EEA1 early endosome antigen 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EEA1provided by HGNC
Official Full Name: early endosome antigen 1provided by HGNC
Primary source: HGNC:HGNC:3185
See related: Ensembl:ENSG00000102189 MIM:605070; AllianceGenome:HGNC:3185
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MST105; ZFYVE2; MSTP105
Summary: Enables 1-phosphatidylinositol binding activity; GTP-dependent protein binding activity; and protein homodimerization activity. Involved in endocytosis and vesicle fusion. Located in cytosol and early endosome membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in esophagus (RPKM 9.9), fat (RPKM 8.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q22

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (92770637..92929295, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (92748215..92957284, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (93164413..93323071, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Here, using EGF/EGFR endocytosis as a model and confocal microscopy of fixed and live cells, we provide evidence favoring EEA1-vesicles being pre-existed vesicular compartment, that maintains its resident proteins' level and is sensitive to biosynthetic, but not endocytic pathway disturbance.
Title: Functional cycle of EEA1-positive early endosome: Direct evidence for pre-existing compartment of degradative pathway.
Rab5C and EEA1 in the early endosomal pathway, and Rab7A and lysobisphosphatidic acid in the late endosomal pathway, are important for trafficking of phosphorothioate Antisense oligonucleotides and facilitate their escape from endolysosomal compartments after Stabilin-mediated internalization.
Title: Endosomal Escape of Antisense Oligonucleotides Internalized by Stabilin Receptors Is Regulated by Rab5C and EEA1 During Endosomal Maturation.
This also suggests that this pathway is involved in EEA1-vesicles biogenesis.
Title: EEA1 CARRYING VESICLES ARE NOT AUTOPHAGOSOMES IN SERUM-DEPRIVED HeLa CELLS.
identification of allergic bronchopulmonary aspergillosis -associated variants in EEA that have functional effects on macrophage phagocytosis and phagolysosome acidification of A. fumigatus conidia.
Title: Mutations in EEA1 are associated with allergic bronchopulmonary aspergillosis and affect phagocytosis of Aspergillus fumigatus by human macrophages.
results suggest a new mechanism in which Rab5 induces a change in flexibility of EEA1, generating an entropic collapse force that pulls the captured vesicle towards the target membrane to initiate docking and membrane fusion
Title: An endosomal tether undergoes an entropic collapse to bring vesicles together.
EEA1 mobility on endosomes is decreased upon stimulation of EGF receptor endocytosis in HeLa cells
Title: Mobility of tethering factor EEA1 on endosomes is decreased upon stimulation of EGF receptor endocytosis in HeLa cells.
Under the regulation of Rab5, the fused vesicles are targeted to early endosomes and thus deliver the internalized TbetaRI to the caveolin-1 and EEA1 double-positive early endosomes (caveolin-1-positive early endosomes).
Title: Internalization of the TGF-β type I receptor into caveolin-1 and EEA1 double-positive early endosomes.
In serum-deprivated HeLa cells with low endocytic activity there two types of EEA1-vesicles: the first one carries the both EEA1 and Rab5 at high levels; the second consists of weakly decorated EEA1-vesicles that can be both Rab5-positive and -negative.
Title: [Analysis of vesicle subpopulations carrying early endosomal autoantigen EEA1].
Data indicate that early endosome antigen 1 (EEA1) is important for the small GTPase Rab31-mediated enhancement of ligand-bound EGF receptor (EGFR) endocytic trafficking.
Title: Engagement of the small GTPase Rab31 protein and its effector, early endosome antigen 1, is important for trafficking of the ligand-bound epidermal growth factor receptor from the early to the late endosome.
nuclear uptake of Abeta involves the dynamin-dependent EEA1 and TGF-beta/Smad signaling pathways.
Title: HIV-1 stimulates nuclear entry of amyloid beta via dynamin dependent EEA1 and TGF-β/Smad signaling.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 co-localizes with EEA-1 in human plasmacytoid dendritic cells	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 Env co-localizes with EEA1 in early endosomes	PubMed
Pr55(Gag)	gag	HIV-1 Gag and viral RNA co-localize with EEA1 in early endosomes	PubMed
	gag	Myristoylated Gag co-localizes with EEA1 in early endosomes	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of early endosome antigen 1 (EEA1) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed
Vpu	vpu	Expression of HIV-1 Vpu induces co-localization of tetherin with early endosome protein EEA-1 or late endosome protein LAMP-1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-X78998 (e-PCR)
- UniSTS:51720

D12S2034 (e-PCR)
- UniSTS:63783

WI-20439 (e-PCR)
- UniSTS:24142

A008T48 (e-PCR)
- UniSTS:67675

WI-17463 (e-PCR)
- UniSTS:65140

A005S12 (e-PCR)
- UniSTS:62861

G32284 (e-PCR)
- UniSTS:116881

EEA1_1735 (e-PCR)
- UniSTS:277185

G59248 (e-PCR)
- UniSTS:136421

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1-phosphatidylinositol binding	IBA Inferred from Biological aspect of Ancestor more info
enables 1-phosphatidylinositol binding	IDA Inferred from Direct Assay more info	PubMed
enables GTP-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission, postsynaptic	IEA Inferred from Electronic Annotation more info
involved_in early endosome to late endosome transport	NAS Non-traceable Author Statement more info	PubMed
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in modulation by host of viral process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle to endosome fusion	TAS Traceable Author Statement more info	PubMed
involved_in vesicle fusion	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
located_in axonal spine	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in postsynaptic early endosome	IEA Inferred from Electronic Annotation more info
located_in presynaptic endosome	IEA Inferred from Electronic Annotation more info
located_in recycling endosome	IEA Inferred from Electronic Annotation more info
part_of serine-pyruvate aminotransferase complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: early endosome antigen 1

Names: early endosome antigen 1, 162kD; early endosome-associated protein; endosome-associated protein p162; zinc finger FYVE domain-containing protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_003566.4 → NP_003557.3 early endosome antigen 1

Status: VALIDATED

Source sequence(s)

AC016136, AC021646, AC026111

Consensus CDS

CCDS31874.1

UniProtKB/Swiss-Prot

Q14221, Q15075

Related

ENSP00000317955.8, ENST00000322349.13

Conserved Domains (4) summary

COG0419
Location:74 → 650

SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

COG1196
Location:367 → 1190

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

TIGR02169
Location:1079 → 1355

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

cd15730
Location:1347 → 1409

FYVE_EEA1; FYVE domain found in early endosome antigen 1 (EEA1) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

92770637..92929295 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011538814.3 → XP_011537116.1 early endosome antigen 1 isoform X1

Conserved Domains (3) summary

cd15730
Location:1389 → 1451

FYVE_EEA1; FYVE domain found in early endosome antigen 1 (EEA1) and similar proteins

pfam01576
Location:308 → 1382

Myosin_tail_1; Myosin tail

cl19219
Location:425 → 519

DUF342; Protein of unknown function (DUF342)