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TNNT1 Gene

protein-coding   GIFtS: 62
GCID: GC19M055644

Troponin T Type 1 (Skeletal, Slow)

(Previous names: troponin T1, skeletal, slow)
  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
Troponin T Type 1 (Skeletal, Slow)1 2     Troponin T11
Slow Skeletal Muscle Troponin T1 2 3     Troponin T1, Skeletal, Slow1
Nemaline Myopathy Type 51 2     STNT2
TNT2 3     TNTS2
ANM2 5     Troponin T, Slow Skeletal Muscle2
NEM52 5     Troponin-T1, Skeletal, Slow2
skeletal1     TnTs3
slow1     sTnT3

External Ids:    HGNC: 119481   Entrez Gene: 71382   Ensembl: ENSG000001050487   OMIM: 1910415   UniProtKB: P138053   

Export aliases for TNNT1 gene to outside databases

Previous GC identifers: GC19M056506 GC19M056068 GC19M060320 GC19M060336 GC19M051967


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TNNT1 Gene:
This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin
filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in
intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium,
troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow
skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline
myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in
skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the
second year. Multiple transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, Jul 2008)

GeneCards Summary for TNNT1 Gene:
TNNT1 (troponin T type 1 (skeletal, slow)) is a protein-coding gene. Diseases associated with TNNT1 include nemaline myopathy 5, and leukorrhea. GO annotations related to this gene include troponin T binding and tropomyosin binding. An important paralog of this gene is TNNT3.

UniProtKB/Swiss-Prot: TNNT1_HUMAN, P13805
Function: Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which
confers calcium-sensitivity to striated muscle actomyosin ATPase activity

Gene Wiki entry for TNNT1 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_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TNNT1 gene promoter:
         E2F-3a   E2F-4   E2F-5   CUTL1   E2F-2   Gfi-1   GATA-2   E2F-1   E2F   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTNNT1 promoter sequence
   Search Chromatin IP Primers for TNNT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TNNT1


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

Entrez Gene cytogenetic band: 19q13.4   Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.4

TNNT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TNNT1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M055644:  view genomic region     (about GC identifiers)

Start:
55,644,161 bp from pter      End:
55,660,722 bp from pter
Size:
16,562 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TNNT1_HUMAN, P13805 (See protein sequence)
Recommended Name: Troponin T, slow skeletal muscle  
Size: 278 amino acids; 32948 Da
Sequence caution: Sequence=AAH22086.2; Type=Erroneous initiation;
Secondary accessions: O95472 Q16061 Q5U0E1
Alternative splicing: 3 isoforms:  P13805-1   P13805-2   P13805-3   

Explore the universe of human proteins at neXtProt for TNNT1: NX_P13805

Explore proteomics data for TNNT1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TNNT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001119604.1  NP_001119605.1  NP_003274.3  

    ENSEMBL proteins: 
     ENSP00000467789   ENSP00000349233   ENSP00000291901   ENSP00000465991   ENSP00000467176  
     ENSP00000467881   ENSP00000465686   ENSP00000464843   ENSP00000467980   ENSP00000465544  
     ENSP00000469564   ENSP00000470777   ENSP00000470854   ENSP00000467299   ENSP00000439640  
    Reactome Protein details: P13805

    TNNT1 Human Recombinant Protein Products:

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    Abcam antibodies for TNNT1 (P13805, P45378)
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    ThermoFisher Antibodies for TNNT1
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    TNNT1 Assay Products:

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    Cloud-Clone Corp. CLIAs for TNNT1


    (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:
     IPR027707 TNNT
     IPR001978 Troponin

    Graphical View of Domain Structure for InterPro Entry P13805

    ProtoNet protein and cluster: P13805

    1 Blocks protein domain: IPB001978 Troponin

    UniProtKB/Swiss-Prot: TNNT1_HUMAN, P13805
    Similarity: Belongs to the troponin T family


    TNNT1 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: TNNT1_HUMAN, P13805
    Function: Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which
    confers calcium-sensitivity to striated muscle actomyosin ATPase activity

         Genatlas biochemistry entry for TNNT1:
    troponin T1,slow skeletal muscle,four isoforms, component of the troponin complex forming the calcium-sensitive
    molecular switch that regulates striated muscle contraction in response to modifications in intracellular
    concentration,organized in pair with TNNT3,involved in the attachment of the complex to tropomyosin and troponin
    I

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005523tropomyosin binding IMP15665378
    GO:0031014troponin T binding IEA--
         
    TNNT1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TNNT1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TNNT1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TNNT1

    miRNA
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    Block miRNA regulation of human, mouse, rat TNNT1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate TNNT1:
    hsa-miR-498
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TNNT1
    Predesigned siRNA for gene silencing in human, mouse, rat TNNT1

    Gene Editing
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): TNNT1 (NM_001126133)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TNNT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TNNT1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for TNNT1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNNT1


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus2
    endoplasmic reticulum1
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005861troponin complex IMP15665378

    TNNT1 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 TNNT1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.82
    Muscle contraction0.61
    Striated Muscle Contraction0.82

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for TNNT1
        Striated Muscle Contraction

    1 Reactome Pathway for TNNT1
        Striated Muscle Contraction



    TNNT1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TNNT1: 
              Growth Factors in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TNNT1

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

    Selected Interacting proteins for TNNT1 (P138052, 3 ENSP000002919014) via UniProtKB, MINT, STRING, and/or I2D (see all 130)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158342, 3, ENSP000003116954MINT-66417 I2D: score=5 STRING: ENSP00000311695
    FXR2P511162, 3, ENSP000002501134MINT-68281 I2D: score=5 STRING: ENSP00000250113
    NINLQ9Y2I62, 3, ENSP000002788864MINT-68166 I2D: score=5 STRING: ENSP00000278886
    OSBP2Q969R22, 3, ENSP000003325764MINT-8275006 I2D: score=2 STRING: ENSP00000332576
    OSMP137252, 3, ENSP000002157814MINT-8275017 I2D: score=2 STRING: ENSP00000215781
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003009skeletal muscle contraction IMP10952871
    GO:0006937regulation of muscle contraction ----
    GO:0030049muscle filament sliding TAS--
    GO:0031444slow-twitch skeletal muscle fiber contraction IEA--
    GO:0045932negative regulation of muscle contraction IDA18032382

    TNNT1 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 TNNT1

    1 HMDB Compound for TNNT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    2 Novoseek inferred chemical compound relationships for TNNT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    actomyosin 74.5 2 9742444 (1), 9724539 (1)
    calcium 24.5 11 9724539 (4), 9742444 (1), 10098965 (1), 12732643 (1) (see all 5)



    TNNT1 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,
    Conferences by KenesGroup, 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 TNNT1 gene (3 alternative transcripts): 
    NM_001126132.1  NM_001126133.1  NM_003283.4  

    Unigene Cluster for TNNT1:

    Troponin T type 1 (skeletal, slow)
    Hs.631558  [show with all ESTs]
    Unigene Representative Sequence: BI087655
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000587758 ENST00000356783(uc002qje.4 uc002qjd.4 uc002qjf.2)
    ENST00000291901(uc002qjb.4 uc002qjc.4) ENST00000588426 ENST00000588981
    ENST00000593194 ENST00000589745 ENST00000587465 ENST00000585321 ENST00000587089
    ENST00000586649 ENST00000593046 ENST00000589226 ENST00000592920 ENST00000588147
    ENST00000586282 ENST00000536926
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate TNNT1:
    hsa-miR-498
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TNNT1
    Predesigned siRNA for gene silencing in human, mouse, rat TNNT1
    Clone
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    OriGene clones in human, mouse for TNNT1 (see all 17)
    OriGene ORF clones in mouse, rat for TNNT1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): TNNT1 (NM_001126133)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TNNT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TNNT1
    Primer
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    OriGene qPCR primer pairs and template standards for TNNT1
    OriGene qSTAR qPCR primer pairs in human, mouse for TNNT1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TNNT1
      QuantiTect SYBR Green Assays in human, mouse, rat TNNT1
      QuantiFast Probe-based Assays in human, mouse, rat TNNT1

    Additional mRNA sequence: 

    AK291352.1 AK308199.1 BC007074.1 BC010963.1 BC022086.2 BC034143.1 BC107798.1 BT019630.1 
    M19308.1 M19309.1 S51938.1 S69208.1 S69209.1 

    22 DOTS entries:

    DT.91699629  DT.92439488  DT.75131555  DT.87078018  DT.121498310  DT.100041977  DT.91992286  DT.121498283 
    DT.75178077  DT.100837056  DT.121498296  DT.92439478  DT.92439484  DT.121498311  DT.92439479  DT.95233970 
    DT.95364824  DT.121498298  DT.100041976  DT.121498275  DT.91867005  DT.121617014 

    Selected AceView cDNA sequences (see all 579):

    AW384524 F29491 F28231 F33040 F24546 F31694 F24347 F36320 
    BM471897 BU528787 F25414 F31905 F26647 F34710 BE254104 F26044 
    F31486 F31182 BU850035 F30759 BP365012 F31174 F29240 F30836 

    GeneLoc Exon Structure


    (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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    TNNT1 expression in normal human tissues (normalized intensities)      TNNT1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGGAGGAAC
    TNNT1 Expression
    About this image


    TNNT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 16 entries
             Multinuclear Myocytes Lumbar Back Muscles
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Cardiac Fibroblasts Myocardium
             Heart Tube
     
     Fibroblasts
             Cardiac Fibroblasts Myocardium
     
     Kidney (Urinary System)
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
    TNNT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TNNT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.631558
        Pathway & Disease-focused RT2 Profiler PCR Arrays including TNNT1: 
              Growth Factors in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for TNNT1
    OriGene qSTAR qPCR primer pairs in human, mouse for TNNT1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TNNT1
    QuantiTect SYBR Green Assays in human, mouse, rat TNNT1
    QuantiFast Probe-based Assays in human, mouse, rat TNNT1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TNNT1

    (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 chordates.

    Orthologs for TNNT1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tnnt11 , 5 troponin T1, skeletal, slow1, 5 86.16(n)1
    96.43(a)1
      7 (2.60 cM)5
    219551  NM_001277904.11  NP_001264833.11 
     45045705 
    lizard
    (Anolis carolinensis)
    Reptilia TNNT16
    troponin T type 1 (skeletal, slow)
    85(a)
    1 ↔ 1
    GL343329.1(871072-896748)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tnnt11 troponin T type 1 (skeletal, slow) 73.69(n)
    86.55(a)
      100493291  XM_002938273.2  XP_002938319.2 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1938651 zgc:193865 67.86(n)
    75.34(a)
      558627  NM_001128695.1  NP_001122167.1 


    ENSEMBL Gene Tree for TNNT1 (if available)
    TreeFam Gene Tree for TNNT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TNNT1 gene
    TNNT32  TNNT22  
    Selected SIMAP similar genes for TNNT1 using alignment to 14 protein entries:     TNNT1_HUMAN (see all proteins) (see all similar genes):
    HDGFRP2    KIAA1651    SIPA1L3    UBXN4    C12orf76    EIF3G
    ZNF28    pp12301    ARL6IP5    IK    MAN2C1    NDUFS3
    SNRPF    SUMO1    ZNF257    ADCK1    ARIH1    CALCOCO2

    TNNT1 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), 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 TNNT1 (see all 581)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs803582491,2
    Cpathogenic155648544(-) GGCGGG/TAGATG 6 E * stg10--------
    rs8908681,2
    C,F,Huntested155644325(-) AGCCGG/TAAGGG 6 R syn119Minor allele frequency- T:0.00MN NS EA NA WA CSA EU 5051
    rs8911861,2
    C,F,O,Huntested155644442(-) TTCCTC/TTGGGC 3 -- int124Minor allele frequency- T:0.29MN EA NS NA WA 4020
    rs8911851,2
    C,F,A,Huntested155644606(-) CCCCCC/AACCCT 3 -- int1 trp318Minor allele frequency- A:0.25NS EA NA WA 2342
    rs37608731,2
    C,F,A,Huntested155648270(-) GCTGCC/TGTGGC 3 -- int121Minor allele frequency- T:0.29NS EA NA WA CSA 2346
    rs343133881,2
    C,Funtested155652584(+) TCCTCT/CTCCTC 6 /E syn13Minor allele frequency- C:0.00NA WA 4740
    rs25609421,2
    C,F,O,A,Huntested155652758(-) ACGGTC/TCAGTT 3 -- int130Minor allele frequency- N:0.00NS EA NA WA CSA 3277
    rs24344541,2
    C,F,Huntested155657041(-) CCTGGG/TGTCCT 3 -- int17Minor allele frequency- T:0.14NS EA WA NA 776
    rs116695341,2
    C,F,Huntested155658088(+) TGGGGG/ACACAG 3 -- int113Minor allele frequency- A:0.09NS EA NA EU 1948
    rs1125627591,2
    C,Funtested155658387(+) GCTGCT/CCCCTG 6 /E /G mis13Minor allele frequency- C:0.07NA EU 4557

    HapMap Linkage Disequilibrium report for TNNT1 (55644161 - 55660722 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for TNNT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675833CNV Deletion23128226
    esv1688462CNV Deletion17803354
    esv2718955CNV Deletion23290073
    esv2718954CNV Deletion23290073
    esv2308409CNV Deletion18987734
    esv2541049CNV Insertion19546169
    dgv4015n71CNV Loss21882294
    nsv912451CNV Loss21882294
    esv34356CNV Gain17911159
    dgv1131e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): TNNT1
    Locus Specific Mutation Databases (LSDB): TNNT1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 191041   
    OMIM disorders: 605355  
    UniProtKB/Swiss-Prot: TNNT1_HUMAN, P13805
  • Nemaline myopathy 5 (NEM5) [MIM:605355]: A form of nemaline myopathy. Nemaline myopathies are muscular
    disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped
    structures in muscle fibers on histologic examination. Nemaline myopathy type 5 is a severe and progressive form
    common among Old Order Amish. Affected infants display tremors with hypotonia and mild contractures of the
    shoulders and hips. Proximal contractures progressively weaken and a pectus carinatum deformity develops before
    children die of respiratory insufficiency, usually in the second year. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for TNNT1 (see all 27):    About MalaCards
    nemaline myopathy 5    leukorrhea    nemaline myopathy 5, amish type    pectus carinatum
    tnnt1-related nemaline myopathy    myopathy    nemaline myopathy    restrictive cardiomyopathy
    pulmonary embolism    hypertrophic cardiomyopathy    familial hypertrophic cardiomyopathy    tremor
    charcot-marie-tooth disease    myotonic dystrophy    tooth disease    familial hypercholesterolemia
    hypotonia    acute myocardial infarction    dilated cardiomyopathy    hypercholesterolemia

    2 diseases from the University of Copenhagen DISEASES database for TNNT1:
    Nemaline myopathy     Leukorrhea

    TNNT1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for TNNT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myopathies nemaline 90.5 3 15665378 (1), 12732643 (1)
    myopathy 55.2 3 17603127 (1)
    atrophy 9.66 1 12732643 (1)

    GeneTests: TNNT1
    GeneReviews: TNNT1
    Genetic Association Database (GAD): TNNT1
    Human Genome Epidemiology (HuGE) Navigator: TNNT1 (3 documents)

    Export disorders for TNNT1 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 TNNT1 gene, integrated from 10 sources (see all 74):
    (articles sorted by number of sources associating them with TNNT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Close physical linkage of human troponin genes: organization, sequence, and expression of the locus encoding cardiac troponin I and slow skeletal troponin T. (PubMed id 10191089)1, 2, 9 Barton P.J.R.... Yacoub M.H. (Genomics 1999)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    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. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. (PubMed id 10952871)1, 2 Johnston J.J.... Biesecker L.G. (Am. J. Hum. Genet. 2000)
    5. A new human slow skeletal troponin T (TnTs) mRNA isoform derived from alternative splicing of a single gene. (PubMed id 8135831)1, 2 Samson F.... Gilbert J.R. (Biochem. Biophys. Res. Commun. 1994)
    6. Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene. (PubMed id 8403232)1, 2 Novelli G.... Dallapiccola B. (Cell Biochem. Funct. 1993)
    7. Assignment of the human slow skeletal troponin T gene to 19q13.4 using somatic cell hybrids and fluorescence in situ hybridization analysis. (PubMed id 1505979)1, 3 Samson F....Gilbert J.R. (Genomics 1992)
    8. Alternative splicing generates variants in important functional domains of human slow skeletal troponin T. (PubMed id 2824479)1, 2 Gahlmann R.... Kedes L. (J. Biol. Chem. 1987)
    9. A recombinant monocysteine mutant (Ser to Cys-155) of fast skeletal troponin T: identification by cross-linking of a domain involved in a physiologically relevant interaction with troponins C and I. (PubMed id 9724539)1, 9 Jha P.K. and Sarkar S. (Biochemistry 1998)
    10. Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy. (PubMed id 15665378)1, 9 Wang X.... Jin J.P. (J. Biol. Chem. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      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)
    About This Section

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    Entrez Gene: 7138 HGNC: 11948 AceView: TNNT1 Ensembl:ENSG00000105048 euGenes: HUgn7138
    ECgene: TNNT1 H-InvDB: TNNT1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for TNNT1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TNNT1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TNNT1 gene:
    Search GeneIP for patents involving TNNT1

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



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