Gene Gene information from NCBI Gene database.
Entrez ID 51382
Gene name ATPase H+ transporting V1 subunit D
Gene symbol ATP6V1D
Synonyms (NCBI Gene)
ATP6MVATDVMA8
Chromosome 14
Chromosome location 14q23.3
Summary 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 sort
miRNA miRNA information provided by mirtarbase database.
292
miRTarBase ID miRNA Experiments Reference
MIRT809314 hsa-miR-106a CLIP-seq
MIRT809315 hsa-miR-106b CLIP-seq
MIRT809316 hsa-miR-1257 CLIP-seq
MIRT809317 hsa-miR-17 CLIP-seq
MIRT809318 hsa-miR-20a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane NAS 32001091
GO:0000221 Component Vacuolar proton-transporting V-type ATPase, V1 domain ISS
GO:0005515 Function Protein binding IPI 18752060, 21844891, 25416956, 32296183, 33961781, 35271311
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609398 13527 ENSG00000100554
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y5K8
Protein name V-type proton ATPase subunit D (V-ATPase subunit D) (V-ATPase 28 kDa accessory protein) (Vacuolar proton pump subunit D)
Protein function Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:33065002). V-ATPase is responsibl
PDB 6WLZ , 6WM2 , 6WM3 , 6WM4 , 7U4T , 7UNF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01813 ATP-synt_D 15 207 ATP synthase subunit D Family
Sequence
Sequence length 247
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Phagosome
mTOR signaling pathway
Synaptic vesicle cycle
Collecting duct acid secretion
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Human papillomavirus infection
Rheumatoid arthritis
  ROS and RNS production in phagocytes
Neutrophil degranulation
Insulin receptor recycling
Transferrin endocytosis and recycling
Amino acids regulate mTORC1
Ion channel transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 40021385 Inhibit
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 25006744
★☆☆☆☆
Found in Text Mining only