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... See more...

Aliases for ATP6V1A Gene

Aliases for ATP6V1A Gene

  • ATPase H+ Transporting V1 Subunit A 2 3 5
  • ATPase, H+ Transporting, Lysosomal 70kDa, V1 Subunit A 2 3
  • V-Type Proton ATPase Catalytic Subunit A 3 4
  • Vacuolar Proton Pump Subunit Alpha 3 4
  • V-ATPase Subunit A 3 4
  • ATP6V1A1 3 4
  • ATP6A1 3 4
  • VA68 2 3
  • VPP2 3 4
  • Vma1 2 3
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Alpha Polypeptide, 70kD, Isoform 1 2
  • H+-Transporting ATPase Chain A, Vacuolar (VA68 Type) 3
  • ATPase, H+ Transporting, Lysosomal, Subunit A1 3
  • H(+)-Transporting Two-Sector ATPase, Subunit A 3
  • Vacuolar Proton Pump Alpha Subunit 1 3
  • Vacuolar ATPase Isoform VA68 4
  • V-ATPase 69 KDa Subunit 1 3
  • V-ATPase 69 KDa Subunit 4
  • V-ATPase A Subunit 1 3
  • EC 3.6.3.14 50
  • EC 7.1.2.2 4
  • EC 3.6.3 50
  • ATP6V1A 5
  • ARCL2D 3
  • IECEE3 3
  • DEE93 3
  • HO68 3

External Ids for ATP6V1A Gene

Previous HGNC Symbols for ATP6V1A Gene

  • VPP2
  • ATP6A1
  • ATP6V1A1

Previous GeneCards Identifiers for ATP6V1A Gene

  • GC03P114747
  • GC03P114786
  • GC03P114948
  • GC03P113465
  • GC03P110840

Summaries for ATP6V1A Gene

Entrez Gene Summary for ATP6V1A Gene

  • 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]

GeneCards Summary for ATP6V1A Gene

ATP6V1A (ATPase H+ Transporting V1 Subunit A) is a Protein Coding gene. Diseases associated with ATP6V1A include Developmental And Epileptic Encephalopathy 93 and Cutis Laxa, Autosomal Recessive, Type Iid. Among its related pathways are Insulin receptor recycling and Rheumatoid arthritis. Gene Ontology (GO) annotations related to this gene include proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is ATP6V1B2.

UniProtKB/Swiss-Prot Summary for ATP6V1A Gene

  • Catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633). May play a role in neurite development and synaptic connectivity (PubMed:29668857).

Tocris Summary for ATP6V1A Gene

  • H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.

Gene Wiki entry for ATP6V1A Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP6V1A Gene

Genomics for ATP6V1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP6V1A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP6V1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP6V1A

Top Transcription factor binding sites by QIAGEN in the ATP6V1A gene promoter:
  • AP-1
  • E2F
  • E2F-1
  • E2F-5
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for ATP6V1A Gene

Latest Assembly
chr3:113,747,033-113,812,056
(GRCh38/hg38)
Size:
65,024 bases
Orientation:
Plus strand

Previous Assembly
chr3:113,465,882-113,530,903
(GRCh37/hg19 by Entrez Gene)
Size:
65,022 bases
Orientation:
Plus strand

chr3:113,465,866-113,530,903
(GRCh37/hg19 by Ensembl)
Size:
65,038 bases
Orientation:
Plus strand

Genomic View for ATP6V1A Gene

Genes around ATP6V1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6V1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V1A Gene

Proteins for ATP6V1A Gene

  • Protein details for ATP6V1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P38606-VATA_HUMAN
    Recommended name:
    V-type proton ATPase catalytic subunit A
    Protein Accession:
    P38606
    Secondary Accessions:
    • B2RBR8
    • B7Z1R5
    • D3DN75
    • Q53YD9
    • Q96DY6
    • Q9UHY3

    Protein attributes for ATP6V1A Gene

    Size:
    617 amino acids
    Molecular mass:
    68304 Da
    Quaternary structure:
    • V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components: subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component: the proteolipid protein).

    Alternative splice isoforms for ATP6V1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP6V1A Gene

Selected DME Specific Peptides for ATP6V1A Gene

P38606:
  • IVQVFWGL
  • GSHITGGD
  • NWLISYS
  • LSKYSNS
  • YIAPPGNY
  • ASFYERAG
  • GEIIRLE
  • HKIMLPP
  • RPVTEKL
  • VSGPVVTA
  • QVYEETSG
  • PLSVELGPG
  • AREASIY
  • YERAGRV
  • CPFYKTVGML
  • EMPADSGYPAYL
  • YVGCGERGNEMSEVLRDFPEL
  • KEILQEEEDL
  • SRWAEALREISGRL
  • LVANTSNMPVAARE
  • PEREGSV
  • SIYIPRG
  • ILYKLSSMKFKDP
  • ESIMKRT
  • ELGPGIM
  • SVELGPG
  • TAQSDNK
  • LAQRKHFPS
  • IKDDFLQQNGYT
  • MYELVRVG
  • GAFGCGKTVISQ
  • EYFRDMGY
  • AVETTAQS
  • KITLEVA
  • ARLASFYE
  • KDGEAKIK
  • AVSPPGGDFS
  • TGQRVLD
  • GQRVLDALFP
  • ANTSNMPVAARE
  • GAVSPPGGD
  • EFVPLRT
  • EFEGVKE
  • IQVYEET
  • TIQVYEET
  • EIVQLVG
  • TQSIYIP
  • GGDFSDPVT
  • MPVAAREAS
  • STSRWAEA
  • CGERGNE
  • REGSVSI

Post-translational modifications for ATP6V1A Gene

  • Ubiquitination at Lys467 and Lys580
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP6V1A Gene

Domains & Families for ATP6V1A Gene

Gene Families for ATP6V1A Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

Protein Domains for ATP6V1A Gene

Suggested Antigen Peptide Sequences for ATP6V1A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51804, highly similar to Vacuolar ATP synthase catalytic subunit A, ubiquitous isoform (EC 3.6.3.14) (B7Z1R5_HUMAN)
  • cDNA FLJ53889, highly similar to Vacuolar ATP synthase catalytic subunit A, ubiquitous isoform (EC 3.6.3.14) (B7Z2V6_HUMAN)
  • Vacuolar proton pump subunit alpha (VATA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P38606

UniProtKB/Swiss-Prot:

VATA_HUMAN :
  • Belongs to the ATPase alpha/beta chains family.
Family:
  • Belongs to the ATPase alpha/beta chains family.
genes like me logo Genes that share domains with ATP6V1A: view

Function for ATP6V1A Gene

Molecular function for ATP6V1A Gene

UniProtKB/Swiss-Prot Function:
Catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633). May play a role in neurite development and synaptic connectivity (PubMed:29668857).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + 4 H(+)(in) + H2O = ADP + 5 H(+)(out) + phosphate; Xref=Rhea:RHEA:57720, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=7.1.2.2;.

Enzyme Numbers (IUBMB) for ATP6V1A Gene

Phenotypes From GWAS Catalog for ATP6V1A Gene

Gene Ontology (GO) - Molecular Function for ATP6V1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IBA 21873635
GO:0046933 proton-transporting ATP synthase activity, rotational mechanism IEA --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IBA 21873635
genes like me logo Genes that share ontologies with ATP6V1A: view
genes like me logo Genes that share phenotypes with ATP6V1A: view

Human Phenotype Ontology for ATP6V1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for ATP6V1A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1A

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6V1A Gene

Localization for ATP6V1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6V1A Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP6V1A gene
Compartment Confidence
cytosol 5
plasma membrane 4
extracellular 4
lysosome 4
nucleus 3
cytoskeleton 2
mitochondrion 2
endosome 2
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATP6V1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005765 lysosomal membrane HDA 17897319
GO:0005774 vacuolar membrane IBA --
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with ATP6V1A: view

Pathways & Interactions for ATP6V1A Gene

genes like me logo Genes that share pathways with ATP6V1A: view

SIGNOR curated interactions for ATP6V1A Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ATP6V1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006879 cellular iron ion homeostasis IMP 28296633
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015986 ATP synthesis coupled proton transport IEA --
GO:0016241 regulation of macroautophagy NAS 22982048
genes like me logo Genes that share ontologies with ATP6V1A: view

Drugs & Compounds for ATP6V1A Gene

(20) Drugs for ATP6V1A Gene - From: DrugBank, ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Etidronic acid Approved Pharma Target, inhibitor 37
tiludronate Approved, Investigational, Vet_approved Pharma Target, inhibitor 2
Alendronate Approved Pharma Target, inhibitor Bone resorption inhibitor, Osteoclast function modifiers (important in bone metastasis) 182
Digoxin Approved Pharma Na+/K+ ATPase inhibitor 188
Water Approved Pharma 0

(1) Additional Compounds for ATP6V1A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0

(2) Tocris Compounds for ATP6V1A Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor 88899-55-2
Concanamycin A H+-ATPase (vacuolar) inhibitor 80890-47-7

(12) ApexBio Compounds for ATP6V1A Gene

Compound Action Cas Number
(-)-Blebbistatin Non muscle myosin II ATPase inhibitor 856925-71-8
BHQ 88-58-4
Brefeldin A 20350-15-6
BTB06584 F1F0 ATP synthases 219793-45-0
Ciclopirox ethanolamine 41621-49-2
Concanamycin A V-type (vacuolar) H+-ATPase inhibitor 80890-47-7
Digoxin 20830-75-5
Golgicide A 1139889-93-2
Oligomycin A Mitochondrial ATP synthase Inhibitor 579-13-5
PF-03716556 Acid pump antagonist,potent and selective 928774-43-0
Sodium Orthovanadate PTP inhibitor 13721-39-6
TAK-438 Blocker of potassium-competitive acid 1260141-27-2
genes like me logo Genes that share compounds with ATP6V1A: view

Drug products for research

Transcripts for ATP6V1A Gene

mRNA/cDNA for ATP6V1A Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1A

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1A Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a ·
SP1: - - - - - -
SP2: - -
SP3: -
SP4:
SP5: - - -
SP6: -

ExUns: 18b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for ATP6V1A Gene

GeneLoc Exon Structure for
ATP6V1A

Expression for ATP6V1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP6V1A Gene

Protein differential expression in normal tissues from HIPED for ATP6V1A Gene

This gene is overexpressed in Brain (13.9), Frontal cortex (11.6), and Retina (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP6V1A Gene



Protein tissue co-expression partners for ATP6V1A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP6V1A

SOURCE GeneReport for Unigene cluster for ATP6V1A Gene:

Hs.477155

mRNA Expression by UniProt/SwissProt for ATP6V1A Gene:

P38606-VATA_HUMAN
Tissue specificity: High expression in the skin.

Evidence on tissue expression from TISSUES for ATP6V1A Gene

  • Nervous system(4.9)
  • Kidney(4.6)
  • Blood(4.5)
  • Liver(4.5)
  • Adrenal gland(4.4)
  • Skin(2.9)
  • Heart(2.2)
  • Eye(2.2)
  • Intestine(2.2)
  • Lung(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with ATP6V1A: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6V1A Gene

Orthologs for ATP6V1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V1A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATP6V1A 29 30
  • 99.41 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 96 (a)
OneToMany
-- 30
  • 84 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia ATP6V1A 29 30
  • 93.84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP6V1A 29 30
  • 93.84 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATP6V1A 30
  • 93 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp6v1a 29
  • 89.57 (n)
Mouse
(Mus musculus)
Mammalia Atp6v1a 29 16 30
  • 89.47 (n)
OneToOne
Chicken
(Gallus gallus)
Aves ATP6V1A 29 30
  • 80.72 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP6V1A 30
  • 94 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp6v1a 29
  • 77.26 (n)
LOC394868 29
African clawed frog
(Xenopus laevis)
Amphibia atp6a1-prov 29
Zebrafish
(Danio rerio)
Actinopterygii atp6v1aa 30
  • 93 (a)
OneToMany
atp6v1ab 29 30
  • 78.71 (n)
OneToMany
zgc63516 29
Fruit Fly
(Drosophila melanogaster)
Insecta Vha68-2 30
  • 83 (a)
OneToMany
Vha68-1 29 30
  • 69.11 (n)
OneToMany
Vha68-3 30
  • 60 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea vha-13 29 30
  • 69.26 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F05401g 29
  • 61.01 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA1 29 30 32
  • 60.11 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons VHA-A 29
  • 63.83 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.563 29
Soybean
(Glycine max)
eudicotyledons Gma.1434 29
Rice
(Oryza sativa)
Liliopsida Os02g0175400 29
  • 65.01 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.516 29
Wheat
(Triticum aestivum)
Liliopsida Ta.2650 29
Corn
(Zea mays)
Liliopsida Zm.6945 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.842 30
  • 80 (a)
OneToMany
-- 30
  • 79 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma1 29
  • 63.61 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU01207 29
  • 61.64 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5381 29
Species where no ortholog for ATP6V1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ATP6V1A Gene

ENSEMBL:
Gene Tree for ATP6V1A (if available)
TreeFam:
Gene Tree for ATP6V1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP6V1A: view image
Alliance of Genome Resources:
Additional Orthologs for ATP6V1A

Paralogs for ATP6V1A Gene

Paralogs for ATP6V1A Gene

genes like me logo Genes that share paralogs with ATP6V1A: view

Variants for ATP6V1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP6V1A Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1013208 Uncertain Significance: not provided 113,781,055(+) A/G
NM_001690.4(ATP6V1A):c.88A>G (p.Thr30Ala)
MISSENSE
1013209 Likely Benign: not provided 113,795,142(+) A/C
NM_001690.4(ATP6V1A):c.1164A>C (p.Arg388=)
SYNONYMOUS
1013210 Likely Benign: not provided 113,805,363(+) A/C
NM_001690.4(ATP6V1A):c.1599A>C (p.Pro533=)
SYNONYMOUS
1013487 Likely Benign: not provided 113,778,801(+) C/T
NM_001690.4(ATP6V1A):c.48C>T (p.Ser16=)
SYNONYMOUS
1029520 Likely Pathogenic: Epileptic encephalopathy, infantile or early childhood 3 113,805,413(+) T/C
NM_001690.4(ATP6V1A):c.1649T>C (p.Met550Thr)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATP6V1A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ATP6V1A Gene

Variant ID Type Subtype PubMed ID
esv2588841 CNV deletion 19546169
esv3893764 CNV loss 25118596
esv3893765 CNV loss 25118596
nsv1013506 CNV gain 25217958
nsv1013746 CNV gain 25217958
nsv829678 CNV loss 17160897

Variation tolerance for ATP6V1A Gene

Residual Variation Intolerance Score: 24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP6V1A Gene

Human Gene Mutation Database (HGMD)
ATP6V1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V1A
Leiden Open Variation Database (LOVD)
ATP6V1A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V1A Gene

Disorders for ATP6V1A Gene

MalaCards: The human disease database

(12) MalaCards diseases for ATP6V1A Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

VATA_HUMAN
  • Cutis laxa, autosomal recessive, 2D (ARCL2D) [MIM:617403]: A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2D patients exhibit severe hypotonia as well as cardiovascular and neurologic involvement. {ECO:0000269 PubMed:28065471}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Epileptic encephalopathy, infantile or early childhood, 3 (IECEE3) [MIM:618012]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE3 is an autosomal dominant form characterized by onset of seizures in the first years of life.The severity of the phenotype is highly variable: some patients may be non-verbal and non-ambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability. {ECO:0000269 PubMed:29668857}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ATP6V1A

genes like me logo Genes that share disorders with ATP6V1A: view

No data available for Genatlas for ATP6V1A Gene

Publications for ATP6V1A Gene

  1. De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. (PMID: 29668857) Fassio A … Guerrini R (Brain : a journal of neurology 2018) 3 4 72
  2. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. (PMID: 28065471) Van Damme T … Wevers RA (American journal of human genetics 2017) 3 4 72
  3. Identification of two subunit A isoforms of the vacuolar H(+)-ATPase in human osteoclastoma. (PMID: 8463241) van Hille B … Bilbe G (The Journal of biological chemistry 1993) 2 3 4
  4. The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels. (PMID: 28296633) Miles AL … Nathan JA (eLife 2017) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for ATP6V1A Gene

  • Biorbyt antibodies for ATP6V1A

Sources for ATP6V1A Gene