TOMM40 - translocase of outer mitochondrial membrane 40 Gene

中文名称：线粒体外膜转位酶 40

种属: Homo sapiens

同用名: TOM40; PEREC1; C19orf1; PER-EC1; D19S1177E

基因 ID: 10452 | 基因类型: protein coding

关于 TOMM40

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:44,891,254-44,903,689 (from NCBI)

This gene has 7 transcripts (splice variants), 254 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in colon (RPKM 13.7), esophagus (RPKM 12.2) and 25 other tissues.

功能概要

由该基因编码的蛋白质定位于线粒体的外膜。它是线粒体外膜 (TOM) 复合体转位酶的通道形成亚基，对于将蛋白质前体导入线粒体至关重要。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2015 年 8 月]

The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]

TOMM40 基因产物(3)

mRNA	Protein	Name
NM_001128916.2	NP_001122388.1	mitochondrial import receptor subunit TOM40 homolog
NM_001128917.2	NP_001122389.1	mitochondrial import receptor subunit TOM40 homolog
NM_006114.3	NP_006105.1	mitochondrial import receptor subunit TOM40 homolog

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 protein binding	IPI IPI: 通过物理相互作用推断	27554484	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in protein targeting to mitochondrion	IGI IGI: 通过遗传相互作用推断	31206022	GOA
involved in protein targeting to mitochondrion	IMP IMP: 通过突变表型推断	15644312	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in membrane	IDA IDA: 通过直接分析推断	15644312	GOA
located in mitochondria-associated endoplasmic reticulum membrane contact site	IDA IDA: 通过直接分析推断	31206022	GOA
located in mitochondrial inner membrane	IDA IDA: 通过直接分析推断	24746669	GOA
part of mitochondrial outer membrane translocase complex	IDA IDA: 通过直接分析推断	12198123	GOA
NOT located in mitochondrion	IMP IMP: 通过突变表型推断	11745481	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

TOMM40 蛋白结构

Porin_3

0
100
200
300
361 a.a.

蛋白主名

其他名称

mitochondrial import receptor subunit TOM40 homolog

mitochondrial outer membrane protein

TOMM40 抗体

目录号	产品名	应用	反应物种
HY-P87116	TOMM40 Antibody (YA6809)	WB, IHC-P, ICC/IF, FC, IP	Human, Mouse, Rat

关联疾病

疾病名称

别名

Early-Onset, Autosomal Dominant Alzheimer Disease

Familial Alzheimer Disease	Early-Onset Autosomal Dominant Alzheimer Disease
Eofad	Early-Onset Familial Autosomal Dominant Alzheimer Disease
Alzheimer'S Disease, Familial

Barth Syndrome

3-Methylglutaconic Aciduria Type 2	BTHS
Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria	Mga Type Ii
Mga2	Mgca2
Mga Type 2	3-Methylglutaconic Aciduria Type Ii
3-Methylglutaconic Aciduria, Type Ii	Mga, Type Ii
3-Methylglutaconicaciduria Type 2	3-Methylglutaconicaciduria Type Ii
Taz Defect	3 Methylglutaconic Aciduria, Type Ii
Dnajc19 Defect	Cardioskeletal Myopathy-Neutropenia Syndrome
X-Linked Cardioskeletal Myopathy And Neutropenia	3-Alpha-Methylglutaconic Aciduria Type 2
Agm2	Cardioskeletal Myopathy-Neutropenia
Invm	Left Ventricular Non-Compaction Isolated X-Linked
Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked	Agammaglobulinemia 2, Autosomal Recessive

Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 11	CMS11
Cms Ie	Cms1e
Myasthenic Syndrome, Congenital, Ie	Myasthenic Syndrome, Congenital, Ie, Formerly
Cms1e, Formerly	Cms Ie, Formerly
Congenital Myasthenic Syndrome 11 Associated With Acetylcholine Receptor Deficiency	Congenital Myasthenic Syndrome 1e
Myasthenic Syndrome, Congenital, Type 11, Associated With Acetylcholine Receptor Deficiency

Aphasia

Frontotemporal Dementia

Pallidopontonigral Degeneration	Frontotemporal Lobar Degeneration
Semantic Dementia	FTD
Frontotemporal Lobe Dementia	Multiple System Tauopathy With Presenile Dementia
Dementia, Frontotemporal	Frontotemporal Dementia With Parkinsonism
Mstd	Frontotemporal Lobar Degeneration With Tau Inclusions
Ftld With Tau Inclusions	Dementia, Frontotemporal, With Parkinsonism
Fldem	Ftdp17
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex	Ddpac
Wilhelmsen-Lynch Disease	Wld
Ppnd	Dementia, Frontotemporal, With Or Without Parkinsonism
Semantic Primary Progressive Aphasia	Semantic Variant Ppa
Wilhemsen-Lynch Disease	Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17	Ftd-Als
Ftld	Pick Complex
Pick Disease Of The Brain	Frontotemporal Dementia With Parkinsonism-17
Grn-Related Frontotemporal Dementia	Frontotemporal Dementia With Motor Neuron Disease
Dementia In Fronto-Temporal Lobar Degeneration	Ftd - [Frontotemporal Dementia]
Temple Dementia	Frontal Lobe Dementia

Wolfram Syndrome

Didmoad Syndrome	Didmoad
Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness	Wfs
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness	Didmoadud
Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome	Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome

Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy	CNM1
Centronuclear Myopathy 1	Ad-Cnm
Myopathy, Centronuclear, Autosomal Dominant	Myotubular Myopathy, Autosomal Dominant
Centronuclear Myopathy, Autosomal, Modifier Of	Autosomal Dominant Myotubular Myopathy
Dnm2-Related Centronuclear Myopathy	Centronuclear Myopathy Autosomal Dominant
Myopathies, Structural, Congenital	Myopathy, Centronuclear, Type 1

Mohr-Tranebjaerg Syndrome

Deafness-Dystonia-Optic Neuronopathy Syndrome	Jensen Syndrome
Deafness Dystonia Syndrome	MTS
Dds	Deafness-Dystonia-Optic Atrophy Syndrome
Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency	Opticoacoustic Nerve Atrophy With Dementia
Dystonia-Deafness Syndrome	Ddp
Ddon Syndrome	Mohr-Tranebjærg Syndrome
Deafness Dystonia Optic Atrophy Syndrome	Deafness Dystonia Optic Neuronopathy Syndrome
Dystonia Deafness Syndrome	Ddon
Deafness - Dystonia - Optic Neuronopathy Syndrome	Deafness-Dystonia-Optic Neuronopathy Syndrome
Hearing Loss-Dystonia-Optic Neuronopathy Syndrome	Dfn-1
X-Linked Progressive Deafness Type 1

Mild Cognitive Impairment

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

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-RS14882	TOMM40 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS14883	TOMM40L Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	TOMM40	VGNC	VGNC:49033
Felis catus	TOMM40	VGNC	VGNC:66444
Mus musculus	TOMM40	MGD	MGI:1858259
Bos taurus	TOMM40	VGNC	VGNC:49148
Rattus norvegicus	TOMM40	RGD	RGD:1303022
Macaca mulatta	TOMM40	VGNC	VGNC:78419

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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）

TOMM40 - translocase of outer mitochondrial membrane 40 Gene

关于 TOMM40

功能概要

TOMM40 基因产物(3)

TOMM40 蛋白结构

TOMM40 抗体

关联疾病

直系同源

热门区域

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TOMM40 - translocase of outer mitochondrial membrane 40 Gene

关于 TOMM40

功能概要

TOMM40 基因产物(3)

TOMM40 蛋白结构

TOMM40 抗体

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