113747035..113812056
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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