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

Gene ID: 54543, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:21648
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; GMPGS
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
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Genomic context

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Location:
7p15.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (22812974..22822849, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (22948907..22958779, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (22852593..22862468, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene MT-CYB pseudogene 42 Neighboring gene ribosomal protein S26 pseudogene 32 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:22821663-22822163 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:22839818-22840719 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:22841621-22842521 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:22850833-22851788 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:22861949-22862709 Neighboring gene uncharacterized LOC112267993 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:22883323-22883823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18004 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:22894231-22894842 Neighboring gene small nucleolar RNA host gene 26 Neighboring gene small nucleolar RNA, C/D box 93

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Cloning and characterization of the human novel gene encoding 6.2 kDa protein highly expressed upon ultraviolet irradiation in DNA-PK-deleted human glioma M059J cells. Lee JS. DNA Seq, 1999. PMID 10647823
  2. The receptor subunit Tom20 is dynamically associated with the TOM complex in mitochondria of human cells. Bhagawati M, et al. Mol Biol Cell, 2021 Oct 1. PMID 34347503, Free PMC Article
  3. Reciprocal Roles of Tom7 and OMA1 during Mitochondrial Import and Activation of PINK1. Sekine S, et al. Mol Cell, 2019 Mar 7. PMID 30733118
  4. Insertion and assembly of human tom7 into the preprotein translocase complex of the outer mitochondrial membrane. Johnston AJ, et al. J Biol Chem, 2002 Nov 1. PMID 12198123
  5. Identification of Tom5 and Tom6 in the preprotein translocase complex of human mitochondrial outer membrane. Kato H, et al. Biochem Biophys Res Commun, 2008 May 9. PMID 18331822

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The receptor subunit Tom20 is dynamically associated with the TOM complex in mitochondria of human cells.
    Title: The receptor subunit Tom20 is dynamically associated with the TOM complex in mitochondria of human cells.
  2. 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.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  4. 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.
  5. 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.
  6. 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.
Submit: New GeneRIF Correction

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
Garg-Mishra progeroid syndrome
MedGen: CN375812 OMIM: 620601 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 IBA
Inferred from Biological aspect of Ancestor
more info
  
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 insertion into mitochondrial outer membrane NAS
Non-traceable Author Statement
more info
 PubMed 
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
part_of TOM complex NAS
Non-traceable Author Statement
more info
 PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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)

  1. 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
    O95939, Q9P0U1
    UniProtKB/TrEMBL
    Q75MR5
    Related
    ENSP00000351214.4, ENST00000358435.9
    Conserved Domains (1) summary
    pfam08038
    Location:9 → 53
    Tom7; TOM7 family

RNA

  1. NR_168014.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005682

  2. NR_168015.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005682

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    22812974..22822849 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    22948907..22958779 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P0U1.1 GenPept UniProtKB/Swiss-Prot:Q9P0U1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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