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

EEA1 Gene

protein-coding   GIFtS: 61
GCID: GC12M093102

early endosome antigen 1

(Previous names: early endosome antigen 1, 162kD )
 Explore 19 diseases affiliated with
EEA1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for EEA1    

Aliases
for EEA1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Early Endosome Antigen 11 2     Zinc Finger FYVE Domain-Containing Protein 22 3
ZFYVE21 2 3     MST1052
Early Endosome Antigen 1, 162kD1 2     MSTP1052
Endosome-Associated Protein P1622 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


Summaries
for EEA1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: EEA1_HUMAN, Q15075
Function: Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in endosomal
trafficking




Genomic Views
for EEA1 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_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences 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 plasmid: EEA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for EEA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for EEA1 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: 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
Subcellular location: Cytoplasm. Early endosome membrane; Peripheral membrane protein
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15075

    • EEA1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003557.2  
    ENSEMBL proteins: 
     ENSP00000317955   ENSP00000394312   ENSP00000446785   ENSP00000449682  

    Human Recombinant Protein Products: 
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    Novus Biologicals EEA1 Protein
    Novus Biologicals EEA1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for EEA1

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005737cytoplasm IDA--
    GO:0005768endosome ----
    GO:0005769early endosome IDA19535332
    GO:0005829cytosol IDA7768953


    EEA1 for ontologies           About GeneDecksing



    EEA1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of EEA1
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    Novus Biologicals EEA1 Antibodies
    Abcam antibodies for EEA1 
    Uscn Antibodies for EEA1
    ThermoFisher Antibodies for EEA1

    Assay Products for EEA1: 
    Browse Kits and Assays available from EMD Millipore
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    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for EEA1
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    Uscn ELISAs and CLIAs for EEA1

    Protein Domains /
    Families
    for EEA1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    EEA1 for domains           About GeneDecksing

    5/6 InterPro domains/families (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 family: 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


    Function
    for EEA1 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: EEA1_HUMAN, Q15075
    Function: Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in endosomal
    trafficking

    miRNA
    Products:            		 OriGene 3'-UTR Clone: EEA1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EEA1
    8/95 QIAGEN miScript miRNA 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 plasmid: EEA1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EEA1 (see all 7)
    OriGene shRNA RFP: EEA1
    OriGene siRNA: EEA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EEA1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for EEA1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EEA1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EEA1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    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 

    Cell Line
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    Search LifeMap BioReagents cell lines for EEA1

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

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16314522
    GO:0005516calmodulin binding NAS11741531
    GO:00055451-phosphatidylinositol binding IDA11256955
    GO:0008270zinc ion binding TAS11741531
    GO:0030742GTP-dependent protein binding IDA10491193


    EEA1 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for EEA1 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 - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Normal wtCFTR traffic / Sorting endosome formation
    		Normal wtCFTR traffic / Sorting endosome formation1.00
    		Delta508-CFTR traffic / Sorting endosome formation in CF0.77
    2Clathrin-dependent protein traffic
    		Clathrin-dependent protein traffic1.00
    		Transport_Clathrin-coated vesicle cycle0.66
    3Cytoskeletal Signaling
    		Cytoskeletal Signaling1.00
    4Tuberculosis
    		Tuberculosis1.00
    5Endocytosis
    		Endocytosis1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for EEA1
        Clathrin-dependent protein traffic


    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


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


    EEA1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EEA1

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

    5/48 Interacting proteins for EEA1 (Q150751, 2, 3 ENSP000003179554) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    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 (GO ID links to tree view):    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


    EEA1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for EEA1 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

    EEA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    10/14 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about EEA1 

    Transcripts
    for EEA1 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 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
    Products:             		 OriGene 3'-UTR Clone: EEA1
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EEA1
    8/95 QIAGEN miScript miRNA 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 plasmid: EEA1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EEA1 (see all 7)
    OriGene shRNA RFP: EEA1
    OriGene siRNA: EEA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EEA1
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EEA1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EEA1

    Additional cDNA 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 

    24/163 AceView cDNA sequences (see all 163):

    X78998 BF512066 AI815086 BU160820 BU161988 BQ954298 BG493301 AU139787 
    BF515615 AI918294 H38659 BI092315 AA278514 BC017837 BE218993 AW954338 
    BE018194 CA435240 CA313002 BX495378 BU620283 R58333 NM_003566 AL601466 

    GeneLoc Exon Structure


    Expression
    for EEA1 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

    EEA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAGTTGTGCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See EEA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EEA1

    SOURCE GeneReport for Unigene cluster: Hs.567367
        SABiosciences Custom PCR Arrays for EEA1
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EEA1

    Orthologs
    for EEA1 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 EEA1 gene from 9/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves EEA11 early endosome antigen 1 74.69(n)
    76.01(a)    		   417896  XM_416138.3  XP_416138.3 
    lizard
    (Anolis carolinensis)    		 Reptilia EEA16
    		 --
    		 74(a)
    		 1 ↔ 1
    		 5(31615367-31675026)
    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)
    58.63(a)    		   562943  XM_003200437.1  XP_003200485.1 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 9(a)
    		 possible ortholog
    		 Group8.17(54593-62455)
    worm
    (Caenorhabditis elegans)    		 Secernentea C02F12.73
    eea-11    		 Protein EEA-11 22(a)
    (best of 5)3
    44.99(n)1
    29.11(a)1    		   X(3719662-3723865)3
    1798321  NM_001028956.21  NP_001024127.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes USO11 Uso1p 42.72(n)
    26.14(a)    		   851501   NP_010225.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons CIP16
    AT1G053206
    (see all 4)    		 uncharacterized protein
    (see all 4)    		 8(a)
    12(a)
    (see all 4)    		 possible ortholog
    possible ortholog
    (see all 4)    		 5(16727530-16732847)
    1(1553603-1557733)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 retrotransposon protein, putative, unclassified, e...
    		 9(a)
    		 possible ortholog
    		 4(31002238-31010796)


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

    Paralogs
    for EEA1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EEA1 gene
    GOLGA42  GCC22  CEP2502  AKAP92  PCNT2  LOC7287632  CROCC2  NUMA12  
    TRIP112  CENPF2  CNTRL2  GOLGB12  

    EEA1 for paralogs           About GeneDecksing



    Genomic Variants
    for EEA1 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

    10/2372 NCBI SNPs in EEA1 are shown (see all 2372)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1909002141,2
    		--93165989(+) TCATCG/TGGGTA 2 -- ds5001 int10--------
    rs1823349251,2
    		--93166154(+) ATTGAA/GCAACA 2 -- ds5001 int10--------
    rs170207151,2
    		C,F,--93166189(+) AGTGCA/TAAGTC 2 -- ds5001 int15Minor allele frequency- T:0.05NA CSA WA 262
    rs1858999051,2
    		--93166271(+) TATAGC/TCACAG 2 -- ds5001 int10--------
    rs1913819611,2
    		--93166285(+) ACAACC/TAGTTT 2 -- ds5001 ut310--------
    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

    HapMap Linkage Disequilibrium report for EEA1 (93164413 - 93323107 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for EEA1
         1 CNV: 49154
         1 Indel: 66299

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    Disorders / Diseases
    for EEA1 gene

    (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.)
    About This Section
    EEA1 for disorders           About GeneDecksing

    OMIM gene information: 605070    OMIM disorders: --

    19 diseases for EEA1:    About MalaCards
    cat-scratch disease    wegener's granulomatosis    connective tissue disease    lateral sclerosis
    cystic fibrosis    hemochromatosis    neurologic diseases    stomatitis
    sinusitis    fibrosis    tuberculosis    melanoma
    prostate cancer    cholesterol    prostatitis    hepatitis
    neuronitis    mycobacterium tuberculosis    alcoholism

    3 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: EEA1 (1 document)

    Export disorders for EEA1 gene to outside databases

    Publications
    for EEA1 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 EEA1 gene, integrated from 9 sources (see all 157):
    (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. (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. (1995)
    3. Direct interaction of EEA1 with Rab5b. (PubMed id 10491193)1, 2, 9 Callaghan J.M.... Stenmark H. (1999)
    4. The Rab5 effector EEA1 interacts directly with syntaxin-6. (PubMed id 10506127)1, 2, 9 Simonsen A.... Stenmark H. (1999)
    5. Structural mechanism of endosome docking by the FYVE domain. (PubMed id 11230696)1, 2, 9 Kutateladze T.G. and Overduin M. (2001)
    6. 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. (2005)
    7. Determinants of Rab5 interaction with the N-terminus of early endosome antigen 1. (PubMed id 12493736)1, 2 Merithew E.... Lambright D.G. (2003)
    8. The small GTPase Rab22 interacts with EEA1 and controls endosomal membrane trafficking. (PubMed id 11870209)1, 2 Kauppi M.... Olkkonen V.M. (2002)
    9. Multivalent endosome targeting by homodimeric EEA1. (PubMed id 11741531)1, 2 Dumas J.J.... Lambright D.G. (2001)
    10. Interaction of the EEA1 FYVE finger with phosphatidylinositol 3- phosphate and early endosomes. Role of conserved residues. (PubMed id 10807926)1, 2 Gaullier J.-M.... Stenmark H. (2000)

    External Searches for EEA1 gene

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

    Genome Databases showing EEA1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8411 HGNC: 3185 AceView: EEA1 Ensembl:ENSG00000102189 euGenes: HUgn8411
    ECgene: EEA1 Kegg: 8411 H-InvDB: EEA1

    Other Databases showing EEA1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing EEA1 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 EEA1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for EEA1 gene

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