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

    Gene ID: 54543, updated on 2-Nov-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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    See TOMM7 in Genome Data Viewer
    Location:
    7p15.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (22812974..22822849, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (22948907..22958779, complement)
    RS_2024_09 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 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 (24) 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: C5882717 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 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 positive regulation of type 2 mitophagy 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 HTP 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_2024_08

    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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