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Aliases for ATP6V0D1 Gene

Aliases for ATP6V0D1 Gene

  • ATPase, H+ Transporting, Lysosomal 38kDa, V0 Subunit D1 2 3
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Member D 2 3
  • V-ATPase 40 KDa Accessory Protein 3 4
  • Vacuolar Proton Pump Subunit D 1 3 4
  • 32 KDa Accessory Protein 3 4
  • V-ATPase AC39 Subunit 3 4
  • V-ATPase Subunit D 1 3 4
  • VPATPD 3 4
  • ATP6D 3 4
  • P39 3 4
  • ATPase, H+ Transporting, Lysosomal 38kDa, V0 Subunit D Isoform 1 2
  • H(+)-Transporting Two-Sector ATPase, Subunit D 3
  • V-ATPase, Subunit D 3
  • ATP6DV 3
  • VMA6 3
  • VATX 3

External Ids for ATP6V0D1 Gene

Previous HGNC Symbols for ATP6V0D1 Gene

  • ATP6D

Previous GeneCards Identifiers for ATP6V0D1 Gene

  • GC16M058166
  • GC16M067849
  • GC16M067207
  • GC16M067248
  • GC16M066029
  • GC16M067471
  • GC16M053345

Summaries for ATP6V0D1 Gene

Entrez Gene Summary for ATP6V0D1 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 known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP6V0D1 Gene

ATP6V0D1 (ATPase, H+ Transporting, Lysosomal 38kDa, V0 Subunit D1) is a Protein Coding gene. Among its related pathways are Immune System and Signaling by GPCR. GO annotations related to this gene include protein complex binding and hydrogen-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V0D2.

UniProtKB/Swiss-Prot for ATP6V0D1 Gene

  • Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis (By similarity). May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium (By similarity).

Tocris Summary for ATP6V0D1 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 ATP6V0D1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V0D1 Gene

Genomics for ATP6V0D1 Gene

Regulatory Elements for ATP6V0D1 Gene

Transcription factor binding sites by QIAGEN in the ATP6V0D1 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ATP6V0D1 Gene

Chromosome:
16
Start:
67,438,014 bp from pter
End:
67,481,237 bp from pter
Size:
43,224 bases
Orientation:
Minus strand

Genomic View for ATP6V0D1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP6V0D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V0D1 Gene

Proteins for ATP6V0D1 Gene

  • Protein details for ATP6V0D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61421-VA0D1_HUMAN
    Recommended name:
    V-type proton ATPase subunit d 1
    Protein Accession:
    P61421
    Secondary Accessions:
    • P12953
    • Q02547

    Protein attributes for ATP6V0D1 Gene

    Size:
    351 amino acids
    Molecular mass:
    40329 Da
    Quaternary structure:
    • V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c, c and d)
    SequenceCaution:
    • Sequence=CAA50591.1; Type=Frameshift; Positions=22, 25, 64, 66; Evidence={ECO:0000305};

neXtProt entry for ATP6V0D1 Gene

Proteomics data for ATP6V0D1 Gene at MOPED

Post-translational modifications for ATP6V0D1 Gene

  • Ubiquitination at Lys 265, Lys 275, Lys 288, and Lys 343
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for ATP6V0D1 Gene

Domains & Families for ATP6V0D1 Gene

Gene Families for ATP6V0D1 Gene

Protein Domains for ATP6V0D1 Gene

Suggested Antigen Peptide Sequences for ATP6V0D1 Gene

Graphical View of Domain Structure for InterPro Entry

P61421

UniProtKB/Swiss-Prot:

VA0D1_HUMAN :
  • Belongs to the V-ATPase V0D/AC39 subunit family.
Family:
  • Belongs to the V-ATPase V0D/AC39 subunit family.
genes like me logo Genes that share domains with ATP6V0D1: view

Function for ATP6V0D1 Gene

Molecular function for ATP6V0D1 Gene

UniProtKB/Swiss-Prot Function:
Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis (By similarity). May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium (By similarity).

Gene Ontology (GO) - Molecular Function for ATP6V0D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18752060
GO:0008553 hydrogen-exporting ATPase activity, phosphorylative mechanism IEA --
GO:0015078 hydrogen ion transmembrane transporter activity --
GO:0032403 protein complex binding IEA --
genes like me logo Genes that share ontologies with ATP6V0D1: view
genes like me logo Genes that share phenotypes with ATP6V0D1: view

Animal Models for ATP6V0D1 Gene

MGI Knock Outs for ATP6V0D1:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP6V0D1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ATP6V0D1 Gene

Localization for ATP6V0D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6V0D1 Gene

Membrane; Peripheral membrane protein; Cytoplasmic side. Note=Localizes to centrosome and the base of the cilium.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP6V0D1 Gene COMPARTMENTS Subcellular localization image for ATP6V0D1 gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
endosome 4
plasma membrane 2

Gene Ontology (GO) - Cellular Components for ATP6V0D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 17897319
GO:0005769 early endosome IEA --
GO:0005813 colocalizes_with centrosome IDA 21844891
GO:0008021 synaptic vesicle IEA --
GO:0010008 endosome membrane TAS --
genes like me logo Genes that share ontologies with ATP6V0D1: view

Pathways & Interactions for ATP6V0D1 Gene

genes like me logo Genes that share pathways with ATP6V0D1: view

Gene Ontology (GO) - Biological Process for ATP6V0D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis TAS --
GO:0007420 brain development IEA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0015992 proton transport NAS 11118322
genes like me logo Genes that share ontologies with ATP6V0D1: view

No data available for SIGNOR curated interactions for ATP6V0D1 Gene

Drugs & Compounds for ATP6V0D1 Gene

(13) Drugs for ATP6V0D1 Gene - From: HMDB, ApexBio, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Digoxin Approved Pharma Na+/K+ ATPase inhibitor 118
Adenosine triphosphate Approved Nutra 0
Bafilomycin A1 Experimental Pharma H+-ATPase (vacuolar) inhibitor 0
(-)-Blebbistatin Pharma Non muscle myosin II ATPase inhibitor 0
BHQ Pharma Inhibitor of SERCA ATPase 0

(5) Additional Compounds for ATP6V0D1 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
Concanamycin A
80890-47-7
Enterostatin
117830-79-2
genes like me logo Genes that share compounds with ATP6V0D1: view

Transcripts for ATP6V0D1 Gene

Unigene Clusters for ATP6V0D1 Gene

ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP6V0D1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0D1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - - - -
SP5: -
SP6: - - - -
SP7:
SP8: - -

Relevant External Links for ATP6V0D1 Gene

GeneLoc Exon Structure for
ATP6V0D1
ECgene alternative splicing isoforms for
ATP6V0D1

Expression for ATP6V0D1 Gene

mRNA expression in normal human tissues for ATP6V0D1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP6V0D1 Gene

This gene is overexpressed in Whole Blood (x6.7).

Protein differential expression in normal tissues from HIPED for ATP6V0D1 Gene

This gene is overexpressed in Bone (21.1), Brain (12.8), and Frontal cortex (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP6V0D1 Gene



SOURCE GeneReport for Unigene cluster for ATP6V0D1 Gene Hs.106876

mRNA Expression by UniProt/SwissProt for ATP6V0D1 Gene

P61421-VA0D1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ATP6V0D1: view

Protein tissue co-expression partners for ATP6V0D1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for ATP6V0D1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V0D1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP6V0D1 35
  • 92.59 (n)
  • 100 (a)
ATP6V0D1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V0D1 35
  • 91.74 (n)
  • 99.43 (a)
ATP6V0D1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v0d1 35
  • 90.12 (n)
  • 99.72 (a)
Atp6v0d1 16
Atp6v0d1 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP6V0D1 35
  • 98.01 (n)
  • 97.14 (a)
ATP6V0D1 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v0d1 35
  • 90.5 (n)
  • 99.72 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 97 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATP6V0D1 35
  • 84.05 (n)
  • 96.58 (a)
-- 36
  • 91 (a)
OneToMany
-- 36
  • 98 (a)
OneToMany
-- 36
  • 95 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia ATP6V0D1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v0d1 35
  • 76.64 (n)
  • 94.59 (a)
MGC76083 35
African clawed frog
(Xenopus laevis)
Amphibia atp6d-prov 35
zebrafish
(Danio rerio)
Actinopterygii atp6v0d1 35
  • 78.07 (n)
  • 94.83 (a)
wufb73h07 35
atp6v0d1 36
  • 94 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG4624 37
  • 44 (a)
VhaAC39 37
  • 81 (a)
VhaAC39-1 35
  • 76.68 (n)
  • 81.34 (a)
VhaAC39-1 36
  • 80 (a)
ManyToMany
VhaAC39-2 36
  • 44 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000721 35
  • 76.44 (n)
  • 79.6 (a)
worm
(Caenorhabditis elegans)
Secernentea C30F8.2 37
  • 75 (a)
vha-16 35
  • 67.83 (n)
  • 75.07 (a)
vha-16 36
  • 74 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER146C 35
  • 57.5 (n)
  • 48.52 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B04752g 35
  • 52.07 (n)
  • 48.22 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA6 35
  • 52.96 (n)
  • 47.34 (a)
VMA6 36
  • 46 (a)
OneToMany
VMA6 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G28710 35
  • 55.72 (n)
  • 51.3 (a)
rice
(Oryza sativa)
Liliopsida Os01g0587000 35
  • 57.82 (n)
  • 52.48 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4049 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03395 35
  • 62.02 (n)
  • 53.49 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma6 35
  • 52.94 (n)
  • 55.88 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9989 36
  • 71 (a)
OneToMany
Species with no ortholog for ATP6V0D1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP6V0D1 Gene

ENSEMBL:
Gene Tree for ATP6V0D1 (if available)
TreeFam:
Gene Tree for ATP6V0D1 (if available)

Paralogs for ATP6V0D1 Gene

Paralogs for ATP6V0D1 Gene

genes like me logo Genes that share paralogs with ATP6V0D1: view

Variants for ATP6V0D1 Gene

Sequence variations from dbSNP and Humsavar for ATP6V0D1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs736231 -- 67,447,615(+) TGGGG(G/T)GGGGG intron-variant
rs749242 -- 67,457,668(+) AGGAA(C/T)GTGTG intron-variant
rs880996 -- 67,464,712(+) GGAAA(A/G)GCCCC intron-variant
rs889414 -- 67,456,923(+) TCCCC(A/G)AGTGA intron-variant
rs1053099 -- 67,438,558(-) CGCGC(A/C)AAAAT synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for ATP6V0D1 Gene

Variant ID Type Subtype PubMed ID
nsv524363 CNV Loss 19592680
nsv522852 CNV Gain 19592680
nsv471092 CNV Gain 18288195
nsv833266 CNV Loss 17160897
esv2622215 CNV Deletion 19546169
esv2247849 CNV Deletion 18987734
esv2714648 CNV Deletion 23290073
esv2678491 CNV Deletion 23128226

Variation tolerance for ATP6V0D1 Gene

Residual Variation Intolerance Score: 24.12% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.32; 7.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP6V0D1 Gene

HapMap Linkage Disequilibrium report
ATP6V0D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V0D1 Gene

Disorders for ATP6V0D1 Gene

Relevant External Links for ATP6V0D1

Genetic Association Database (GAD)
ATP6V0D1
Human Genome Epidemiology (HuGE) Navigator
ATP6V0D1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V0D1
genes like me logo Genes that share disorders with ATP6V0D1: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP6V0D1 Gene

Publications for ATP6V0D1 Gene

  1. Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase. (PMID: 8250920) van Hille B. … Bilbe G. (Biochem. Biophys. Res. Commun. 1993) 2 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67
  4. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 67
  5. PRP19 transforms into a sensor of RPA-ssDNA after DNA damage and drives ATR activation via a ubiquitin-mediated circuitry. (PMID: 24332808) Marechal A. … Zou L. (Mol. Cell 2014) 67

Products for ATP6V0D1 Gene

Sources for ATP6V0D1 Gene

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