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FLASH GENE

Symbol

ATP6V0A4

contributors: npt/ - updated : 05-02-2007

HGNC name	ATPase, H+ transporting, lysosomal V0 subunit a4
HGNC id	866

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DRTAB2 severe renal tubular acidosis, 2
Location	7q34      Physical location : 138.391.039 - 138.482.941
Synonym name	ATPase, H+ transporting, lysosomal V0 subunit a isoform 4
	vacuolar protein pump subunit 2
	ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B
	V- ATPase 116 kDa isoform a4
Synonym symbol(s)	RDRTA2, RTA1C, VP2, RTADR, ATP6N1B, VPP2, A4, VPM1, STV1, ATP6N2, MGC130017
EC.number	3.6.3.14

DNA

TYPE	functioning gene
STRUCTURE	91.90 kb     21 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	same protein for the three variants

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020632 22 splicing 3152 NP_065683 96.4 840 - Smith (2000) NM_130840 21 splicing 3049 NP_570855 96.4 840 - Smith (2000) missing an internal segment NM_130841 21 splicing 3107 NP_570856 96.4 840 - Smith (2000) including a unique 5'UTR sequence

EXPRESSION

Type

constitutive of

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 Hearing/Equilibrium ear inner cochlea     Reproductive male system prostate       Urinary kidney tubule Henles loop       kidney tubule convoluted tubule proximal tubule

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory stato-auditory

cells

System Cell Pubmed Species Stage Rna symbol Urinary tubular cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

kidney

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal hydrophilic intracellular region
	a catalytic domain
	six putative transmembrane segments
	a cytoplasmic C terminal tail

mono polymer

heteromer , polymer

HOMOLOGY

interspecies

homolog to murine Atp6v0a4

intraspecies

homolog to ATP6N1A,OC116

Homologene

FAMILY

V-type ATPases family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,lysosome
text	apical surface of alpha intercalated cells

basic FUNCTION	multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles
	contributing to neurotransmitter accumulation in synaptic vesicles first, and then release from these organelles during synaptic activity
	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 (Pietrement 2006)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

text	proton pump that acidify intracellular compartments

PATHWAY

metabolism

signaling

a component

component of the heteromultimeric complex composed of a peripheral catalytic V1 complex attached to an integral V0 membrane pore complex

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DRTAB2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS