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FLASH GENE

Symbol

ATP6V1B1

contributors: - updated : 10-11-2006

HGNC name	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 1 (Renal tubular acidosis with deafness)
HGNC id	853

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DRTAB1 distal renal tubular acidosis, 1
Location	2p13      Physical location : 71.162.997 - 71.192.560
Synonym symbol(s)	VPP3, VATB, ATP6B1, VAM2, RTA1B
EC.number	3.6.3.34

DNA

TYPE	functioning gene
STRUCTURE	29.00 kb     14 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	pter - D2S370 - D2S2397 - D2S134 - [D2S441 - D2S292 - D2S1394 ] - D2S286 - D2S1774 - D2S1777 - cen
Text	[ATP6B1 ]

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type	restricted

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 female system ovary         female system placenta         female system breast mammary gland     urinary kidney nephron distal convoluted tubule

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	nucleotide-binding domain
	ATP synthase alpha/beta chain, C terminal domain

HOMOLOGY

Homologene

FAMILY

V-ATPase family

CATEGORY

enzyme , transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endosome

basic FUNCTION

ATPase synthase H+ transporting, catalytic subunit of the peripheral V1 complex of the vacuolar proton pump

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

PATHWAY

metabolism

energetic

signaling

sensory transduction/hearing

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

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DRTAB1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS