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

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expanding the Spectrum of Autosomal Dominant ATP6V1A-Related Disease: Case Report and Literature Review.
Title: Expanding the Spectrum of Autosomal Dominant ATP6V1A-Related Disease: Case Report and Literature Review.
ATP6V1A variants are associated with childhood epilepsy with favorable outcome.
Title: ATP6V1A variants are associated with childhood epilepsy with favorable outcome.
Hypoxia promotes EV secretion by impairing lysosomal homeostasis in HNSCC through negative regulation of ATP6V1A by HIF-1alpha.
Title: Hypoxia promotes EV secretion by impairing lysosomal homeostasis in HNSCC through negative regulation of ATP6V1A by HIF-1α.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Title: Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
Title: Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
This study provides evidence that de novo heterozygous ATP6V1A mutations cause a developmental encephalopathy with a pathomechanism that involves perturbations of lysosomal homeostasis and neuronal connectivity.
Title: De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
In conclusion, YY1 may play an important regulatory role in ATP6V1A expression with potential mechanistic and clinical implications in gastric cancer.
Title: Expression and Transcriptional Regulation of Human ATP6V1A Gene in Gastric Cancers.
We report biallelic mutations in ATP6V1E1 and ATP6V1A, respectively encoding the E1 and A subunits of the V1 domain of V-ATPase, as a cause of distinct metabolic and multisystemic cutis laxa entities.
Title: Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
V1A subunit of V-ATPase has a role in the progression and prognosis of gastric cancer.
Title: Expression and role of V1A subunit of V-ATPases in gastric cancer cells.
Data show that the cAMP/PKA/CREB signaling pathway initiates acidosis-induced V-ATPase trafficking in salivary ducts via regulation of Rab11b expression.
Title: Acidosis-induced V-ATPase trafficking in salivary ducts is initiated by cAMP/PKA/CREB pathway via regulation of Rab11b expression.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S275 (e-PCR)
- UniSTS:147992

A006E45 (e-PCR)
- UniSTS:80921

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-77211 (e-PCR)
- UniSTS:81477

SHGC-78613 (e-PCR)
- UniSTS:101717

D3S2929E (e-PCR)
- UniSTS:150913

G32335 (e-PCR)
- UniSTS:116927

STS-H75776 (e-PCR)
- UniSTS:29896

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

Process	Evidence Code	Pubs
involved_in Golgi lumen acidification	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to increased oxygen levels	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosomal lumen acidification	NAS Non-traceable Author Statement more info	PubMed
involved_in intracellular iron ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular pH reduction	NAS Non-traceable Author Statement more info	PubMed
involved_in lysosomal lumen acidification	IC Inferred by Curator more info	PubMed
involved_in lysosomal lumen acidification	NAS Non-traceable Author Statement more info	PubMed
involved_in proton motive force-driven ATP synthesis	IEA Inferred from Electronic Annotation more info
involved_in proton transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in proton transmembrane transport	IC Inferred by Curator 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

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 more info	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 more info	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

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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

EC 7.1.2.2

XP_047304261.1

EC 7.1.2.2

XP_047304262.1

EC 7.1.2.2

XP_054202813.1

EC 7.1.2.2

XP_054202814.1

EC 7.1.2.2

XP_054202815.1

EC 7.1.2.2

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.