This gene encodes an import receptor of the outer mitochondrial membrane that is part of the translocase of the outer membrane complex. This protein is involved in the import of mitochondrial precursor proteins. [provided by RefSeq, Oct 2011] See more...

Aliases for TOMM70 Gene

Aliases for TOMM70 Gene

  • Translocase Of Outer Mitochondrial Membrane 70 2 3 5
  • Translocase Of Outer Mitochondrial Membrane Protein 70 3 4
  • Mitochondrial Precursor Proteins Import Receptor 3 4
  • Translocase Of Outer Membrane 70 KDa Subunit 3 4
  • Mitochondrial Import Receptor Subunit TOM70 3 4
  • KIAA0719 2 4
  • TOMM70A 3 4
  • Tom70 2 3
  • Translocase Of Outer Mitochondrial Membrane 70 Homolog A (S. Cerevisiae) 2
  • Translocase Of Outer Mitochondrial Membrane 70 (Yeast) Homolog A 2
  • Translocase Of Outer Mitochondrial Membrane 70 Homolog A (Yeast) 2
  • Translocase Of Outer Mitochondrial Membrane 70 Homolog A 3
  • TOMM70 5
  • TOM70 4

External Ids for TOMM70 Gene

Previous HGNC Symbols for TOMM70 Gene

  • TOMM70A

Summaries for TOMM70 Gene

Entrez Gene Summary for TOMM70 Gene

  • This gene encodes an import receptor of the outer mitochondrial membrane that is part of the translocase of the outer membrane complex. This protein is involved in the import of mitochondrial precursor proteins. [provided by RefSeq, Oct 2011]

GeneCards Summary for TOMM70 Gene

TOMM70 (Translocase Of Outer Mitochondrial Membrane 70) is a Protein Coding gene. Diseases associated with TOMM70 include Spastic Ataxia 5 and Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 1. Among its related pathways are Mitochondrial protein import and Deubiquitination. An important paralog of this gene is RPAP3.

UniProtKB/Swiss-Prot Summary for TOMM70 Gene

  • Acts as receptor of the preprotein translocase complex of the outer mitochondrial membrane (TOM complex). Recognizes and mediates the translocation of mitochondrial preproteins from the cytosol into the mitochondria in a chaperone dependent manner (PubMed:12526792). Mediates TBK1 and IRF3 activation induced by MAVS in response to Sendai virus infection and promotes host antiviral responses during virus infection (PubMed:20628368, PubMed:25609812). Upon Sendai virus infection, recruits HSP90AA1:IRF3:BAX in mitochondrion and the complex induces apoptosis (PubMed:25609812).

Gene Wiki entry for TOMM70 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TOMM70 Gene

Genomics for TOMM70 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TOMM70 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J100398 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 258.4 -0.4 -411 6.6 SP1 ZNF207 MYC ZNF600 SSRP1 ZNF580 ZNF592 KLF9 POLR2A NFIC LNP1 TOMM70 piR-54706 FILIP1L TFG TBC1D23
GH03J100333 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 18.2 +65.7 65694 3.4 ZNF207 MYC IKZF1 ZNF600 SSRP1 ZNF592 ZMYM3 POLR2A CEBPA YY1 NIT2 HSALNG0027563 HSALNG0027564 lnc-TOMM70-4 piR-30963-023 piR-52261-184 LNP1 TOMM70 TBC1D23
GH03J100608 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 5.8 -211.4 -211363 7.2 NCOR1 YY1 HOMEZ FOXA2 KDM6A RXRA ZNF511 TAL1 RARA JUND ADGRG7 TFG ENSG00000252989 SENP7 TOMM70 TMEM45A LNP1 HSALNG0027580
GH03J100590 Enhancer 0.9 ENCODE dbSUPER 10.3 -189.6 -189643 0.2 BCLAF1 ZNF654 CEBPA CTCF REST CEBPB DEK TRIM22 RAD21 RFX5 LNP1 TOMM70 HSALNG0027577 ADGRG7 HSALNG0027576 TMEM45A
GH03J100316 Enhancer 0.8 Ensembl ENCODE 10.6 +83.7 83704 1.7 ZNF654 ATF3 REST TRIM22 CTCF RXRA RAD21 SMC3 CBFB HNF4A LNP1 TOMM70 TFG TBC1D23 NONHSAG035594.2 lnc-TOMM70-4 NIT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TOMM70 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TOMM70

Genomic Locations for TOMM70 Gene

Latest Assembly
chr3:100,363,431-100,401,089
(GRCh38/hg38)
Size:
37,659 bases
Orientation:
Minus strand

Previous Assembly
chr3:100,082,275-100,119,933
(GRCh37/hg19 by Entrez Gene)
Size:
37,659 bases
Orientation:
Minus strand

chr3:100,082,275-100,120,242
(GRCh37/hg19 by Ensembl)
Size:
37,968 bases
Orientation:
Minus strand

Genomic View for TOMM70 Gene

Genes around TOMM70 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TOMM70 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TOMM70 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TOMM70 Gene

Proteins for TOMM70 Gene

  • Protein details for TOMM70 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94826-TOM70_HUMAN
    Recommended name:
    Mitochondrial import receptor subunit TOM70
    Protein Accession:
    O94826
    Secondary Accessions:
    • D3DN48

    Protein attributes for TOMM70 Gene

    Size:
    608 amino acids
    Molecular mass:
    67455 Da
    Quaternary structure:
    • Forms part of the preprotein translocase complex of the outer mitochondrial membrane (TOM complex) which consists of at least 7 different proteins (TOMM5, TOMM6, TOMM7, TOMM20, TOMM22, TOMM40 and TOMM70) (PubMed:18331822). Interacts with CAPN8 (By similarity). Interacts with TRADD, TRAF6 and STING (PubMed:20628368). Interacts with MAVS; the interaction is enhanced by Sendai virus infection (PubMed:20628368). Interacts with HSPA8 and HSP90AA1; both interactions are required for preprotein mitochondrial import (PubMed:12526792). The interaction with HSP90AA1 is direct and mediates the association of TOMM70 with IRF3 and TBK1 (PubMed:20628368, PubMed:25609812).
    • (Microbial infection) Interacts with SARS coronaviru/SARS-CoV and SARS coronavirus-2/SARS-CoV-2 virus protein ORF9b.
    SequenceCaution:
    • Sequence=BAA34439.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TOMM70 Gene

neXtProt entry for TOMM70 Gene

Post-translational modifications for TOMM70 Gene

  • Ubiquitination at Lys168 and Lys441
  • Modification sites at PhosphoSitePlus

Other Protein References for TOMM70 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TOMM70 Gene

Domains & Families for TOMM70 Gene

Protein Domains for TOMM70 Gene

Suggested Antigen Peptide Sequences for TOMM70 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57240, highly similar to Mitochondrial proteins import receptor (B4DZ87_HUMAN)
  • Translocase of outer membrane 70 kDa subunit (TOM70_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O94826

UniProtKB/Swiss-Prot:

TOM70_HUMAN :
  • Belongs to the Tom70 family.
Family:
  • Belongs to the Tom70 family.
genes like me logo Genes that share domains with TOMM70: view

Function for TOMM70 Gene

Molecular function for TOMM70 Gene

UniProtKB/Swiss-Prot Function:
Acts as receptor of the preprotein translocase complex of the outer mitochondrial membrane (TOM complex). Recognizes and mediates the translocation of mitochondrial preproteins from the cytosol into the mitochondria in a chaperone dependent manner (PubMed:12526792). Mediates TBK1 and IRF3 activation induced by MAVS in response to Sendai virus infection and promotes host antiviral responses during virus infection (PubMed:20628368, PubMed:25609812). Upon Sendai virus infection, recruits HSP90AA1:IRF3:BAX in mitochondrion and the complex induces apoptosis (PubMed:25609812).

Phenotypes From GWAS Catalog for TOMM70 Gene

Gene Ontology (GO) - Molecular Function for TOMM70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12526792
GO:0008320 protein transmembrane transporter activity TAS 15644312
GO:0030943 mitochondrion targeting sequence binding ISS --
genes like me logo Genes that share ontologies with TOMM70: view
genes like me logo Genes that share phenotypes with TOMM70: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOMM70

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TOMM70 Gene

Localization for TOMM70 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TOMM70 Gene

Mitochondrion outer membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TOMM70 gene
Compartment Confidence
mitochondrion 5
extracellular 4
cytosol 3
plasma membrane 2
cytoskeleton 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TOMM70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 20531390
GO:0005741 mitochondrial outer membrane TAS --
GO:0005742 mitochondrial outer membrane translocase complex TAS 15644312
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TOMM70: view

Pathways & Interactions for TOMM70 Gene

genes like me logo Genes that share pathways with TOMM70: view

Pathways by source for TOMM70 Gene

SIGNOR curated interactions for TOMM70 Gene

Activates:

Gene Ontology (GO) - Biological Process for TOMM70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002218 activation of innate immune response IDA 20628368
GO:0002230 positive regulation of defense response to virus by host IDA 20628368
GO:0006626 protein targeting to mitochondrion TAS 15644312
GO:0016236 macroautophagy TAS --
GO:0030150 protein import into mitochondrial matrix ISS --
genes like me logo Genes that share ontologies with TOMM70: view

Drugs & Compounds for TOMM70 Gene

No Compound Related Data Available

Transcripts for TOMM70 Gene

mRNA/cDNA for TOMM70 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOMM70

Alternative Splicing Database (ASD) splice patterns (SP) for TOMM70 Gene

No ASD Table

Relevant External Links for TOMM70 Gene

GeneLoc Exon Structure for
TOMM70

Expression for TOMM70 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TOMM70

Evidence on tissue expression from TISSUES for TOMM70 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Skin(4.5)
  • Blood(4.4)
  • Heart(2.8)
  • Muscle(2.6)
  • Kidney(2.5)
  • Intestine(2.3)
  • Eye(2.2)
No Expression Related Data Available

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TOMM70 Gene

Orthologs for TOMM70 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TOMM70 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TOMM70A 29 30
  • 99.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TOMM70A 29 30
  • 93.75 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TOMM70A 29 30
  • 93.48 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TOMM70A 30
  • 92 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TOMM70A 30
  • 92 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tomm70a 29
  • 88.96 (n)
Mouse
(Mus musculus)
Mammalia Tomm70a 29 16 30
  • 88.6 (n)
OneToOne
Chicken
(Gallus gallus)
Aves TOMM70A 29 30
  • 82.56 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TOMM70A 30
  • 94 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tomm70a 29
  • 76.47 (n)
Str.2314 29
African clawed frog
(Xenopus laevis)
Amphibia MGC68780 29
Zebrafish
(Danio rerio)
Actinopterygii tomm70a 29 30
  • 73.3 (n)
OneToOne
wufj58b04 29
Fruit Fly
(Drosophila melanogaster)
Insecta Tom70 29 30
  • 50.28 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009497 29
  • 49.91 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F24046g 29
  • 45.99 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOM70 29 30 32
  • 44.3 (n)
ManyToMany
TOM71 30
  • 15 (a)
ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ABR131W 29
  • 41.7 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1056 30
  • 49 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tom70 29
  • 47.2 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU04245 29
  • 44.29 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4827 29
Species where no ortholog for TOMM70 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TOMM70 Gene

ENSEMBL:
Gene Tree for TOMM70 (if available)
TreeFam:
Gene Tree for TOMM70 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TOMM70: view image
Alliance of Genome Resources:
Additional Orthologs for TOMM70

Paralogs for TOMM70 Gene

genes like me logo Genes that share paralogs with TOMM70: view

Variants for TOMM70 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TOMM70 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
870576 Uncertain Significance: TOMM70-related neurodevelopmental disorder 100,365,571(-) G/A
NM_014820.5(TOMM70):c.1820C>T (p.Thr607Ile)
MISSENSE
986786 Uncertain Significance: not provided 100,381,705(-) G/A
NM_014820.5(TOMM70):c.794C>T (p.Thr265Met)
MISSENSE
986787 Uncertain Significance: not provided 100,365,646(-) G/A
NM_014820.5(TOMM70):c.1745C>T (p.Ala582Val)
MISSENSE
rs79032648 Benign: not provided 100,377,852(-) A/G
NM_014820.5(TOMM70):c.945T>C (p.Ser315=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TOMM70 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TOMM70 Gene

Variant ID Type Subtype PubMed ID
esv2725694 CNV deletion 23290073
esv3309821 CNV mobile element insertion 20981092
esv3429571 CNV insertion 20981092

Variation tolerance for TOMM70 Gene

Residual Variation Intolerance Score: 17.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.52; 11.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TOMM70 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOMM70
Leiden Open Variation Database (LOVD)
TOMM70

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOMM70 Gene

Disorders for TOMM70 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TOMM70 Gene - From: COP

Additional Disease Information for TOMM70

genes like me logo Genes that share disorders with TOMM70: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TOMM70 Gene

Publications for TOMM70 Gene

  1. Identification of a mammalian homologue of the fungal Tom70 mitochondrial precursor protein import receptor as a thyroid hormone-regulated gene in specific brain regions. (PMID: 10582581) Alvarez-Dolado M … Muñoz A (Journal of neurochemistry 1999) 2 3 22
  2. Comparative host-coronavirus protein interaction networks reveal pan-viral disease mechanisms. (PMID: 33060197) Gordon DE … Krogan NJ (Science (New York, N.Y.) 2020) 3 4
  3. Tom70 mediates Sendai virus-induced apoptosis on mitochondria. (PMID: 25609812) Wei B … Wang C (Journal of virology 2015) 3 4
  4. Tom70 mediates activation of interferon regulatory factor 3 on mitochondria. (PMID: 20628368) Liu XY … Wang C (Cell research 2010) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for TOMM70 Gene

Sources for TOMM70 Gene