ATP6V0D1 - ATPase H+ transporting V0 subunit d1 Gene

Homo sapiens

Also known as P39; VATX; VMA6; ATP6D; ATP6DV; VPATPD

Gene ID: 9114 | Gene type: protein coding

About ATP6V0D1

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:67,438,019-67,481,157 (from NCBI)

This gene has 17 transcripts (splice variants), 210 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 53.8), thyroid (RPKM 41.0) and 25 other tissues.

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 encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008]

ATP6V0D1 Products(1)

mRNA	Protein	Name
NM_004691.5	NP_004682.2	V-type proton ATPase subunit d 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16713569	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to increased oxygen levels	IMP IMP: Inferred from mutant phenotype	28296633	GOA
involved in intracellular iron ion homeostasis	IMP IMP: Inferred from mutant phenotype	28296633	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
colocalizes with centrosome	IDA IDA: Inferred from direct assay	21844891	GOA
located in membrane	IDA IDA: Inferred from direct assay	18752060	GOA
part of vacuolar proton-transporting V-type ATPase complex	IDA IDA: Inferred from direct assay	18752060	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP6V0D1 Protein Structure

vATP-synt_AC39

0
100
200
300
351 a.a.

Protein Preferred Names

Protein Names

V-type proton ATPase subunit d 1

32 kDa accessory protein

Related Diseases

Diseases

Alias

Distal Renal Tubular Acidosis

Classic Rta	Familial Distal Primary Acidosis
Renal Tubular Acidosis Type 1	Drta
Renal Tubular Acidosis, Distal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01221	ATP6V0D1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ATP6V0D1	MGD	MGI:1201778
Bos taurus	ATP6V0D1	VGNC	VGNC:26312
Rattus norvegicus	ATP6V0D1	RGD	RGD:1306159
Canis familiaris	ATP6V0D1	VGNC	VGNC:38273
Felis catus	ATP6V0D1	VGNC	VGNC:60022
Macaca mulatta	ATP6V0D1	VGNC	VGNC:99485
Others	ATP6V0D1	NCBI

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