Human Gene EEA1 (ENST00000322349.13) from GENCODE V44
  Description: Homo sapiens early endosome antigen 1 (EEA1), mRNA. (from RefSeq NM_003566)
Gencode Transcript: ENST00000322349.13
Gencode Gene: ENSG00000102189.17
Transcript (Including UTRs)
   Position: hg38 chr12:92,770,637-92,929,295 Size: 158,659 Total Exon Count: 29 Strand: -
Coding Region
   Position: hg38 chr12:92,776,011-92,929,066 Size: 153,056 Coding Exon Count: 29 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:92,770,637-92,929,295)mRNA (may differ from genome)Protein (1411 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
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-  Comments and Description Text from UniProtKB
  ID: EEA1_HUMAN
DESCRIPTION: RecName: Full=Early endosome antigen 1; AltName: Full=Endosome-associated protein p162; AltName: Full=Zinc finger FYVE domain-containing protein 2;
FUNCTION: Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in endosomal trafficking.
SUBUNIT: Homodimer. Binds STX6. Binds RAB5A, RAB5B, RAB5C and RAB22A that have been activated by GTP-binding. Interacts with ERBB2.
INTERACTION: P04626:ERBB2; NbExp=5; IntAct=EBI-298113, EBI-641062; Q9UL26:RAB22A; NbExp=3; IntAct=EBI-298113, EBI-399456; P20339:RAB5A; NbExp=3; IntAct=EBI-298113, EBI-399437; P61020:RAB5B; NbExp=3; IntAct=EBI-298113, EBI-399401; Q63635:Stx6 (xeno); NbExp=4; IntAct=EBI-298113, EBI-398854;
SUBCELLULAR LOCATION: Cytoplasm. Early endosome membrane; Peripheral membrane protein.
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.
MISCELLANEOUS: Antibodies against EEA1 are found in sera from patients with subacute cutaneous lupus erythematosus and other autoimmune diseases.
SIMILARITY: Contains 1 C2H2-type zinc finger.
SIMILARITY: Contains 1 FYVE-type zinc finger.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EEA1
Diseases sorted by gene-association score: subacute cutaneous lupus erythematosus (13), cat-scratch disease (9), spinocerebellar ataxia 14 (9), bartonellosis (8), cutaneous lupus erythematosus (7), foodborne botulism (6), infant botulism (6), charcot-marie-tooth disease, type 4d (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.77 RPKM in Cells - Cultured fibroblasts
Total median expression: 141.80 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -99.40229-0.434 Picture PostScript Text
3' UTR -1098.905374-0.204 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR000306 - Znf_FYVE
IPR017455 - Znf_FYVE-rel
IPR011011 - Znf_FYVE_PHD
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF01363 - FYVE zinc finger

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1HYI - NMR MuPIT 1HYJ - NMR MuPIT 1JOC - X-ray MuPIT 3MJH - X-ray


ModBase Predicted Comparative 3D Structure on Q15075
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein SequenceProtein Sequence Protein Sequence 
AlignmentAlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005545 1-phosphatidylinositol binding
GO:0008270 zinc ion binding
GO:0030742 GTP-dependent protein binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding

Biological Process:
GO:0006897 endocytosis
GO:0006906 vesicle fusion
GO:0016189 synaptic vesicle to endosome fusion
GO:0039694 viral RNA genome replication
GO:0045022 early endosome to late endosome transport

Cellular Component:
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005769 early endosome
GO:0005829 cytosol
GO:0005969 serine-pyruvate aminotransferase complex
GO:0016020 membrane
GO:0019897 extrinsic component of plasma membrane
GO:0031410 cytoplasmic vesicle
GO:0031901 early endosome membrane
GO:0044308 axonal spine
GO:0045202 synapse
GO:0055037 recycling endosome
GO:0070062 extracellular exosome
GO:0098793 presynapse


-  Descriptions from all associated GenBank mRNAs
  L40157 - Human endosome-associated protein (EEA1) mRNA, complete cds.
X78998 - H.sapiens p162 mRNA.
BC172504 - Synthetic construct Homo sapiens clone IMAGE:100069198, MGC:199209 early endosome antigen 1 (EEA1) mRNA, encodes complete protein.
BC156545 - Synthetic construct Homo sapiens clone IMAGE:100063241, MGC:190721 early endosome antigen 1 (EEA1) mRNA, encodes complete protein.
BC041930 - Homo sapiens cDNA clone IMAGE:5300538.
BX648463 - Homo sapiens mRNA; cDNA DKFZp686O14119 (from clone DKFZp686O14119).
AF173389 - Homo sapiens MSTP105 (MST105) mRNA, complete cds.
JD032251 - Sequence 13275 from Patent EP1572962.
JD027147 - Sequence 8171 from Patent EP1572962.
JD060895 - Sequence 41919 from Patent EP1572962.
JD191665 - Sequence 172689 from Patent EP1572962.
AK307918 - Homo sapiens cDNA, FLJ97866.
AK292008 - Homo sapiens cDNA FLJ75535 partial cds, highly similar to Homo sapiens early endosome antigen 1, 162kD (EEA1), mRNA.
BC017837 - Homo sapiens early endosome antigen 1, mRNA (cDNA clone IMAGE:4270936), partial cds.
JD320448 - Sequence 301472 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04144 - Endocytosis

BioCarta from NCI Cancer Genome Anatomy Project
h_ptdinsPathway - Phosphoinositides and their downstream targets.
h_eea1Pathway - The role of FYVE-finger proteins in vesicle transport

-  Other Names for This Gene
  Alternate Gene Symbols: EEA1_HUMAN, ENST00000322349.1, ENST00000322349.10, ENST00000322349.11, ENST00000322349.12, ENST00000322349.2, ENST00000322349.3, ENST00000322349.4, ENST00000322349.5, ENST00000322349.6, ENST00000322349.7, ENST00000322349.8, ENST00000322349.9, NM_003566, Q14221, Q15075, uc001tck.1, uc001tck.2, uc001tck.3, uc001tck.4, uc001tck.5, ZFYVE2
UCSC ID: ENST00000322349.13
RefSeq Accession: NM_003566
Protein: Q15075 (aka EEA1_HUMAN)
CCDS: CCDS31874.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.