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

Gene ID: 401505, updated on 27-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
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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
  • 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)

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

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