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    TOMM40 translocase of outer mitochondrial membrane 40 [ Homo sapiens (human) ]

    Gene ID: 10452, updated on 17-Jun-2024

    Summary

    Official Symbol
    TOMM40provided by HGNC
    Official Full Name
    translocase of outer mitochondrial membrane 40provided by HGNC
    Primary source
    HGNC:HGNC:18001
    See related
    Ensembl:ENSG00000130204 MIM:608061; AllianceGenome:HGNC:18001
    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
    TOM40; PEREC1; C19orf1; PER-EC1; D19S1177E
    Summary
    The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
    Expression
    Ubiquitous expression in colon (RPKM 13.7), esophagus (RPKM 12.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TOMM40 in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (44891254..44903689)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (47715975..47728385)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45394511..45406946)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45315534-45316080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45316732-45317264 Neighboring gene Sharpr-MPRA regulatory region 5395 Neighboring gene basal cell adhesion molecule (Lutheran blood group) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10741 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10743 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45351264-45352246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45353716-45354627 Neighboring gene nectin cell adhesion molecule 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45382143-45382992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45382993-45383842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45383843-45384692 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45388007-45388506 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45388826-45389326 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45393067-45393568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14774 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10744 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45408370-45409172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45409975-45410777 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45415901-45416660 Neighboring gene APOC1 promoter region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45418179-45418936 Neighboring gene apolipoprotein E Neighboring gene apolipoprotein C1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
    EBI GWAS Catalog
    A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.
    EBI GWAS Catalog
    A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.
    EBI GWAS Catalog
    A genome-wide scan for common variants affecting the rate of age-related cognitive decline.
    EBI GWAS Catalog
    ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.
    EBI GWAS Catalog
    APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
    EBI GWAS Catalog
    Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?
    EBI GWAS Catalog
    Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
    EBI GWAS Catalog
    Examination of the current top candidate genes for AD in a genome-wide association study.
    EBI GWAS Catalog
    Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.
    EBI GWAS Catalog
    Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
    EBI GWAS Catalog
    Genome-wide analysis of genetic loci associated with Alzheimer disease.
    EBI GWAS Catalog
    Genome-wide association analysis of age-at-onset in Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
    EBI GWAS Catalog
    Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.
    EBI GWAS Catalog
    Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study.
    EBI GWAS Catalog
    Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
    EBI GWAS Catalog
    Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited.
    EBI GWAS Catalog
    Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
    EBI GWAS Catalog
    Genome-wide association study of Alzheimer's disease with psychotic symptoms.
    EBI GWAS Catalog
    Genome-wide association study of Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort.
    EBI GWAS Catalog
    Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
    EBI GWAS Catalog
    Genome-wide scan of copy number variation in late-onset Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
    EBI GWAS Catalog
    GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.
    EBI GWAS Catalog
    Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
    EBI GWAS Catalog
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    EBI GWAS Catalog
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    EBI GWAS Catalog
    Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.
    EBI GWAS Catalog
    Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.
    EBI GWAS Catalog
    SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.
    EBI GWAS Catalog
    The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 encephalitis infection upregulates TOM20 and TOM40 protein levels in post-mortem brain samples PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 Env (gp120) upregulates TOM20 and TOM40 protein levels in transgenic mouse neurons PubMed
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 is identified to have a physical interaction with translocase of outer mitochondrial membrane 40 homolog (TOMM40) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables porin activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein import into mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein insertion into mitochondrial outer membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein targeting to mitochondrion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in protein targeting to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein targeting to mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of TOM complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondria-associated endoplasmic reticulum membrane contact site IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    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 IDA
    Inferred from Direct Assay
    more info
     
    NOT located_in mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of pore complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    mitochondrial import receptor subunit TOM40 homolog
    Names
    mitochondrial outer membrane protein
    p38.5
    protein Haymaker
    translocase of outer membrane 40 kDa subunit homolog
    translocase of outer mitochondrial membrane 40 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_042854.1 RefSeqGene

      Range
      5035..17470
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001128916.2NP_001122388.1  mitochondrial import receptor subunit TOM40 homolog

      See identical proteins and their annotated locations for NP_001122388.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      BC012134, BC017224, BP265648
      Consensus CDS
      CCDS12646.1
      UniProtKB/Swiss-Prot
      A0A024R0P9, O96008, Q86VW4, Q8WY09, Q8WY10, Q8WY11, Q9BR95
      Related
      ENSP00000385184.2, ENST00000405636.6
      Conserved Domains (1) summary
      cd07305
      Location:77361
      Porin3_Tom40; Translocase of outer mitochondrial membrane 40 (Tom40)
    2. NM_001128917.2NP_001122389.1  mitochondrial import receptor subunit TOM40 homolog

      See identical proteins and their annotated locations for NP_001122389.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1-3 encode the same protein.
      Source sequence(s)
      BC001779, BC017224, BP265648
      Consensus CDS
      CCDS12646.1
      UniProtKB/Swiss-Prot
      A0A024R0P9, O96008, Q86VW4, Q8WY09, Q8WY10, Q8WY11, Q9BR95
      Related
      ENSP00000410339.1, ENST00000426677.7
      Conserved Domains (1) summary
      cd07305
      Location:77361
      Porin3_Tom40; Translocase of outer mitochondrial membrane 40 (Tom40)
    3. NM_006114.3NP_006105.1  mitochondrial import receptor subunit TOM40 homolog

      See identical proteins and their annotated locations for NP_006105.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AF043250, BC017224
      Consensus CDS
      CCDS12646.1
      UniProtKB/Swiss-Prot
      A0A024R0P9, O96008, Q86VW4, Q8WY09, Q8WY10, Q8WY11, Q9BR95
      Related
      ENSP00000252487.4, ENST00000252487.9
      Conserved Domains (1) summary
      cd07305
      Location:77361
      Porin3_Tom40; Translocase of outer mitochondrial membrane 40 (Tom40)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      44891254..44903689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258411.5XP_005258468.1  mitochondrial import receptor subunit TOM40 homolog isoform X1

      Related
      ENSP00000466084.1, ENST00000592434.5
      Conserved Domains (1) summary
      cd07305
      Location:77316
      Porin3_Tom40; Translocase of outer mitochondrial membrane 40 (Tom40)
    2. XM_047438057.1XP_047294013.1  mitochondrial import receptor subunit TOM40 homolog isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      47715975..47728385
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319534.1XP_054175509.1  mitochondrial import receptor subunit TOM40 homolog isoform X1

    2. XM_054319535.1XP_054175510.1  mitochondrial import receptor subunit TOM40 homolog isoform X1