EPN3 epsin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EPN3provided by HGNC
Official Full Name: epsin 3provided by HGNC
Primary source: HGNC:HGNC:18235
See related: Ensembl:ENSG00000049283 MIM:607264; AllianceGenome:HGNC:18235
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
Summary: Predicted to enable clathrin binding activity and phospholipid binding activity. Predicted to be involved in endocytosis. Located in clathrin-coated vesicle; nucleoplasm; and perinuclear region of cytoplasm. Is extrinsic component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in stomach (RPKM 11.8), esophagus (RPKM 7.2) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.33

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (50532735..50543750)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (51399907..51410883)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (48610096..48621111)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Expression of Epsin3 and its interaction with Notch signalling in oral epithelial dysplasia and oral squamous cell carcinoma.
Title: Expression of Epsin3 and its interaction with Notch signalling in oral epithelial dysplasia and oral squamous cell carcinoma.
EPN3 plays oncogenic role in non-small cell lung cancer by activating the JAK1/2-STAT3 pathway.
Title: EPN3 plays oncogenic role in non-small cell lung cancer by activating the JAK1/2-STAT3 pathway.
These results suggested that EPN3 enhances the migration and invasion of glioblastoma cells by activating the transcription factors Slug, Twist and ZEB1, but not Snail 1 or ZEB2, to induce EMT in glioma cells; EPN3 involvement in the Notch and WNT/betacatenin signaling pathways may contribute to this process.
Title: Overexpression of Epsin 3 enhances migration and invasion of glioma cells by inducing epithelial‑mesenchymal transition.
High expression of epsin (EPN3) was associated with increased risk of late metastasis.
Title: Epsin Family Member 3 and Ribosome-Related Genes Are Associated with Late Metastasis in Estrogen Receptor-Positive Breast Cancer and Long-Term Survival in Non-Small Cell Lung Cancer Using a Genome-Wide Identification and Validation Strategy.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-104919 (e-PCR)
- UniSTS:169014

RH103878 (e-PCR)
- UniSTS:98203

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables EH domain binding	IEA Inferred from Electronic Annotation more info
enables clathrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of clathrin vesicle coat	IBA Inferred from Biological aspect of Ancestor more info
located_in clathrin-coated pit	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: epsin-3

Names: EPS-15-interacting protein 3

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_017957.3 → NP_060427.2 epsin-3

See identical proteins and their annotated locations for NP_060427.2

Status: VALIDATED

Source sequence(s)

AF324241, AK000785, BM981734, BU539570, CA944655, DA392550, DC388544

Consensus CDS

CCDS11570.1

UniProtKB/Swiss-Prot

A8K6J3, A8KAB2, Q9BVN6, Q9H201, Q9NWK2

UniProtKB/TrEMBL

B4DK18

Related

ENSP00000268933.3, ENST00000268933.8

Conserved Domains (3) summary

smart00726
Location:209 → 228

UIM; Ubiquitin-interacting motif

cd03571
Location:19 → 141

ENTH_epsin; ENTH domain, Epsin family; The epsin (Eps15 interactor) N-terminal homology (ENTH) domain is an evolutionarily conserved protein module found primarily in proteins that participate in clathrin-mediated endocytosis. A set of proteins previously designated ...

pfam02809
Location:236 → 252

UIM; Ubiquitin interaction motif