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ATP6V1E1 Gene

protein-coding   GIFtS: 68
GCID: GC22M018074

ATPase, H+ Transporting, Lysosomal 31kDa, V1 Subunit E1

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump)...)
(Previous symbols: ATP6E, ATP6V1E)
  See ATP6V1E1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
ATPase, H+ Transporting, Lysosomal 31kDa, V1 Subunit E11 2     ATPase, H+ Transporting, Lysosomal 31kDa, V1 Subunit E Isoform 11
ATP6E1 2 3 5     P312
ATP6V1E1 2     Vma42
Vacuolar Proton Pump Subunit E 12 3     H(+)-Transporting Two-Sector ATPase, 31kDa Subunit2
ATP6E22 3     H+-Transporting ATP Synthase Chain E, Vacuolar2
V-ATPase 31 KDa Subunit2 3     V-ATPase, Subunit E2
V-ATPase Subunit E 12 3     V-Type Proton ATPase Subunit E 12
ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 31kD1     p313

External Ids:    HGNC: 8571   Entrez Gene: 5292   Ensembl: ENSG000001311007   OMIM: 1087465   UniProtKB: P365433   
ORGUL members:         

Export aliases for ATP6V1E1 gene to outside databases

Previous GC identifers: GC22M015015 GC22M016449 GC22M001890


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ATP6V1E1 Gene:
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of
eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such
intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic
vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain.
The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1
domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding
different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. (provided by
RefSeq, Jul 2008)

GeneCards Summary for ATP6V1E1 Gene:
ATP6V1E1 (ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1) is a protein-coding gene. Diseases associated with ATP6V1E1 include cat eye syndrome. GO annotations related to this gene include ATPase binding and hydrogen-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1E2.

UniProtKB/Swiss-Prot: VATE1_HUMAN, P36543
Function: Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function.
V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells

summary for ATP6V1E1 Gene:
H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify
intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane
organelles such as vacuoles, lysosomes, endosomes, the Golgi apparatus, chromaffin granules and coated
vesicles, as well as in the plasma membrane. H+-ATPase is a multisubunit complex composed of two domains.
The V1 domain is responsible for ATP hydrolysis and the V0 domain is responsible for protein translocation.
There are two main mechanisms of regulating H+-ATPase activity; recycling of H+-ATPase-containing vesicles
to and from the plasma membrane and glucose-sensitive assembly/disassembly of the holoenzyme complex. These
transporters play an important role in processes such as receptor-mediated endocytosis, protein degradation
and coupled transport. They have a function in bone reabsorption and mutations in the A3 gene cause
recessive osteopetrosis. Furthermore, H+-ATPases have been implicated in tumor metastasis and regulation of
sperm motility and maturation.

Gene Wiki entry for ATP6V1E1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_187355.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP6V1E1 gene promoter:
         AhR   NF-YA   Egr-1   Arnt   NF-YB   CBF-A   CBF-B   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V1E1 promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP6V1E1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q11.1   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.2

ATP6V1E1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V1E1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M018074:  view genomic region     (about GC identifiers)

Start:
18,074,902 bp from pter      End:
18,111,588 bp from pter
Size:
36,687 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: VATE1_HUMAN, P36543 (See protein sequence)
Recommended Name: V-type proton ATPase subunit E 1  
Size: 226 amino acids; 26145 Da
Subunit: V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H)
attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d). Interacts with
RABL2/RABL2A; binds preferentially to GTP-bound RABL2 (By similarity). Interacts with ALDOC. Interacts with
RAB11B
Secondary accessions: A8MUE4 A8MUN4
Alternative splicing: 3 isoforms:  P36543-1   P36543-2   P36543-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATP6V1E1: NX_P36543

Explore proteomics data for ATP6V1E1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys10
  • Modification sites at PhosphoSitePlus

  • See ATP6V1E1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001034455.1  NP_001034456.1  NP_001687.1  

    ENSEMBL proteins: 
     ENSP00000253413   ENSP00000382694   ENSP00000382696   ENSP00000398932  
    Reactome Protein details: P36543

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    VATP: ATPases / V-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: E1
    V-type ATPase

    1 InterPro protein domain:
     IPR002842 ATPase_V1/A1-cplx_esu

    Graphical View of Domain Structure for InterPro Entry P36543

    ProtoNet protein and cluster: P36543

    1 Blocks protein domain: IPB002842 H+-transporting two-sector ATPase

    UniProtKB/Swiss-Prot: VATE1_HUMAN, P36543
    Similarity: Belongs to the V-ATPase E subunit family


    Find genes that share domains with ATP6V1E1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VATE1_HUMAN, P36543
    Function: Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function.
    V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11399750
    GO:0008553hydrogen-exporting ATPase activity, phosphorylative mechanism IEA--
    GO:0046961proton-transporting ATPase activity, rotational mechanism IEA--
    GO:0051117ATPase binding IPI--
         
    Find genes that share ontologies with ATP6V1E1           About GenesLikeMe


    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    endosome4
    plasma membrane4
    mitochondrion2
    peroxisome2
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--
    GO:0005765lysosomal membrane IDA17897319
    GO:0005768endosome ISS--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with ATP6V1E1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP6V1E1 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Insulin receptor recycling
    Insulin receptor recycling0.74
    Collecting duct acid secretion0.66
    Transferrin endocytosis and recycling0.74
    Vibrio cholerae infection0.40
    Iron uptake and transport0.70
    Epithelial cell signaling in Helicobacter pylori infection0.32
    2Insulin receptor signalling cascade
    Signaling by Insulin receptor0.80
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.64
    4Signaling by GPCR
    Signal Transduction0.58
    5Synaptic vesicle cycle
    Synaptic vesicle cycle0.50


    Find genes that share SuperPaths with ATP6V1E1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3 Reactome Pathways for ATP6V1E1
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Transferrin endocytosis and recycling


    Selected Kegg Pathways  (Kegg details for ATP6V1E1) (see all 8):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Synaptic vesicle cycle
    Collecting duct acid secretion

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP6V1E1
    Interactions:

        Search GeneGlobe Interaction Network for ATP6V1E1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ATP6V1E1 (P365432, 3 ENSP000002534134) via UniProtKB, MINT, STRING, and/or I2D (see all 256)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000227587O956702, 3MINT-62638 MINT-62736 MINT-62812 I2D: score=7 
    ENSG00000230900O956702, 3MINT-62638 MINT-62736 MINT-62812 I2D: score=7 
    ENSG00000234668O956702, 3MINT-62638 MINT-62736 MINT-62812 I2D: score=7 
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0008286insulin receptor signaling pathway TAS--
    GO:0015991ATP hydrolysis coupled proton transport IEA--
    GO:0015992proton transport TAS8250920
    GO:0033572transferrin transport TAS--

    Find genes that share ontologies with ATP6V1E1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Compounds for ATP6V1E1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Bafilomycin A1H+-ATPase (vacuolar) inhibitor[88899-55-2]
    Concanamycin AH+-ATPase (vacuolar) inhibitor[80890-47-7]
    DisulfiramReversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities[97-77-8]

    4 HMDB Compounds for ATP6V1E1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ATP6V1E1 gene (3 alternative transcripts): 
    NM_001039366.1  NM_001039367.1  NM_001696.3  

    Unigene Cluster for ATP6V1E1:

    ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
    Hs.517338  [show with all ESTs]
    Unigene Representative Sequence: BU502528
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000253413(uc002zmr.1 uc002zms.1 uc002zmt.1) ENST00000399796
    ENST00000399798 ENST00000473248 ENST00000413576 ENST00000481365 ENST00000484653
    ENST00000478963 ENST00000460085
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    Additional mRNA sequence: 

    AK294623.1 AK312394.1 AK315941.1 BC004443.1 BT007128.1 CR456385.1 X71491.1 X76228.1 

    18 DOTS entries:

    DT.100806431  DT.100879257  DT.100879258  DT.100879251  DT.453996  DT.100879242  DT.92453401  DT.91930481 
    DT.100879250  DT.120653529  DT.100879240  DT.100879254  DT.100879256  DT.100654596  DT.100768843  DT.95373216 
    DT.99928011  DT.120653457 

    Selected AceView cDNA sequences (see all 731):

    BX332060 BX333882 BQ775878 BQ637607 BM811481 CB139763 CB118977 AA604148 
    NM_001696 BM699906 BI791977 N57383 F08517 F03787 BG696820 BM702928 
    CB124582 BX367408 BX449277 R26845 BQ271477 BU538811 BM968860 AA368732 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1E1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b
    SP1:                                -           -           -                                 
    SP2:                    -           -           -           -                                 
    SP3:                                -           -                                             
    SP4:                                -                                                         
    SP5:                                                                                          


    ECgene alternative splicing isoforms for ATP6V1E1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATP6V1E1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATATGCTTT
    ATP6V1E1 Expression
    About this image


    ATP6V1E1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Myoblasts Mandibular Arch Muscles
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Kidney (Urinary System)
             Metanephros
    ATP6V1E1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP6V1E1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517338

    UniProtKB/Swiss-Prot: VATE1_HUMAN, P36543
    Tissue specificity: Ubiquitous

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP6V1E1 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6v1e11 , 5 ATPase, H+ transporting, lysosomal V1 subunit E11, 5 91(n)1
    98.67(a)1
      6 (57.01 cM)5
    119731  NM_007510.21  NP_031536.21 
     1207952455 
    chicken
    (Gallus gallus)
    Aves ATP6V1E11 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit more 82.15(n)
    88.05(a)
      418162  NM_001006246.1  NP_001006246.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    85(a)
    1 → many
    5(14007255-14021280)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia MGC757612 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit more 76.2(n)    BC061292.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp6v1e12 ATPase, H+ transporting, lysosomal, V1 subunit E isoform more 74.89(n)   192335  BC057254.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vha261 Vacuolar H[+]-ATPase 26kD E subunit 61.8(n)
    63.27(a)
      40679  NM_079513.3  NP_524237.1 
    worm
    (Caenorhabditis elegans)
    Secernentea vha-81 vha-8 58.85(n)
    57.52(a)
      177442  NM_068639.5  NP_501040.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA4(YOR332W)4
    VMA41
    Subunit E of the eight-subunit V1 peripheral membrane more4
    VMA41
    48.22(n)1
    37.21(a)1
      15(943656-944357)4
    8545091, 4  NP_014977.31  NP_014977.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons VHA-E21 VHA-E2 50.46(n)
    39.35(a)
      820003  NM_111690.1  NP_187468.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g04807001 Os05g0480700 50.93(n)
    43.46(a)
      4339122  NM_001062392.1  NP_001055857.1 


    ENSEMBL Gene Tree for ATP6V1E1 (if available)
    TreeFam Gene Tree for ATP6V1E1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP6V1E1 gene
    ATP6V1E22  
    4 SIMAP similar genes for ATP6V1E1 using alignment to 3 protein entries:     VATE1_HUMAN (see all proteins):
    FAM175A    ATP6V1E2    FP1523    MEF2BNB

    Find genes that share paralogs with ATP6V1E1           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for ATP6V1E1
    PGOHUM00000239495 PGOHUM00000234906 PGOHUM00000244694


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATP6V1E1 (see all 1098)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365654
    A colorectal cancer sample4--see VAR_0365652 R G mis40--------
    rs72907591,2
    C,F--2019793(+) ccgagG/Atggca 3 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs72908861,2
    C,F--2019853(+) aaagaA/Taaaga 3 -- ds50011Minor allele frequency- T:0.20WA 118
    rs751733581,2
    C--2019880(+) GTTTTT/CCTCAT 3 -- ds50012Minor allele frequency- C:0.22CSA WA 120
    rs169808701,2
    C,F,H--2019929(+) GTGCAC/GGTCAC 3 -- ds50018Minor allele frequency- G:0.09NA EA NS CSA WA 540
    rs781218681,2
    C,F--2020010(+) ACAACG/AGGCAA 3 -- ds50011Minor allele frequency- A:0.03NA 120
    rs1133669731,2
    C--2020179(+) ATTAAA/TTCCGC 3 -- ut310--------
    rs1169818781,2
    C--2020182(+) AAATCC/TGCATA 3 -- ut311Minor allele frequency- T:0.01EA 120
    rs1154579401,2
    C,F--2020185(+) TCCGCA/GTAACT 3 -- ut311Minor allele frequency- G:0.05WA 118
    rs74141,2
    C,F,A--2020298(+) TGGAAG/AGAGTG 3 -- ut31 ese310Minor allele frequency- A:0.11MN EA NA WA CSA 2061

    HapMap Linkage Disequilibrium report for ATP6V1E1 (18074902 - 18111588 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for ATP6V1E1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667900CNV Deletion23128226
    esv2272803CNV Deletion18987734
    nsv9871CNV Loss18304495
    nsv191259CNV Loss16902084
    nsv3553CNV Loss18451855
    nsv914150CNV Loss21882294
    nsv510802CNV Loss20534489
    nsv526826CNV Gain19592680
    nsv914151CNV Gain21882294
    nsv428385CNV Gain+Loss18775914

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP6V1E1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP6V1E1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 108746    OMIM disorders: --

    1 disease for ATP6V1E1:    
    About MalaCards
    cat eye syndrome

    2 diseases from the University of Copenhagen DISEASES database for ATP6V1E1:
    Coloboma     Oligodendroglioma

    Find genes that share disorders with ATP6V1E1           About GenesLikeMe

    Genetic Association Database (GAD): ATP6V1E1

    Export disorders for ATP6V1E1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATP6V1E1 gene, integrated from 10 sources (see all 51):
    (articles sorted by number of sources associating them with ATP6V1E1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The E subunit of vacuolar H(+)-ATPase localizes close to the centromere on human chromosome 22. (PubMed id 8004105)1, 2, 3 Baud V.... Lipinski M. (Hum. Mol. Genet. 1994)
    2. Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase. (PubMed id 8250920)1, 2, 3 van Hille B.... Bilbe G. (Biochem. Biophys. Res. Commun. 1993)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. A human gene, ATP6E1, encoding a testis-specific isoform of H(+)- ATPase subunit E. (PubMed id 12036578)1, 2 Imai-Senga Y.... Futai M. (Gene 2002)
    5. Interaction between aldolase and vacuolar H+-ATPase: evidence for direct coupling of glycolysis to the ATP-hydrolyzing proton pump. (PubMed id 11399750)1, 2 Lu M.... Gluck S.L. (J. Biol. Chem. 2001)
    6. Immunologic evidence that vacuolar H+ ATPases with heterogeneous forms of Mr = 31,000 subunit have different membrane distributions in mammalian kidney. (PubMed id 1533641)1, 2 Hemken P.... Gluck S. (J. Biol. Chem. 1992)
    7. A 600a88kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family. (PubMed id 22395867)1 Knijnenburg J....van Zutven L.J. (Eur. J. Hum. Genet. 2012)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    10. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 529 HGNC: 857 AceView: ATP6V1E1 Ensembl:ENSG00000131100 euGenes: HUgn529
    ECgene: ATP6V1E1 Kegg: 529 H-InvDB: ATP6V1E1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATP6V1E1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATP6V1E1 gene:
    Search GeneIP for patents involving ATP6V1E1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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