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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

Corresponding disease	CDG2S congenital disorder of glycosylation, type 2S
Location	22q11.21      Physical location : 18.074.902 - 18.111.588
Synonym name	ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD
	vacuolar proton pump, 31-kd subunit
Synonym symbol(s)	ATPE, ATP6E, ATP6V1E, ATP6E2
EC.number	3.6.3.34

DNA

TYPE	functioning gene
STRUCTURE	36.00 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - CECR7 - IL17R - CECR4 - CECR3 - CECR9 - CECR2 - SLC25A18 - ATP6V1E1 - BCL2L13 - BID
Authors	Footz (01)
Text	see CECR

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001039367 8 - 1316 NP_001034456 - 196 - 1997 9210392 NM_001039366 8 - 1340 NP_001034455 - 204 - 1997 9210392 NM_001696 9 - 1406 NP_001687 - 226 - 1997 9210392

EXPRESSION

Type	restricted

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 Olfactory (smell) olfactory bulb         Mus musculus Reproductive male system testis       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Olfactory epithelial cell Mus musculus Skeleton osteoclast

cell lineage

cell lines

fluid/secretion

at STAGE

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