ATP6V1D ATPase H+ transporting V1 subunit D [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP6V1Dprovided by HGNC
Official Full Name: ATPase H+ transporting V1 subunit Dprovided by HGNC
Primary source: HGNC:HGNC:13527
See related: Ensembl:ENSG00000100554 MIM:609398; AllianceGenome:HGNC:13527
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: VATD; VMA8; ATP6M
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 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]
Expression: Ubiquitous expression in adrenal (RPKM 49.7), brain (RPKM 46.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q23.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (67337872..67359804, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (61544996..61566929, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (67804589..67826521, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Top single-nucleotide polymorphism rs9590614 in VMA8 is located within genes that function in cell-cell signaling and cell migration.
Title: Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A002U41 (e-PCR)
- UniSTS:56076

RH48795 (e-PCR)
- UniSTS:63548

GDB:437525 (e-PCR)
- UniSTS:157245

G60022 (e-PCR)
- UniSTS:137288

G36025 (e-PCR)
- UniSTS:48109

RH11239 (e-PCR)
- UniSTS:65520

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables proton-transporting ATPase activity, rotational mechanism	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Golgi lumen acidification	NAS Non-traceable Author Statement more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosomal lumen acidification	NAS Non-traceable Author Statement more info	PubMed
involved_in intracellular pH reduction	NAS Non-traceable Author Statement more info	PubMed
involved_in lysosomal lumen acidification	NAS Non-traceable Author Statement more info	PubMed
involved_in protein localization to cilium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proton transmembrane transport	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of macroautophagy	NAS Non-traceable Author Statement more info	PubMed
involved_in synaptic vesicle lumen acidification	IEA Inferred from Electronic Annotation more info
involved_in vacuolar acidification	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	NAS Non-traceable Author Statement more info	PubMed
colocalizes_with centrosome	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with cilium	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endosome membrane	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extrinsic component of synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	HDA more info	PubMed
located_in lysosomal membrane	NAS Non-traceable Author Statement more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of proton-transporting V-type ATPase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of proton-transporting V-type ATPase complex	IDA Inferred from Direct Assay more info	PubMed
part_of proton-transporting V-type ATPase complex	NAS Non-traceable Author Statement more info	PubMed
located_in specific granule membrane	TAS Traceable Author Statement more info
part_of vacuolar proton-transporting V-type ATPase, V1 domain	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: V-type proton ATPase subunit D

Names: ATPase, H+ transporting lysosomal, member M; ATPase, H+ transporting, lysosomal (vacuolar proton pump); ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D; H(+)-transporting two-sector ATPase, subunit M; V-ATPase 28 kDa accessory protein; V-ATPase D subunit; V-ATPase subunit D; vacuolar ATP synthase subunit D; vacuolar H-ATPase subunit D; vacuolar proton pump D subunit; vacuolar proton pump delta polypeptide; vacuolar proton pump subunit D; vacuolar proton-ATPase subunit D

NP_057078.1

EC 7.1.2.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.