TOMM70 translocase of outer mitochondrial membrane 70 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TOMM70provided by HGNC
Official Full Name: translocase of outer mitochondrial membrane 70provided by HGNC
Primary source: HGNC:HGNC:11985
See related: Ensembl:ENSG00000154174 MIM:606081; AllianceGenome:HGNC:11985
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Tom70; TOMM70A
Summary: 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. The protein interacts with the SARS-CoV and SARS-Cov-2 ORF9b proteins. [provided by RefSeq, Dec 2021]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
Expression: Ubiquitous expression in brain (RPKM 23.1), thyroid (RPKM 20.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q12.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (100363431..100401089, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (103068774..103106448, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (100082275..100119933, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Orf9b protein of SARS-CoV-2 modulates mitochondrial protein biogenesis.
Title: The Orf9b protein of SARS-CoV-2 modulates mitochondrial protein biogenesis.
Mitochondria shed their outer membrane in response to infection-induced stress.
Title: Mitochondria shed their outer membrane in response to infection-induced stress.
Relation between ORF8a and the mitochondrial protein TOM70 in SARS-CoV-2 infection.
Title: Relation between ORF8a and the mitochondrial protein TOM70 in SARS-CoV-2 infection.
Phosphorylation of SARS-CoV-2 Orf9b Regulates Its Targeting to Two Binding Sites in TOM70 and Recruitment of Hsp90.
Title: Phosphorylation of SARS-CoV-2 Orf9b Regulates Its Targeting to Two Binding Sites in TOM70 and Recruitment of Hsp90.
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.
Title: De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.
Crystal structure of SARS-CoV-2 Orf9b in complex with human TOM70 suggests unusual virus-host interactions.
Title: Crystal structure of SARS-CoV-2 Orf9b in complex with human TOM70 suggests unusual virus-host interactions.
Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay.
Title: Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay.
SARS-CoV-2 Orf9b suppresses type I interferon responses by targeting TOM70.
Title: SARS-CoV-2 Orf9b suppresses type I interferon responses by targeting TOM70.
TOM70, but not TOM20, clusters in distinct OMM foci, frequently overlapping with sites in which the endoplasmic reticulum (ER) contacts mitochondria. Functionally, TOM70 depletion specifically impairs inositol trisphosphates (IP3)-linked ER to mitochondria Ca(2+) transfer. This phenomenon is dependent on the capacity of TOM70 to interact with IP3-receptors and favor their functional recruitment close to mitochondria.
Title: TOM70 Sustains Cell Bioenergetics by Promoting IP3R3-Mediated ER to Mitochondria Ca(2+) Transfer.
Collectively, this study characterizes a novel protein complex, Tom70/Hsp90/IRF3/Bax, that is important for Sendai virus-induced apoptosis.
Title: Tom70 mediates Sendai virus-induced apoptosis on mitochondria.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of translocase of outer mitochondrial membrane 70 homolog A (TOMM70A) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Bda09a02 (e-PCR)
- UniSTS:23831

RH47396 (e-PCR)
- UniSTS:38464

RH94012 (e-PCR)
- UniSTS:88671

RH91974 (e-PCR)
- UniSTS:92898

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables mitochondrion targeting sequence binding	IBA Inferred from Biological aspect of Ancestor more info
enables mitochondrion targeting sequence binding	ISS Inferred from Sequence or Structural Similarity more info
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to protein transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to protein transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell growth involved in cardiac muscle cell development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of defense response to virus by host	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interferon-beta production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein targeting to mitochondrion	IEA Inferred from Electronic Annotation more info
involved_in protein import into mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein import into mitochondrial matrix	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein insertion into mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein insertion into mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein insertion into mitochondrial outer membrane	NAS Non-traceable Author Statement more info	PubMed
involved_in protein targeting to mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein targeting to mitochondrion	TAS Traceable Author Statement more info	PubMed
involved_in regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in response to thyroxine	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of TOM complex	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
is_active_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial outer membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
part_of mitochondrial outer membrane translocase complex	ISS Inferred from Sequence or Structural Similarity more info
part_of mitochondrial outer membrane translocase complex	TAS Traceable Author Statement more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: mitochondrial import receptor subunit TOM70

Names: mitochondrial precursor proteins import receptor; translocase of outer membrane 70 kDa subunit; translocase of outer mitochondrial membrane 70 homolog A; translocase of outer mitochondrial membrane protein 70

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_014820.5 → NP_055635.3 mitochondrial import receptor subunit TOM70

See identical proteins and their annotated locations for NP_055635.3

Status: REVIEWED

Source sequence(s)

AB018262, AC093003, AW044465, BC065555

Consensus CDS

CCDS33807.1

UniProtKB/Swiss-Prot

D3DN48, O94826

UniProtKB/TrEMBL

B4DZ87

Related

ENSP00000284320.5, ENST00000284320.6

Conserved Domains (2) summary

TIGR00990
Location:41 → 601

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

sd00006
Location:114 → 142

TPR; TPR repeat [structural motif]