EHD1 - EH domain containing 1 Gene

中文名称：含 EH 结构域 1

种属: Homo sapiens

同用名: PAST; PAST1; H-PAST; HPAST1

基因 ID: 10938 | 基因类型: protein coding

关于 EHD1

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:64,851,642-64,879,693 (from NCBI)

This gene has 13 transcripts (splice variants), 223 orthologues and 10 paralogues. Broad expression in bone marrow (RPKM 39.6), testis (RPKM 32.1) and 24 other tissues.

功能概要

该基因属于一个高度保守的基因家族，编码包含 EPS15 同源 (EH) 结构域的蛋白质。蛋白结合 EH 结构域首先在 EPS15 中被发现，EPS15 是表皮生长因子受体的底物。 EH 结构域已被证明是参与蛋白质-蛋白质相互作用和细胞内分选的蛋白质中的重要基序。该基因编码的蛋白质被认为在 IGF1 受体的内吞作用中发挥作用。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2013 年 9 月]

This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]

EHD1 基因产物(3)

mRNA	Protein	Name
NM_001282444.2	NP_001269373.1	EH domain-containing protein 1 isoform 1
NM_001282445.2	NP_001269374.1	EH domain-containing protein 1 isoform 2
NM_006795.4	NP_006786.2	EH domain-containing protein 1 isoform 1

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 identical protein binding	IPI IPI: 通过物理相互作用推断	12121420	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12121420	GOA
enables small GTPase binding	IPI IPI: 通过物理相互作用推断	19864458	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cilium assembly	IMP IMP: 通过突变表型推断	25686250	GOA
involved in endocytic recycling	IGI IGI: 通过遗传相互作用推断	17233914	GOA
involved in endocytic recycling	IMP IMP: 通过突变表型推断	15020713	GOA
involved in endocytosis	IMP IMP: 通过突变表型推断	20801876	GOA
involved in intracellular protein transport	IMP IMP: 通过突变表型推断	15020713	GOA
involved in protein homooligomerization	IPI IPI: 通过物理相互作用推断	17233914	GOA
involved in protein localization to cilium	IMP IMP: 通过突变表型推断	25686250	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in ciliary pocket membrane	IDA IDA: 通过直接分析推断	25686250	GOA
located in early endosome membrane	IDA IDA: 通过直接分析推断	15020713	GOA
located in recycling endosome membrane	IDA IDA: 通过直接分析推断	15020713	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

EHD1 蛋白结构

Dynamin_N

EF-hand_4

0
100
200
300
400
500
534 a.a.

蛋白主名

其他名称

EH domain-containing protein 1

PAST homolog 1

EHD1 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
Intra	EHD1	Q9H4M9	MICALL1	Homo sapiens	Q8N3F8	PLA	22284051
Intra	EHD1	Q9H4M9	MICALL1	Homo sapiens	Q8N3F8	ITC	27189942
Intra	EHD1	Q9H4M9	MICALL1	Homo sapiens	Q8N3F8	Y2H	27189942
Intra	EHD1	Q9H4M9	MICALL1	Homo sapiens	Q8N3F8	Confocal	19864458
Intra	EHD1	Q9H4M9	MICALL1	Homo sapiens	Q8N3F8	Anti Tag CoIP	19864458
Intra	EHD1	Q9H4M9	MICALL1	Homo sapiens	Q8N3F8	Y2H	19864458
Intra	EHD1	Q9H4M9	MICALL1	Homo sapiens	Q8N3F8	Pull Down	19864458
Intra	EHD1	Q9H4M9	RBSN	Homo sapiens	Q9H1K0	Pull Down	15020713
Intra	EHD1	Q9H4M9	RBSN	Homo sapiens	Q9H1K0	Confocal	15020713
Intra	EHD1	Q9H4M9	RBSN	Homo sapiens	Q9H1K0	Y2H	15020713
Intra	EHD1	Q9H4M9	ANKFY1	Homo sapiens	Q9P2R3	Y2H	27189942
Intra	EHD1	Q9H4M9	EHD3	Homo sapiens	Q9NZN3	Y2H Array	32296183
Intra	EHD1	Q9H4M9	EHD3	Homo sapiens	Q9NZN3	Validated Y2H	32296183
Intra	EHD1	Q9H4M9	EHD3	Homo sapiens	Q9NZN3	Y2H Prey Pooling	32296183
Intra	EHD1	Q9H4M9	SNAP29	Homo sapiens	O95721	Y2H Prey Pooling	32296183
Intra	EHD1	Q9H4M9	SNAP29	Homo sapiens	O95721	Y2H Array	32296183
Cross	EHD1	Q9H4M9	Ehd3	Mus musculus	Q9QXY6	Y2H	12121420
Cross	EHD1	Q9H4M9	Ehd3	Mus musculus	Q9QXY6	Anti Tag CoIP	12121420
Cross	EHD1	Q9H4M9	Ehd3	Mus musculus	Q9QXY6	Confocal	12121420
Cross	EHD1	Q9H4M9	Ehd3	Mus musculus	Q9QXY6	FRET	12121420

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Pancreatic Serous Cystic Neoplasm

Pancreatic Serous Neoplasm

Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome

Cednik Syndrome	CEDNIK
Cerebral Dysgenesis, Neuropathy, Ichthyosis And Keratoderma Syndrome	Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndro
Cerebral Dysgenesis-Neuropathy-Ichthyosis-Palmoplantar Keratoderma Syndrome	Cerebral Dysgenesis-Neuropathy-Ichthyosis-Keratoderma Syndrome
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma	Neurocutaneous Syndromes

Subvalvular Aortic Stenosis

Fixed Subaortic Stenosis	Subaortic Stenosis
Aortic Stenosis, Subvalvular

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1

Dysequilibrium Syndrome	CAMRQ1
Des	Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1
Cerebellar Hypoplasia, Vldlr-Associated	Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1
Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome	Uner Tan Syndrome
Vldlr Cerebellar Hypoplasia	Vldlrch
Vldlr-Associated Cerebellar Hypoplasia	Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1
Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive	Camrq
Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1	Cerebellar Disorder, Nonprogressive, With Intellectual Disability
Cerebellar Hypoplasia, Vldlr Associated	Autosomal Recessive Cerebellar Ataxia With Mental Retardation
Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification	Cerebellar Disorder, Nonprogressive, With Mental Retardation
Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion	Chmrq1
Des-Vldlr	Dysequilibrium Syndrome-Vldlr
Vldlr-Ch	Camrq Syndrome
Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome	Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome
Uts	Cerebellar Hypoplasia Vldlr-Associated
Dialysis Disequilibrium Syndrome

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Bardet-Biedl Syndrome 1

BBS1	Bardet-Biedl Syndrome 1, Modifier Of
Bardet-Biedl Syndrome	BBS
Bardet-Biedl Syndrome, Type 1	Laurence-Moon-Bardet-Biedl Syndrome

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-RS04221	EHD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	EHD1	RGD	RGD:1309017
Canis familiaris	EHD1	VGNC	VGNC:51867
Macaca mulatta	EHD1	VGNC	VGNC:72175
Mus musculus	EHD1	MGD	MGI:1341878
Felis catus	EHD1	VGNC	VGNC:61763
Bos taurus	EHD1	VGNC	VGNC:56263

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

EHD1 - EH domain containing 1 Gene

关于 EHD1

功能概要

EHD1 基因产物(3)

EHD1 蛋白结构

EHD1 蛋白互作信息

关联疾病

直系同源

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EHD1 - EH domain containing 1 Gene

关于 EHD1

功能概要

EHD1 基因产物(3)

EHD1 蛋白结构

EHD1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z