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TIMM50 Gene

protein-coding   GIFtS: 55
GCID: GC19P039971

Translocase Of Inner Mitochondrial Membrane 50 Homolog (S....

(Previous name: translocase of inner mitochondrial membrane 50 homolog (yeast))
  Search for TIMM50
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Translocase Of Inner Mitochondrial Membrane 50 Homolog (S.
Cerevisiae)1 2
     Homolog Of Yeast Tim502
TIM502 3     Mitochondrial Import Inner Membrane Translocase Subunit TIM502
Translocase Of Inner Mitochondrial Membrane 50 Homolog (Yeast)1     Tim50-Like Protein2
TIM50L2     

External Ids:    HGNC: 236561   Entrez Gene: 926092   Ensembl: ENSG000001051977   OMIM: 6073815   UniProtKB: Q3ZCQ83   

Export aliases for TIMM50 gene to outside databases

Previous GC identifers: GC19P044662 GC19P044663 GC19P036417


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TIMM50 Gene:
TIMM50 (translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)) is a protein-coding gene. GO annotations related to this gene include RNA binding and protein serine/threonine phosphatase activity.

UniProtKB/Swiss-Prot: TIM50_HUMAN, Q3ZCQ8
Function: 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

Gene Wiki entry for TIMM50 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the TIMM50 gene promoter:
         Max1   MAZR   AML1a   C/EBPalpha   RORalpha2   RORalpha1   AREB6   HOXA5   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TIMM50 promoter sequence
   Search Chromatin IP Primers for TIMM50

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TIMM50


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

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

TIMM50 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TIMM50 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P039971:  view genomic region     (about GC identifiers)

Start:
39,971,052 bp from pter      End:
39,984,422 bp from pter
Size:
13,371 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TIM50_HUMAN, Q3ZCQ8 (See protein sequence)
Recommended Name: Mitochondrial import inner membrane translocase subunit TIM50 precursor  
Size: 353 amino acids; 39646 Da
Subunit: 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
Sequence caution: Sequence=AAG35534.1; Type=Miscellaneous discrepancy; Note=Chimera;
Secondary accessions: Q330K1 Q6QA00 Q96FJ5 Q96GY2 Q9H370
Alternative splicing: 3 isoforms:  Q3ZCQ8-1   Q3ZCQ8-2   Q3ZCQ8-3   

Explore the universe of human proteins at neXtProt for TIMM50: NX_Q3ZCQ8

Explore proteomics data for TIMM50 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys232, Lys312, Lys334
  • Modification sites at PhosphoSitePlus

  • See TIMM50 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001001563.1  
    ENSEMBL proteins: 
     ENSP00000318115   ENSP00000472476   ENSP00000475531   ENSP00000472524   ENSP00000472723  
     ENSP00000472184   ENSP00000470896   ENSP00000469052   ENSP00000472904   ENSP00000472920  
     ENSP00000470994   ENSP00000471142   ENSP00000445806  
    Reactome Protein details: Q3ZCQ8

    TIMM50 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for TIMM50
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    Novus Biologicals TIMM50 Protein
    Novus Biologicals TIMM50 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TIMM50

     
    Search eBioscience for Proteins for TIMM50 

    TIMM50 Antibody Products:

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    Abcam antibodies for TIMM50
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    ThermoFisher Antibodies for TIMM50
    LSBio Antibodies in human, mouse, rat for TIMM50

    TIMM50 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TIMM50
    Cloud-Clone Corp. CLIAs for TIMM50
    Search eBioscience for ELISAs for TIMM50 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CTD: Serine/threonine phosphatases / CTD aspartate-based phosphatases

    3 InterPro protein domains:
     IPR027111 Tim50
     IPR023214 HAD-like_dom
     IPR004274 NIF

    Graphical View of Domain Structure for InterPro Entry Q3ZCQ8

    ProtoNet protein and cluster: Q3ZCQ8

    UniProtKB/Swiss-Prot: TIM50_HUMAN, Q3ZCQ8
    Domain: 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
    Similarity: Belongs to the TIM50 family
    Similarity: Contains 1 FCP1 homology domain


    Find genes that share domains with TIMM50           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TIM50_HUMAN, Q3ZCQ8
    Function: 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

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0004721phosphoprotein phosphatase activity IDA15044455
    GO:0004722protein serine/threonine phosphatase activity IDA15044455
    GO:0004725protein tyrosine phosphatase activity IDA15044455
    GO:0005134interleukin-2 receptor binding IDA15044455
         
    Find genes that share ontologies with TIMM50           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TIMM50:
     Decreased viability 

         1 MGI phenotypic allele for Timm50 (no phenotypes)

    Find genes that share phenotypes with TIMM50           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TIMM50
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TIMM50

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TIMM50
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TIMM50

    miRNA
    Products:
        
    miRTarBase miRNAs that target TIMM50:
    hsa-let-7e-5p (MIRT051530), hsa-mir-615-3p (MIRT039882), hsa-mir-484 (MIRT041979), hsa-let-7b-5p (MIRT052037), hsa-mir-193b-3p (MIRT016403), hsa-mir-324-5p (MIRT043156), hsa-mir-7-5p (MIRT025669), hsa-mir-222-3p (MIRT046584)

    Block miRNA regulation of human, mouse, rat TIMM50 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate TIMM50:
    hsa-miR-4314 hsa-miR-516b
    SwitchGear 3'UTR luciferase reporter plasmidTIMM50 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TIMM50
    Predesigned siRNA for gene silencing in human, mouse, rat TIMM50

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for TIMM50 (see all 7)
    OriGene ORF clones in mouse, rat for TIMM50
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TIMM50 (NM_001001563)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TIMM50
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TIMM50

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for TIMM50
    Browse ESI BIO Cell Lines and PureStem Progenitors for TIMM50 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TIMM50


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TIM50_HUMAN, Q3ZCQ8: Mitochondrion inner membrane; Single-pass membrane protein
    TIM50_HUMAN, Q3ZCQ8: Isoform 2: Nucleus speckle. Note=Nuclear and enriched in speckles with snRNPs
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus5
    cytosol2
    plasma membrane2
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IDA15044455
    GO:0005744mitochondrial inner membrane presequence translocase complex IPI15044455
    GO:0016021integral component of membrane IEA--
    GO:0016607nuclear speck IDA16008839

    Find genes that share ontologies with TIMM50           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for TIMM50 About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    2Mitochondrial Protein Import
    Mitochondrial Protein Import


    Find genes that share SuperPaths with TIMM50           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for TIMM50
        Mitochondrial protein import


        Pathway & Disease-focused RT2 Profiler PCR Array including TIMM50: 
              Mitochondria in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TIMM50

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TIMM50 (Q3ZCQ81, 2, 3 ENSP000003181154) via UniProtKB, MINT, STRING, and/or I2D (see all 127)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NFKB2Q006532, 3MINT-48726 MINT-48590 I2D: score=2 
    NFKB1P198382, 3, ENSP000002265744MINT-48664 I2D: score=1 STRING: ENSP00000226574
    IKBKGQ9Y6K92, 3MINT-48172 I2D: score=2 
    MAP3K1Q132332, 3MINT-48307 I2D: score=2 
    MAP3K14Q995582, 3MINT-48827 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001836release of cytochrome c from mitochondria IDA15044455
    GO:0006470protein dephosphorylation IDA15044455
    GO:0006626protein targeting to mitochondrion TAS--
    GO:0007006mitochondrial membrane organization IMP15044455
    GO:0015031protein transport ----

    Find genes that share ontologies with TIMM50           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TIMM50 (TIM50)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TIMM50 gene: 
    NM_001001563.1  

    Unigene Clusters for TIMM50:

    Translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)
    Hs.590956  [show with all ESTs], Hs.597106  [show with all ESTs]
    Unigene Representative Sequences: AK098197, AK092396
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000314349(uc002olt.1 uc002olu.1 uc002olv.1) ENST00000601358
    ENST00000607714 ENST00000599794 ENST00000598125 ENST00000597666 ENST00000601403
    ENST00000602028 ENST00000595286 ENST00000597782 ENST00000599733 ENST00000602265
    ENST00000594583 ENST00000596239 ENST00000595961 ENST00000597552 ENST00000601252
    ENST00000595527
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TIMM50 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate TIMM50:
    hsa-miR-4314 hsa-miR-516b
    SwitchGear 3'UTR luciferase reporter plasmidTIMM50 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TIMM50
    Predesigned siRNA for gene silencing in human, mouse, rat TIMM50
    Clone
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    OriGene clones in human, mouse for TIMM50 (see all 7)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TIMM50 (NM_001001563)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TIMM50
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TIMM50
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for TIMM50
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TIMM50
      QuantiTect SYBR Green Assays in human, mouse, rat TIMM50
      QuantiFast Probe-based Assays in human, mouse, rat TIMM50

    Additional mRNA sequence: AK092396.1 

    Selected DOTS entries (see all 25):

    DT.101967653  DT.100677044  DT.100663830  DT.100663842  DT.456053  DT.100053373  DT.95216999  DT.100663826 
    DT.100663828  DT.100663836  DT.100663837  DT.121433001  DT.95237194  DT.95305199  DT.97838372  DT.100060041 
    DT.100663827  DT.100663831  DT.100713184  DT.100801502  DT.121433003  DT.97838355  DT.100736400  DT.121433042 

    Selected AceView cDNA sequences (see all 475):

    BM765715 CD673522 BQ684992 BG767573 BU157291 BE906765 AL524826 BM773078 
    BE907040 BU185791 BU196991 BM746830 BG760528 BQ447052 BQ686720 CR613215 
    BQ212108 CD672340 BQ225305 CR621888 BF914736 BU192047 BC050082 AA380701 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TIMM50 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b · 10c · 10d
    SP1:                                -     -     -                                                                                             
    SP2:                                      -     -     -                                                                                       
    SP3:                                                                                                                                          
    SP4:                                      -     -     -     -                                                                                 
    SP5:                                                        -     -                                                                           


    ECgene alternative splicing isoforms for TIMM50

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TIMM50 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTCTTTGTC
    TIMM50 Expression
    About this image

    TIMM50 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TIMM50 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.590956 Hs.597106

    UniProtKB/Swiss-Prot: TIM50_HUMAN, Q3ZCQ8
    Tissue specificity: Widely expressed. Expressed at higher level in brain, kidney and liver (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Array including TIMM50: 
              Mitochondria in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for TIMM50
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TIMM50
    QuantiTect SYBR Green Assays in human, mouse, rat TIMM50
    QuantiFast Probe-based Assays in human, mouse, rat TIMM50
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TIMM50

    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for TIMM50 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Timm501 , 5 translocase of inner mitochondrial membrane 50 homolog (yeast) less5
    translocase of inner mitochondrial membrane 501
    87.91(n)1
    91.78(a)1
      7 (16.67 cM)5
    665251  NM_025616.31  NP_079892.11 
     283055165 
    chicken
    (Gallus gallus)
    Aves TIMM501 translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) less 75.65(n)
    82.81(a)
      770413  XM_001233750.3  XP_001233751.3 
    lizard
    (Anolis carolinensis)
    Reptilia TIMM506
    translocase of inner mitochondrial membrane 50 hom...
    85(a)
    1 ↔ 1
    GL343635.1(305970-316559)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.83022 Xenopus laevis transcribed sequence with weak similarity to protein pirJC5707 (H.sapiens) JC5707 HYA22 protein - human less 73.98(n)    BJ620943.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc663572 hypothetical protein MGC66357 73.23(n)   393638  BC057522.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ttm501 tiny tim 50 53.23(n)
    45.15(a)
      31266  NM_130671.2  NP_570027.1 
    worm
    (Caenorhabditis elegans)
    Secernentea scpl-46
    Protein SCPL-4 (scpl-4) mRNA, complete cds
    30(a)
    1 ↔ 1
    V(10599105-10602147) WBGene00011897
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TIM50(YPL063W)4 Essential component of the Translocase of the Inner Mitochondrial membrane (TIM23 complex); acts as receptor for the TIM23 complex guiding incoming precursors from the TOM complex; may control the gating of the Tim23p-Tim17p channel less   --   16(429939-431369) 856042  NP_015262.1 


    ENSEMBL Gene Tree for TIMM50 (if available)
    TreeFam Gene Tree for TIMM50 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TIMM50 gene
    1 SIMAP similar gene for TIMM50 using alignment to 12 protein entries:     TIM50_HUMAN (see all proteins):
    CTDSP2

    Find genes that share paralogs with TIMM50           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TIMM50 (see all 374)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1135966671,2
    C,F--39969103(+) AAAAAC/ACCAAC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs126086041,2
    C,F,H--39969107(+) AACCAA/CCAACA 1 -- us2k12Minor allele frequency- C:0.16NA EA 240
    rs1495732201,2
    --39969110(+) CAACAA/CCAACA 1 -- us2k10--------
    rs15297341,2
    C,F,A--39969120(+) AACAAC/AAAAAA 1 -- us2k18Minor allele frequency- A:0.38WA NA CSA EA 367
    rs671221581,2
    C,F--39969120(+) ACAAA-/AAAAAA/C/C
    AA
    /CAACAAAAG
    AAAAA
    4 -- us2k1 cds12NA 4
    rs676408711,2
    C,F--39969125(+) AAAAAA/GACACC 1 -- us2k16Minor allele frequency- G:0.21WA NA CSA 246
    rs1847483391,2
    --39969157(+) AGATTA/GTATAC 1 -- us2k10--------
    rs1900043741,2
    --39969209(+) AAACAA/GTATGT 1 -- us2k10--------
    rs765420001,2
    F--39969310(+) AATTTG/TTATTT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs104049621,2
    C,F--39969420(+) TAATTC/TGTTTC 1 -- us2k11Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for TIMM50 (39971052 - 39984422 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TIMM50:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv523856CNV Loss19592680
    dgv3863n71CNV Loss21882294
    dgv3864n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TIMM50
    DNA2.0 Custom Variant and Variant Library Synthesis for TIMM50

    (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.)
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    OMIM gene information: 607381    OMIM disorders: --


    Find genes that share disorders with TIMM50           About GenesLikeMe


    Export disorders for TIMM50 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 TIMM50 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with TIMM50)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Tim50, a component of the mitochondrial translocator, regulates mitochondrial integrity and cell death. (PubMed id 15044455)1, 2, 9 Guo Y.... Alnemri E.S. (J. Biol. Chem. 2004)
    2. Tim50a, a nuclear isoform of the mitochondrial Tim50, interacts with proteins involved in snRNP biogenesis. (PubMed id 16008839)1, 2 Xu H.... Hebert M.D. (BMC Cell Biol. 2005)
    3. 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. (Genome Res. 2004)
    4. Tim50 is a subunit of the TIM23 complex that links protein translocation across the outer and inner mitochondrial membranes. (PubMed id 12437925)1, 3 Yamamoto H....Endo T. (Cell 2002)
    5. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    6. Deubiquitinase FAM/USP9X interacts with the E3 ubiquitin ligase SMURF1 protein and protects it from ligase activity-dependent self-degradation. (PubMed id 23184937)1 Xie Y....Cong F. (J. Biol. Chem. 2013)
    7. Methylation-controlled J-protein MCJ acts in the import of proteins into human mitochondria. (PubMed id 23263864)2 Schusdziarra C....Hell K. (Hum. Mol. Genet. 2013)
    8. Proteomic analysis of the NOS2 interactome in human airway epithelial cells. (PubMed id 23438482)1 Foster M.W....Marshall H.E. (Nitric Oxide 2013)
    9. Characterization of the EGFR interactome reveals associated protein complex networks and intracellular receptor dynamics. (PubMed id 23956138)1 Foerster S....Ritter C.A. (Proteomics 2013)
    10. The P-body component USP52/PAN2 is a novel regulator of HIF1A mRNA stability. (PubMed id 23398456)1 Bett J.S....Hay R.T. (Biochem. J. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 92609 HGNC: 23656 AceView: TIMM50 Ensembl:ENSG00000105197 euGenes: HUgn92609
    ECgene: TIMM50 H-InvDB: TIMM50

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TIMM50 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 TIMM50 gene:
    Search GeneIP for patents involving TIMM50

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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