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Aliases for ATP6V1D Gene

Aliases for ATP6V1D Gene

  • ATPase H+ Transporting V1 Subunit D 2 3
  • ATPase, H+ Transporting, Lysosomal 34kDa, V1 Subunit D 2 3 5
  • 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
  • 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 V1 Subunit D) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Metabolism. 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 and endosomes.

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

Promoters for ATP6V1D Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP6V1D on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP6V1D Gene

Chromosome:
14
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

Genes around ATP6V1D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V1D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families for ATP6V1D Gene

Gene Families for ATP6V1D Gene

HGNC:
IUPHAR :

Protein Domains for ATP6V1D Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y5K8

UniProtKB/Swiss-Prot:

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

Animal Models for ATP6V1D Gene

MGI Knock Outs for ATP6V1D:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets 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
cytosol 5
extracellular 5
lysosome 5
vacuole 5
nucleus 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for ATP6V1D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033176 proton-transporting V-type ATPase complex IDA 18752060
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ATP6V1D: view

Pathways & Interactions 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:0016241 regulation of macroautophagy NAS 22982048
GO:0033572 transferrin transport TAS --
GO:0034220 ion transmembrane transport TAS --
GO:0090382 phagosome maturation TAS --
GO:0090383 phagosome acidification TAS --
genes like me logo Genes that share ontologies with ATP6V1D: view

No data available for SIGNOR curated interactions for ATP6V1D Gene

Drugs & Compounds for ATP6V1D Gene

(3) Drugs for ATP6V1D Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 34
Bafilomycin A1 Experimental Pharma H+-ATPase (vacuolar) inhibitor 0

(5) Additional Compounds for ATP6V1D 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
Full agonist, Agonist 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 ATP6V1D: view

Transcripts for ATP6V1D Gene

Unigene Clusters for ATP6V1D Gene

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

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 from HIPED for ATP6V1D Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ATP6V1D: view

Protein tissue co-expression partners for ATP6V1D Gene

- Elite partner

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia ATP6V1D 36
  • 100 (a)
OneToOne
ATP6V1D 35
  • 100 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia ATP6V1D 35
  • 94.33 (n)
  • 99.19 (a)
ATP6V1D 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V1D 36
  • 99 (a)
OneToOne
ATP6V1D 35
  • 94.47 (n)
  • 99.6 (a)
mouse
(Mus musculus)
Mammalia Atp6v1d 36
  • 98 (a)
OneToOne
Atp6v1d 16
Atp6v1d 35
  • 91.09 (n)
  • 98.38 (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
rat
(Rattus norvegicus)
Mammalia Atp6v1d 35
  • 90.15 (n)
  • 98.79 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.22727 35
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1d 35
  • 76.38 (n)
  • 89.07 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.731 35
zebrafish
(Danio rerio)
Actinopterygii atp6v1d 36
  • 87 (a)
OneToOne
atp6v1d 35
  • 74.76 (n)
  • 87.85 (a)
zgc55524 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010298 35
  • 67.55 (n)
  • 75.77 (a)
fruit fly
(Drosophila melanogaster)
Insecta 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
CG13167 37
  • 37 (a)
EG:BACR25B3.4 37
  • 69 (a)
Vha36 37
  • 72 (a)
worm
(Caenorhabditis elegans)
Secernentea vha-14 35
  • 63.33 (n)
  • 70.83 (a)
vha-14 36
  • 67 (a)
OneToOne
F55H2.2 37
  • 67 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR130C 35
  • 54.85 (n)
  • 56.31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA8 36
  • 51 (a)
OneToOne
VMA8 38
VMA8 35
  • 58.57 (n)
  • 54.32 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A01991g 35
  • 59.31 (n)
  • 54.11 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3362 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G58730 35
  • 59.68 (n)
  • 54.76 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.8141 35
rice
(Oryza sativa)
Liliopsida Os04g0643100 35
  • 53.25 (n)
  • 54.88 (a)
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 intestinalis)
Ascidiacea Cin.7657 35
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
rs1536274 -- 67,357,919(+) tggct(C/T)tcaaa intron-variant
rs2031563 -- 67,347,803(+) ccTAA(A/G)TTCTG intron-variant
rs3818467 -- 67,345,757(+) GTCTT(C/T)TGCTA intron-variant
rs4899203 -- 67,342,254(+) AAAAT(A/G)GAGTA intron-variant
rs8007696 -- 67,355,742(+) TTATG(C/T)CTATA 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

Variation tolerance for ATP6V1D Gene

Residual Variation Intolerance Score: 39.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.32; 7.05% of all genes are more intolerant (likely to be disease-causing)

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V1D

No disorders were found for ATP6V1D Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP6V1D Gene

Publications for ATP6V1D Gene

  1. A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo. (PMID: 21844891) Chen Y. … Pei D. (Cell Res. 2012) 3 4 67
  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. 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
  4. Structure, function and regulation of the vacuolar (H+)-ATPase. (PMID: 9442887) Stevens T.H. … Forgac M. (Annu. Rev. Cell Dev. Biol. 1997) 2 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for ATP6V1D Gene

Sources for ATP6V1D Gene

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