Aliases for EEA1 Gene

Aliases for EEA1 Gene

  • Early Endosome Antigen 1 2 3 4 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 Pontocerebellar Hypoplasia, Type 3. Among its related pathways are Phagosome and Delta508-CFTR traffic / Sorting endosome formation in CF. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and 1-phosphatidylinositol binding.

UniProtKB/Swiss-Prot Summary for EEA1 Gene

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

Additional gene information for EEA1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EEA1 Gene

Genomics for EEA1 Gene

GeneHancer (GH) Regulatory Elements for EEA1 Gene

Promoters and enhancers for EEA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EEA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EEA1 gene promoter:
  • AML1a
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • Nkx6-1

Genomic Locations for EEA1 Gene

Genomic Locations for EEA1 Gene
chr12:92,770,637-92,929,331
(GRCh38/hg38)
Size:
158,695 bases
Orientation:
Minus strand
chr12:93,164,413-93,323,107
(GRCh37/hg19)
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. Interacts with SAMD9 AND SAMD9L (PubMed:24029230). 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

Post-translational modifications for EEA1 Gene

  • Ubiquitination at Lys58
  • Modification sites at PhosphoSitePlus

Other Protein References for EEA1 Gene

Antibody Products

  • Abcam antibodies for EEA1

No data available for DME Specific Peptides for EEA1 Gene

Domains & Families for EEA1 Gene

Gene Families for EEA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for EEA1 Gene

Suggested Antigen Peptide Sequences for EEA1 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger FYVE domain-containing protein 2 (EEA1_HUMAN)
  • EEA1 protein (Q05D76_HUMAN)
  • MSTP105 (Q7Z4D4_HUMAN)

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.
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.
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.

Phenotypes From GWAS Catalog for EEA1 Gene

Gene Ontology (GO) - Molecular Function for EEA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0005515 protein binding IPI 9697774
GO:0005516 calmodulin binding NAS 11741531
GO:0005545 1-phosphatidylinositol binding IDA,TAS 11256955
GO:0008270 zinc ion binding TAS 11741531
genes like me logo Genes that share ontologies with EEA1: view
genes like me logo Genes that share phenotypes with EEA1: view

Animal Models for EEA1 Gene

MGI Knock Outs for EEA1:
  • Eea1 Eea1<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for EEA1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EEA1 gene
Compartment Confidence
plasma membrane 5
endosome 5
cytosol 5
nucleus 4
lysosome 3
golgi apparatus 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

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:0005829 cytosol IDA 7768953
GO:0005969 serine-pyruvate aminotransferase complex 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

Pathways by source for EEA1 Gene

SIGNOR curated interactions for EEA1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for EEA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IMP 21081650
GO:0006906 vesicle fusion IMP 9697774
GO:0016189 synaptic vesicle to endosome fusion TAS 11741531
GO:0039694 viral RNA genome replication IMP 19376974
GO:0045022 early endosome to late endosome transport NAS 7768953
genes like me logo Genes that share ontologies with EEA1: view

Drugs & Compounds for EEA1 Gene

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

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

(5) 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

mRNA/cDNA for EEA1 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for EEA1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for EEA1 Gene



Protein tissue co-expression partners for EEA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EEA1 Gene:

EEA1

SOURCE GeneReport for Unigene cluster for EEA1 Gene:

Hs.567367

Evidence on tissue expression from TISSUES for EEA1 Gene

  • Liver(4.8)
  • Eye(3.4)
  • Heart(3.1)
  • Pancreas(3)
  • Blood(2.8)
  • Adrenal gland(2.7)
  • Nervous system(2.7)
  • Intestine(2.6)
  • Kidney(2.6)
  • Lung(2.3)
  • Spleen(2.3)
genes like me logo Genes that share expression patterns with EEA1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 32
  • 99.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EEA1 33 32
  • 91.44 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EEA1 33 32
  • 91.02 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eea1 32
  • 84.9 (n)
mouse
(Mus musculus)
Mammalia Eea1 17 33 32
  • 84.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EEA1 33
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EEA1 33
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves EEA1 33 32
  • 74.69 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EEA1 33
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eea1 32
  • 67.29 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC562943 32
  • 60.46 (n)
eea1 33
  • 58 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3493 34
  • 20 (a)
worm
(Caenorhabditis elegans)
Secernentea C02F12.7 34
  • 22 (a)
eea-1 33
  • 21 (a)
OneToOne
T10G3.5 34
  • 21 (a)
R07G3.3a 34
  • 20 (a)
hcp-2 34
  • 20 (a)
R07G3.3b 34
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 21 (a)
OneToOne
Species where no ortholog for EEA1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EEA1: view image

Paralogs for EEA1 Gene

No data available for Paralogs for EEA1 Gene

Variants for EEA1 Gene

Sequence variations from dbSNP and Humsavar for EEA1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs118081497 benign, not specified 92,782,070(-) A/T coding_sequence_variant, missense_variant
rs1000041492 -- 92,854,101(-) T/C intron_variant
rs1000067549 -- 92,944,453(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000104186 -- 92,803,939(-) A/G intron_variant
rs1000121938 -- 92,896,739(-) T/C/G intron_variant

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

Variant ID Type Subtype PubMed ID
dgv2787n54 CNV gain 21841781
dgv498e212 CNV gain 25503493
esv21874 CNV loss 19812545
esv2665205 CNV deletion 23128226
esv3630387 CNV loss 21293372
nsv1118241 CNV deletion 24896259
nsv1134247 CNV deletion 24896259
nsv1139574 CNV duplication 24896259
nsv1153958 CNV duplication 26484159
nsv455691 CNV gain 19166990
nsv473456 CNV novel sequence insertion 20440878
nsv475099 CNV novel sequence insertion 20440878
nsv520865 CNV loss 19592680
nsv559764 CNV loss 21841781
nsv7234 OTHER inversion 18451855
nsv975521 CNV duplication 23825009
nsv983352 CNV duplication 23825009

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)

Additional Variant Information for EEA1 Gene

Human Gene Mutation Database (HGMD)
EEA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EEA1

SNP Genotyping and Copy Number Assay Products

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

Disorders for EEA1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for EEA1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
subacute cutaneous lupus erythematosus
  • lupus erythematosus cutaneous subacute
pontocerebellar hypoplasia, type 3
  • pch3
cat-scratch disease
  • oroya fever
spinocerebellar ataxia 14
  • sca14
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

Additional Disease Information for EEA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 56
  2. Structural mechanism of endosome docking by the FYVE domain. (PMID: 11230696) Kutateladze T … Overduin M (Science (New York, N.Y.) 2001) 3 4 23 56
  3. The Rab5 effector EEA1 interacts directly with syntaxin-6. (PMID: 10506127) Simonsen A … Stenmark H (The Journal of biological chemistry 1999) 3 4 23 56
  4. Direct interaction of EEA1 with Rab5b. (PMID: 10491193) Callaghan J … Stenmark H (European journal of biochemistry 1999) 3 4 23 56
  5. 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. (PMID: 7768953) Mu FT … Toh BH (The Journal of biological chemistry 1995) 2 3 4 56

Products for EEA1 Gene

Sources for EEA1 Gene