Human Gene ATP6V0D1 (ENST00000290949.8_7) from GENCODE V47lift37
  Description: ATPase H+ transporting V0 subunit d1 (from RefSeq NM_004691.5)
Gencode Transcript: ENST00000290949.8_7
Gencode Gene: ENSG00000159720.13_14
Transcript (Including UTRs)
   Position: hg19 chr16:67,471,922-67,515,060 Size: 43,139 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr16:67,472,431-67,514,989 Size: 42,559 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:67,471,922-67,515,060)mRNA (may differ from genome)Protein (351 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: VA0D1_HUMAN
DESCRIPTION: RecName: Full=V-type proton ATPase subunit d 1; Short=V-ATPase subunit d 1; AltName: Full=32 kDa accessory protein; AltName: Full=V-ATPase 40 kDa accessory protein; AltName: Full=V-ATPase AC39 subunit; Short=p39; AltName: Full=Vacuolar proton pump subunit d 1;
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).
SUBUNIT: 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).
TISSUE SPECIFICITY: Ubiquitous.
SIMILARITY: Belongs to the V-ATPase V0D/AC39 subunit family.
SEQUENCE CAUTION: Sequence=CAA50591.1; Type=Frameshift; Positions=22, 25, 64, 66;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 102.30 RPKM in Whole Blood
Total median expression: 2003.67 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -30.9071-0.435 Picture PostScript Text
3' UTR -178.10509-0.350 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016727 - ATPase_V0-cplx_dsu
IPR002843 - ATPase_V0/A0-cplx_csu/dsu

Pfam Domains:
PF01992 - ATP synthase (C/AC39) subunit

SCOP Domains:
103486 - V-type ATP synthase subunit C

ModBase Predicted Comparative 3D Structure on P61421
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
Gene SorterGene Sorter Gene Sorter Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008553 hydrogen-exporting ATPase activity, phosphorylative mechanism
GO:0015078 hydrogen ion transmembrane transporter activity
GO:0044877 macromolecular complex binding
GO:0046961 proton-transporting ATPase activity, rotational mechanism

Biological Process:
GO:0006811 ion transport
GO:0006879 cellular iron ion homeostasis
GO:0007034 vacuolar transport
GO:0007035 vacuolar acidification
GO:0007420 brain development
GO:0008286 insulin receptor signaling pathway
GO:0015991 ATP hydrolysis coupled proton transport
GO:0016241 regulation of macroautophagy
GO:0030030 cell projection organization
GO:0033572 transferrin transport
GO:0034220 ion transmembrane transport
GO:0036295 cellular response to increased oxygen levels
GO:0036498 IRE1-mediated unfolded protein response
GO:0060271 cilium assembly
GO:1902600 hydrogen ion transmembrane transport

Cellular Component:
GO:0005765 lysosomal membrane
GO:0005769 early endosome
GO:0008021 synaptic vesicle
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016324 apical plasma membrane
GO:0016471 vacuolar proton-transporting V-type ATPase complex
GO:0030670 phagocytic vesicle membrane
GO:0032991 macromolecular complex
GO:0033179 proton-transporting V-type ATPase, V0 domain
GO:0043005 neuron projection
GO:0043679 axon terminus
GO:0070062 extracellular exosome
GO:0005813 centrosome


-  Descriptions from all associated GenBank mRNAs
  X71490 - H.sapiens mRNA for vacuolar proton ATPase, subunit D.
BC008861 - Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1, mRNA (cDNA clone MGC:15351 IMAGE:4126712), complete cds.
AK300570 - Homo sapiens cDNA FLJ54755 complete cds, highly similar to Vacuolar ATP synthase subunit d (EC 3.6.3.14).
DQ893270 - Synthetic construct clone IMAGE:100005900; FLH195818.01X; RZPDo839G08152D ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1) gene, encodes complete protein.
AK313035 - Homo sapiens cDNA, FLJ93507, highly similar to Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1 (ATP6V0D1), mRNA.
KJ892689 - Synthetic construct Homo sapiens clone ccsbBroadEn_02083 ATP6V0D1 gene, encodes complete protein.
DQ896601 - Synthetic construct Homo sapiens clone IMAGE:100011061; FLH195814.01L; RZPDo839G08151D ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1) gene, encodes complete protein.
CU679153 - Synthetic construct Homo sapiens gateway clone IMAGE:100017069 5' read ATP6V0D1 mRNA.
AK125522 - Homo sapiens cDNA FLJ43534 fis, clone PLACE7001936.
AK128641 - Homo sapiens cDNA FLJ46800 fis, clone TRACH3031936, highly similar to Vacuolar ATP synthase subunit d (EC 3.6.1.34).
JD291263 - Sequence 272287 from Patent EP1572962.
JD477516 - Sequence 458540 from Patent EP1572962.
JD393438 - Sequence 374462 from Patent EP1572962.
JD519596 - Sequence 500620 from Patent EP1572962.
L32072 - Homo sapiens (clone XP3B4B) mRNA, partial EST.
JD389419 - Sequence 370443 from Patent EP1572962.
JD121479 - Sequence 102503 from Patent EP1572962.
AK301630 - Homo sapiens cDNA FLJ59090 complete cds, highly similar to Vacuolar ATP synthase subunit d (EC 3.6.3.14).
JD283649 - Sequence 264673 from Patent EP1572962.
L05087 - Homo sapiens proton ATPase accessory subunit mRNA, partial cds.
JD417217 - Sequence 398241 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-7980 - ATP biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein P61421 (Reactome details) participates in the following event(s):

R-HSA-5252133 ATP6AP1 binds V-ATPase
R-HSA-1222516 Intraphagosomal pH is lowered to 5 by V-ATPase
R-HSA-74723 Endosome acidification
R-HSA-917841 Acidification of Tf:TfR1 containing endosome
R-HSA-381038 XBP1(S) activates chaperone genes
R-HSA-381070 IRE1alpha activates chaperones
R-HSA-381119 Unfolded Protein Response (UPR)
R-HSA-77387 Insulin receptor recycling
R-HSA-917977 Transferrin endocytosis and recycling
R-HSA-983712 Ion channel transport
R-HSA-392499 Metabolism of proteins
R-HSA-74752 Signaling by Insulin receptor
R-HSA-917937 Iron uptake and transport
R-HSA-382551 Transport of small molecules
R-HSA-1222556 ROS, RNS production in phagocytes
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-168249 Innate Immune System
R-HSA-162582 Signal Transduction
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ATP6D, ATP6V0D1 , ENST00000290949.1, ENST00000290949.2, ENST00000290949.3, ENST00000290949.4, ENST00000290949.5, ENST00000290949.6, ENST00000290949.7, NM_004691, P12953, P61421, Q02547, uc317kwt.1, uc317kwt.2, VA0D1_HUMAN, VPATPD
UCSC ID: ENST00000290949.8_7
RefSeq Accession: NM_004691.5
Protein: P61421 (aka VA0D1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.