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FLASH GENE

Symbol

ATP6V0A1

contributors: mct/npt/pgu - updated : 12-06-2024

HGNC name	ATPase, H+ transporting, lysosomal V0 subunit a1
HGNC id	865

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEE104 developmental and epileptic encephalopathy 104 NEDEBA neurodevelopmental disorder with epilepsy and brain atrophy
Location	17q21.2      Physical location : 40.610.861 - 40.674.596
Synonym name	ATPase, H+ transporting, lysosomal V0 subunit a isoform 1
	proteolipid subunit 9 of the mitochondrial H+-ATPase
	ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)
	clathrin-coated vesicle/synaptic vesicle proton pump 116
	kDa subunit
	vacuolar adenosine triphosphatase subunit Ac116
	V-ATPase 116 kDa isoform a1
Synonym symbol(s)	VPP1, ATP6N1, ATP6N1A, a1, Vph1, Stv1, DKFZp781J1951, voa1, DEE104, NEDEBA
EC.number	3.6.3.14/ 7.1.2.2

DNA

TYPE	functioning gene
STRUCTURE	63.74 kb     22 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001130020 21 - 4208 NP_001123492 - 838 - 1999 10224039 NM_001130021 22 - 4205 NP_001123493 - 837 - 1999 10224039 NM_005177 21 - 4187 NP_005168 - 831 - 1999 10224039

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas         Nervous brain       highly Homo sapiens Reproductive male system testis

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

V-ATPase 116 kDa subunit family

CATEGORY

enzyme , transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles

basic FUNCTION	ATPase H+ transporting, non catalytic accessory protein, vacuolar proton pump 1
	in the epididymis and vas deferens, the vacuolar H(+)ATPase (V-ATPase), located in the apical pole of narrow and clear cells, is required to establish an acidic luminal pH and also participates in the acidification of intracellular organelles
	ATP6V0A1, ATP6V0A2 cooperatively regulate the acidification and transmitter uptake/storage of dense-core vesicles, whereas they might not be as critical for exocytosis
	transport protons across cellular membranes to acidify various organelles
	essential roles of ATP6V0A1 in neuronal development in terms of integrity and connectivity of neurons
	is a regulator of peripheral metabolic memory, providing a potential target for regulation of food intake, weight loss maintenance and the treatment of obesity
	is involved in the exocytosis pathway, especially in vesicular transport in neurons

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

active transport

text	hydrogen ion transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein	interact with vacuolar type H+-ATPase (ATP6V0A1) which pumps
	protons at the osteoclast-bone interface
	NGF-induced upregulation of CALCA in orofacial pain induced by tooth movement is dependent on ATP6V0A1, and vesicle release (

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEE104 , NEDEBA

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

global knockout of ATP6V0A1 in mice causes embryonic lethality, whereas pyramidal neuron-specific knockout resulted in neuronal cell death with impaired spatial and learning memory