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EPS15 epidermal growth factor receptor pathway substrate 15 [ Homo sapiens (human) ]

Gene ID: 2060, updated on 13-Mar-2020

Summary

Official Symbol
EPS15provided by HGNC
Official Full Name
epidermal growth factor receptor pathway substrate 15provided by HGNC
Primary source
HGNC:HGNC:3419
See related
Ensembl:ENSG00000085832 MIM:600051
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
Also known as
AF1P; AF-1P; MLLT5
Summary
This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009]
Expression
Ubiquitous expression in brain (RPKM 29.8), testis (RPKM 29.2) and 25 other tissues See more
Orthologs

Genomic context

See EPS15 in Genome Data Viewer
Location:
1p32.3
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (51354263..51519275, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (51819935..51985026, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 39A Neighboring gene uncharacterized LOC105378717 Neighboring gene TTC39A antisense RNA 1 Neighboring gene proteasome 26S subunit, non-ATPase 7 pseudogene Neighboring gene RNA, U6 small nuclear 877, pseudogene Neighboring gene EPS15 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1281, pseudogene Neighboring gene calreticulin 4, pseudogene

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?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of EPS15 by shRNA significantly inhibits HIV-1 replication in CD4+ T-cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Nef nef Genome-wide shRNA screening identifies EPS15, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed
Pr55(Gag) gag Inhibition of endocytosis by siRNA-mediated depletion of EPS15, STX7, RAB7, and VAMP7 restores Gag/p24 expression in the presence of APOL1 PubMed
capsid gag Inhibition of endocytosis by siRNA-mediated depletion of EPS15, STX7, RAB7, and VAMP7 restores Gag/p24 expression in the presence of APOL1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
cadherin binding HDA PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
polyubiquitin modification-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Golgi to endosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
clathrin coat assembly IDA
Inferred from Direct Assay
more info
PubMed 
endocytic recycling IC
Inferred by Curator
more info
PubMed 
membrane organization TAS
Traceable Author Statement
more info
 
negative regulation of epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of receptor recycling IEA
Inferred from Electronic Annotation
more info
 
postsynaptic neurotransmitter receptor internalization IEA
Inferred from Electronic Annotation
more info
 
receptor-mediated endocytosis of virus by host cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
vesicle organization TAS
Traceable Author Statement
more info
PubMed 
viral entry into host cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
AP-2 adaptor complex IEA
Inferred from Electronic Annotation
more info
 
aggresome IDA
Inferred from Direct Assay
more info
PubMed 
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
basal plasma membrane IEA
Inferred from Electronic Annotation
more info
 
ciliary membrane IEA
Inferred from Electronic Annotation
more info
 
clathrin-coated pit TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
postsynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
epidermal growth factor receptor substrate 15
Names
ALL1 fused gene from chromosome 1
protein AF-1p

NCBI Reference Sequences (RefSeq)

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_001159969.2NP_001153441.1  epidermal growth factor receptor substrate 15 isoform B

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks multiple exons at the 5' end and has a distinct 5' UTR and start codon, compared to variant 1. These differences result in a protein (isoform B) with a shorter and distinct N-terminus, compared to isoform A. Isoform B localizes to early endosome membranes.
    Source sequence(s)
    AA789139, AK294297, AW949896, BM681433, BX647676, DA801048, U07707
    UniProtKB/Swiss-Prot
    P42566
    UniProtKB/TrEMBL
    B7Z240
    Conserved Domains (4) summary
    pfam07926
    Location:89195
    TPR_MLP1_2; TPR/MLP1/MLP2-like protein
    pfam10211
    Location:39121
    Ax_dynein_light; Axonemal dynein light chain
    pfam12329
    Location:82151
    TMF_DNA_bd; TATA element modulatory factor 1 DNA binding
    pfam15898
    Location:129195
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
  2. NM_001981.3NP_001972.1  epidermal growth factor receptor substrate 15 isoform A

    See identical proteins and their annotated locations for NP_001972.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (A). Isoform A mainly localizes to clathrin-coated pits at the plasma membrane.
    Source sequence(s)
    AL671986, CD657119, Z29064
    Consensus CDS
    CCDS557.1
    UniProtKB/Swiss-Prot
    P42566
    Related
    ENSP00000360798.3, ENST00000371733.8
    Conserved Domains (5) summary
    smart00027
    Location:121215
    EH; Eps15 homology domain
    cd00052
    Location:228293
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    pfam03528
    Location:332750
    Rabaptin; Rabaptin
    pfam12329
    Location:396465
    TMF_DNA_bd; TATA element modulatory factor 1 DNA binding
    pfam16043
    Location:335501
    DUF4795; Domain of unknown function (DUF4795)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    51354263..51519275 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000618.2XP_016856107.1  epidermal growth factor receptor substrate 15 isoform X5

  2. XM_017000617.2XP_016856106.1  epidermal growth factor receptor substrate 15 isoform X4

    Related
    ENSP00000360795.2, ENST00000371730.6
  3. XM_017000616.2XP_016856105.1  epidermal growth factor receptor substrate 15 isoform X3

  4. XM_017000615.2XP_016856104.1  epidermal growth factor receptor substrate 15 isoform X1

  5. XM_005270618.3XP_005270675.1  epidermal growth factor receptor substrate 15 isoform X2

    Conserved Domains (5) summary
    smart00027
    Location:188283
    EH; Eps15 homology domain
    cd00052
    Location:198263
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    pfam03528
    Location:302720
    Rabaptin; Rabaptin
    pfam12329
    Location:366435
    TMF_DNA_bd; TATA element modulatory factor 1 DNA binding
    pfam16043
    Location:305471
    DUF4795; Domain of unknown function (DUF4795)
  6. XM_017000619.2XP_016856108.1  epidermal growth factor receptor substrate 15 isoform X6

    Conserved Domains (5) summary
    smart00027
    Location:30125
    EH; Eps15 homology domain
    cd00052
    Location:40105
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    pfam07926
    Location:215321
    TPR_MLP1_2; TPR/MLP1/MLP2-like protein
    pfam12329
    Location:208277
    TMF_DNA_bd; TATA element modulatory factor 1 DNA binding
    pfam16043
    Location:147313
    DUF4795; Domain of unknown function (DUF4795)
  7. XM_017000620.2XP_016856109.1  epidermal growth factor receptor substrate 15 isoform X7

    Conserved Domains (5) summary
    smart00027
    Location:175
    EH; Eps15 homology domain
    cd00052
    Location:155
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
    pfam07926
    Location:165271
    TPR_MLP1_2; TPR/MLP1/MLP2-like protein
    pfam12329
    Location:158227
    TMF_DNA_bd; TATA element modulatory factor 1 DNA binding
    pfam16043
    Location:97263
    DUF4795; Domain of unknown function (DUF4795)
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