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    TOMM5 translocase of outer mitochondrial membrane 5 [ Homo sapiens (human) ]

    Gene ID: 401505, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TOMM5provided by HGNC
    Official Full Name
    translocase of outer mitochondrial membrane 5provided by HGNC
    Primary source
    HGNC:HGNC:31369
    See related
    Ensembl:ENSG00000175768 MIM:616169; AllianceGenome:HGNC:31369
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Tom5; C9orf105; bA613M10.3
    Summary
    Predicted to be involved in protein targeting to mitochondrion. Located in mitochondrion. Part of mitochondrial outer membrane translocase complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 28.8), colon (RPKM 28.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TOMM5 in Genome Data Viewer
    Location:
    9p13.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (37588413..37592597, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (37612120..37616304, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (37588410..37592594, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 83 Neighboring gene RNA polymerase I subunit E Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37511563-37512119 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:37515395-37515896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28396 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19907 Neighboring gene F-box protein 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28399 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28400 Neighboring gene MPRA-validated peak7234 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28401 Neighboring gene Sharpr-MPRA regulatory region 11948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19910 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:37600233-37600415 Neighboring gene FERM and PDZ domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19911 Neighboring gene RAB1C, member RAS oncogene family (pseudogene) Neighboring gene RN7SK pseudogene 171

    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. 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
    2. Ubiquilins Chaperone and Triage Mitochondrial Membrane Proteins for Degradation. Itakura E, et al. Mol Cell, 2016 Jul 7. PMID 27345149, Free PMC Article
    3. Interaction of LATS1 with SMAC links the MST2/Hippo pathway with apoptosis in an IAP-dependent manner. García-Gutiérrez L, et al. Cell Death Dis, 2022 Aug 8. PMID 35941108, Free PMC Article
    4. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
    5. Therapeutic targeting of the USP2-E2F4 axis inhibits autophagic machinery essential for zinc homeostasis in cancer progression. Xiao W, et al. Autophagy, 2022 Nov. PMID 35253629, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    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

    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

    Process Evidence Code Pubs
    involved_in protein insertion into mitochondrial outer membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein targeting to mitochondrion IC
    Inferred by Curator
    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 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial import receptor subunit TOM5 homolog
    Names
    mitochondrial outer membrane protein TOM5
    translocase of outer mitochondrial membrane 5 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_001001790.3 → NP_001001790.1  mitochondrial import receptor subunit TOM5 homolog isoform 1

      See identical proteins and their annotated locations for NP_001001790.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the shortest isoform (1).
      Source sequence(s)
      BC029423, BC034247, DB451927
      Consensus CDS
      CCDS43803.1
      UniProtKB/Swiss-Prot
      B2DG07, F6S928, Q5JRT7, Q8N4H5
      Related
      ENSP00000313584.6, ENST00000321301.7
      Conserved Domains (1) summary
      pfam10642
      Location:1 → 50
      Tom5; Mitochondrial import receptor subunit or translocase

    2. NM_001134484.2 → NP_001127956.1  mitochondrial import receptor subunit TOM5 homolog isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate splice site at the 3' end of the first coding exon, compared to variant 1, which results in a protein (isoform 3) with a longer and distinct C-terminus when compared to isoform 1.
      Source sequence(s)
      BC029423, BM693831, DB451927
      Consensus CDS
      CCDS47968.1
      UniProtKB/TrEMBL
      F8W8Z9
      Related
      ENSP00000438204.1, ENST00000544379.1
      Conserved Domains (1) summary
      pfam15178
      Location:1 → 41
      TOM_sub5; Mitochondrial import receptor subunit TOM5 homolog

    3. NM_001134485.2 → NP_001127957.1  mitochondrial import receptor subunit TOM5 homolog isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate in-frame splice site at the 3' end of the first coding exon, compared to variant 1, which results in a protein (isoform 2) with 34 additional amino acids when compared to isoform 1.
      Source sequence(s)
      BC029423, DB451927
      Consensus CDS
      CCDS47967.1
      UniProtKB/Swiss-Prot
      Q8N4H5
      Related
      ENSP00000367004.5, ENST00000377773.9
      Conserved Domains (1) summary
      pfam15178
      Location:1 → 85
      TOM_sub5; Mitochondrial import receptor subunit TOM5 homolog

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      37588413..37592597 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      37612120..37616304 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N4H5.1 GenPept UniProtKB/Swiss-Prot:Q8N4H5

    Gene LinkOut

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

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