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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP6V1E1 Gene

protein-coding   GIFtS: 62
GCID: GC22M018074

ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump)...)
(Previous symbols: ATP6E, ATP6V1E)
 Explore 8 diseases affiliated with
ATP6V1E1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ATP6V1E1    

Aliases
for ATP6V1E1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
ATPase, H+ Transporting, Lysosomal 31kDa, V1 Subunit E11 2     V-ATPase Subunit E 12 3
ATP6E1 2 3 5     ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 31kD1
ATP6E21 2 3     ATPase, H+ Transporting, Lysosomal 31kDa, V1 Subunit E Isoform 11
ATP6V1E1 2     H(+)-Transporting Two-Sector ATPase, 31kDa Subunit2
P311 2     H+-Transporting ATP Synthase Chain E, Vacuolar2
Vma41 2     V-ATPase, Subunit E2
Vacuolar Proton Pump Subunit E 12 3     V-Type Proton ATPase Subunit E 12
V-ATPase 31 KDa Subunit2 3     P311 2

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

Export aliases for ATP6V1E1 gene to outside databases

Previous GC identifers: GC22M015015 GC22M016449 GC22M001890


Summaries
for ATP6V1E1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ATP6V1E1:
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)

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:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011519.10  
Regulatory elements:
   SABiosciences 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 plasmid: ATP6V1E1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP6V1E1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ATP6V1E1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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 ALDOC
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P36543

    • ATP6V1E1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000253413   ENSP00000382694   ENSP00000382696   ENSP00000398932  
    Reactome Protein details: P36543
    Human Recombinant Protein Products: 
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    Novus Biologicals ATP6V1E1 Proteins
    Novus Biologicals ATP6V1E1 Lysates
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    Uscn Proteins for ATP6V1E1

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--
    GO:0005768endosome ISS--
    GO:0005829cytosol TAS--
    GO:0005902microvillus IEA--


    ATP6V1E1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ATP6V1E1

    Protein Domains /
    Families
    for ATP6V1E1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ATP6V1E1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002842 ATPase_V1/A1-cplx_esu

    Graphical View of Domain Structure for InterPro Entry P36543

    ProtoNet protein and cluster: P36543

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

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


    Function
    for ATP6V1E1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008553hydrogen-exporting ATPase activity, phosphorylative mechanism IEA--
    GO:0046961proton-transporting ATPase activity, rotational mechanism IEA--


    ATP6V1E1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for ATP6V1E1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Insulin receptor recycling
    		Insulin receptor recycling1.00
    		Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    		Transferrin endocytosis and recycling0.79
    		Iron uptake and transport0.56
    		Collecting duct acid secretion0.68
    		Vibrio cholerae infection0.41
    		Phagosomal maturation (early endosomal stage)0.64
    		Epithelial cell signaling in Helicobacter pylori infection0.33
    2Disease
    		Disease1.00
    3Rheumatoid arthritis
    		Rheumatoid arthritis1.00
    4Phagosome
    		Phagosome1.00
    5IRS-related events
    		Signaling by Insulin receptor0.74

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/9        Reactome Pathways for ATP6V1E1 (see all 9)
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Latent infection of Homo sapiens with Mycobacterium tuberculosis
    Iron uptake and transport
    Disease


    5/7         Kegg Pathways  (Kegg details for ATP6V1E1) (see all 7):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Collecting duct acid secretion
    Vibrio cholerae infection


    ATP6V1E1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP6V1E1

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

    5/218 Interacting proteins for ATP6V1E1 (P365432, 3 ENSP000002534134) via UniProtKB, MINT, STRING, and/or I2D (see all 218)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (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--


    ATP6V1E1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ATP6V1E1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for ATP6V1E1:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    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]

    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--
    Search CenterWatch for drugs/clinical trials and news about ATP6V1E1 / VATE1 

    Transcripts
    for ATP6V1E1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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

    miRNA
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    Inhib. RNA
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    Clone
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    Additional cDNA 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 

    24/731 AceView cDNA sequences (see all 731):

    CB992123 BP429651 AJ712741 CA443839 AA534812 BM847441 BC004443 BP339275 
    AI590006 BG117063 BU727037 CR626384 CB125413 CR596207 CA421621 BQ181380 
    BM694200 F02720 CA867649 CD105329 CB118661 AI754793 CA455385 CB106910 

    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

    Expression
    for ATP6V1E1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATP6V1E1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AATATGCTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ATP6V1E1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbForelimb MyotomeLimb Muscle Progenitor CellsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ATP6V1E1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP6V1E1

    SOURCE GeneReport for Unigene cluster: Hs.517338

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

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    In Situ
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    Orthologs
    for ATP6V1E1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP6V1E1 gene from 10/34 species (see all 34)    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 --
    		 --
    		 85(a)
    		 1 → many
    		 5(14009609-14021280)
    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_169073.1  NP_730957.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea vha-81 Protein VHA-8 58.85(n)
    57.52(a)    		   177442  NM_068639.4  NP_501040.1 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes VMA4(YOR332W)4
    VMA41    		 Subunit E of the eight-subunit V1 peripheral membrane more4
    Vma4p1    		 46.07(n)1
    33.78(a)1    		   15(943656-944357)4
    8545091, 4  NP_014977.31  NP_014977.14 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons VHA-E21 V-type proton ATPase subunit E2 50.46(n)
    39.35(a)    		   820003  NM_111690.1  NP_187468.1 
    rice
    (Oryza sativa)    		 Liliopsida Os05g04807001 hypothetical protein 50.15(n)
    42.27(a)    		   4339122  NM_001062392.1  NP_001055857.1 


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

    Paralogs
    for ATP6V1E1 gene

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

    ATP6V1E1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for ATP6V1E1
    PGOHUM00000239495 PGOHUM00000234906 PGOHUM00000244694


    Genomic Variants
    for ATP6V1E1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/901 NCBI SNPs in ATP6V1E1 are shown (see all 901)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1128242731,2
    		--18074412(+) AACACG/AGTGAA 3 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1134292231,2
    		--18074489(+) TACTCG/CGGAAG 3 -- ds50011Minor allele frequency- C:0.50CSA 2
    rs72907591,2
    		C,--18074548(+) ccgagG/Atggca 3 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs72908861,2
    		C,F,--18074608(+) aaagaA/Taaaga 3 -- ds50011Minor allele frequency- T:0.20WA 118
    rs751733581,2
    		C,--18074635(+) GTTTTT/CCTCAT 3 -- ds50012Minor allele frequency- C:0.22CSA WA 120
    rs169808701,2
    		C,F,H,--18074684(+) GTGCAC/GGTCAC 3 -- ds50018Minor allele frequency- G:0.09NA EA NS CSA WA 540
    rs781218681,2
    		F,--18074765(+) ACAACG/AGGCAA 3 -- ds50011Minor allele frequency- A:0.03NA 120
    rs1169818781,2
    		--18074937(+) AAATCC/TGCATA 3 -- ut311Minor allele frequency- T:0.01EA 120
    rs1154579401,2
    		C,F,--18074940(+) TCCGCA/GTAACT 3 -- ut311Minor allele frequency- G:0.05WA 118
    rs74141,2
    		C,F,A,--18075053(+) 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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for ATP6V1E1
         3 CNVs: 35981 32449 35982
         3 Indels: 12254 40493 46200

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    Disorders / Diseases
    for ATP6V1E1 gene

    (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.)
    About This Section
    ATP6V1E1 for disorders           About GeneDecksing

    OMIM gene information: 108746    OMIM disorders: --

    8 diseases for ATP6V1E1:    About MalaCards
    osteopetrosis    cat eye syndrome    rheumatoid arthritis    brain cancer
    cholera    arthritis    malaria    neuronitis

    1 disease from the University of Copenhagen DISEASES database for ATP6V1E1:
    Coloboma

    Export disorders for ATP6V1E1 gene to outside databases

    Publications
    for ATP6V1E1 gene

    (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)
    About This Section

    PubMed articles for ATP6V1E1 gene, integrated from 9 sources (see all 47):
    (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. (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. (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. (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. (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. (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. (1992)
    7. A 600 kb 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. (2012)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    10. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)

    External Searches for ATP6V1E1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ATP6V1E1 gene

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

    Other Databases showing ATP6V1E1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ATP6V1E1 gene

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

    Intellectual Property
    for ATP6V1E1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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