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FLASH GENE

Symbol

ATP6V1E1

contributors: mct - updated : 08-03-2017

HGNC name	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1
HGNC id	857

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

V-ATPase family

CATEGORY

enzyme , transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic

basic FUNCTION	ATPase H+ transporting
	regulating subunit, ATP binding and hydrolysis of the A and B subunits
	may be involved in proton secretion in the olfactory epithelial (OE) cells and, as such, may be important for the pH homeostasis of the neuroepithelial mucous layer and/or for signal transduction in CO(2) detection

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

PATHWAY

metabolism

energetic

signaling

a component

component of a complex with ATP6C and ATP6D binding to the hexamer ATP6A/ATP6B

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CDG2S

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   amplification     of the genes CECR2, SLC25A18 and ATP6V1E1, mapping within the critical region for CES, may be responsible for anorectal, renal and preauricular anomalies in patients with Cat eye syndrome (CES)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS