Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

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

    Gene ID: 10452, updated on 7-May-2017
    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; Vega:OTTHUMG00000180842
    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]
    Orthologs
    Location:
    19q13.32
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (44891220..44903689)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45394477..45406946)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene basal cell adhesion molecule (Lutheran blood group) Neighboring gene nectin cell adhesion molecule 2 Neighboring gene apolipoprotein E Neighboring gene apolipoprotein C1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
    NHGRI GWA Catalog
    A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.
    NHGRI GWA Catalog
    A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.
    NHGRI GWA Catalog
    A genome-wide scan for common variants affecting the rate of age-related cognitive decline.
    NHGRI GWA Catalog
    ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.
    NHGRI GWA Catalog
    APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
    NHGRI GWA Catalog
    Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?
    NHGRI GWA Catalog
    Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
    NHGRI GWA Catalog
    Examination of the current top candidate genes for AD in a genome-wide association study.
    NHGRI GWA Catalog
    Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.
    NHGRI GWA Catalog
    Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
    NHGRI GWA Catalog
    Genome-wide analysis of genetic loci associated with Alzheimer disease.
    NHGRI GWA Catalog
    Genome-wide association analysis of age-at-onset in Alzheimer's disease.
    NHGRI GWA Catalog
    Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
    NHGRI GWA Catalog
    Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.
    NHGRI GWA Catalog
    Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study.
    NHGRI GWA Catalog
    Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
    NHGRI GWA Catalog
    Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited.
    NHGRI GWA Catalog
    Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.
    NHGRI GWA Catalog
    Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.
    NHGRI GWA Catalog
    Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
    NHGRI GWA Catalog
    Genome-wide association study of Alzheimer's disease with psychotic symptoms.
    NHGRI GWA Catalog
    Genome-wide association study of Alzheimer's disease.
    NHGRI GWA Catalog
    Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort.
    NHGRI GWA Catalog
    Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
    NHGRI GWA Catalog
    Genome-wide scan of copy number variation in late-onset Alzheimer's disease.
    NHGRI GWA 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.
    NHGRI GWA Catalog
    GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.
    NHGRI GWA Catalog
    Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
    NHGRI GWA Catalog
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    NHGRI GWA Catalog
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    NHGRI GWA Catalog
    Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.
    NHGRI GWA Catalog
    Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.
    NHGRI GWA Catalog
    SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.
    NHGRI GWA Catalog
    The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    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

    • Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from KEGG)
      Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
    • Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from WikiPathways)
      Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
    • Amyotrophic lateral sclerosis (ALS), conserved biosystem (from KEGG)
      Amyotrophic lateral sclerosis (ALS), conserved biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Mitochondrial protein import, organism-specific biosystem (from REACTOME)
      Mitochondrial protein import, organism-specific biosystemA human mitochondrion contains about 1500 proteins, more than 99% of which are encoded in the nucleus, synthesized in the cytosol and imported into the mitochondrion. Proteins are targeted to four lo...
    • Mitophagy, organism-specific biosystem (from REACTOME)
      Mitophagy, organism-specific biosystemMitophagy is a specific form of autophagy where mitochondria are specifically targeted for degradation by autophagolysosomes.. In mammals there are a number of known mechanisms of mitophagy. One insu...
    • Pink/Parkin Mediated Mitophagy, organism-specific biosystem (from REACTOME)
      Pink/Parkin Mediated Mitophagy, organism-specific biosystemThis is the process of selective removal of damaged mitochondria by autophagosomes and subsequent catabolism by lysosomes. In healthy mitochondria, PINK1 is imported to the inner mitochondrial membra...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    porin activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    macroautophagy TAS
    Traceable Author Statement
    more info
     
    protein import into mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein targeting to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrial outer membrane translocase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    NOT mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pore complex IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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
      5001..17470
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001128916.1NP_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
      O96008
      Related
      ENSP00000385184.2, ENST00000405636.6
      Conserved Domains (1) summary
      cd07305
      Location:77361
      Porin3_Tom40; Translocase of outer mitochondrial membrane 40 (Tom40)
    2. NM_001128917.1NP_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
      O96008
      Related
      ENSP00000410339.1, OTTHUMP00000265447, ENST00000426677.6, OTTHUMT00000453241
      Conserved Domains (1) summary
      cd07305
      Location:77361
      Porin3_Tom40; Translocase of outer mitochondrial membrane 40 (Tom40)
    3. NM_006114.2NP_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, BP265648
      Consensus CDS
      CCDS12646.1
      UniProtKB/Swiss-Prot
      O96008
      Related
      ENSP00000252487.4, OTTHUMP00000265445, ENST00000252487.9, OTTHUMT00000453239
      Conserved Domains (1) summary
      cd07305
      Location:77361
      Porin3_Tom40; Translocase of outer mitochondrial membrane 40 (Tom40)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      44891220..44903689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258411.3XP_005258468.1  mitochondrial import receptor subunit TOM40 homolog isoform X1

      Conserved Domains (1) summary
      cd07305
      Location:77316
      Porin3_Tom40; Translocase of outer mitochondrial membrane 40 (Tom40)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      45397251..45409700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center