Free for academic non-profit institutions. Other users need a Commercial license

Aliases for EEA1 Gene

Aliases for EEA1 Gene

  • Early Endosome Antigen 1 2 3 5
  • Zinc Finger FYVE Domain-Containing Protein 2 3 4
  • Endosome-Associated Protein P162 3 4
  • Early Endosome Antigen 1, 162kD 2 3
  • ZFYVE2 3 4
  • Early Endosome-Associated Protein 3
  • MSTP105 3
  • MST105 3

External Ids for EEA1 Gene

Previous GeneCards Identifiers for EEA1 Gene

  • GC12M092561
  • GC12M093628
  • GC12M093102
  • GC12M091671
  • GC12M091668
  • GC12M090233

Summaries for EEA1 Gene

GeneCards Summary for EEA1 Gene

EEA1 (Early Endosome Antigen 1) is a Protein Coding gene. Diseases associated with EEA1 include subacute cutaneous lupus erythematosus and cat-scratch disease. Among its related pathways are Immune System and Endocytosis. 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 for EEA1 Gene

  • Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in endosomal trafficking.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EEA1 Gene

Genomics for EEA1 Gene

Regulatory Elements for EEA1 Gene

Promoters for EEA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EEA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EEA1 Gene

Chromosome:
12
Start:
92,770,637 bp from pter
End:
92,929,331 bp from pter
Size:
158,695 bases
Orientation:
Minus strand

Genomic View for EEA1 Gene

Genes around EEA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EEA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EEA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EEA1 Gene

Proteins for EEA1 Gene

  • Protein details for EEA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15075-EEA1_HUMAN
    Recommended name:
    Early endosome antigen 1
    Protein Accession:
    Q15075
    Secondary Accessions:
    • Q14221

    Protein attributes for EEA1 Gene

    Size:
    1411 amino acids
    Molecular mass:
    162466 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for EEA1 Gene

neXtProt entry for EEA1 Gene

Proteomics data for EEA1 Gene at MOPED

Post-translational modifications for EEA1 Gene

  • Ubiquitination at Lys 58
  • Modification sites at PhosphoSitePlus

Other Protein References for EEA1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EEA1 (EEA1)

No data available for DME Specific Peptides for EEA1 Gene

Domains & Families for EEA1 Gene

Gene Families for EEA1 Gene

Protein Domains for EEA1 Gene

Suggested Antigen Peptide Sequences for EEA1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15075

UniProtKB/Swiss-Prot:

EEA1_HUMAN :
  • 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.
  • Contains 1 C2H2-type zinc finger.
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.
  • Contains 1 FYVE-type zinc finger.
genes like me logo Genes that share domains with EEA1: view

Function for EEA1 Gene

Molecular function for EEA1 Gene

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

Gene Ontology (GO) - Molecular Function for EEA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005516 calmodulin binding NAS 11741531
GO:0005545 1-phosphatidylinositol binding IDA 11256955
genes like me logo Genes that share ontologies with EEA1: view
genes like me logo Genes that share phenotypes with EEA1: view

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EEA1 Gene

Localization for EEA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EEA1 Gene

Cytoplasm. Early endosome membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EEA1 Gene COMPARTMENTS Subcellular localization image for EEA1 gene
Compartment Confidence
cytosol 5
endosome 5
extracellular 5
plasma membrane 5
nucleus 4
lysosome 3
vacuole 3
cytoskeleton 2
golgi apparatus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for EEA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 7768953
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA,IDA 11741531
GO:0016020 membrane TAS 7768953
GO:0055037 recycling endosome IEA --
genes like me logo Genes that share ontologies with EEA1: view

Pathways & Interactions for EEA1 Gene

genes like me logo Genes that share pathways with EEA1: view

SIGNOR curated interactions for EEA1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for EEA1 Gene

None

Drugs & Compounds for EEA1 Gene

(10) Drugs for EEA1 Gene - From: Novoseek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Inositol 1,3-Bisphosphate Experimental Pharma Target 0
Guanosine triphosphate Experimental Pharma 0

(6) Additional Compounds for EEA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EEA1: view

Transcripts for EEA1 Gene

Unigene Clusters for EEA1 Gene

Early endosome antigen 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EEA1 Gene

No ASD Table

Relevant External Links for EEA1 Gene

GeneLoc Exon Structure for
EEA1
ECgene alternative splicing isoforms for
EEA1

Expression for EEA1 Gene

mRNA expression in normal human tissues for EEA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EEA1 Gene

This gene is overexpressed in Spleen (6.8), Lymph node (6.7), and Bone marrow stromal cell (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EEA1 Gene



SOURCE GeneReport for Unigene cluster for EEA1 Gene Hs.567367

genes like me logo Genes that share expression patterns with EEA1: view

Protein tissue co-expression partners for EEA1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for EEA1 Gene

Orthologs for EEA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EEA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EEA1 35
  • 99.74 (n)
  • 99.65 (a)
EEA1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EEA1 35
  • 91.02 (n)
  • 91.63 (a)
EEA1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EEA1 36
  • 91 (a)
OneToOne
EEA1 35
  • 91.44 (n)
  • 91.53 (a)
mouse
(Mus musculus)
Mammalia Eea1 16
Eea1 35
  • 84.53 (n)
  • 85.97 (a)
Eea1 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EEA1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EEA1 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eea1 35
  • 84.9 (n)
  • 85.54 (a)
chicken
(Gallus gallus)
Aves EEA1 35
  • 74.69 (n)
  • 76.01 (a)
EEA1 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EEA1 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eea1 35
  • 67.29 (n)
  • 66.52 (a)
zebrafish
(Danio rerio)
Actinopterygii eea1 36
  • 58 (a)
OneToOne
LOC562943 35
  • 60.46 (n)
  • 58.77 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3493 37
  • 20 (a)
worm
(Caenorhabditis elegans)
Secernentea C02F12.7 37
  • 22 (a)
hcp-2 37
  • 20 (a)
R07G3.3a 37
  • 20 (a)
R07G3.3b 37
  • 20 (a)
T10G3.5 37
  • 21 (a)
eea-1 36
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 21 (a)
OneToOne
Species with no ortholog for EEA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EEA1 Gene

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

Paralogs for EEA1 Gene

Paralogs for EEA1 Gene

genes like me logo Genes that share paralogs with EEA1: view

Variants for EEA1 Gene

Sequence variations from dbSNP and Humsavar for EEA1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs10745623 - 92,802,646(+) GATTT(G/T)TTTTT reference, missense
rs731799 -- 92,858,127(+) AAGGG(A/C)ACATT intron-variant
rs1042781 -- 92,819,476(-) GGCGA(A/T)AAGGA reference, missense
rs924327 -- 92,854,954(+) TTCTC(C/T)CCCTT intron-variant
rs924328 -- 92,857,732(+) ACTGT(C/T)AAGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EEA1 Gene

Variant ID Type Subtype PubMed ID
nsv7234 OTHER Inversion 18451855
nsv455691 CNV Gain 19166990
nsv899438 CNV Loss 21882294
nsv520865 CNV Loss 19592680
esv21874 CNV Loss 19812545
esv2665205 CNV Deletion 23128226

Variation tolerance for EEA1 Gene

Residual Variation Intolerance Score: 14.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.98; 60.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EEA1 Gene

HapMap Linkage Disequilibrium report
EEA1
Human Gene Mutation Database (HGMD)
EEA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EEA1 Gene

Disorders for EEA1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for EEA1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
subacute cutaneous lupus erythematosus
  • lupus erythematosus, subacute cutaneous
cat-scratch disease
  • benign lymphoreticulosis
spinocerebellar ataxia 14
  • spinocerebellar ataxia type 14
bartonellosis
  • bartonella infectious disease
cutaneous lupus erythematosus
  • lupus erythematosus, cutaneous
- elite association - COSMIC cancer census association via MalaCards
Search EEA1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EEA1

Genetic Association Database (GAD)
EEA1
Human Genome Epidemiology (HuGE) Navigator
EEA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EEA1
genes like me logo Genes that share disorders with EEA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EEA1 Gene

Publications for EEA1 Gene

  1. EEA1 links PI(3)K function to Rab5 regulation of endosome fusion. (PMID: 9697774) Simonsen A. … Stenmark H. (Nature 1998) 2 3 4 23 67
  2. Cloning and subcellular localization of a human phosphatidylinositol 3-phosphate 5-kinase, PIKfyve/Fab1. (PMID: 16448788) Cabezas A. … Stenmark H. (Gene 2006) 3 23
  3. Human autoantibodies against early endosome antigen-1 enhance excitatory synaptic transmission. (PMID: 17113235) Selak S. … Lerma J. (Neuroscience 2006) 3 23
  4. Phosphorylation of EEA1 by p38 MAP kinase regulates mu opioid receptor endocytosis. (PMID: 16138080) MacAc G. … Nebreda A.R. (EMBO J. 2005) 3 23
  5. Investigation of the binding geometry of a peripheral membrane protein. (PMID: 16331966) Brunecky R. … Kutateladze T.G. (Biochemistry 2005) 3 23

Products for EEA1 Gene

Sources for EEA1 Gene

Back to Top

Content