ATP6V1D - ATPase H+ transporting V1 subunit D Gene

Homo sapiens

Also known as VATD; VMA8; ATP6M

Gene ID: 51382 | Gene type: protein coding

About ATP6V1D

Cytogenetic location: 14q23.3 Genomic coordinates (GRCh38): 14:67,337,872-67,359,804 (from NCBI)

This gene has 14 transcripts (splice variants) and 227 orthologues. Ubiquitous expression in adrenal (RPKM 49.7), brain (RPKM 46.5) 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 gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008]

ATP6V1D Products(1)

mRNA	Protein	Name
NM_015994.4	NP_057078.1	V-type proton ATPase subunit D

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18752060	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	21844891	GOA
involved in protein localization to cilium	IMP IMP: Inferred from mutant phenotype	21844891	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
colocalizes with centrosome	IDA IDA: Inferred from direct assay	21844891	GOA
colocalizes with cilium	IDA IDA: Inferred from direct assay	21844891	GOA
located in membrane	IDA IDA: Inferred from direct assay	18752060	GOA
part of 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

ATP6V1D Protein Structure

ATP-synt_D

0
100
200
247 a.a.

Protein Preferred Names

Protein Names

V-type proton ATPase subunit D

ATPase, H+ transporting lysosomal, member M

ATP6V1D Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ATP6V1D	Q9Y5K8	HAUS1	Homo sapiens	Q96CS2	Y2H Prey Pooling	32296183
Intra	ATP6V1D	Q9Y5K8	HAUS1	Homo sapiens	Q96CS2	Y2H Array	32296183
Intra	ATP6V1D	Q9Y5K8	VPS52	Homo sapiens	Q8N1B4	Y2H Prey Pooling	25416956
Intra	ATP6V1D	Q9Y5K8	VPS52	Homo sapiens	Q8N1B4	Y2H Array	25416956
Intra	ATP6V1D	Q9Y5K8	VPS52	Homo sapiens	Q8N1B4	Y2H Prey Pooling	32296183
Intra	ATP6V1D	Q9Y5K8	VPS52	Homo sapiens	Q8N1B4	Y2H Array	32296183
Intra	ATP6V1D	Q9Y5K8	KRT27	Homo sapiens	Q7Z3Y8	Y2H Prey Pooling	32296183
Intra	ATP6V1D	Q9Y5K8	KRT27	Homo sapiens	Q7Z3Y8	Y2H Array	32296183
Intra	ATP6V1D	Q9Y5K8	ATP6V1F	Homo sapiens	Q16864	Anti Tag CoIP	33961781
Intra	ATP6V1D	Q9Y5K8	BBLN	Homo sapiens	Q9BUW7	Y2H Prey Pooling	32296183
Intra	ATP6V1D	Q9Y5K8	BBLN	Homo sapiens	Q9BUW7	Anti Tag CoIP	33961781
Intra	ATP6V1D	Q9Y5K8	BBLN	Homo sapiens	Q9BUW7	MAPPIT	32296183
Intra	ATP6V1D	Q9Y5K8	BBLN	Homo sapiens	Q9BUW7	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Cerebritis

N Syndrome

NSX	Intellectual Disability, Malformations, Chromosome Breakage, And Development Of T-Cell Leukemia

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P2657	Verucopeptin	Inhibitor	≥99.0%	Unkown
HY-RS01228	ATP6V1D Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ATP6V1D	MGD	MGI:1921084
Rattus norvegicus	ATP6V1D	RGD	RGD:735119
Macaca mulatta	ATP6V1D	VGNC	VGNC:70060
Bos taurus	ATP6V1D	VGNC	VGNC:26321
Canis familiaris	ATP6V1D	VGNC	VGNC:38280
Felis catus	ATP6V1D	VGNC	VGNC:81032

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