TOMM40 - translocase of outer mitochondrial membrane 40 Gene

Also Known as TOM40; PEREC1; C19orf1; PER-EC1; D19S1177E

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10452

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27554484	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein targeting to mitochondrion	IGI IGI: Inferred from genetic interaction	31206022	GOA
involved in protein targeting to mitochondrion	IMP IMP: Inferred from mutant phenotype	15644312	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in membrane	IDA IDA: Inferred from direct assay	15644312	GOA
located in mitochondria-associated endoplasmic reticulum membrane contact site	IDA IDA: Inferred from direct assay	31206022	GOA
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	24746669	GOA
part of mitochondrial outer membrane translocase complex	IDA IDA: Inferred from direct assay	12198123	GOA
NOT located in mitochondrion	IMP IMP: Inferred from mutant phenotype	11745481	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

TOMM40 Protein Structure

Porin_3

0
100
200
300
361 a.a.

Protein Preferred Names	Protein Names
mitochondrial import receptor subunit TOM40 homolog	mitochondrial outer membrane protein

TOMM40 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P87116	TOMM40 Antibody (YA6809)	WB, IHC-P, ICC/IF, FC, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14882	TOMM40 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS14883	TOMM40L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	TOMM40	NCBI