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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TOMM40L Gene

protein-coding   GIFtS: 49
GCID: GC01P161195

translocase of outer mitochondrial membrane 40 homolog (yeast)-like

(Previous name: translocase of outer mitochondrial membrane 40 homolog-like...)
 Explore 3 diseases affiliated with
TOMM40L via our new
 Human Malady Compendium 
Biological research products
for TOMM40L
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Translocase Of Outer Mitochondrial Membrane 40 Homolog (Yeast)-Like1 2     Translocase Of Outer Mitochondrial Membrane 40 Homolog-Like (Yeast)1
TOMM40B1 2 3     RP11-297K8.102
Protein TOMM40-Like2 3     Mitochondrial Import Receptor Subunit TOM40B2
FLJ127701     Translocase Of Outer Mitochondrial Membrane 40 Homolog-Like2

External Ids:    HGNC: 257561   Entrez Gene: 841342   Ensembl: ENSG000001588827   UniProtKB: Q969M13   

Export aliases for TOMM40L gene to outside databases

Previous GC identifers: GC01P158009 GC01P159462 GC01P132552


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: TM40L_HUMAN, Q969M1
Function: Potential channel-forming protein implicated in import of protein precursors into mitochondria (By
similarity)

Gene Wiki entry for TOMM40L


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TOMM40L gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-2   LCR-F1   C/EBPalpha   CREB   E2F   E2F-1   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTOMM40L promoter sequence
   Search SABiosciences Chromatin IP Primers for TOMM40L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TOMM40L


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q23.3   Ensembl cytogenetic band:  1q23.3   HGNC cytogenetic band: 1q23.3

TOMM40L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TOMM40L gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P161195:  view genomic region     (about GC identifiers)

Start:
161,195,793 bp from pter      End:
161,200,408 bp from pter
Size:
4,616 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TM40L_HUMAN, Q969M1 (See protein sequence)
Recommended Name: Mitochondrial import receptor subunit TOM40B  
Size: 308 amino acids; 33917 Da
Subunit: Forms part of the preprotein translocase of the outer mitochondrial membrane (TOM complex) containing TOMM22,
TOMM40, TOMM40L and TOMM70. Interacts with mitochondrial targeting sequences (By similarity)
Subcellular location: Mitochondrion outer membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: D3DVG9

Explore the universe of human proteins at neXtProt for TOMM40L: NX_Q969M1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q969M1

  • TOMM40L Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_115550.2  
    ENSEMBL proteins: 
     ENSP00000356967   ENSP00000356966   ENSP00000443233  

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    Novus Biologicals TOMM40L Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TOMM40L

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005741mitochondrial outer membrane IEA--
    GO:0043234protein complex IDA--
    GO:0046930pore complex IEA--


    TOMM40L for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TOMM40L for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR027246 Porin_Euk/Tom40
     IPR023614 Porin_dom

    Graphical View of Domain Structure for InterPro Entry Q969M1

    ProtoNet protein and cluster: Q969M1

    UniProtKB/Swiss-Prot: TM40L_HUMAN, Q969M1
    Similarity: Belongs to the Tom40 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: TM40L_HUMAN, Q969M1
    Function: Potential channel-forming protein implicated in import of protein precursors into mitochondria (By
    similarity)

    miRNA
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    8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate TOMM40L (see all 28):
    hsa-miR-148b* hsa-miR-875-3p hsa-miR-4286 hsa-miR-185* hsa-miR-330-5p hsa-miR-877* hsa-miR-4314 hsa-miR-654-5p
    SwitchGear 3'UTR luciferase reporter plasmidTOMM40L 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0008308voltage-gated anion channel activity IEA--
    GO:0015288porin activity IEA--


    TOMM40L for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for TOMM40L:
     Increased gamma-H2AX phosphory 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Pathogenesis of ALS
    Amyotrophic lateral sclerosis (ALS)0.30

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for TOMM40L):
        Amyotrophic lateral sclerosis (ALS)


    TOMM40L for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TOMM40L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/19 Interacting proteins for TOMM40L (ENSP000003569664) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARHGEF10LENSP000003550604STRING: ENSP00000355060
    ATPAF1ENSP000003610054STRING: ENSP00000361005
    C1orf146ENSP000003594014STRING: ENSP00000359401
    FAM132AENSP000003291374STRING: ENSP00000329137
    FAM163AENSP000003548914STRING: ENSP00000354891
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--
    GO:0015031protein transport IEA--


    TOMM40L for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TOMM40L
    Search CenterWatch for drugs/clinical trials and news about TOMM40L / TM40L 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TOMM40L gene: 
    NM_032174.4  

    Unigene Cluster for TOMM40L:

    Translocase of outer mitochondrial membrane 40 homolog (yeast)-like
    Hs.321653  [show with all ESTs]
    Unigene Representative Sequence: BX537951
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367988(uc010pkk.1 uc010pkl.1 uc001fzd.3 uc009wue.3 uc009wuf.2)
    ENST00000474486 ENST00000470426 ENST00000465512 ENST00000492482 ENST00000367987(uc001fze.3)
    ENST00000468803 ENST00000475793 ENST00000545897

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TOMM40L
    8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate TOMM40L (see all 28):
    hsa-miR-148b* hsa-miR-875-3p hsa-miR-4286 hsa-miR-185* hsa-miR-330-5p hsa-miR-877* hsa-miR-4314 hsa-miR-654-5p
    SwitchGear 3'UTR luciferase reporter plasmidTOMM40L 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK022832.1 AK027704.1 AK297831.1 AK297848.1 BC014946.1 BX537951.1 

    16 DOTS entries:

    DT.118466  DT.100764886  DT.121424518  DT.100837321  DT.121424515  DT.121424509  DT.100743821  DT.92431328 
    DT.92431329  DT.95275300  DT.121424572  DT.95275299  DT.100764884  DT.121424716  DT.121424516  DT.75170204 

    24/151 AceView cDNA sequences (see all 151):

    BM917040 AW028065 AK022832 AA773321 BE295655 BE262030 BQ646811 CB989817 
    AK027704 BQ643880 Z45632 BQ684804 BU168678 BM772356 AA987535 AA085370 
    AI096402 Z42823 AI080696 AI081566 BU619497 BX537951 Z38960 BQ231143 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for TOMM40L    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
    SP1:                                                                                    
    SP2:                                                                                    
    SP3:                                                                                    
    SP4:        -                                                                           


    ECgene alternative splicing isoforms for TOMM40L

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TOMM40L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCACACAAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See TOMM40L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TOMM40L

    SOURCE GeneReport for Unigene cluster: Hs.321653
        SABiosciences Expression via Pathway-Focused PCR Array including TOMM40L: 
              Mitochondria in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOMM40L

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TOMM40L gene from 7/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TOMM40L1 translocase of outer mitochondrial membrane 40 homolog more 75.6(n)
    84.06(a)
      426278  XM_423941.3  XP_423941.3 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-71l1.11 si:dkey-71l1.1 63.37(n)
    62.12(a)
      569883  NM_001114438.1  NP_001107910.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tomboy406
    Tom406
    (see all 3)
    Translocase of outer membrane 40
    (see all 3)
    40(a)
    38(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    2R(2113132-2114389)
    X(7630926-7634011)
    worm
    (Caenorhabditis elegans)
    Secernentea tomm-406
    Mitochondrial import receptor subunit TOM40 homolo...
    41(a)
    1 → many
    II(8971896-8973504)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TOM40(YMR203W)4
    TOM401
    Component of the TOM (translocase of outer membrane) more4
    Tom40p1
    41.4(n)1
    29.24(a)1
      13(668492-669655)4
    8552431, 4  NP_013930.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TOM401 mitochondrial import receptor subunit TOM40-1 43.55(n)
    31.02(a)
      821538  NM_112890.4  NP_188634.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g03238001 hypothetical protein 44.04(n)
    31.75(a)
      4332694  NM_001056510.1  NP_001049975.1 


    ENSEMBL Gene Tree for TOMM40L (if available)
    TreeFam Gene Tree for TOMM40L (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TOMM40L gene
    TOMM402  
    1 SIMAP similar gene for TOMM40L using alignment to 3 protein entries:     TM40L_HUMAN (see all proteins):
    TOMM40

    TOMM40L for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/73 NCBI SNPs in TOMM40L are shown (see all 73    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1140544571,2
    --161195483(+) AGGAGC/TTTCAG 2 -- us2k11Minor allele frequency- T:0.01NA 120
    rs1928179561,2
    --161195553(+) CCTTGG/TAGAGG 2 -- us2k10--------
    rs786957151,2
    F,--161195964(+) TTGGGG/ACCTGG 2 -- int1 us2k11Minor allele frequency- A:0.03WA 118
    rs1850670291,2
    C,--161196038(+) AGGGAA/GANNNN 2 -- us2k1 int10--------
    rs753979021,2
    F,--161196063(+) TGGGGG/ATGAGA 2 -- us2k1 int11Minor allele frequency- A:0.03WA 118
    rs38136281,2
    C,F,H,--161196166(+) TGTGGA/CAGTTT 2 -- us2k1 ut51 ese323Minor allele frequency- C:0.39EA NA NS WA 3782
    rs1894483431,2
    --161196225(+) AAGGGA/GCAATA 2 -- ut51 us2k10--------
    rs1809819151,2
    C,--161196312(+) ATGGGG/TACTTT 3 G us2k1 syn10--------
    rs2014503811,2
    --161196323(+) GCCCCG/TCCGGA 3 R L mis1 us2k10--------
    rs1396266731,2
    C,--161196386(+) CCGTCT/CATGCA 3 /P /L mis1 us2k11Minor allele frequency- C:0.00NA 4434

    HapMap Linkage Disequilibrium report for TOMM40L (161195793 - 161200408 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TOMM40L: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TOMM40L
    DNA2.0 Custom Variant and Variant Library Synthesis for TOMM40L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TOMM40L for disorders           About GeneDecksing

    3 diseases for TOMM40L:    About MalaCards
    amyotrophic lateral sclerosis (als)    amyotrophic lateral sclerosis    lateral sclerosis

    Human Genome Epidemiology (HuGE) Navigator: TOMM40L (1 document)

    Export disorders for TOMM40L gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TOMM40L gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with TOMM40L)
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    1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    6. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    7. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    9. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84134 HGNC: 25756 AceView: FLJ12770 Ensembl:ENSG00000158882 euGenes: HUgn84134
    ECgene: TOMM40L Kegg: 84134 H-InvDB: TOMM40L

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TOMM40L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TOMM40L gene:
    Search GeneIP for patents involving TOMM40L

    GeneCards and IP:
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