EPS15 - epidermal growth factor receptor pathway substrate 15 Gene

Homo sapiens

Also known as AF1P; AF-1P; MLLT5

Gene ID: 2060 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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.	Product Name	Accession	Purity
HY-P700485	EPS15 Protein, Human (His)	P42566-1 (C657-D798)	≥95%

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04452	EPS15 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS04453	EPS15L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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