TOMM20 - translocase of outer mitochondrial membrane 20 Gene

Also Known as MAS20; MOM19; TOM20

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9804

About TOMM20

Cytogenetic location: 1q42.3 Genomic coordinates (GRCh38): 1:235,109,341-235,128,837 (from NCBI)

This gene has 3 transcripts (splice variants), 225 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 101.1), brain (RPKM 96.3) and 25 other tissues.

Summary

Enables protein-transporting ATPase activity and unfolded protein binding activity. Involved in protein targeting to mitochondrion. Located in mitochondria-associated endoplasmic reticulum membrane and mitochondrial outer membrane. [provided by Alliance of Genome Resources, Apr 2022]

TOMM20 Products (1)

mRNA Protein Name
NM_014765.3 NP_055580.1 mitochondrial import receptor subunit TOM20 homolog
Molecular Function GO Annotation Evidence Verweise Source
enables mitochondrion targeting sequence binding IDA
IDA: Inferred from direct assay
35733257 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
14557246 GOA
enables protein-transporting ATPase activity IDA
IDA: Inferred from direct assay
14557246 GOA
enables unfolded protein binding IDA
IDA: Inferred from direct assay
14557246 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in protein targeting to mitochondrion IDA
IDA: Inferred from direct assay
14557246 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in mitochondria-associated endoplasmic reticulum membrane contact site IDA
IDA: Inferred from direct assay
23455425 GOA
located in mitochondrial outer membrane IDA
IDA: Inferred from direct assay
25997101 GOA
is active in mitochondrion IDA
IDA: Inferred from direct assay
32848200 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
20628368 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

TOMM20 Protein Structure

MAS20

MAS20: MAS20 protein import receptor (8 - 127)

  • 0
  • 100
  • 145 a.a.
Protein Preferred Names Protein Names

mitochondrial import receptor subunit TOM20 homolog

  • mitochondrial 20 kDa outer membrane protein

TOMM20 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
TOMM20 Q15388 TOMM7 Homo sapiens Q9P0U1 35271311
Cross: Cross-species interaction Intra: Intraspecies interaction

TOMM20 Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P81635 TOMM20 Antibody (YA1380) WB, IHC-F, IHC-P, ICC/IF Human, Hamster
HY-P81635A TOMM20 Antibody (YA1380)(PBS only) WB, IHC-F, IHC-P, ICC/IF Human, Hamster
HY-P86575 TOMM20 Antibody (YA6267) WB, IHC-P, ICC/IF, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Optic Atrophy 11
  • OPA11

  • Atrophy, Optic, Type 11

Myopathy, Lactic Acidosis, And Sideroblastic Anemia 3
  • MLASA3

3-Methylglutaconic Aciduria, Type Iii
  • Optic Atrophy

  • 3-Methylglutaconic Aciduria Type 3

  • Costeff Syndrome

  • Mga3

  • Costeff Optic Atrophy Syndrome

  • Optic Atrophy Plus Syndrome

  • Infantile Optic Atrophy With Chorea And Spastic Paraplegia

  • 3-Methylglutaconic Aciduria Type Iii

  • Autosomal Recessive Optic Atrophy Plus Syndrome

  • Autosomal Recessive Optic Atrophy Type 3

  • Opa3 Defect

  • MGCA3

  • Mga, Type Iii

  • Iraqi Jewish Optic Atrophy Plus

  • Mga Type Iii

  • Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

  • Iraqi-Jewish 'Optic Atrophy Plus'

  • Optic Atrophy 3, Autosomal Recessive

  • Opa3, Autosomal Recessive

  • Opa3-Related 3-Methylglutaconic Aciduria

  • Iraqi-Jewish Optic Atrophy Plus

  • Atrophy Of Optic Disc

  • 3-Alpha Methylglutaconic Aciduria Type Iii

  • Optic Atrophy 3

  • Optic Atrophy Infantile With Chorea And Spastic Paraplegia

  • Autosomal Recessive Opa3

  • Autosomal Recessive Optic Atrophy 3

  • 3-Methylglutaconic Aciduria 3

  • 3-Alpha-Methylglutaconic Aciduria Type 3

  • Optic Atrophy 3 Autosomal Recessive

  • Atrophy, Optic

  • Atrophy, Optic, Plus Syndrome

  • Optic Nerve Atrophy

  • Primary Optic Atrophy

  • Oa - [Optic Atrophy]

  • Second Cranial Nerve Atrophy

  • Second Cranium Nerve Atrophy

Parkinson Disease 2, Autosomal Recessive Juvenile
  • Young-Onset Parkinson Disease

  • PARK2

  • Pdj

  • Autosomal Recessive Juvenile Parkinson Disease 2

  • Epdf

  • Parkinson Disease, Juvenile, Type 2

  • Parkinson'S Disease 2

  • Autosomal Recessive Juvenile Parkinson Disease

  • Early-Onset Parkinson Disease

  • Parkinson Disease 2

  • Parkinson Disease, Juvenile, Autosomal Recessive

  • Parkinsonism, Early-Onset, With Diurnal Fluctuation

  • Autosomal Recessive Juvenile Parkinson'S Disease 2

  • Jp

  • Juvenile Parkinsonism

  • Parkinson Disease Autosomal Recessive, Early Onset

  • Parkinsonism, Early Onset, With Diurnal Fluctuation

  • Yopd

  • Autosomal Recessive Early-Onset Parkinson Disease Type 2

  • Chromosome 6-Linked Autosomal Recessive Parkinsonism

  • Early-Onset Parkinsonism With Diurnal Fluctuation

  • Parkinsonism Young Adult Onset

  • Parkinson Disease, Type 2

  • Parkinsonism, Juvenile

Combined Oxidative Phosphorylation Deficiency 37
  • COXPD37

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

Early-Onset Parkinson'S Disease
  • Early-Onset Parkinson Disease

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

Optic Nerve Disease
  • Optic Neuropathy

  • Disorder Of The Second Nerve

  • Optic Nerve Disorder

  • Optic Nerve

  • Abnormality Of The Optic Nerve

  • Optic Nerve Disorders

  • Neuropathy, Optic

  • Disorder Of The Optic Nerve

Zellweger Syndrome
  • Cerebrohepatorenal Syndrome

  • Zellweger Leukodystrophy

  • Zs

  • Congenital Iron Overload

  • Chr

  • Zws

  • Severe Pbd-Zsd

  • Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Mitochondrial Complex I Deficiency, Nuclear Type 1
  • Mitochondrial Complex I Deficiency

  • Nadh:Q(1) Oxidoreductase Deficiency

  • MC1DN1

  • Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Mitochondrial Respiratory Chain Complex I Deficiency

  • Isolated Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Nadh-Coq Reductase Deficiency

  • Isolated Nadh-Ubiquinone Reductase Deficiency

  • Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

  • Nuclear Type Mitochondrial Complex I Deficiency 1

  • Isolated Complex I Deficiency

  • Complex 1 Mitochondrial Respiratory Chain Deficiency

  • Nadh Coenzyme Q Reductase Deficiency

  • Complex I Mitochondrial Respiratory Chain Deficiency

  • Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

  • Nadh:Ubiquinone Oxidoreductase Deficiency

  • Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Hereditary Spastic Paraplegia
  • Familial Spastic Paraplegia

  • Hereditary Spastic Paraparesis

  • Strumpell-Lorrain Disease

  • Familial Spastic Paraparesis

  • Hsp

  • Spg

  • Strümpell-Lorrain Disease

  • Spastic Paraplegia, Hereditary

  • French Settlement Disease

  • Strumpell-Lorrain Syndrome

  • Fsp

  • Spastic Paraplegia, Familial

  • Spastic Paraplegia Hereditary

  • Spastic Paraplegia 3, Autosomal Dominant

  • Spastic Paraparesis

  • Hereditary Spastic Paralysis

  • Familial Spastic Paralysis

  • Hereditary Spastic Ataxia

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus TOMM20 RGD RGD:708467
Bos taurus TOMM20 VGNC VGNC:55995
Mus musculus TOMM20 MGD MGI:1915202
Canis familiaris TOMM20 VGNC VGNC:49025
Felis catus TOMM20 VGNC VGNC:82511
Others TOMM20 NCBI