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O96008

- TOM40_HUMAN

UniProt

O96008 - TOM40_HUMAN

Protein

Mitochondrial import receptor subunit TOM40 homolog

Gene

TOMM40

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
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    Functioni

    Channel-forming protein essential for import of protein precursors into mitochondria.By similarity

    GO - Molecular functioni

    1. porin activity Source: UniProtKB-KW
    2. protein transmembrane transporter activity Source: BHF-UCL

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. ion transport Source: UniProtKB-KW
    3. protein targeting to mitochondrion Source: UniProtKB
    4. protein transmembrane transport Source: GOC

    Keywords - Molecular functioni

    Porin

    Keywords - Biological processi

    Ion transport, Protein transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_118595. Mitochondrial protein import.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Mitochondrial import receptor subunit TOM40 homolog
    Alternative name(s):
    Protein Haymaker
    Translocase of outer membrane 40 kDa subunit homolog
    p38.5
    Gene namesi
    Name:TOMM40
    Synonyms:C19orf1, PEREC1, TOM40
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:18001. TOMM40.

    Subcellular locationi

    Mitochondrion outer membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. integral component of membrane Source: BHF-UCL
    3. integral component of mitochondrial outer membrane Source: BHF-UCL
    4. mitochondrial outer membrane translocase complex Source: BHF-UCL
    5. pore complex Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion outer membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38274.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 361361Mitochondrial import receptor subunit TOM40 homologPRO_0000051523Add
    BLAST

    Proteomic databases

    MaxQBiO96008.
    PaxDbiO96008.
    PeptideAtlasiO96008.
    PRIDEiO96008.

    2D gel databases

    REPRODUCTION-2DPAGEIPI00014053.

    PTM databases

    PhosphoSiteiO96008.

    Expressioni

    Gene expression databases

    ArrayExpressiO96008.
    BgeeiO96008.
    CleanExiHS_TOMM40.
    GenevestigatoriO96008.

    Organism-specific databases

    HPAiCAB009156.
    HPA036231.

    Interactioni

    Subunit structurei

    Forms part of the preprotein translocase complex of the outer mitochondrial membrane (TOM complex) which consists of at least 7 different proteins (TOMM5, TOMM6, TOMM7, TOMM20, TOMM22, TOMM40 and TOMM70). Interacts with mitochondrial targeting sequences.3 Publications

    Protein-protein interaction databases

    BioGridi115716. 49 interactions.
    IntActiO96008. 5 interactions.
    MINTiMINT-3003386.
    STRINGi9606.ENSP00000252487.

    Structurei

    3D structure databases

    ProteinModelPortaliO96008.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi10 – 3930Pro-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the Tom40 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane beta strand

    Phylogenomic databases

    eggNOGiNOG275568.
    HOGENOMiHOG000007440.
    HOVERGENiHBG054707.
    InParanoidiO96008.
    KOiK11518.
    OMAiTRMQDTT.
    PhylomeDBiO96008.
    TreeFamiTF106204.

    Family and domain databases

    Gene3Di2.40.160.10. 1 hit.
    InterProiIPR023614. Porin_dom.
    IPR027246. Porin_Euk/Tom40.
    [Graphical view]
    PfamiPF01459. Porin_3. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O96008-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGNVLAASSP PAGPPPPPAP ALVGLPPPPP SPPGFTLPPL GGSLGAGTST    50
    SRSSERTPGA ATASASGAAE DGACGCLPNP GTFEECHRKC KELFPIQMEG 100
    VKLTVNKGLS NHFQVNHTVA LSTIGESNYH FGVTYVGTKQ LSPTEAFPVL 150
    VGDMDNSGSL NAQVIHQLGP GLRSKMAIQT QQSKFVNWQV DGEYRGSDFT 200
    AAVTLGNPDV LVGSGILVAH YLQSITPCLA LGGELVYHRR PGEEGTVMSL 250
    AGKYTLNNWL ATVTLGQAGM HATYYHKASD QLQVGVEFEA STRMQDTSVS 300
    FGYQLDLPKA NLLFKGSVDS NWIVGATLEK KLPPLPLTLA LGAFLNHRKN 350
    KFQCGFGLTI G 361
    Length:361
    Mass (Da):37,893
    Last modified:May 1, 1999 - v1
    Checksum:iCFE55E01F8003D32
    GO
    Isoform 2 (identifier: O96008-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         317-329: SVDSNWIVGATLE → KGLGSPTRETGRR
         330-361: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:329
    Mass (Da):34,441
    Checksum:iADE7536E9A9ECDCF
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti49 – 491S → R in AAH06413. (PubMed:15489334)Curated
    Sequence conflicti219 – 2191A → S in AAL46625. (PubMed:11745481)Curated
    Sequence conflicti220 – 2201H → R in AAL46624. (PubMed:11745481)Curated
    Sequence conflicti258 – 2581N → S in AAL46626. (PubMed:11745481)Curated
    Sequence conflicti297 – 2971T → A in AAL46626. (PubMed:11745481)Curated
    Sequence conflicti313 – 3131L → F in AAL46624. (PubMed:11745481)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei317 – 32913SVDSN…GATLE → KGLGSPTRETGRR in isoform 2. 1 PublicationVSP_008589Add
    BLAST
    Alternative sequencei330 – 36132Missing in isoform 2. 1 PublicationVSP_008590Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF050154 Genomic DNA. Translation: AAD02504.1.
    AF043250 mRNA. Translation: AAC82342.1.
    AF043253, AF043251, AF043252 Genomic DNA. Translation: AAC82343.1.
    AF316398 mRNA. Translation: AAL46624.1.
    AF316399 mRNA. Translation: AAL46625.1.
    AF316401 mRNA. Translation: AAL46626.1.
    AF316402 mRNA. Translation: AAL46627.1.
    BC001779 mRNA. Translation: AAH01779.1.
    BC006413 mRNA. Translation: AAH06413.1.
    BC012134 mRNA. Translation: AAH12134.1.
    BC017224 mRNA. Translation: AAH17224.1.
    BC047528 mRNA. Translation: AAH47528.1.
    CCDSiCCDS12646.1. [O96008-1]
    RefSeqiNP_001122388.1. NM_001128916.1. [O96008-1]
    NP_001122389.1. NM_001128917.1. [O96008-1]
    NP_006105.1. NM_006114.2. [O96008-1]
    UniGeneiHs.655909.

    Genome annotation databases

    EnsembliENST00000252487; ENSP00000252487; ENSG00000130204. [O96008-1]
    ENST00000405636; ENSP00000385184; ENSG00000130204. [O96008-1]
    ENST00000426677; ENSP00000410339; ENSG00000130204. [O96008-1]
    ENST00000592434; ENSP00000466084; ENSG00000130204. [O96008-2]
    GeneIDi10452.
    KEGGihsa:10452.
    UCSCiuc002ozx.4. human. [O96008-1]
    uc002ozz.3. human. [O96008-2]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF050154 Genomic DNA. Translation: AAD02504.1 .
    AF043250 mRNA. Translation: AAC82342.1 .
    AF043253 , AF043251 , AF043252 Genomic DNA. Translation: AAC82343.1 .
    AF316398 mRNA. Translation: AAL46624.1 .
    AF316399 mRNA. Translation: AAL46625.1 .
    AF316401 mRNA. Translation: AAL46626.1 .
    AF316402 mRNA. Translation: AAL46627.1 .
    BC001779 mRNA. Translation: AAH01779.1 .
    BC006413 mRNA. Translation: AAH06413.1 .
    BC012134 mRNA. Translation: AAH12134.1 .
    BC017224 mRNA. Translation: AAH17224.1 .
    BC047528 mRNA. Translation: AAH47528.1 .
    CCDSi CCDS12646.1. [O96008-1 ]
    RefSeqi NP_001122388.1. NM_001128916.1. [O96008-1 ]
    NP_001122389.1. NM_001128917.1. [O96008-1 ]
    NP_006105.1. NM_006114.2. [O96008-1 ]
    UniGenei Hs.655909.

    3D structure databases

    ProteinModelPortali O96008.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115716. 49 interactions.
    IntActi O96008. 5 interactions.
    MINTi MINT-3003386.
    STRINGi 9606.ENSP00000252487.

    PTM databases

    PhosphoSitei O96008.

    2D gel databases

    REPRODUCTION-2DPAGE IPI00014053.

    Proteomic databases

    MaxQBi O96008.
    PaxDbi O96008.
    PeptideAtlasi O96008.
    PRIDEi O96008.

    Protocols and materials databases

    DNASUi 10452.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000252487 ; ENSP00000252487 ; ENSG00000130204 . [O96008-1 ]
    ENST00000405636 ; ENSP00000385184 ; ENSG00000130204 . [O96008-1 ]
    ENST00000426677 ; ENSP00000410339 ; ENSG00000130204 . [O96008-1 ]
    ENST00000592434 ; ENSP00000466084 ; ENSG00000130204 . [O96008-2 ]
    GeneIDi 10452.
    KEGGi hsa:10452.
    UCSCi uc002ozx.4. human. [O96008-1 ]
    uc002ozz.3. human. [O96008-2 ]

    Organism-specific databases

    CTDi 10452.
    GeneCardsi GC19P045394.
    H-InvDB HIX0041357.
    HGNCi HGNC:18001. TOMM40.
    HPAi CAB009156.
    HPA036231.
    MIMi 608061. gene.
    neXtProti NX_O96008.
    PharmGKBi PA38274.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG275568.
    HOGENOMi HOG000007440.
    HOVERGENi HBG054707.
    InParanoidi O96008.
    KOi K11518.
    OMAi TRMQDTT.
    PhylomeDBi O96008.
    TreeFami TF106204.

    Enzyme and pathway databases

    Reactomei REACT_118595. Mitochondrial protein import.

    Miscellaneous databases

    ChiTaRSi TOMM40. human.
    GeneWikii TOMM40.
    GenomeRNAii 10452.
    NextBioi 39623.
    PROi O96008.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O96008.
    Bgeei O96008.
    CleanExi HS_TOMM40.
    Genevestigatori O96008.

    Family and domain databases

    Gene3Di 2.40.160.10. 1 hit.
    InterProi IPR023614. Porin_dom.
    IPR027246. Porin_Euk/Tom40.
    [Graphical view ]
    Pfami PF01459. Porin_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Sequencing of 42kb of the APO E-C2 gene cluster reveals a new gene: PEREC1."
      Freitas E.M., Zhang W.J., Lalonde J.P., Tay G.K., Gaudieri S., Ashworth L.K., Van Bockxmeer F.M., Dawkins R.L.
      DNA Seq. 9:89-100(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "A transcriptional map in the region of 19q13 derived using direct sequencing and exon trapping."
      Yoshiura K., Murray J.C.
      Submitted (JAN-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
    3. "Genetic identity and differential expression of p38.5 (Haymaker) in human malignant and non-malignant cells."
      Das B., Tao S.-Z., Mushnitsky R., Norin A.J.
      Int. J. Cancer 94:800-806(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Lymphocyte.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Eye, Lung, Skin, Testis and Uterus.
    5. Lubec G., Vishwanath V.
      Submitted (MAR-2007) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 185-195 AND 332-348, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Brain and Cajal-Retzius cell.
    6. "Insertion and assembly of human tom7 into the preprotein translocase complex of the outer mitochondrial membrane."
      Johnston A.J., Hoogenraad J., Dougan D.A., Truscott K.N., Yano M., Mori M., Hoogenraad N.J., Ryan M.T.
      J. Biol. Chem. 277:42197-42204(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN THE TOM COMPLEX WITH TOMM7; TOMM20 AND TOMM22.
    7. "Dissection of the mitochondrial import and assembly pathway for human Tom40."
      Humphries A.D., Streimann I.C., Stojanovski D., Johnston A.J., Yano M., Hoogenraad N.J., Ryan M.T.
      J. Biol. Chem. 280:11535-11543(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN THE TOM COMPLEX WITH TOMM20; TOMM22 AND TOMM70.
    8. "Identification of Tom5 and Tom6 in the preprotein translocase complex of human mitochondrial outer membrane."
      Kato H., Mihara K.
      Biochem. Biophys. Res. Commun. 369:958-963(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN THE TOM COMPLEX.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiTOM40_HUMAN
    AccessioniPrimary (citable) accession number: O96008
    Secondary accession number(s): Q86VW4
    , Q8WY09, Q8WY10, Q8WY11, Q9BR95
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 11, 2001
    Last sequence update: May 1, 1999
    Last modified: October 1, 2014
    This is version 118 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3