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

TIMM50 Gene

protein-coding   GIFtS: 54
GCID: GC19P039971

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

(Previous name: translocase of inner mitochondrial membrane 50 homolog (yeast))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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

GeneCards Summary for TIMM50 Gene: 
TIMM50 (translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)) is a protein-coding gene. Diseases associated with TIMM50 include spinal muscular atrophy, and muscular atrophy, and among its related super-pathways are Post-translational protein modification. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TIMM50

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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.
Interacts directly with TIMM23. Isoform 2 interacts with COIL and snRNPs
Subcellular location: Mitochondrion inner membrane; Single-pass membrane protein
Subcellular location: Isoform 2: Nucleus speckle. Note=Nuclear and enriched in speckles with snRNPs
Sequence caution: Sequence=AAG35534.1; Type=Miscellaneous discrepancy; Note=Chimera;
Secondary accessions: Q6QA00 Q96FJ5 Q96GY2 Q9H370
Alternative splicing: 2 isoforms:  Q3ZCQ8-1   Q3ZCQ8-2   

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

Explore proteomics data for TIMM50 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q3ZCQ8

  • TIMM50 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TIMM50 Protein Expression
    REFSEQ proteins: NP_001001563.1  
    ENSEMBL proteins: 
     ENSP00000318115   ENSP00000472476   ENSP00000475531   ENSP00000472524   ENSP00000472723  
     ENSP00000472184   ENSP00000470896   ENSP00000469052   ENSP00000472904   ENSP00000472920  
     ENSP00000470994   ENSP00000471142   ENSP00000445806  
    Reactome Protein details: Q3ZCQ8
    Human Recombinant Protein Products 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 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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

    TIMM50 for ontologies           About GeneDecksing



    TIMM50 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    TIMM50 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (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
         
    TIMM50 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TIMM50:
     Decreased viability 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TIMM50 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TIMM50

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TIMM50 
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    hsa-miR-4314 hsa-miR-516b
    SwitchGear 3'UTR luciferase reporter plasmidTIMM50 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TIMM50


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TIMM50 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Asparagine N-linked glycosylation
    Metabolism of proteins0.35
    2Mitochondrial Protein Import
    Mitochondrial Protein Import

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2        Reactome Pathways for TIMM50
        Mitochondrial Protein Import
    Metabolism of proteins



    TIMM50 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TIMM50

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

    5/100 Interacting proteins for TIMM50 (Q3ZCQ81, 2, 3 ENSP000003181154) via UniProtKB, MINT, STRING, and/or I2D (see all 100)
    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): 5/7 biological process terms (GO ID links to tree view) (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 ----

    TIMM50 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 TIMM50 (TIM50)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/20 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
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate TIMM50:
    hsa-miR-4314 hsa-miR-516b
    SwitchGear 3'UTR luciferase reporter plasmidTIMM50 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TIMM50
    Sirion Biotech Customized lentivirus for stable overexpression of TIMM50 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TIMM50

    Additional mRNA sequence: AK092396.1 

    24/25 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 

    24/475 AceView cDNA sequences (see all 475):

    BQ218626 CR617770 CR617826 BU957289 AA910505 BQ323854 BG829922 BQ896876 
    BQ054162 CR612446 BU165050 BE378439 BU149860 BQ691114 BX102525 BG831224 
    BU186190 BQ878812 BQ690829 BM747013 CR615287 BQ689517 BQ688419 AA626530 

    GeneLoc Exon Structure

    5/8 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™, 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

    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


    See TIMM50 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TIMM50

    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)

        SABiosciences Expression via Pathway-Focused PCR Array including TIMM50: 
              Mitochondria in human mouse rat

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    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)
    About This Section

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

    Orthologs for TIMM50 gene from 8/16 species (see all 16)    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 75.69(n)
    83.14(a)
      770413  XM_001233750.2  XP_001233751.2 
    lizard
    (Anolis carolinensis)
    Reptilia TIMM506
    Uncharacterized protein
    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 52.8(n)
    44.65(a)
      31266  NM_130671.2  NP_570027.1 
    worm
    (Caenorhabditis elegans)
    Secernentea scpl-41 Protein SCPL-4 47.66(n)
    42.97(a)
      179481  NM_073321.4  NP_505722.1 
    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)
    About This Section
    Paralogs for TIMM50 gene
    1 SIMAP similar gene for TIMM50 using alignment to 13 protein entries:     TIM50_HUMAN (see all proteins):
    CTDSP2

    TIMM50 for paralogs           About GeneDecksing



    (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) 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

    10/374 SNPs in TIMM50 are shown (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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607381    OMIM disorders: --

    2 diseases for TIMM50:    About MalaCards
    spinal muscular atrophy    muscular atrophy


    TIMM50 for disorders           About GeneDecksing


    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)
    About This Section

    PubMed articles for TIMM50 gene, integrated from 9 sources (see all 38):
    (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. (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. (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. (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. (2002)
    5. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    6. Deubiquitinase FAM/USP9X interacts with the E3 ubiquit in ligase SMURF1 protein and protects it from ligase activity-dependent self-deg radation. (PubMed id 23184937)1 Xie Y....Cong F. (2013)
    7. Proteomic analysis of the NOS2 interactome in human ai rway epithelial cells. (PubMed id 23438482)1 Foster M.W....Marshall H.E. (2013)
    8. The P-body component USP52/PAN2 is a novel regulator o f HIF1A mRNA stability. (PubMed id 23398456)1 Bett J.S....Hay R.T. (2013)
    9. The functional interactome landscape of the human hist one deacetylase family. (PubMed id 23752268)1 Joshi P....Cristea I.M. (2013)
    10. Novel, gel-free proteomics approach identifies RNF5 an d JAMP as modulators of GPCR stability. (PubMed id 23798571)1 Roy S.J....Parent J.L. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (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)
    About This Section
    Entrez Gene: 92609 HGNC: 23656 AceView: TIMM50 Ensembl:ENSG00000105197 euGenes: HUgn92609
    ECgene: TIMM50 H-InvDB: TIMM50

    (According to HUGE)
    About This Section
      --

    (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 TIMM50 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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