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Aliases for ATP6V1D Gene

Aliases for ATP6V1D Gene

  • ATPase, H+ Transporting, Lysosomal 34kDa, V1 Subunit D 2 3
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 2 3
  • V-ATPase 28 KDa Accessory Protein 3 4
  • Vacuolar Proton Pump Subunit D 3 4
  • V-ATPase Subunit D 3 4
  • ATP6M 3 4
  • VATD 3 4
  • H(+)-Transporting Two-Sector ATPase, Subunit M 3
  • ATPase, H+ Transporting Lysosomal, Member M 3
  • Vacuolar Proton Pump Delta Polypeptide 3
  • Vacuolar Proton-ATPase Subunit D 3
  • Vacuolar ATP Synthase Subunit D 3
  • V-Type Proton ATPase Subunit D 3
  • Vacuolar Proton Pump D Subunit 3
  • Vacuolar H-ATPase Subunit D 3
  • V-ATPase D Subunit 3
  • VMA8 3

External Ids for ATP6V1D Gene

Previous HGNC Symbols for ATP6V1D Gene

  • ATP6M

Previous GeneCards Identifiers for ATP6V1D Gene

  • GC14M065309
  • GC14M061598
  • GC14M065792
  • GC14M065794
  • GC14M066874
  • GC14M067804
  • GC14M047974
  • GC14M067761

Summaries for ATP6V1D Gene

Entrez Gene Summary for ATP6V1D 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 gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP6V1D Gene

ATP6V1D (ATPase, H+ Transporting, Lysosomal 34kDa, V1 Subunit D) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Insulin receptor signalling cascade. GO annotations related to this gene include ATPase activity, coupled to transmembrane movement of substances.

UniProtKB/Swiss-Prot for ATP6V1D Gene

  • Subunit of the peripheral V1 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 (By similarity). May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium.

Tocris Summary for ATP6V1D 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, endosomes, the Golgi apparatus, chromaffin granules and coated vesicles, as well as in the plasma membrane. H+-ATPase is a multisubunit complex composed of two domains. The V1 domain is responsible for ATP hydrolysis and the V0 domain is responsible for protein translocation. There are two main mechanisms of regulating H+-ATPase activity; recycling of H+-ATPase-containing vesicles to and from the plasma membrane and glucose-sensitive assembly/disassembly of the holoenzyme complex. These transporters play an important role in processes such as receptor-mediated endocytosis, protein degradation and coupled transport. They have a function in bone reabsorption and mutations in the A3 gene cause recessive osteopetrosis. Furthermore, H+-ATPases have been implicated in tumor metastasis and regulation of sperm motility and maturation.

Gene Wiki entry for ATP6V1D Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V1D Gene

Genomics for ATP6V1D Gene

Regulatory Elements for ATP6V1D Gene

Epigenetics Products

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

Genomic Location for ATP6V1D Gene

Start:
67,294,371 bp from pter
End:
67,360,265 bp from pter
Size:
65,895 bases
Orientation:
Minus strand

Genomic View for ATP6V1D Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP6V1D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V1D Gene

Proteins for ATP6V1D Gene

  • Protein details for ATP6V1D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5K8-VATD_HUMAN
    Recommended name:
    V-type proton ATPase subunit D
    Protein Accession:
    Q9Y5K8
    Secondary Accessions:
    • B2RE33
    • Q9Y688

    Protein attributes for ATP6V1D Gene

    Size:
    247 amino acids
    Molecular mass:
    28263 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). Interacts with SNX10; may play a role in ciliogenesis.

neXtProt entry for ATP6V1D Gene

Proteomics data for ATP6V1D Gene at MOPED

Post-translational modifications for ATP6V1D Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for ATP6V1D Gene

Domains for ATP6V1D Gene

Gene Families for ATP6V1D Gene

HGNC:
  • VATP :ATPases / V-type
IUPHAR :

Protein Domains for ATP6V1D Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y5K8

UniProtKB/Swiss-Prot:

VATD_HUMAN :
  • Q9Y5K8
Family:
  • Belongs to the V-ATPase D subunit family.
genes like me logo Genes that share domains with ATP6V1D: view

Function for ATP6V1D Gene

Molecular function for ATP6V1D Gene

UniProtKB/Swiss-Prot Function:
Subunit of the peripheral V1 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 (By similarity). May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium.

Gene Ontology (GO) - Molecular Function for ATP6V1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18752060
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA --
genes like me logo Genes that share ontologies with ATP6V1D: view
genes like me logo Genes that share phenotypes with ATP6V1D: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP6V1D

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ATP6V1D Gene

Localization for ATP6V1D Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6V1D 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 ATP6V1D Gene COMPARTMENTS Subcellular localization image for ATP6V1D gene
Compartment Confidence
vacuole 5
cytosol 4
nucleus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for ATP6V1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 17897319
GO:0005813 colocalizes_with centrosome IDA 21844891
GO:0005829 cytosol TAS --
GO:0005929 colocalizes_with cilium IDA 21844891
GO:0016020 membrane IDA 18752060
genes like me logo Genes that share ontologies with ATP6V1D: view

Pathways for ATP6V1D Gene

genes like me logo Genes that share pathways with ATP6V1D: view

Gene Ontology (GO) - Biological Process for ATP6V1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis TAS --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015992 proton transport IEA --
GO:0033572 transferrin transport TAS --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with ATP6V1D: view

Compounds for ATP6V1D Gene

(3) Tocris Compounds for ATP6V1D Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor [88899-55-2]
Concanamycin A H+-ATPase (vacuolar) inhibitor [80890-47-7]
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities [97-77-8]

(4) HMDB Compounds for ATP6V1D Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5
genes like me logo Genes that share compounds with ATP6V1D: view

Transcripts for ATP6V1D Gene

mRNA/cDNA for ATP6V1D Gene

Unigene Clusters for ATP6V1D Gene

ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP6V1D

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1D Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b
SP1: - - - - -
SP2: - -
SP3: - - - -
SP4: - - -
SP5: -
SP6: -
SP7: - -
SP8: -
SP9:

Relevant External Links for ATP6V1D Gene

GeneLoc Exon Structure for
ATP6V1D
ECgene alternative splicing isoforms for
ATP6V1D

Expression for ATP6V1D Gene

mRNA expression in normal human tissues for ATP6V1D Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for ATP6V1D Gene

This gene is overexpressed in Brain (23.7) and Frontal cortex (7.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP6V1D Gene

SOURCE GeneReport for Unigene cluster for ATP6V1D Gene Hs.272630

genes like me logo Genes that share expressions with ATP6V1D: view

Expression partners for ATP6V1D Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ATP6V1D Gene

Orthologs for ATP6V1D Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V1D Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP6V1D 35
  • 94.33 (n)
  • 99.19 (a)
ATP6V1D 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V1D 35
  • 94.47 (n)
  • 99.6 (a)
ATP6V1D 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v1d 35
  • 91.09 (n)
  • 98.38 (a)
Atp6v1d 16
Atp6v1d 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP6V1D 35
  • 100 (n)
  • 100 (a)
ATP6V1D 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v1d 35
  • 90.15 (n)
  • 98.79 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 88 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V1D 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP6V1D 35
  • 80.7 (n)
  • 95.55 (a)
ATP6V1D 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6V1D 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1d 35
  • 76.38 (n)
  • 89.07 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.22727 35
zebrafish
(Danio rerio)
Actinopterygii atp6v1d 35
  • 74.76 (n)
  • 87.85 (a)
zgc55524 35
atp6v1d 36
  • 87 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.731 35
fruit fly
(Drosophila melanogaster)
Insecta CG13167 37
  • 37 (a)
EG:BACR25B3.4 37
  • 69 (a)
Vha36 37
  • 72 (a)
Vha36-1 35
  • 64.49 (n)
  • 73.06 (a)
Vha36-1 36
  • 72 (a)
OneToMany
Vha36-2 36
  • 24 (a)
OneToMany
Vha36-3 36
  • 68 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010298 35
  • 67.55 (n)
  • 75.77 (a)
worm
(Caenorhabditis elegans)
Secernentea F55H2.2 37
  • 67 (a)
vha-14 35
  • 63.33 (n)
  • 70.83 (a)
vha-14 36
  • 67 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR130C 35
  • 54.85 (n)
  • 56.31 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A01991g 35
  • 59.31 (n)
  • 54.11 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA8 35
  • 58.57 (n)
  • 54.32 (a)
VMA8 36
  • 51 (a)
OneToOne
VMA8 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G58730 35
  • 59.68 (n)
  • 54.76 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3362 35
barley
(Hordeum vulgare)
Liliopsida Hv.8141 35
rice
(Oryza sativa)
Liliopsida Os04g0643100 35
  • 53.25 (n)
  • 54.88 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7657 35
bread mold
(Neurospora crassa)
Ascomycetes NCU08035 35
  • 55.28 (n)
  • 54.77 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma8 35
  • 56.21 (n)
  • 48.54 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7229 36
  • 69 (a)
OneToOne
Species with no ortholog for ATP6V1D:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 ATP6V1D Gene

ENSEMBL:
Gene Tree for ATP6V1D (if available)
TreeFam:
Gene Tree for ATP6V1D (if available)

Paralogs for ATP6V1D Gene

genes like me logo Genes that share paralogs with ATP6V1D: view

No data available for Paralogs for ATP6V1D Gene

Variants for ATP6V1D Gene

Sequence variations from dbSNP and Humsavar for ATP6V1D Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs1813 -- 67,337,658(+) GGATG(C/T)GAGAA downstream-variant-500B
rs1045060 -- 67,338,536(-) CTATT(G/T)ATTTT utr-variant-3-prime
rs1536271 -- 67,354,454(+) CTTTG(A/C)GGAAT intron-variant
rs1536272 -- 67,354,584(+) AGTTC(A/G)CCTAT intron-variant
rs1536273 -- 67,356,026(+) AAATT(A/C)AACAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP6V1D Gene

Variant ID Type Subtype PubMed ID
esv2751285 CNV Gain 17911159
nsv832821 CNV Gain 17160897
nsv456331 CNV Gain 19166990
nsv470651 CNV Gain 18288195
nsv902065 CNV Gain 21882294

Relevant External Links for ATP6V1D Gene

HapMap Linkage Disequilibrium report
ATP6V1D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V1D Gene

Disorders for ATP6V1D Gene

Relevant External Links for ATP6V1D

Genetic Association Database (GAD)
ATP6V1D
Human Genome Epidemiology (HuGE) Navigator
ATP6V1D

No disorders were found for ATP6V1D Gene.

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for ATP6V1D Gene

Publications for ATP6V1D Gene

  1. cDNA cloning, chromosomal localization and evolutionary analysis of mouse vacuolar ATPase subunit D, Atp6m. (PMID: 11435709) Kennell J.A. … Gumucio D.L. (Cytogenet. Cell Genet. 2001) 3 23
  2. Yeast two-hybrid screening identifies binding partners of human Tom34 that have ATPase activity and form a complex with Tom34 in the cytosol. (PMID: 11913976) Yang C.-S. … Weiner H. (Arch. Biochem. Biophys. 2002) 3 23
  3. Structure, function and regulation of the vacuolar (H+)-ATPase. (PMID: 9442887) Stevens T.H. … Forgac M. (Annu. Rev. Cell Dev. Biol. 1997) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for ATP6V1D Gene

Sources for ATP6V1D Gene

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