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EPN3 epsin 3 [ Homo sapiens (human) ]

Gene ID: 55040, updated on 23-Nov-2021

Summary

Official Symbol
EPN3provided by HGNC
Official Full Name
epsin 3provided by HGNC
Primary source
HGNC:HGNC:18235
See related
Ensembl:ENSG00000049283 MIM:607264
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
Expression
Broad expression in stomach (RPKM 11.8), esophagus (RPKM 7.2) and 16 other tissues See more
Orthologs
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Genomic context

See EPN3 in Genome Data Viewer
Location:
17q21.33
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (50532735..50543750)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48610096..48621111)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9450 Neighboring gene radical S-adenosyl methionine domain containing 1 Neighboring gene MYCBP associated protein Neighboring gene uncharacterized LOC105371824 Neighboring gene spermatogenesis associated 20 Neighboring gene CACNA1G antisense RNA 1 Neighboring gene calcium voltage-gated channel subunit alpha1 G

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20778, MGC129899

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
PubMed 
enables phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
Component Evidence Code Pubs
part_of clathrin vesicle coat IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in extrinsic component of plasma membrane IDA
Inferred from Direct Assay
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
PubMed 

General protein information

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)

  1. NM_017957.3NP_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
    Q9H201
    Related
    ENSP00000268933.3, ENST00000268933.8
    Conserved Domains (3) summary
    smart00726
    Location:209228
    UIM; Ubiquitin-interacting motif
    cd03571
    Location:19141
    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:236252
    UIM; Ubiquitin interaction motif

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    50532735..50543750
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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