EPN1 epsin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EPN1provided by HGNC
Official Full Name: epsin 1provided by HGNC
Primary source: HGNC:HGNC:21604
See related: Ensembl:ENSG00000063245 MIM:607262; AllianceGenome:HGNC:21604
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes a member of the epsin protein family. The encoded protein binds clathrin and is involved in the endocytosis of clathrin-coated vesicles. Loss of function of this gene is associated with reduced tumor growth and progression in certain cancer types. [provided by RefSeq, Mar 2016]
Expression: Ubiquitous expression in duodenum (RPKM 31.4), stomach (RPKM 31.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.42

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (55675226..55709533)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (58772202..58806505)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (56186592..56220899)

Chromosome 19 - NC_000019.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cooperativity of membrane-protein and protein-protein interactions control membrane remodeling by epsin 1 and affects clathrin-mediated endocytosis.
Title: Cooperativity of membrane-protein and protein-protein interactions control membrane remodeling by epsin 1 and affects clathrin-mediated endocytosis.
Membrane-proximal domains ENTH of epsin domain can form a stable hexameric core in presence of phosphatidylinositol 4,5-bisphosphate (PIP2).
Title: Epsin and Sla2 form assemblies through phospholipid interfaces.
Data indicate that clathrin-mediated endocytosis of proto-oncogene protein erbB-3 (ErbB3) is depending on epsin-1.
Title: Interaction with epsin 1 regulates the constitutive clathrin-dependent internalization of ErbB3.
intrinsically disordered domains are highly potent drivers of membrane curvature
Title: Intrinsically disordered proteins drive membrane curvature.
Epsins are required for Dishevelled stability and Wnt signalling activation in colon cancer development.
Title: Epsin is required for Dishevelled stability and Wnt signalling activation in colon cancer development.
AP-2 and epsin-1 are both required to promote efficient internalization of activated PAR1 and recognize discrete receptor sorting signals
Title: Adaptor protein complex-2 (AP-2) and epsin-1 mediate protease-activated receptor-1 internalization via phosphorylation- and ubiquitination-dependent sorting signals.
Results show that epsin 1, an endocytic adapter protein, regulates mitotic membrane morphology and spindle integrity in HeLa cells.
Title: A requirement for epsin in mitotic membrane and spindle organization.
epsin 1 promotes endocytosis of the ubiquitinated EGF receptor
Title: Epsin 1 is involved in recruitment of ubiquitinated EGF receptors into clathrin-coated pits.
Together, these data provide evidence that CHIP functions to ubiquitylate the endocytic protein Epsin.
Title: The U-box ligase carboxyl-terminus of Hsc 70-interacting protein ubiquitylates Epsin.
An epsin 1 helix is inserted into one leaflet of the lipid bilayer, inducing curvature; on lipid monolayers epsin alone is sufficient to facilitate the formation of clathrin-coated invaginations
Title: Curvature of clathrin-coated pits driven by epsin.

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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

EBI GWAS Catalog

Description
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

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 transmembrane glycoprotein gp41	env	A synthetic peptide containing the Epsin-1-(470-499) sequence could effectively block entry of HIV-1 virions into SupT1 T cells via the endocytosis pathway	PubMed
	env	Amino acids 470-499 in Epsin-1 are required for its binding to the gp41 core formed by the polypeptide N36(L8)C34 and interact with recombinant soluble gp41 containing the core structure	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables clathrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables molecular sequestering activity	EXP Inferred from Experiment more info	PubMed
enables molecular sequestering activity	IPI Inferred from Physical Interaction more info	PubMed
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 Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in embryonic organ development	IEA Inferred from Electronic Annotation more info
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in female pregnancy	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of sprouting angiogenesis	IGI Inferred from Genetic Interaction more info	PubMed

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 cytosol	TAS Traceable Author Statement more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: epsin-1

Names: EH domain-binding mitotic phosphoprotein; EPS-15-interacting protein 1

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_001130071.2 → NP_001123543.1 epsin-1 isoform a

See identical proteins and their annotated locations for NP_001123543.1

Status: REVIEWED

Source sequence(s)

AC008749, AC010525, AF073727, BC044651, BU634413

Consensus CDS

CCDS46198.1

UniProtKB/Swiss-Prot

Q9Y6I3

Related

ENSP00000406209.1, ENST00000411543.6

Conserved Domains (3) summary

cd03571
Location:130 → 252

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 ...

pfam04871
Location:235 → 347

Uso1_p115_C; Uso1 / p115 like vesicle tethering protein, C terminal region

cl00427
Location:378 → 413

TM_PBP2; Transmembrane subunit (TM) found in Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which generally bind type 2 PBPs. These types of transporters consist of a PBP, two TMs, and two cytoplasmic ABC ATPase subunits, and ...
NM_001130072.2 → NP_001123544.1 epsin-1 isoform b

See identical proteins and their annotated locations for NP_001123544.1

Status: REVIEWED

Source sequence(s)

AC008735, AC008749, AC010525

Consensus CDS

CCDS46199.1

UniProtKB/Swiss-Prot

Q86ST3, Q9HA18, Q9Y6I3

UniProtKB/TrEMBL

B4DU91

Related

ENSP00000270460.6, ENST00000270460.11

Conserved Domains (2) summary

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 ...

cl00427
Location:292 → 327

TM_PBP2; Transmembrane subunit (TM) found in Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which generally bind type 2 PBPs. These types of transporters consist of a PBP, two TMs, and two cytoplasmic ABC ATPase subunits, and ...
NM_001321263.2 → NP_001308192.1 epsin-1 isoform d

Status: REVIEWED

Source sequence(s)

AC008735, AC008749, AC010525

UniProtKB/TrEMBL

B4DU91

Conserved Domains (2) summary

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 ...

cl00427
Location:292 → 327

TM_PBP2; Transmembrane subunit (TM) found in Periplasmic Binding Protein (PBP)-dependent ATP-Binding Cassette (ABC) transporters which generally bind type 2 PBPs. These types of transporters consist of a PBP, two TMs, and two cytoplasmic ABC ATPase subunits, and ...
NM_013333.4 → NP_037465.2 epsin-1 isoform c

See identical proteins and their annotated locations for NP_037465.2

Status: REVIEWED

Source sequence(s)

AC008749, AC010525, BC044651, BU634413, DA657018

Consensus CDS

CCDS46200.1

UniProtKB/TrEMBL

B4DU91

Related

ENSP00000085079.6, ENST00000085079.11

Conserved Domains (2) summary

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 ...

cl26386
Location:240 → 428

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III