EPS15 - epidermal growth factor receptor pathway substrate 15 Gene

中文名称：表皮生长因子受体通路底物 15

种属: Homo sapiens

同用名: AF1P; AF-1P; MLLT5

基因 ID: 2060 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是 EGFR 通路的一部分。该蛋白质存在于网格蛋白包被的凹坑中，并参与受体介导的 EGF 内吞作用。值得注意的是，该基因在急性髓性白血病中与 HRX/ALL/MLL 基因重排。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2009 年 5 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables polyubiquitin modification-dependent protein binding	IDA IDA: 通过直接分析推断	24768539	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	10064583	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in Golgi to endosome transport	IMP IMP: 通过突变表型推断	24768539	GOA
involved in clathrin coat assembly	IDA IDA: 通过直接分析推断	12807910	GOA
involved in receptor-mediated endocytosis of virus by host cell	IMP IMP: 通过突变表型推断	21047970	GOA
involved in symbiont entry into host cell	IMP IMP: 通过突变表型推断	20202662	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in aggresome	IDA IDA: 通过直接分析推断	16159959	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	15465819	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

EPS15 蛋白结构

EF-hand_4

0
200
400
600
800
896 a.a.

蛋白主名

其他名称

epidermal growth factor receptor substrate 15

ALL1 fused gene from chromosome 1

EPS15 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	EPS15	P42566	SH3BP4	Homo sapiens	Q9P0V3	Phage Display	35044719
种属内	EPS15	P42566	SH3BP4	Homo sapiens	Q9P0V3	Anti Bait CoIP	16325581
种属内	EPS15	P42566	FCHO2	Homo sapiens	Q0JRZ9	Anti Tag CoIP	35271311
种属内	EPS15	P42566	FCHO2	Homo sapiens	Q0JRZ9	TAP	19380743
种属内	EPS15	P42566	PICALM	Homo sapiens	Q13492	Phage Display	35044719
种属间	EPS15	P42566	Numb	Mus musculus	Q9QZS3-2	PLA	23211419
种属内	EPS15	P42566	NCK1	Homo sapiens	P16333	Peptide Array	17474147
种属内	EPS15	P42566	STON2	Homo sapiens	Q8WXE9	IF	18200045
种属内	EPS15	P42566	STON2	Homo sapiens	Q8WXE9	Anti Bait CoIP	18200045
种属内	EPS15	P42566	STON2	Homo sapiens	Q8WXE9	Phage Display	35044719
种属内	EPS15	P42566	STON2	Homo sapiens	Q8WXE9	TAP	19380743
种属内	EPS15	P42566	STON2	Homo sapiens	Q8WXE9	ITC	18200045
种属内	EPS15	P42566	STON2	Homo sapiens	Q8WXE9	Phage Display	37219487
种属内	EPS15	P42566	ITSN1	Homo sapiens	Q15811	Anti Bait CoIP	10064583
种属间	EPS15	P42566	Fcho2	Mus musculus	Q3UQN2	Pull Down	20448150
种属内	EPS15	P42566	EPN1	Homo sapiens	Q9Y6I3	Phage Display	35044719
种属内	EPS15	P42566	UBQLN1	Homo sapiens	Q9UMX0	Imaging	17082820
种属内	EPS15	P42566	UBQLN1	Homo sapiens	Q9UMX0	Pull Down	17082820
种属内	EPS15	P42566	NUMB	Homo sapiens	P49757	Phage Display	37219487
种属间	EPS15	P42566	Numb	Mus musculus	Q9QZS3-1	PLA	23211419

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 EPS15 蛋白

目录号	产品名	蛋白编号	纯度
HY-P700485	EPS15 Protein, Human (His)	P42566-1 (C657-D798)	≥95%

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS04452	EPS15 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS04453	EPS15L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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