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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
  • Vacuolar Proton Pump Subunit Alpha 3 4
  • Vacuolar ATPase Isoform VA68 3 4
  • V-ATPase Subunit A 3 4
  • EC 3.6.3.14 4 56
  • ATP6V1A1 3 4
  • ATP6A1 3 4
  • VPP2 3 4
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Alpha Polypeptide, 70kD, Isoform 1 2
  • Vacuolar ATP Synthase Catalytic Subunit A, Ubiquitous Isoform 3
  • H+-Transporting ATPase Chain A, Vacuolar (VA68 Type) 3
  • ATPase, H+ Transporting, Lysosomal, Subunit A1 3
  • H(+)-Transporting Two-Sector ATPase, Subunit A 3
  • V-Type Proton ATPase Catalytic Subunit A 3
  • Vacuolar Proton Pump Alpha Subunit 1 3
  • V-ATPase 69 KDa Subunit 1 3
  • V-ATPase 69 KDa Subunit 4
  • V-ATPase A Subunit 1 3
  • EC 3.6.3 56
  • ARCL2D 3
  • HO68 3
  • VA68 3
  • Vma1 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 Cutis Laxa, Autosomal Recessive, Type Iid and Autosomal Recessive Cutis Laxa Type 2, Classic Type. Among its related pathways are Innate Immune System and Rheumatoid arthritis. Gene Ontology (GO) annotations related to this gene include proton-transporting ATPase activity, rotational mechanism.

UniProtKB/Swiss-Prot 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).

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

Additional gene information for ATP6V1A Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V1A Gene

Genomics for ATP6V1A Gene

GeneHancer (GH) Regulatory Elements for ATP6V1A Gene

Promoters and enhancers for ATP6V1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I113742 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 559.4 -0.7 -723 8.5 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 ATP6V1A ENSG00000242659 NAA50 SPICE1 QTRT2 NEPRO LOC101180897 CFAP44 BOC USF3
GH03I113694 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 8.3 -49.8 -49846 4.8 HDGF PKNOX1 ARID4B NEUROD1 SIN3A DMAP1 YBX1 ZBTB7B YY1 E2F8 USF3 NAA50 GTPBP8 NEPRO QTRT2 SIDT1 ATP6V1A GC03P113719
GH03I113782 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 12.8 +36.8 36822 2.5 PKNOX1 JUN CEBPG BATF POLR2A NFE2 ATF7 FOS IKZF2 RUNX3 ATP6V1A GRAMD1C USF3 NAA50 ENSG00000242659
GH03I113754 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 13.3 +7.6 7615 1.2 ATF7 ATP6V1A NAA50 USF3 QTRT2 ENSG00000242659 GRAMD1C
GH03I113736 Enhancer 1.1 Ensembl ENCODE dbSUPER 8.5 -9.8 -9802 2.3 CTCF ZNF384 KMT2B RAD21 ZNF143 SMC3 BCLAF1 RUNX3 SMARCA5 ZNF654 USF3 QTRT2 CCDC191 ATP6V1A ENSG00000239280 NAA50 GC03P113719
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATP6V1A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP6V1A gene promoter:

Genomic Locations for ATP6V1A Gene

Genomic Locations for ATP6V1A Gene
chr3:113,747,019-113,812,058
(GRCh38/hg38)
Size:
65,040 bases
Orientation:
Plus strand
chr3:113,465,866-113,530,905
(GRCh37/hg19)

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 posLast=580580
  • 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):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

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 CatalyticActivity:
ATP + H(2)O + H(+)(In) = ADP + phosphate + H(+)(Out).
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).

Enzyme Numbers (IUBMB) for ATP6V1A Gene

Gene Ontology (GO) - Molecular Function for ATP6V1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IBA --
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 Model Products

  • Taconic Biosciences Mouse Models for ATP6V1A

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6V1A Gene

Localization for ATP6V1A Gene

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
plasma membrane 5
extracellular 5
cytosol 5
lysosome 5
nucleus 3
mitochondrion 2
cytoskeleton 1
peroxisome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ATP6V1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005765 lysosomal membrane IDA,HDA 17897319
GO:0005829 cytosol IEA,TAS --
GO:0005886 plasma membrane ISS,IEA --
GO:0005887 integral component of plasma membrane TAS 8463241
genes like me logo Genes that share ontologies with ATP6V1A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ATP6V1A Gene

Pathways & Interactions for ATP6V1A Gene

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

Gene Ontology (GO) - Biological Process for ATP6V1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 8463241
GO:0006811 ion transport IEA --
GO:0006879 cellular iron ion homeostasis IMP 28296633
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
genes like me logo Genes that share ontologies with ATP6V1A: view

No data available for SIGNOR curated interactions for ATP6V1A Gene

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 84
tiludronate Approved, Investigational, Vet_approved Pharma Target, inhibitor 2
Alendronate Approved Pharma Inhibition, Inhibitor, Target, inhibitor Bone resorption inhibitor, Osteoclast function modifiers (important in bone metastasis) 165
Digoxin Approved Pharma 146
Water Approved Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2

(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

Transcripts for ATP6V1A Gene

Unigene Clusters for ATP6V1A Gene

ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
ATP6V1A

Expression for ATP6V1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for ATP6V1A Gene



Protein tissue co-expression partners for ATP6V1A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATP6V1A Gene:

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)
  • Adrenal gland(4.4)
  • Blood(4.4)
  • Kidney(4.4)
  • Liver(4.4)
  • Eye(2.2)
  • Skin(2)
genes like me logo Genes that share expression patterns with ATP6V1A: view

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 33 34
  • 99.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 96 (a)
OneToMany
-- 34
  • 84 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ATP6V1A 33 34
  • 93.84 (n)
dog
(Canis familiaris)
Mammalia ATP6V1A 33 34
  • 93.84 (n)
oppossum
(Monodelphis domestica)
Mammalia ATP6V1A 34
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v1a 33
  • 89.57 (n)
mouse
(Mus musculus)
Mammalia Atp6v1a 33 16 34
  • 89.47 (n)
chicken
(Gallus gallus)
Aves ATP6V1A 33 34
  • 80.72 (n)
lizard
(Anolis carolinensis)
Reptilia ATP6V1A 34
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1a 33
  • 77.26 (n)
LOC394868 33
African clawed frog
(Xenopus laevis)
Amphibia atp6a1-prov 33
zebrafish
(Danio rerio)
Actinopterygii atp6v1aa 34
  • 93 (a)
OneToMany
atp6v1ab 33 34
  • 78.71 (n)
zgc63516 33
fruit fly
(Drosophila melanogaster)
Insecta Vha68-2 34
  • 83 (a)
OneToMany
Vha68-1 33 34
  • 69.11 (n)
Vha68-3 34
  • 60 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vha-13 33 34
  • 69.26 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F05401g 33
  • 61.01 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA1 33 34 36
  • 60.11 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons VHA-A 33
  • 63.83 (n)
soybean
(Glycine max)
eudicotyledons Gma.1434 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.563 33
rice
(Oryza sativa)
Liliopsida Os02g0175400 33
  • 65.01 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.516 33
wheat
(Triticum aestivum)
Liliopsida Ta.2650 33
corn
(Zea mays)
Liliopsida Zm.6945 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.842 34
  • 80 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma1 33
  • 63.61 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01207 33
  • 61.64 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5381 33
Species where no ortholog for ATP6V1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for ATP6V1A Gene

No data available for Paralogs for ATP6V1A Gene

Variants for ATP6V1A Gene

Sequence variations from dbSNP and Humsavar for ATP6V1A Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1060505036 pathogenic, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID 113,794,895(+) C/T coding_sequence_variant, missense_variant
rs1060505037 pathogenic, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID 113,784,227(+) G/A coding_sequence_variant, missense_variant
rs869312870 likely-pathogenic, Cerebral visual impairment and intellectual disability 113,789,792(+) A/G coding_sequence_variant, missense_variant
VAR_078606 Cutis laxa, autosomal recessive, 2D (ARCL2D) [MIM:617403] p.Gly72Asp
VAR_078607 Cutis laxa, autosomal recessive, 2D (ARCL2D) [MIM:617403] p.Arg338Cys

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

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

Disorders for ATP6V1A Gene

MalaCards: The human disease database

(8) MalaCards diseases for ATP6V1A Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cutis laxa, autosomal recessive, type iid
  • arcl2d
autosomal recessive cutis laxa type 2, classic type
  • arcl2, debré type
histoplasmosis
  • reticuloendotheliosis, x-linked
baylisascariasis
  • infection by baylisascaris
cutis laxa
  • loose skin
- 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 mutations 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. 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 58
  2. 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 58
  3. 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 58
  4. 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 58
  5. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu RM … Chen JL (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 58

Products for ATP6V1A Gene

Sources for ATP6V1A Gene

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