TOMM7 translocase of outer mitochondrial membrane 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TOMM7provided by HGNC
Official Full Name: translocase of outer mitochondrial membrane 7provided by HGNC
Primary source: HGNC:HGNC:21648
See related: Ensembl:ENSG00000196683 MIM:607980
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: TOM7
Summary: This gene encodes a subunit of the translocase of the outer mitochondrial membrane. The encoded protein regulates the assembly and stability of the translocase complex. [provided by RefSeq, Oct 2012]
Expression: Ubiquitous expression in ovary (RPKM 141.3), fat (RPKM 120.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p15.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	7	NC_000007.14 (22812974..22822849, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (22852593..22862468, complement)

Chromosome 7 - NC_000007.14 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?

Mitochondrial membrane potential loss-dependent PINK1 import arrest does not result solely from Tim23 inactivation but also through an actively regulated "tug of war" between Tom7 and OMA1.
Title: Reciprocal Roles of Tom7 and OMA1 during Mitochondrial Import and Activation of PINK1.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
The human counterparts of Tom5 and Tom6, together with the other components including Tom7, were identified in the preprotein translocase complex.
Title: Identification of Tom5 and Tom6 in the preprotein translocase complex of human mitochondrial outer membrane.
Levels of Tom22 in mitochondria accelerate the rate of Tom7 assembly into the mature TOM complex.
Title: Insertion and assembly of human tom7 into the preprotein translocase complex of the outer mitochondrial membrane.

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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

Associated conditions

Description	Tests
Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-W61113 (e-PCR)
- UniSTS:13535

RH41930 (e-PCR)
- UniSTS:89334

Homology

Homologs of the TOMM7 gene: The TOMM7 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and chicken.
Orthologs from Annotation Pipeline: 357 organisms have orthologs with human gene TOMM7
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of mitophagy in response to mitochondrial depolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein targeting to mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein import into mitochondrial matrix	IEA Inferred from Electronic Annotation more info
involved_in protein targeting to mitochondrion	TAS Traceable Author Statement more info	PubMed
involved_in regulation of protein stability	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in integral component of membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
part_of mitochondrial outer membrane translocase complex	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial outer membrane translocase complex	TAS Traceable Author Statement 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 TOM7 homolog

Names: translocase of outer membrane 7 kDa subunit homolog; translocase of outer mitochondrial membrane 7 homolog

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_019059.5 → NP_061932.1 mitochondrial import receptor subunit TOM7 homolog

See identical proteins and their annotated locations for NP_061932.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and is the protein-coding variant.

Source sequence(s)

AC005682

Consensus CDS

CCDS5376.1

UniProtKB/Swiss-Prot

Q9P0U1

UniProtKB/TrEMBL

Q75MR5

Related

ENSP00000351214.4, ENST00000358435.9

Conserved Domains (1) summary

pfam08038
Location:9 → 53

Tom7; TOM7 family