Epn3 epsin 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Epn3provided by MGI
Official Full Name: epsin 3provided by MGI
Primary source: MGI:MGI:1919139
See related: Ensembl:ENSMUSG00000010080 AllianceGenome:MGI:1919139
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 2310022G12Rik
Summary: Enables EH domain binding activity. Predicted to be involved in endocytosis. Located in clathrin-coated pit. Is expressed in several structures, including alimentary system; brain; eye; genitourinary system; and respiratory system. Orthologous to human EPN3 (epsin 3). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in stomach adult (RPKM 51.8), lung adult (RPKM 22.0) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 58.9 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (94380425..94390800, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (94489599..94499974, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epsin deficiency impairs endocytosis by stalling the actin-dependent invagination of endocytic clathrin-coated pits.
Title: Epsin deficiency impairs endocytosis by stalling the actin-dependent invagination of endocytic clathrin-coated pits.
data suggest that epsin 3 cooperates with other bilayer binding proteins with curvature sensing/generating properties in the specialized traffic and membrane remodeling processes typical of gastric parietal cells
Title: Selective high-level expression of epsin 3 in gastric parietal cells, where it is localized at endocytic sites of apical canaliculi.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables EH domain binding	IDA Inferred from Direct Assay more info	PubMed
enables clathrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info

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

Component	Evidence Code	Pubs
located_in cell cortex	IEA Inferred from Electronic Annotation more info
part_of clathrin vesicle coat	IBA Inferred from Biological aspect of Ancestor more info
located_in clathrin-coated pit	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated vesicle	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated vesicle	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic side of plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
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_001361558.1 → NP_001348487.1 epsin-3 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AL645809

UniProtKB/TrEMBL

Q3TZ84

Conserved Domains (3) summary

smart00726
Location:202 → 221

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 ...

cl26464
Location:275 → 607

Atrophin-1; Atrophin-1 family
NM_027984.3 → NP_082260.1 epsin-3 isoform 1

See identical proteins and their annotated locations for NP_082260.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK009469, AL645809

Consensus CDS

CCDS25257.1

UniProtKB/Swiss-Prot

Q91W69, Q9CV55

UniProtKB/TrEMBL

Q3TZ84

Related

ENSMUSP00000121390.2, ENSMUST00000127305.2

Conserved Domains (3) summary

smart00726
Location:202 → 221

UIM; Ubiquitin-interacting motif

PHA03247
Location:302 → 634

PHA03247; large tegument protein UL36; Provisional

cd16990
Location:19 → 142

ENTH_Epsin; Epsin N-Terminal Homology (ENTH) domain of Epsin family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

94380425..94390800 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006534266.4 → XP_006534329.1 epsin-3 isoform X1

See identical proteins and their annotated locations for XP_006534329.1

UniProtKB/Swiss-Prot

Q91W69, Q9CV55

UniProtKB/TrEMBL

Q3TZ84

Conserved Domains (3) summary

smart00726
Location:202 → 221

UIM; Ubiquitin-interacting motif

PHA03247
Location:302 → 634

PHA03247; large tegument protein UL36; Provisional

cd16990
Location:19 → 142

ENTH_Epsin; Epsin N-Terminal Homology (ENTH) domain of Epsin family