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    TIMM50 translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) [ Homo sapiens ]

    Gene ID: 92609, updated on 11-May-2012
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    Summary

    Official Symbol
    TIMM50provided by HGNC
    Official Full Name
    translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)provided by HGNC
    Primary source
    HGNC:23656
    Locus tag
    PRO1512
    See related
    Ensembl:ENSG00000105197; HPRD:12118; MIM:607381
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TIM50; TIM50L; MGC102733
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    Genomic context

    Location :
    19q13.2
    Sequence :
    Chromosome: 19; NC_000019.9 (39971052..39981528)
    See TIMM50 in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene interleukin-like Neighboring gene suppressor of Ty 5 homolog (S. cerevisiae) Neighboring gene delta-like 3 (Drosophila) Neighboring gene selenoprotein V

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    2. Inner mitochondrial translocase Tim50 interacts with 3β-hydroxysteroid dehydrogenase type 2 to regulate adrenal and gonadal steroidogenesis. Pawlak KJ, et al. J Biol Chem, 2011 Nov 11. PMID 21930695.
    3. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    5. Mindbomb 1, an E3 ubiquitin ligase, forms a complex with RYK to activate Wnt/β-catenin signaling. Berndt JD, et al. J Cell Biol, 2011 Sep 5. PMID 21875946.

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. The far-UV CD spectra of Tim50(IMS) in native and denatured states revealed that the protein has a significantly folded secondary structure consisted of alpha-helixes and beta-sheets.
      Title: Expression and structural characterization of human translocase of inner membrane of mitochondria Tim50.
    2. Tim50 regulates 3betaHSD2 expression and activity, representing a new role for translocases in steroidogenesis.
      Title: Inner mitochondrial translocase Tim50 interacts with 3β-hydroxysteroid dehydrogenase type 2 to regulate adrenal and gonadal steroidogenesis.
    3. TIM50, was upregulated in a non-small cell lung carcinoma cell line (H1299) that expressed the p53 mutants R175H and R273H compared to cells lacking p53.
      Title: Upregulation of the mitochondrial transport protein, Tim50, by mutant p53 contributes to cell growth and chemoresistance.
    4. Tim50 is important for both mitochondrial function and early neuronal development
      Title: Tim50, a component of the mitochondrial translocator, regulates mitochondrial integrity and cell death.
    5. Tim50a, a nuclear isoform of the mitochondrial Tim50, interacts with coilin, snRNPs, and SMN
      Title: Tim50a, a nuclear isoform of the mitochondrial Tim50, interacts with proteins involved in snRNP biogenesis.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_001001563.1 NP_001645.1 ARAF    BIND  PubMed A-RAF interacts with TIMM50. 
    NP_001001563.1 NP_001645.1 ARAF    BIND  PubMed ARAF (A-Raf) interacts with TIMM50 (hC22). 
    NP_001001563.1 NP_004324.2 BRAF    BIND  PubMed B-RAF interacts with TIMM50. 
    NP_001001563.1 NP_002871.1 RAF1    BIND  PubMed C-RAF interacts with TIMM50. 
    NP_001001563.1 NP_002871.1 RAF1    BIND  PubMed RAF1 (C-Raf) interacts with TIMM50 (hC22). 
    Q3ZCQ8 Q05193 DNM1    HPRD  PubMed  
    Q3ZCQ8 P68402 PAFAH1B2    HPRD  PubMed  
    Q3ZCQ8 P04049 RAF1    HPRD  PubMed  
    Q3ZCQ8 O14925 TIMM23B    HPRD  PubMed  
    BioGRID:124961 BioGRID:122157 AKTIP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124961 BioGRID:106764 AMFR    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124961 BioGRID:971788 EBNA-LP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124961 BioGRID:114879 MAGED1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124961 BioGRID:111086 PAFAH1B2    BioGRID  PubMed Two-hybrid 
    BioGRID:124961 BioGRID:119818 PELO    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124961 BioGRID:116459 PHB2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124961 BioGRID:208005 Pias1    BioGRID  PubMed Two-hybrid 
    BioGRID:124961 BioGRID:112171 RYK    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124961 BioGRID:114323 TNFRSF10B    BioGRID  PubMed Two-hybrid 
    BioGRID:124961 BioGRID:125199 TUBA3E    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124961 BioGRID:230642 Tubb4b    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124961 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • 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...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    interleukin-2 receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    phosphoprotein phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein serine/threonine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein tyrosine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    ribonucleoprotein complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    mitochondrial membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    peptidyl-tyrosine dephosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein dephosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    release of cytochrome c from mitochondria IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    mitochondrial inner membrane presequence translocase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    nuclear speck IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    mitochondrial import inner membrane translocase subunit TIM50
    Names
    mitochondrial import inner membrane translocase subunit TIM50
    Tim50-like protein
    homolog of yeast Tim50
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    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001001563.1 → NP_001001563.1  mitochondrial import inner membrane translocase subunit TIM50

      Status: VALIDATED

      Source sequence(s)
      AK098197, BC010736, BC014674, BE386959, BI856163, BQ925812, BU540967
      Consensus CDS
      CCDS33023.1
      UniProtKB/Swiss-Prot
      Q3ZCQ8
      Related
      ENSP00000318115, ENST00000314349
      Conserved Domains (1) summary
      cl11391
      Location:251 – 398
      Blast Score: 358
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p5 Primary Assembly

      Range
      39971052..39981528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      36417634..36428111
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC011500.7 (85234..95710) None
    genomic CH471126.1 EAW56901.1
      EAW56902.1
      EAW56903.1
    mRNA AK092396.1 None
    mRNA AK097291.1 None
    mRNA AK098197.1 None
    mRNA AY444561.1 AAS68537.1
    mRNA AY551341.1 AAT01208.1
    mRNA BC009072.1 AAH09072.1
    mRNA BC010736.1 AAH10736.1
    mRNA BC014674.1 None
    mRNA BC050082.1 AAH50082.1
    mRNA BC121146.1 AAI21147.1
    mRNA BC121147.1 AAI21148.1
    mRNA BE386959.1 None
    mRNA BI856163.1 None
    mRNA BQ925812.1 None
    mRNA BU540967.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0VAB1 GenPept UniProtKB/TrEMBL:Q0VAB1
    Q330K1 GenPept UniProtKB/TrEMBL:Q330K1
    Q3ZCQ8.2 GenPept UniProtKB/Swiss-Prot:Q3ZCQ8
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
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      Supplemental Content

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      Links

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