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

Gene ID: 523, updated on 3-Nov-2024

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; AllianceGenome:HGNC:851
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; DEE93; 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
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Genomic context

See ATP6V1A in Genome Data Viewer
Location:
3q13.31
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (113747035..113812056)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (116467516..116533252)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (113465882..113530903)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene upstream transcription factor family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14608 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14609 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:113463940-113464676 Neighboring gene N-alpha-acetyltransferase 50, NatE catalytic subunit Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:113464677-113465412 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:113465413-113466148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14611 Neighboring gene GRAM domain containing 1C Neighboring gene ribosomal protein S10 pseudogene 4 Neighboring gene CTDNEP1 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

EBI GWAS Catalog

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

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
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables proton-transporting ATP synthase activity, rotational mechanism IEA
Inferred from Electronic Annotation
more info
 
enables proton-transporting ATPase activity, rotational mechanism IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in Golgi membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in clathrin-coated vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in endosome membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in extrinsic component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in lysosomal membrane HDA PubMed 
is_active_in lysosomal membrane IC
Inferred by Curator
more info
PubMed 
located_in lysosomal membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in microvillus IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
PubMed 
part_of proton-transporting V-type ATPase complex NAS
Non-traceable Author Statement
more info
PubMed 
part_of proton-transporting two-sector ATPase complex TAS
Traceable Author Statement
more info
PubMed 
located_in secretory granule IDA
Inferred from Direct Assay
more info
PubMed 
part_of vacuolar proton-transporting V-type ATPase, V1 domain IDA
Inferred from Direct Assay
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
V-type proton ATPase (V-ATPase) catalytic subunit A
vacuolar proton pump alpha subunit 1
vacuolar proton pump subunit alpha
vacuolar-type H(+)-ATPase
NP_001681.2
XP_047304261.1
XP_047304262.1
XP_054202813.1
XP_054202814.1
XP_054202815.1

NCBI Reference Sequences (RefSeq)

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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
    B2RBR8, B7Z1R5, D3DN75, P38606, Q53YD9, Q96DY6, Q9UHY3
    UniProtKB/TrEMBL
    A0A994J738
    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: 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_000003.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047448306.1XP_047304262.1  V-type proton ATPase catalytic subunit A isoform X1

    UniProtKB/Swiss-Prot
    B2RBR8, B7Z1R5, D3DN75, P38606, Q53YD9, Q96DY6, Q9UHY3
    Related
    ENSP00000515542.1, ENST00000703904.2
  2. XM_047448305.1XP_047304261.1  V-type proton ATPase catalytic subunit A isoform X1

    UniProtKB/Swiss-Prot
    B2RBR8, B7Z1R5, D3DN75, P38606, Q53YD9, Q96DY6, Q9UHY3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    116467516..116533252
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346838.1XP_054202813.1  V-type proton ATPase catalytic subunit A isoform X1

    UniProtKB/Swiss-Prot
    B2RBR8, B7Z1R5, D3DN75, P38606, Q53YD9, Q96DY6, Q9UHY3
  2. XM_054346840.1XP_054202815.1  V-type proton ATPase catalytic subunit A isoform X1

    UniProtKB/Swiss-Prot
    B2RBR8, B7Z1R5, D3DN75, P38606, Q53YD9, Q96DY6, Q9UHY3
  3. XM_054346839.1XP_054202814.1  V-type proton ATPase catalytic subunit A isoform X1

    UniProtKB/Swiss-Prot
    B2RBR8, B7Z1R5, D3DN75, P38606, Q53YD9, Q96DY6, Q9UHY3