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Q3ZCQ8

- TIM50_HUMAN

UniProt

Q3ZCQ8 - TIM50_HUMAN

Protein

Mitochondrial import inner membrane translocase subunit TIM50

Gene

TIMM50

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 96 (01 Oct 2014)
      Sequence version 2 (06 Dec 2005)
      Previous versions | rss
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    Functioni

    Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. Has some phosphatase activity in vitro; however such activity may not be relevant in vivo. Isoform 2 may participate in the release of snRNPs and SMN from the Cajal body.1 Publication

    GO - Molecular functioni

    1. interleukin-2 receptor binding Source: MGI
    2. phosphoprotein phosphatase activity Source: MGI
    3. protein binding Source: UniProtKB
    4. protein serine/threonine phosphatase activity Source: UniProtKB
    5. protein tyrosine phosphatase activity Source: UniProtKB
    6. ribonucleoprotein complex binding Source: UniProtKB
    7. RNA binding Source: UniProtKB-KW

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. mitochondrial membrane organization Source: UniProtKB
    3. peptidyl-tyrosine dephosphorylation Source: GOC
    4. protein dephosphorylation Source: UniProtKB
    5. protein targeting to mitochondrion Source: Reactome
    6. release of cytochrome c from mitochondria Source: MGI

    Keywords - Biological processi

    Protein transport, Translocation, Transport

    Keywords - Ligandi

    RNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_118595. Mitochondrial protein import.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Mitochondrial import inner membrane translocase subunit TIM50
    Gene namesi
    Name:TIMM50
    Synonyms:TIM50
    ORF Names:PRO1512
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:23656. TIMM50.

    Subcellular locationi

    Mitochondrion inner membrane 2 Publications; Single-pass membrane protein 2 Publications
    Isoform 2 : Nucleus speckle
    Note: Nuclear and enriched in speckles with snRNPs.

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. mitochondrial inner membrane Source: UniProtKB
    3. mitochondrial inner membrane presequence translocase complex Source: UniProtKB
    4. mitochondrion Source: HPA
    5. nuclear speck Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134902846.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 4444MitochondrionSequence AnalysisAdd
    BLAST
    Chaini45 – 353309Mitochondrial import inner membrane translocase subunit TIM50PRO_0000043115Add
    BLAST

    Proteomic databases

    MaxQBiQ3ZCQ8.
    PaxDbiQ3ZCQ8.
    PRIDEiQ3ZCQ8.

    PTM databases

    PhosphoSiteiQ3ZCQ8.

    Expressioni

    Tissue specificityi

    Widely expressed. Expressed at higher level in brain, kidney and liver (at protein level).2 Publications

    Gene expression databases

    ArrayExpressiQ3ZCQ8.
    BgeeiQ3ZCQ8.
    CleanExiHS_TIMM50.
    GenevestigatoriQ3ZCQ8.

    Organism-specific databases

    HPAiHPA048843.

    Interactioni

    Subunit structurei

    Component of the TIM23 complex at least composed of TIMM23, TIMM17 (TIMM17A or TIMM17B) and TIMM50; within this complex, directly interacts with TIMM23. The complex interacts with the TIMM44 component of the PAM complex and with DNAJC15. Isoform 2 interacts with COIL and snRNPs.3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ARAFP103983EBI-355175,EBI-365961
    RAF1P040493EBI-355175,EBI-365996

    Protein-protein interaction databases

    BioGridi124961. 44 interactions.
    IntActiQ3ZCQ8. 25 interactions.
    MINTiMINT-1148586.
    STRINGi9606.ENSP00000318115.

    Structurei

    3D structure databases

    ProteinModelPortaliQ3ZCQ8.
    SMRiQ3ZCQ8. Positions 123-314.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini45 – 6521Mitochondrial matrixSequence AnalysisAdd
    BLAST
    Topological domaini87 – 353267Mitochondrial intermembraneSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei66 – 8621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini143 – 286144FCP1 homologyPROSITE-ProRule annotationAdd
    BLAST

    Domaini

    The FCP1 homology domain does not contain the canonical D-x-D-x-[TV] active site, suggesting that it probably does not display phosphatase activity in vivo.

    Sequence similaritiesi

    Belongs to the TIM50 family.Curated
    Contains 1 FCP1 homology domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transit peptide, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG5190.
    HOVERGENiHBG084157.
    InParanoidiQ3ZCQ8.
    KOiK17496.
    OMAiMEGHHVK.
    OrthoDBiEOG773XH7.
    PhylomeDBiQ3ZCQ8.
    TreeFamiTF106198.

    Family and domain databases

    Gene3Di3.40.50.1000. 1 hit.
    InterProiIPR023214. HAD-like_dom.
    IPR004274. NIF.
    IPR027111. Tim50.
    [Graphical view]
    PANTHERiPTHR12210:SF3. PTHR12210:SF3. 1 hit.
    PfamiPF03031. NIF. 1 hit.
    [Graphical view]
    SMARTiSM00577. CPDc. 1 hit.
    [Graphical view]
    SUPFAMiSSF56784. SSF56784. 1 hit.
    PROSITEiPS50969. FCP1. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q3ZCQ8-1) [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

    MAASAAVFSR LRSGLRLGSR GLCTRLATPP RRAPDQAAEI GSRGSTKAQG    50
    PQQQPGSEGP SYAKKVALWL AGLLGAGGTV SVVYIFGNNP VDENGAKIPD 100
    EFDNDPILVQ QLRRTYKYFK DYRQMIIEPT SPCLLPDPLQ EPYYQPPYTL 150
    VLELTGVLLH PEWSLATGWR FKKRPGIETL FQQLAPLYEI VIFTSETGMT 200
    AFPLIDSVDP HGFISYRLFR DATRYMDGHH VKDISCLNRD PARVVVVDCK 250
    KEAFRLQPYN GVALRPWDGN SDDRVLLDLS AFLKTIALNG VEDVRTVLEH 300
    YALEDDPLAA FKQRQSRLEQ EEQQRLAELS KSNKQNLFLG SLTSRLWPRS 350
    KQP 353
    Length:353
    Mass (Da):39,646
    Last modified:December 6, 2005 - v2
    Checksum:i524EB9989BBF6988
    GO
    Isoform 2 (identifier: Q3ZCQ8-2) [UniParc]FASTAAdd to Basket

    Also known as: Tim50a

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MASALSLGNK...GGAAWRQRKM

    Show »
    Length:456
    Mass (Da):50,465
    Checksum:i870E81E2A0289BC4
    GO
    Isoform 3 (identifier: Q3ZCQ8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-11: MAASAAVFSRL → MVPRFLMSSTM
         12-124: Missing.

    Show »
    Length:240
    Mass (Da):27,579
    Checksum:i4DD423B7CF6FC444
    GO

    Sequence cautioni

    The sequence AAG35534.1 differs from that shown. Reason: Chimera.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1111MAASAAVFSRL → MVPRFLMSSTM in isoform 3. 2 PublicationsVSP_047682Add
    BLAST
    Alternative sequencei1 – 11M → MASALSLGNKCDPFLRCVLC RGGGALQGPRGRGPDDFESQ LSPPGSARRLVRSKRACGNP PDAFGLSRASVHPPLPRVSI GCSSGPGRAKRERVGGAAWR QRKM in isoform 2. CuratedVSP_016389
    Alternative sequencei12 – 124113Missing in isoform 3. 2 PublicationsVSP_047683Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY551341 mRNA. Translation: AAT01208.1.
    AY444561 mRNA. Translation: AAS68537.1.
    AC011500 Genomic DNA. No translation available.
    BC009072 mRNA. Translation: AAH09072.1.
    BC010736 mRNA. Translation: AAH10736.1.
    BC050082 mRNA. Translation: AAH50082.1.
    BC121146 mRNA. Translation: AAI21147.1.
    AF130109 mRNA. Translation: AAG35534.1. Sequence problems.
    CCDSiCCDS33023.1. [Q3ZCQ8-2]
    RefSeqiNP_001001563.1. NM_001001563.1. [Q3ZCQ8-2]
    UniGeneiHs.590956.
    Hs.597106.

    Genome annotation databases

    EnsembliENST00000314349; ENSP00000318115; ENSG00000105197. [Q3ZCQ8-2]
    ENST00000544017; ENSP00000445806; ENSG00000105197. [Q3ZCQ8-3]
    ENST00000607714; ENSP00000475531; ENSG00000105197. [Q3ZCQ8-1]
    GeneIDi92609.
    KEGGihsa:92609.
    UCSCiuc002olt.2. human.
    uc002olu.1. human. [Q3ZCQ8-2]

    Polymorphism databases

    DMDMi83305924.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY551341 mRNA. Translation: AAT01208.1 .
    AY444561 mRNA. Translation: AAS68537.1 .
    AC011500 Genomic DNA. No translation available.
    BC009072 mRNA. Translation: AAH09072.1 .
    BC010736 mRNA. Translation: AAH10736.1 .
    BC050082 mRNA. Translation: AAH50082.1 .
    BC121146 mRNA. Translation: AAI21147.1 .
    AF130109 mRNA. Translation: AAG35534.1 . Sequence problems.
    CCDSi CCDS33023.1. [Q3ZCQ8-2 ]
    RefSeqi NP_001001563.1. NM_001001563.1. [Q3ZCQ8-2 ]
    UniGenei Hs.590956.
    Hs.597106.

    3D structure databases

    ProteinModelPortali Q3ZCQ8.
    SMRi Q3ZCQ8. Positions 123-314.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124961. 44 interactions.
    IntActi Q3ZCQ8. 25 interactions.
    MINTi MINT-1148586.
    STRINGi 9606.ENSP00000318115.

    PTM databases

    PhosphoSitei Q3ZCQ8.

    Polymorphism databases

    DMDMi 83305924.

    Proteomic databases

    MaxQBi Q3ZCQ8.
    PaxDbi Q3ZCQ8.
    PRIDEi Q3ZCQ8.

    Protocols and materials databases

    DNASUi 92609.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000314349 ; ENSP00000318115 ; ENSG00000105197 . [Q3ZCQ8-2 ]
    ENST00000544017 ; ENSP00000445806 ; ENSG00000105197 . [Q3ZCQ8-3 ]
    ENST00000607714 ; ENSP00000475531 ; ENSG00000105197 . [Q3ZCQ8-1 ]
    GeneIDi 92609.
    KEGGi hsa:92609.
    UCSCi uc002olt.2. human.
    uc002olu.1. human. [Q3ZCQ8-2 ]

    Organism-specific databases

    CTDi 92609.
    GeneCardsi GC19P039971.
    H-InvDB HIX0040029.
    HGNCi HGNC:23656. TIMM50.
    HPAi HPA048843.
    MIMi 607381. gene.
    neXtProti NX_Q3ZCQ8.
    PharmGKBi PA134902846.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5190.
    HOVERGENi HBG084157.
    InParanoidi Q3ZCQ8.
    KOi K17496.
    OMAi MEGHHVK.
    OrthoDBi EOG773XH7.
    PhylomeDBi Q3ZCQ8.
    TreeFami TF106198.

    Enzyme and pathway databases

    Reactomei REACT_118595. Mitochondrial protein import.

    Miscellaneous databases

    GeneWikii TIMM50.
    GenomeRNAii 92609.
    NextBioi 77819.
    PROi Q3ZCQ8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q3ZCQ8.
    Bgeei Q3ZCQ8.
    CleanExi HS_TIMM50.
    Genevestigatori Q3ZCQ8.

    Family and domain databases

    Gene3Di 3.40.50.1000. 1 hit.
    InterProi IPR023214. HAD-like_dom.
    IPR004274. NIF.
    IPR027111. Tim50.
    [Graphical view ]
    PANTHERi PTHR12210:SF3. PTHR12210:SF3. 1 hit.
    Pfami PF03031. NIF. 1 hit.
    [Graphical view ]
    SMARTi SM00577. CPDc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56784. SSF56784. 1 hit.
    PROSITEi PS50969. FCP1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Tim50, a component of the mitochondrial translocator, regulates mitochondrial integrity and cell death."
      Guo Y., Cheong N., Zhang Z., De Rose R., Deng Y., Farber S.A., Fernandes-Alnemri T., Alnemri E.S.
      J. Biol. Chem. 279:24813-24825(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH TIMM23.
    2. "Cloning of a novel splice variant of TIM50L."
      Zheng H., Xie Y., Mao Y.
      Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    3. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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 3), PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain, Eye and Pancreas.
    5. "Functional prediction of the coding sequences of 75 new genes deduced by analysis of cDNA clones from human fetal liver."
      Zhang C., Yu Y., Zhang S., Wei H., Bi J., Zhou G., Dong C., Zai Y., Xu W., Gao F., Liu M., He F.
      Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 68-353.
      Tissue: Fetal liver.
    6. Bienvenut W.V.
      Submitted (JUN-2005) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 98-113; 275-284; 285-295 AND 335-345, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: B-cell lymphoma.
    7. Lubec G., Afjehi-Sadat L.
      Submitted (MAR-2007) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 98-113, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Brain and Cajal-Retzius cell.
    8. "Tim50a, a nuclear isoform of the mitochondrial Tim50, interacts with proteins involved in snRNP biogenesis."
      Xu H., Somers Z.B., Robinson M.L. II, Hebert M.D.
      BMC Cell Biol. 6:29-29(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING (ISOFORM 2), RNA-BINDING, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH COIL.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "Methylation-controlled J-protein MCJ acts in the import of proteins into human mitochondria."
      Schusdziarra C., Blamowska M., Azem A., Hell K.
      Hum. Mol. Genet. 22:1348-1357(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH DNAJC15.

    Entry informationi

    Entry nameiTIM50_HUMAN
    AccessioniPrimary (citable) accession number: Q3ZCQ8
    Secondary accession number(s): Q330K1
    , Q6QA00, Q96FJ5, Q96GY2, Q9H370
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 6, 2005
    Last sequence update: December 6, 2005
    Last modified: October 1, 2014
    This is version 96 of the entry and version 2 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