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EEA1 Gene

protein-coding   GIFtS: 67
GCID: GC12M093102

Early Endosome Antigen 1

(Previous names: early endosome antigen 1, 162kD)
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(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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Aliases
Early Endosome Antigen 11 2     ZFYVE22 3
Early Endosome Antigen 1, 162kD1 2     MST1052
Endosome-Associated Protein P1622 3     MSTP1052
Zinc Finger FYVE Domain-Containing Protein 22 3     Early Endosome-Associated Protein2

External Ids:    HGNC: 31851   Entrez Gene: 84112   Ensembl: ENSG000001021897   OMIM: 6050705   UniProtKB: Q150753   

Export aliases for EEA1 gene to outside databases

Previous GC identifers: GC12M092561 GC12M093628 GC12M091671 GC12M091668 GC12M090233


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for EEA1 Gene:
EEA1 (early endosome antigen 1) is a protein-coding gene. GO annotations related to this gene include protein homodimerization activity and 1-phosphatidylinositol binding. An important paralog of this gene is FYCO1.

UniProtKB/Swiss-Prot: EEA1_HUMAN, Q15075
Function: Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in endosomal
trafficking




(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_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EEA1 gene promoter:
         c-Fos   Nkx6-1   AML1a   AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEEA1 promoter sequence
   Search Chromatin IP Primers for EEA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EEA1


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

Entrez Gene cytogenetic band: 12q22   Ensembl cytogenetic band:  12q22   HGNC cytogenetic band: 12q22

EEA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EEA1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M093102:  view genomic region     (about GC identifiers)

Start:
93,164,413 bp from pter      End:
93,323,107 bp from pter
Size:
158,695 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: EEA1_HUMAN, Q15075 (See protein sequence)
Recommended Name: Early endosome antigen 1  
Size: 1411 amino acids; 162466 Da
Subunit: Homodimer. Binds STX6. Binds RAB5A, RAB5B, RAB5C and RAB22A that have been activated by GTP-binding.
Interacts with RAB31. Interacts with ERBB2. May interact with PLEKHF2
Miscellaneous: Antibodies against EEA1 are found in sera from patients with subacute cutaneous lupus erythematosus
and other autoimmune diseases
4 PDB 3D structures from and Proteopedia for EEA1:
1HYI (3D)        1HYJ (3D)        1JOC (3D)        3MJH (3D)    
Secondary accessions: Q14221

Explore the universe of human proteins at neXtProt for EEA1: NX_Q15075

Explore proteomics data for EEA1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys58
  • Modification sites at PhosphoSitePlus

  • See EEA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003557.2  
    ENSEMBL proteins: 
     ENSP00000317955   ENSP00000394312   ENSP00000446785   ENSP00000449682  
    Reactome Protein details: Q15075

    EEA1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for EEA1

     
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    Abcam antibodies for EEA1 (H9G0K4, Q15075)
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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:
    ZFYVE: Zinc fingers, FYVE domain containing

    Selected InterPro protein domains (see all 6):
     IPR015880 Znf_C2H2-like
     IPR000306 Znf_FYVE
     IPR017455 Znf_FYVE-rel
     IPR013083 Znf_RING/FYVE/PHD
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q15075

    ProtoNet protein and cluster: Q15075

    1 Blocks protein domain: IPB000306 Zn-finger

    UniProtKB/Swiss-Prot: EEA1_HUMAN, Q15075
    Domain: The FYVE-type zinc finger domain mediates interactions with phosphatidylinositol 3-phosphate in membranes
    of early endosomes and penetrates bilayers. The FYVE domain insertion into PtdIns(3)P-enriched membranes is
    substantially increased in acidic conditions
    Similarity: Contains 1 C2H2-type zinc finger
    Similarity: Contains 1 FYVE-type zinc finger


    Find genes that share domains with EEA1           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: EEA1_HUMAN, Q15075
    Function: Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in endosomal
    trafficking

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10491193
    GO:0005516calmodulin binding NAS11741531
    GO:00055451-phosphatidylinositol binding IDA11256955
    GO:0008270zinc ion binding TAS11741531
    GO:0030742GTP-dependent protein binding IDA10491193
         
    Find genes that share ontologies with EEA1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for EEA1:
     Cell division defect  Increased G2M DNA content, inc 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EEA1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for EEA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EEA1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EEA1

    miRNA
    Products:
        
    miRTarBase miRNAs that target EEA1:
    hsa-mir-335-5p (MIRT018646), hsa-mir-375 (MIRT020049), hsa-mir-192-5p (MIRT026762), hsa-mir-124-3p (MIRT023050)

    Block miRNA regulation of human, mouse, rat EEA1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EEA1 (see all 95):
    hsa-miR-548j hsa-miR-640 hsa-miR-300 hsa-miR-106a hsa-miR-30d hsa-miR-519a hsa-miR-342-3p hsa-miR-502-3p
    SwitchGear 3'UTR luciferase reporter plasmidEEA1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for EEA1
    Predesigned siRNA for gene silencing in human, mouse, rat EEA1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for EEA1

    Clone
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    OriGene ORF clones in mouse, rat for EEA1
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    GenScript: all cDNA clones in your preferred vector: EEA1 (NM_003566)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EEA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EEA1
    Addgene plasmids for EEA1 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EEA1

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12193) for EEA1 


    (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 UniProtKB/Swiss-Prot
    EEA1_HUMAN, Q15075: Cytoplasm. Early endosome membrane; Peripheral membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endosome5
    plasma membrane5
    lysosome3
    nucleus3
    vacuole3
    cytoskeleton2
    golgi apparatus2
    endoplasmic reticulum1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS7768953
    GO:0005768endosome ----
    GO:0005769early endosome IDA11741531
    GO:0005829cytosol IDA7768953
    GO:0005886plasma membrane ----

    Find genes that share ontologies with EEA1           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 EEA1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Clathrin dependent protein traffic
    Clathrin dependent protein traffic0.66
    Transport Clathrin coated vesicle cycle0.66
    2Delta508 CFTR traffic Sorting endosome formation in CF
    Normal wtCFTR traffic Sorting endosome formation0.00
    Delta508 CFTR traffic Sorting endosome formation in CF
    3Toll Like Receptor 7/8 (TLR7/8) Cascade
    Toll Like Receptor 9 (TLR9) Cascade0.93
    4Tuberculosis
    Tuberculosis
    5Phagosome
    Phagosome


    Find genes that share SuperPaths with EEA1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for EEA1
        Cytoskeletal Signaling

    3 GeneGo (Thomson Reuters) Pathways for EEA1
        Normal wtCFTR traffic / Sorting endosome formation
    Delta508-CFTR traffic / Sorting endosome formation in CF
    Transport Clathrin-coated vesicle cycle

    1 Reactome Pathway for EEA1
        Toll Like Receptor 9 (TLR9) Cascade


    3 Kegg Pathways  (Kegg details for EEA1):
        Endocytosis
    Phagosome
    Tuberculosis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EEA1
    Interactions:

        GeneGlobe Interaction Network for EEA1

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

    Selected Interacting proteins for EEA1 (Q150751, 2, 3 ENSP000003179554) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KIF16BQ96L932, 3, ENSP000003470764MINT-5225389 MINT-5225409 MINT-5225437 MINT-5225458 I2D: score=1 STRING: ENSP00000347076
    RAB22AQ9UL261, 3, ENSP000002440404EBI-298113,EBI-399456 I2D: score=3 STRING: ENSP00000244040
    GIT1Q9Y2X72, 3, ENSP000003783384MINT-3374980 I2D: score=1 STRING: ENSP00000378338
    RAB14P611062, 3, ENSP000003629464MINT-3369756 I2D: score=1 STRING: ENSP00000362946
    TOM1L1O756742, 3, ENSP000004089584MINT-7980554 I2D: score=1 STRING: ENSP00000408958
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006897endocytosis IMP--
    GO:0006906vesicle fusion IMP9697774
    GO:0016189synaptic vesicle to endosome fusion TAS11741531
    GO:0045022early endosome to late endosome transport NAS7768953

    Find genes that share ontologies with EEA1           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EEA1

    1 HMDB Compound for EEA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    1 DrugBank Compound for EEA1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Inositol 1,3-Bisphosphate-- --target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for EEA1 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 3-phosphate 92 34 11602609 (5), 12857876 (4), 11329382 (2), 16522686 (1) (see all 13)
    ptdins(3)p 83.4 21 11564757 (3), 11329382 (3), 16141328 (2), 10652369 (2) (see all 9)
    wortmannin 62.7 2 14521088 (1), 10332740 (1)
    phosphatidylinositol 58.5 11 16522686 (1), 12911814 (1), 19824473 (1), 17651088 (1) (see all 8)
    phosphoinositide 50.2 1 16141328 (1)
    mannose 6-phosphate 33.7 2 11404461 (1)
    nmda 16.7 1 17113235 (1)
    chloroquine 12.6 1 12867541 (1)
    cholesterol 11 2 12584196 (2)
    lipid 10.7 1 14578346 (1)



    Find genes that share compounds with EEA1           About GenesLikeMe



    (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 EEA1 gene: 
    NM_003566.3  

    Unigene Cluster for EEA1:

    Early endosome antigen 1
    Hs.567367  [show with all ESTs]
    Unigene Representative Sequence: NM_003566
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000322349(uc001tck.3) ENST00000418984 ENST00000549790 ENST00000547833
    ENST00000553019
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate EEA1 (see all 95):
    hsa-miR-548j hsa-miR-640 hsa-miR-300 hsa-miR-106a hsa-miR-30d hsa-miR-519a hsa-miR-342-3p hsa-miR-502-3p
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    Additional mRNA sequence: 

    AF173389.1 AK292008.1 AK307918.1 BC017837.1 BC041930.1 BX648463.1 L40157.1 X78998.1 

    5 DOTS entries:

    DT.312811  DT.100790733  DT.121114015  DT.86841244  DT.91938349 

    Selected AceView cDNA sequences (see all 163):

    AW954338 R58333 AU139787 CA435240 BU161988 H38659 BU620283 BI092315 
    CA313002 BG493301 AI918294 BE218993 BF515615 BC017837 BQ954298 BU160820 
    BE018194 BX495378 AA278514 AI815086 X78998 BF512066 CA415605 AL601466 

    GeneLoc Exon Structure


    (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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    EEA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGTTGTGCC
    EEA1 Expression
    About this image


    EEA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    EEA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EEA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567367
        Custom PCR Arrays for EEA1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EEA1

    (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 animals.

    Orthologs for EEA1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eea11 , 5 early endosome antigen 11, 5 84.53(n)1
    85.97(a)1
      10 (49.59 cM)5
    2162381  NM_001001932.31  NP_001001932.11 
     959406635 
    chicken
    (Gallus gallus)
    Aves EEA11 early endosome antigen 1 74.69(n)
    76.01(a)
      417896  XM_004937623.1  XP_004937680.1 
    lizard
    (Anolis carolinensis)
    Reptilia EEA16
    early endosome antigen 1
    72(a)
    1 ↔ 1
    5(31609326-31675026)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL857312.22   -- 78.17(n)    AL857312.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5629431 novel protein similar to H.sapiens EEA1, early endosome more 60.46(n)
    58.77(a)
      562943  XM_003200437.2  XP_003200485.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C02F12.73   -- 22(a)
    (best of 5)
      X(3719662-3723865)   --


    ENSEMBL Gene Tree for EEA1 (if available)
    TreeFam Gene Tree for EEA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EEA1 gene
    FYCO12  RUFY42  

    Find genes that share paralogs with EEA1           About GenesLikeMe



    (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 EEA1 (see all 2879)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs596753311,2
    C--93071707(+) TTTTT-/T/TTT 
            
    GAGAT
    1 -- int11NA 2
    rs170207181,2
    C,F,H--93166393(+) GTCACG/ATACTT 1 -- ut3115Minor allele frequency- A:0.07NA NS EA CSA WA 1450
    rs1832520161,2
    --93166423(+) TAATAA/CCCTTC 1 -- ut310--------
    rs1457288151,2
    --93166462(+) TTACTA/GAGCTA 1 -- ut310--------
    rs1885223461,2
    --93166467(+) GAGCTA/CACCTT 1 -- ut310--------
    rs107353041,2
    C,F,A,H--93166538(+) CCCAAG/AAACTA 1 -- ut3125Minor allele frequency- A:0.32NA NS EA WA CSA 2486
    rs1386427231,2
    --93166635(+) CTGCAC/TTGTGT 1 -- ut310--------
    rs1920093911,2
    --93166643(+) TGTTAC/TAATAA 1 -- ut310--------
    rs1827795281,2
    --93166718(+) AATTTA/CGTAAG 1 -- ut310--------
    rs1878104151,2
    --93166739(+) ATATTA/CACATC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for EEA1 (93164413 - 93323107 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for EEA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2665205CNV Deletion23128226
    nsv899438CNV Loss21882294
    nsv520865CNV Loss19592680
    esv21874CNV Loss19812545
    nsv455691CNV Gain19166990
    nsv7234OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): EEA1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EEA1
    DNA2.0 Custom Variant and Variant Library Synthesis for EEA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605070    OMIM disorders: --


    Find genes that share disorders with EEA1           About GenesLikeMe

    3 Novoseek inferred disease relationships for EEA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurological disorders 30.1 6 17113235 (1), 11122260 (1), 14962794 (1), 14728723 (1)
    wegeners granulomatosis 22 1 11122260 (1)
    tuberculosis 0 1 11581282 (1)

    Genetic Association Database (GAD): EEA1
    Human Genome Epidemiology (HuGE) Navigator: EEA1 (1 document)

    Export disorders for EEA1 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 EEA1 gene, integrated from 10 sources (see all 163):
    (articles sorted by number of sources associating them with EEA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. EEA1 links PI(3)K function to Rab5 regulation of endosome fusion. (PubMed id 9697774)1, 2, 3, 9 Simonsen A.... Stenmark H. (Nature 1998)
    2. EEA1, an early endosome-associated protein. EEA1 is a conserved alpha-helical peripheral membrane protein flanked by cysteine 'fingers' and contains a calmodulin-binding IQ motif. (PubMed id 7768953)1, 2, 3 Mu F.-T....Toh B.-H. (J. Biol. Chem. 1995)
    3. Direct interaction of EEA1 with Rab5b. (PubMed id 10491193)1, 2, 9 Callaghan J.M.... Stenmark H. (Eur. J. Biochem. 1999)
    4. The Rab5 effector EEA1 interacts directly with syntaxin-6. (PubMed id 10506127)1, 2, 9 Simonsen A.... Stenmark H. (J. Biol. Chem. 1999)
    5. Structural mechanism of endosome docking by the FYVE domain. (PubMed id 11230696)1, 2, 9 Kutateladze T.G. and Overduin M. (Science 2001)
    6. The PtdIns3P-binding protein Phafin 2 mediates epidermal growth factor receptor degradation by promoting endosome fusion. (PubMed id 22816767)1, 2 Pedersen N.M....Stenmark H. (Traffic 2012)
    7. Endosomal transport of ErbB-2: mechanism for nuclear entry of the cell surface receptor. (PubMed id 16314522)1, 2 Giri D.K.... Hung M.C. (Mol. Cell. Biol. 2005)
    8. Determinants of Rab5 interaction with the N-terminus of early endosome antigen 1. (PubMed id 12493736)1, 2 Merithew E.... Lambright D.G. (J. Biol. Chem. 2003)
    9. The small GTPase Rab22 interacts with EEA1 and controls endosomal membrane trafficking. (PubMed id 11870209)1, 2 Kauppi M.... Olkkonen V.M. (J. Cell Sci. 2002)
    10. Multivalent endosome targeting by homodimeric EEA1. (PubMed id 11741531)1, 2 Dumas J.J.... Lambright D.G. (Mol. Cell 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 8411 HGNC: 3185 AceView: EEA1 Ensembl:ENSG00000102189 euGenes: HUgn8411
    ECgene: EEA1 Kegg: 8411 H-InvDB: EEA1

    (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 EEA1 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 EEA1 gene:
    Search GeneIP for patents involving EEA1

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



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