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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
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
    Physical map
    FABP5P1 22q11 fatty acid binding protein 5, pseudogene 1 ADPRTL4 22q11.1 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 4 VWFP 22q11.22-q11.23 von Willebrand factor pseudogene MGC57211 22q11.21 hypothetical protein MGC57211 LOC391288 22 similar to zinc finger protein LOC391289 22 similar to GRB2-associated binding protein 2 isoform a; Grb2-associated binder 2 VN1R9P 22 vomeronasal 1 receptor 9 pseudogene LOC391290 22 similar to acetyl-Coenzyme A synthetase 3; medium-chain acyl-CoA synthetase; Butyrate CoA ligase IL17R 22q11.1 interleukin 17 receptor CECR6 22q11.2 cat eye syndrome chromosome region, candidate 6 CECR5 22q11.2 cat eye syndrome chromosome region, candidate 5 CECR1 22q11.2 cat eye syndrome chromosome region, candidate 1 RPL32L2 22q11.1 ribosomal protein L32-like 2 CLCP1 22q11.2 Charot-Leyden crystal protein pseudogene 1 CECR2 22q11.2 cat eye syndrome chromosome region, candidate 2 SLC25A18 22q11.2 solute carrier family 25, (mitochondrial carrier), member 18 ATP6V1E1 22q11.21 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1 BCL2L13 22q11.2 BCL2-like 13 (apoptosis facilitator) BID 22q11.21 BH3 interacting domain death agonist FLJ40542 22q11.21 hypothetical protein FLJ40542 LOC388843 22 LOC388843 KIAA0819 22q11.21 KIAA0819 protein MICAL3 22q11.21 flavoprotein oxidoreductase MICAL3 PEX26 22q11.21 peroxisome biogenesis factor 26 TUBA8 22q11 tubulin, alpha 8 USP18 22q11.21 ubiquitin specific protease 18 LOC391291 22 LOC391291 LOC388844 22 hypothetical gene supported by AK097777; AK128837; AK129567; BC040613 LOC220522 22q11.21 similar to Gamma-glutamyltranspeptidase 1 precursor (Gamma-glutamyltransferase 1) (CD224 antigen) LOC391292 22 similar to immunoglobulin superfamily, member 3; immunoglobin superfamily, member 3 LOC386610 22q11.21 E2F transcription factor 6 pseudogene LOC388845 22 LOC388845 LOC388846 22 similar to hypothetical protein DKFZp434P211.1 - human (fragments) LOC388847 22 similar to breakpoint cluster region isoform 1 LOC391293 22 LOC391293 LOC388848 22 LOC388848 DGCR6 22q11.21 DiGeorge syndrome critical region gene 6 PRODH 22q11.21 proline dehydrogenase (oxidase) 1 DGCR5 22q11 DiGeorge syndrome critical region gene 5 (non-coding)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1316 - 196 - 1997 9210392
    8 - 1340 - 204 - 1997 9210392
    9 - 1406 - 226 - 1997 9210392
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Olfactory (smell)olfactory bulb     Mus musculus
    Reproductivemale systemtestis    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Olfactoryepithelial cell Mus musculus
    Skeletonosteoclast
    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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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