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TIMM17A Gene

protein-coding   GIFtS: 62
GCID: GC01P201924

Translocase Of Inner Mitochondrial Membrane 17 Homolog A...

  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)
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Aliases
Translocase Of Inner Mitochondrial Membrane 17 Homolog A (Yeast)1 2     Mitochondrial Inner Membrane Translocase2
TIM17A2 3 5     Preprotein Translocase2
Inner Membrane Preprotein Translocase Tim17a2 3     MIMT173
TIM172 3     TIMM173
Mitochondrial Import Inner Membrane Translocase Subunit Tim17-A2     

External Ids:    HGNC: 173151   Entrez Gene: 104402   Ensembl: ENSG000001343757   OMIM: 6050575   UniProtKB: Q995953   

Export aliases for TIMM17A gene to outside databases

Previous GC identifers: GC01P199608 GC01P197358 GC01P198391 GC01P199212 GC01P198656 GC01P200192 GC01P173090


(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 TIMM17A Gene:
TIMM17A (translocase of inner mitochondrial membrane 17 homolog A (yeast)) is a protein-coding gene. Diseases associated with TIMM17A include barth syndrome, and breast cancer. GO annotations related to this gene include P-P-bond-hydrolysis-driven protein transmembrane transporter activity. An important paralog of this gene is TIMM17B.

UniProtKB/Swiss-Prot: TI17A_HUMAN, Q99595
Function: Essential component of the TIM23 complex, a complex that mediates the translocation of transit
peptide-containing proteins across the mitochondrial inner membrane

Gene Wiki entry for TIMM17A 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:
NC_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the TIMM17A gene promoter:
         AML1a   HTF   LUN-1   Evi-1   E47   POU2F1   POU2F1a   FOXO4   Hand1   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTIMM17A promoter sequence
   Search Chromatin IP Primers for TIMM17A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TIMM17A


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

Entrez Gene cytogenetic band: 1q32.1   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32.1

TIMM17A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TIMM17A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P201924:  view genomic region     (about GC identifiers)

Start:
201,924,619 bp from pter      End:
201,939,789 bp from pter
Size:
15,171 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, 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., 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: TI17A_HUMAN, Q99595 (See protein sequence)
Recommended Name: Mitochondrial import inner membrane translocase subunit Tim17-A  
Size: 171 amino acids; 18024 Da
Subunit: Component of the TIM23 complex at least composed of TIMM23, TIMM17 (TIMM17A or TIMM17B) and TIMM50. The
complex interacts with the TIMM44 component of the PAM complex and with DNAJC15
Secondary accessions: B2RDM5 Q9BWF5

Explore the universe of human proteins at neXtProt for TIMM17A: NX_Q99595

Explore proteomics data for TIMM17A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TIMM17A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006326.1  
    ENSEMBL proteins: 
     ENSP00000356256  
    Reactome Protein details: Q99595

    TIMM17A Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for TIMM17A
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    Novus Biologicals TIMM17A Protein
    Novus Biologicals TIMM17A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for TIMM17A

    TIMM17A Antibody Products:

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    Abcam antibodies for TIMM17A
    Cloud-Clone Corp. Antibodies for TIMM17A
    ThermoFisher Antibodies for TIMM17A
    LSBio Antibodies in human, mouse, rat for TIMM17A

    TIMM17A Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for TIMM17A
    Cloud-Clone Corp. CLIAs for TIMM17A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR003397 Tim17/Tim22/Tim23/PMP24
     IPR005678 Tim17

    Graphical View of Domain Structure for InterPro Entry Q99595

    ProtoNet protein and cluster: Q99595

    1 Blocks protein domain: IPB003397 Mitochondrial import inner membrane translocase

    UniProtKB/Swiss-Prot: TI17A_HUMAN, Q99595
    Similarity: Belongs to the Tim17/Tim22/Tim23 family


    TIMM17A 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TI17A_HUMAN, Q99595
    Function: Essential component of the TIM23 complex, a complex that mediates the translocation of transit
    peptide-containing proteins across the mitochondrial inner membrane

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015450P-P-bond-hydrolysis-driven protein transmembrane transporter activity IEA--
         
    TIMM17A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TIMM17A:
     Decreased TP53 protein express 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TIMM17A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TIMM17A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TIMM17A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TIMM17A

    miRNA
    Products:
        
    miRTarBase miRNAs that target TIMM17A:
    hsa-mir-16-5p (MIRT031758), hsa-mir-375 (MIRT019841), hsa-mir-30a-5p (MIRT028479)

    Block miRNA regulation of human, mouse, rat TIMM17A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TIMM17A (see all 32):
    hsa-miR-548j hsa-miR-106a hsa-miR-1224-3p hsa-miR-1260b hsa-miR-105 hsa-miR-133a hsa-miR-93 hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidTIMM17A 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TIMM17A
    Predesigned siRNA for gene silencing in human, mouse, rat TIMM17A

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for TIMM17A

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    OriGene ORF clones in mouse, rat for TIMM17A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TIMM17A (NM_006335)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TIMM17A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TIMM17A

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for TIMM17A 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TIMM17A


    (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
    TI17A_HUMAN, Q99595: Mitochondrion inner membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    plasma membrane2
    cytosol1
    lysosome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005744mitochondrial inner membrane presequence translocase complex IDA10339406
    GO:0031305integral component of mitochondrial inner membrane IDA10339406

    TIMM17A for ontologies           About GeneDecksing


    (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 TIMM17A 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for TIMM17A
        Mitochondrial protein import



    TIMM17A for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including TIMM17A: 
              Mitochondria in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TIMM17A

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

    Selected Interacting proteins for TIMM17A (Q995952, 3 ENSP000003562564) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HAP1P542572, 3, ENSP000003340024MINT-65283 I2D: score=3 STRING: ENSP00000334002
    TUBA1AQ71U362, 3, ENSP000003010714MINT-8272773 I2D: score=2 STRING: ENSP00000301071
    TIMM44O436153, ENSP000002705384I2D: score=3 STRING: ENSP00000270538
    DNAJC19Q96DA63, ENSP000003720054I2D: score=1 STRING: ENSP00000372005
    TIMM23O149253, ENSP000002608674I2D: score=1 STRING: ENSP00000260867
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006626protein targeting to mitochondrion TAS--
    GO:0006886intracellular protein transport ----
    GO:0044267cellular protein metabolic process TAS--

    TIMM17A for ontologies           About GeneDecksing



    (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 TIMM17A (TI17A)

    1 Novoseek inferred chemical compound relationship for TIMM17A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 40.8 2 1825804 (1), 8940175 (1)



    TIMM17A for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TIMM17A gene: 
    NM_006335.2  

    Unigene Cluster for TIMM17A:

    Translocase of inner mitochondrial membrane 17 homolog A (yeast)
    Hs.20716  [show with all ESTs]
    Unigene Representative Sequence: AK023063
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367287(uc001gxc.3) ENST00000478378 ENST00000484647 ENST00000482943

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TIMM17A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TIMM17A (see all 32):
    hsa-miR-548j hsa-miR-106a hsa-miR-1224-3p hsa-miR-1260b hsa-miR-105 hsa-miR-133a hsa-miR-93 hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidTIMM17A 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TIMM17A
    Predesigned siRNA for gene silencing in human, mouse, rat TIMM17A
    Clone
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    OriGene clones in human, mouse for TIMM17A (see all 7)
    OriGene ORF clones in mouse, rat for TIMM17A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TIMM17A (NM_006335)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TIMM17A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TIMM17A
    Primer
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    OriGene qPCR primer pairs and template standards for TIMM17A
    OriGene qSTAR qPCR primer pairs in human, mouse for TIMM17A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TIMM17A
      QuantiTect SYBR Green Assays in human, mouse, rat TIMM17A
      QuantiFast Probe-based Assays in human, mouse, rat TIMM17A

    Additional mRNA sequence: 

    AF106622.1 AK023063.1 AK315602.1 BC000294.2 BC004439.1 BC007106.1 BC009784.1 BC013823.1 
    BC015098.1 BC016817.1 BC020833.1 X97544.1 

    19 DOTS entries:

    DT.446478  DT.100845287  DT.419417  DT.100845289  DT.100845286  DT.100845282  DT.100845284  DT.100845290 
    DT.121462464  DT.91964004  DT.121462415  DT.121462458  DT.91650679  DT.91773291  DT.91773292  DT.95127417 
    DT.95258963  DT.121462468  DT.95148692 

    Selected AceView cDNA sequences (see all 582):

    CD516690 BQ720416 CB162906 BU680643 AA729473 AU104743 BG573994 AW168033 
    CB131897 CB528493 CB132495 AA889299 BE550142 AI277528 AI242933 BQ441111 
    BC013823 BU624425 CB144069 AI492287 N74521 BU162311 CD369048 AW969073 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for TIMM17A    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c
    SP1:                                                            
    SP2:                          -                                 
    SP3:                          -     -                           


    ECgene alternative splicing isoforms for TIMM17A

    (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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    TIMM17A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAGTGTAC
    TIMM17A Expression
    About this image


    TIMM17A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Gonad
             Primary Oocyte Primary Follicle
    TIMM17A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TIMM17A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.20716
        Pathway & Disease-focused RT2 Profiler PCR Array including TIMM17A: 
              Mitochondria in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TIMM17A
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    QuantiFast Probe-based Assays in human, mouse, rat TIMM17A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TIMM17A

    (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 eukaryotes.

    Orthologs for TIMM17A gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Timm17a1 , 5 translocase of inner mitochondrial membrane 17a1, 5 89.08(n)1
    95.91(a)1
      1 (58.48 cM)5
    218541  NM_011590.21  NP_035720.11 
     1353015325 
    chicken
    (Gallus gallus)
    Aves TIMM17A1 translocase of inner mitochondrial membrane 17 homolog more 79.92(n)
    93.37(a)
      421147  NM_001031026.1  NP_001026197.1 
    lizard
    (Anolis carolinensis)
    Reptilia TIMM17A6
    translocase of inner mitochondrial membrane 17 hom...
    94(a)
    1 ↔ 1
    4(133579498-133589730)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.302962 Xenopus laevis transcribed sequence with moderate similarity more 76.94(n)    BJ625546.1 
    zebrafish
    (Danio rerio)
    Actinopterygii timm17a2 translocase of inner mitochondrial membrane 17 homolog more 79.12(n)   386636  BC056525.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tim17b13 protein transport protein translocase 65(a)
    (best of 5)
      82F9   --
    worm
    (Caenorhabditis elegans)
    Secernentea E04A4.53   -- 50(a)   IV(4744699-4745784)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TIM176
    Essential subunit of the Translocase of the Inner ...
    47(a)
    1 → many
    X(147101-147577) YJL143W
    rice
    (Oryza sativa)
    Liliopsida Os03g04155001 Os03g0415500 54.64(n)
    59.4(a)
      4333113  NM_001056900.1  NP_001050365.1 


    ENSEMBL Gene Tree for TIMM17A (if available)
    TreeFam Gene Tree for TIMM17A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TIMM17A gene
    TIMM17B2  
    2 SIMAP similar genes for TIMM17A using alignment to 2 protein entries:     TI17A_HUMAN (see all proteins):
    TIM17A    TIMM17B

    TIMM17A for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TIMM17A
    PGOHUM00000245138


    (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 TIMM17A (see all 391)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs174734341,2
    C,F,H--201922759(+) ACAATT/CAAATA 1 -- us2k124Minor allele frequency- C:0.21NA NS EA WA CSA 2490
    rs1815807571,2
    --201922881(+) TAATCA/TTTAGT 1 -- us2k10--------
    rs1415451361,2
    C--201923165(+) GTCTCA/GAACTC 1 -- us2k10--------
    rs120490251,2
    C--201923178(+) GACCTC/TGTGAT 1 -- us2k10--------
    rs1858391831,2
    --201923347(+) GCCATC/TACATG 1 -- us2k10--------
    rs49507441,2
    C,F,H--201923383(+) AAAAGC/TTCCAT 1 -- us2k120Minor allele frequency- T:0.20NA NS EA WA 2478
    rs28203051,2
    C,F,A,H--201923481(+) TAGATC/TTCCTG 1 -- us2k110Minor allele frequency- T:0.32NS EA NA WA CSA 774
    rs1379468561,2
    --201923583(+) TTCTCC/TGAGCC 1 -- us2k10--------
    rs745575431,2
    --201923635(+) TGTGAA/GAGGCT 1 -- us2k10--------
    rs28203061,2
    C,F,O,A,H--201923805(+) CGTGTA/GTTTGG 1 -- us2k124Minor allele frequency- G:0.34EA NA MN NS WA CSA 2624

    HapMap Linkage Disequilibrium report for TIMM17A (201924619 - 201939789 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TIMM17A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv161136CNV Loss16902084

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TIMM17A
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605057    OMIM disorders: --

    2 diseases for TIMM17A:    
    About MalaCards
    barth syndrome    breast cancer


    TIMM17A for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for TIMM17A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    shock 0 1 9442867 (1)

    Genetic Association Database (GAD): TIMM17A
    Human Genome Epidemiology (HuGE) Navigator: TIMM17A (1 document)

    Export disorders for TIMM17A 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 TIMM17A gene, integrated from 10 sources (see all 68):
    (articles sorted by number of sources associating them with TIMM17A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic and structural characterization of the human mitochondrial inner membrane translocase. (PubMed id 10339406)1, 2, 3, 9 Bauer M.F.... Hofmann S. (J. Mol. Biol. 1999)
    2. The preprotein translocase of the inner mitochondrial membrane: evolutionary conservation of targeting and assembly of Tim17. (PubMed id 8893850)1, 2, 3, 9 Boemer U.... Maarse A.C. (J. Mol. Biol. 1996)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. 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)
    6. The TIM17.23 preprotein translocase of mitochondria: composition and function in protein transport into the matrix. (PubMed id 10393182)1, 9 Moro F....Brunner M. (EMBO J. 1999)
    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. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. High TIMM17A expression is associated with adverse pathological and clinical outcomes in human breast cancer. (PubMed id 20972741)1 Salhab M....Mokbel K. (Breast Cancer 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 10440 HGNC: 17315 AceView: TIMM17A Ensembl:ENSG00000134375 euGenes: HUgn10440
    ECgene: TIMM17A H-InvDB: TIMM17A

    (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 TIMM17A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TIMM17A Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TIMM17A gene:
    Search GeneIP for patents involving TIMM17A

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



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