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EPS15 - epidermal growth factor receptor pathway substrate 15 Gene

Also Known as AF1P; AF-1P; MLLT5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2060

About EPS15

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:51,354,263-51,519,266 (from NCBI)

This gene has 16 transcripts (splice variants), 260 orthologues, 10 paralogues and is associated with 70 phenotypes. Ubiquitous expression in brain (RPKM 29.8), testis (RPKM 29.2) and 25 other tissues.

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]

EPS15 Products (4)

mRNA	Protein	Name
NM_001159969.2	NP_001153441.1	epidermal growth factor receptor substrate 15 isoform B
NM_001410796.1	NP_001397725.1	epidermal growth factor receptor substrate 15 isoform C
NM_001410797.1	NP_001397726.1	epidermal growth factor receptor substrate 15 isoform D
NM_001981.3	NP_001972.1	epidermal growth factor receptor substrate 15 isoform A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables polyubiquitin modification-dependent protein binding	IDA IDA: Inferred from direct assay	24768539	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10064583	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in Golgi to endosome transport	IMP IMP: Inferred from mutant phenotype	24768539	GOA
involved in clathrin coat assembly	IDA IDA: Inferred from direct assay	12807910	GOA
involved in receptor-mediated endocytosis of virus by host cell	IMP IMP: Inferred from mutant phenotype	21047970	GOA
involved in symbiont entry into host cell	IMP IMP: Inferred from mutant phenotype	20202662	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in aggresome	IDA IDA: Inferred from direct assay	16159959	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	15465819	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EPS15 Protein Structure

EF-hand_4

0
200
400
600
800
896 a.a.

Protein Preferred Names	Protein Names
epidermal growth factor receptor substrate 15	ALL1 fused gene from chromosome 1

EPS15 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	EPS15	P42566	SH3BP4	Homo sapiens	Q9P0V3	Phage Display	35044719
Intra	EPS15	P42566	SH3BP4	Homo sapiens	Q9P0V3	Anti Bait CoIP	16325581
Intra	EPS15	P42566	FCHO2	Homo sapiens	Q0JRZ9	Anti Tag CoIP	35271311
Intra	EPS15	P42566	FCHO2	Homo sapiens	Q0JRZ9	TAP	19380743
Intra	EPS15	P42566	PICALM	Homo sapiens	Q13492	Phage Display	35044719
Cross	EPS15	P42566	Numb	Mus musculus	Q9QZS3-2	PLA	23211419
Intra	EPS15	P42566	NCK1	Homo sapiens	P16333	Peptide Array	17474147
Intra	EPS15	P42566	STON2	Homo sapiens	Q8WXE9	IF	18200045
Intra	EPS15	P42566	STON2	Homo sapiens	Q8WXE9	Anti Bait CoIP	18200045
Intra	EPS15	P42566	STON2	Homo sapiens	Q8WXE9	Phage Display	35044719
Intra	EPS15	P42566	STON2	Homo sapiens	Q8WXE9	TAP	19380743
Intra	EPS15	P42566	STON2	Homo sapiens	Q8WXE9	ITC	18200045
Intra	EPS15	P42566	STON2	Homo sapiens	Q8WXE9	Phage Display	37219487
Intra	EPS15	P42566	ITSN1	Homo sapiens	Q15811	Anti Bait CoIP	10064583
Cross	EPS15	P42566	Fcho2	Mus musculus	Q3UQN2	Pull Down	20448150
Intra	EPS15	P42566	EPN1	Homo sapiens	Q9Y6I3	Phage Display	35044719
Intra	EPS15	P42566	UBQLN1	Homo sapiens	Q9UMX0	Imaging	17082820
Intra	EPS15	P42566	UBQLN1	Homo sapiens	Q9UMX0	Pull Down	17082820
Intra	EPS15	P42566	NUMB	Homo sapiens	P49757	Phage Display	37219487
Cross	EPS15	P42566	Numb	Mus musculus	Q9QZS3-1	PLA	23211419

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant EPS15 Proteins

Cat. No.	Nom du produit	Accession	Pureté
HY-P700485	EPS15 Protein, Human (His)	P42566-1 (C657-D798)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Vaccinia
Menkes Disease	Copper Transport Disease Menkes Syndrome MNK Kinky Hair Disease Steely Hair Disease Menkes Kinky-Hair Syndrome Mk Steely Hair Syndrome Menkea Syndrome Md Menkes Kinky Hair Syndrome Hypocupremia, Congenital Kinky Hair Syndrome X-Linked Copper Deficiency Menkes Kinky Hair Disease
Spastic Paraplegia 20, Autosomal Recessive	Troyer Syndrome SPG20 Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting Spastic Paraplegia, Autosomal Recessive, Troyer Type Autosomal Recessive Spastic Paraplegia Type 20 Autosomal Recessive Hereditary Spastic Paraplegia Spastic Paraplegia 20 Cross-Mckusick Syndrome Autosomal Recessive Spastic Paraplegia 20 Autosomal Recessive Spastic Paraplegia Troyer Type Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting Hereditary Spastic Paraplegia 20 Spastic Paraplegia Type 20 Hereditary Spastic Paraplegia Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting Spastic Paraplegia Autosomal Recessive Troyer Type Trs Spastic Paraplegia Hereditary Autosomal Recessive Spastic Paraplegia, Hereditary
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Autosomal Recessive Arh FHCL4 Autosomal Recessive Hypercholesterolemia Arh1 Arh2 Autosomal Recessive Hypercholesterolemia 1 Autosomal Recessive Hypercholesterolemia 2 Fhcb1 Fhcb2 Hypercholesterolemia, Autosomal Recessive, 1, Formerly Arh1, Formerly Fhcb1, Formerly Hypercholesterolemia, Autosomal Recessive, 2, Formerly Arh2, Formerly Fhcb2, Formerly Familial Autosomal Recessive Hypercholesterolemia Hypercholesterolemia, Familial, Autosomal Recessive Hypercholesterolemia, Familial, Type 4
Familial Hypercholesterolemia	Hyperlipoproteinemia Type Iia Familial Hyperbetalipoproteinaemia Familial Hypercholesteremia Fredrickson Type Iia Hyperlipoproteinemia Fredrickson Type Iia Lipidaemia Hyperbetalipoproteinemia Type Ii Hyperlipidemia Familial Hypercholesterolæmia Familial Hypercholesterolaemia Fh Hypercholesterolemia Familial Hyperlipoproteinemia Type Ii Hypercholesterolemia, Familial
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS04452	EPS15 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04453	EPS15L1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22489	Eps15 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29012	Eps15 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	EPS15	MGD	MGI:104583
Felis catus	EPS15	VGNC	VGNC:61918
Rattus norvegicus	EPS15	RGD	RGD:1305550
Macaca mulatta	EPS15	VGNC	VGNC:72248
Bos taurus	EPS15	VGNC	VGNC:28553
Others	EPS15	NCBI