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

TNNT1 Gene

protein-coding   GIFtS: 62
GCID: GC19M055644

troponin T type 1 (skeletal, slow)

(Previous names: troponin T1, skeletal, slow )
 Explore 19 diseases affiliated with
TNNT1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TNNT1    

Aliases
for TNNT1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Troponin T Type 1 (Skeletal, Slow)1 2     MGC1042411
TNT1 2 3     Troponin T1, Skeletal, Slow1
ANM1 2 5     Nemaline Myopathy Type 52
NEM51 2     Troponin T, Slow Skeletal Muscle2
STNT1 2     Troponin-T1, Skeletal, Slow2
TNTS1 2     TnTs3
Slow Skeletal Muscle Troponin T2 3     STnT1
FLJ981471     

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


Summaries
for TNNT1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for TNNT1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences 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 plasmid: TNNT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TNNT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for TNNT1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P13805

    • TNNT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000467789   ENSP00000349233   ENSP00000291901   ENSP00000465991   ENSP00000467176  
     ENSP00000467881   ENSP00000465686   ENSP00000465544   ENSP00000467933   ENSP00000464843  
     ENSP00000467980   ENSP00000467299   ENSP00000439640  
    Reactome Protein details: P13805
    Human Recombinant Protein Products: 
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    OriGene Purified Protein: TNNT1
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    ProSpec Recombinant Protein for TNNT1
    Uscn Proteins for TNNT1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    TNNT1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TNNT1

    Protein Domains /
    Families
    for TNNT1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TNNT1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001978 Troponin

    Graphical View of Domain Structure for InterPro Entry P13805

    ProtoNet protein and cluster: P13805

    1 Blocks protein family: IPB001978 Troponin

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


    Function
    for TNNT1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate TNNT1:
    hsa-miR-498
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005523tropomyosin binding IMP15665378
    GO:0031014troponin T binding ----


    TNNT1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for TNNT1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Striated Muscle Contraction
    		Striated Muscle Contraction1.00
    		Muscle contraction0.65
    		Striated Muscle Contraction0.87

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for TNNT1 
        Striated Muscle Contraction

    2        Reactome Pathways for TNNT1
        Muscle contraction
    Striated Muscle Contraction



    TNNT1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TNNT1

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

    5/85 Interacting proteins for TNNT1 (P138052, 3 ENSP000002919014) via UniProtKB, MINT, STRING, and/or I2D (see all 85)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSMC5P621952, 3, ENSP000003105724MINT-67564 I2D: score=7 STRING: ENSP00000310572
    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
    ZMYND19Q96E352, 3, ENSP000002985854MINT-67556 I2D: score=4 STRING: ENSP00000298585
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    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 ----
    GO:0045932negative regulation of muscle contraction IDA18032382


    TNNT1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TNNT1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TNNT1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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 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)

    Search CenterWatch for drugs/clinical trials and news about TNNT1 

    Transcripts
    for TNNT1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000587758 ENST00000356783(uc002qje.4 uc002qjd.4 uc002qjf.2)
    ENST00000291901(uc002qjb.4 uc002qjc.4) ENST00000588426 ENST00000588981
    ENST00000593194 ENST00000589745 ENST00000589169 ENST00000589954 ENST00000587089
    ENST00000586350 ENST00000587465 ENST00000586649 ENST00000586088 ENST00000593046
    ENST00000585321 ENST00000589226 ENST00000592920

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TNNT1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate TNNT1:
    hsa-miR-498
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TNNT1 (see all 7)
    OriGene shRNA RFP: TNNT1
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    Clone
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    Primer
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    Additional cDNA 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 

    24/579 AceView cDNA sequences (see all 579):

    F24347 AW384522 F19296 F34710 AW384543 F27180 F31905 F37273 
    F19149 BE254104 F26570 F31694 AW384471 F36320 F30836 BP365012 
    F24781 AW384488 BU528787 F30787 F28231 AW384524 F29240 BU850035 

    GeneLoc Exon Structure


    Expression
    for TNNT1 gene

    (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

    TNNT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGGGAGGAAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TNNT1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/17 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 17) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbForelimb Dorsal MusclesMultinuclear MyocytesSkeletal Muscle
    LimbForelimb Ventral MusclesMultinuclear MyocytesSkeletal Muscle
    LimbHindlimb Dorsal MuscleMultinuclear MyocytesSkeletal Muscle
    LimbHindlimb Ventral MuscleMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleAnterior Neck MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleCervical Back MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleLumbar Back MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleLumbar Vertebrae Column MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MusclePelvic MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MusclePosterior Neck MusclesMultinuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

    See TNNT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TNNT1

    SOURCE GeneReport for Unigene cluster: Hs.631558
        SABiosciences Expression via Pathway-Focused PCR Arrays including TNNT1: 
              Growth Factors in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for TNNT1 gene

    (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.

    Orthologs for TNNT1 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Tnnt11 , 5 troponin T1, skeletal, slow1, 5 86.21(n)1
    95.02(a)1    		   7 (2.60 cM)5
    219551  NM_011618.11  NP_035748.11 
     45045705 
    lizard
    (Anolis carolinensis)    		 Reptilia TNNT16
    		 --
    		 86(a)
    		 1 ↔ 1
    		 GL343329.1(878755-895643)
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc:1938651 zgc:193865 66.92(n)
    71.65(a)    		   558627  NM_001128695.1  NP_001122167.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta up6
    		 upheld
    		 20(a)
    		 1 → many
    		 X(13487507-13496536)
    worm
    (Caenorhabditis elegans)    		 Secernentea tnt-36
    tnt-46
    (see all 4)    		 TropoNin T family member (tnt-4)
    (see all 4)    		 6(a)
    17(a)
    (see all 4)    		 many ↔ many
    many ↔ many
    (see all 4)    		 X(7937519-7945000)
    V(1989478-1992888)


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

    Paralogs
    for TNNT1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TNNT1 gene
    TNNT32  TNNT22  
    3 SIMAP similar genes for TNNT1 using alignment to 14 protein entries:     TNNT1_HUMAN (see all proteins):
    HNTN1    TNNT3    TNNT2

    TNNT1 for paralogs           About GeneDecksing



    Genomic Variants
    for TNNT1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/450 NCBI SNPs in TNNT1 are shown (see all 450)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs803582491,2
    		Cpathogenic55648544(-) GGCGGG/TAGATG 6 E * stg10--------
    rs8911861,2
    		C,F,O,H,untested55644442(-) TTCCTC/TTGGGC 3 -- int124Minor allele frequency- T:0.29MN EA NS NA WA 4020
    rs8911851,2
    		C,F,A,H,untested55644606(-) CCCCCC/AACCCT 3 -- int1 trp318Minor allele frequency- A:0.25NS EA NA WA 2342
    rs37608731,2
    		C,F,A,H,untested55648270(-) GCTGCC/TGTGGC 3 -- int121Minor allele frequency- T:0.29NS EA NA WA CSA 2346
    rs343133881,2
    		C,F,untested55652584(+) TCCTCT/CTCCTC 6 /E syn13Minor allele frequency- C:0.00NA WA 4740
    rs25609421,2
    		C,F,O,A,H,untested55652758(-) ACGGTC/TCAGTT 3 -- int130Minor allele frequency- N:0.00NS EA NA WA CSA 3277
    rs24344541,2
    		C,F,H,untested55657041(-) CCTGGG/TGTCCT 3 -- int17Minor allele frequency- T:0.14NS EA WA NA 776
    rs116695341,2
    		C,F,H,untested55658088(+) TGGGGG/ACACAG 3 -- int113Minor allele frequency- A:0.09NS EA NA EU 1948
    rs1125627591,2
    		C,F,untested55658387(+) GCTGCT/CCCCTG 6 /E /G mis13Minor allele frequency- C:0.07NA EU 4557
    rs283625921,2
    		C,untested55660499(-) GGTCTT/CCAAAA 3 -- int17Minor allele frequency- C:0.11MN EA NA WA 1614

    HapMap Linkage Disequilibrium report for TNNT1 (55644161 - 55660722 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for TNNT1
         2 CNVs: 8877 3201
         1 Indel: 102881
    Human Gene Mutation Database (HGMD): TNNT1

    Locus Specific Mutation Databases (LSDB): TNNT1

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for TNNT1 gene

    (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.)
    About This Section
    TNNT1 for disorders           About GeneDecksing

    OMIM gene information: 191041   
    OMIM disorders: 605355  
    UniProtKB/Swiss-Prot: TNNT1_HUMAN, P13805
  • Defects in TNNT1 are the cause of nemaline myopathy type 5 (NEM5) [MIM:605355]; also known as Amish nemaline
    • myopathy (ANM). A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle
    weakness of varying severity and onset, and abnormal thread-or rod-like 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

    19 diseases for TNNT1:    About MalaCards
    nemaline myopathy    myopathy    charcot-marie-tooth disease    pectus carinatum
    restrictive cardiomyopathy    hypertrophic cardiomyopathy    familial hypertrophic cardiomyopathy    leukorrhea
    myocardial infarction    acute myocardial infarction    pulmonary embolism    tooth disease
    myotonic dystrophy    cardiomyopathy    dilated cardiomyopathy    tremor
    hypotonia    hermaphroditism    ischemia

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

    3 Novoseek 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
    Nemaline Myopathy

    Human Genome Epidemiology (HuGE) Navigator: TNNT1 (3 documents)

    Export disorders for TNNT1 gene to outside databases

    Publications
    for TNNT1 gene

    (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 TNNT1 gene, integrated from 9 sources (see all 73):
    (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. (1999)
    2. 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)
    3. 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. (2000)
    4. 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. (1994)
    5. 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. (1993)
    6. 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. (1992)
    7. Alternative splicing generates variants in important functional domains of human slow skeletal troponin T. (PubMed id 2824479)1, 2 Gahlmann R.... Kedes L. (1987)
    8. 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. (1998)
    9. 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. (2005)
    10. Adaptation by alternative RNA splicing of slow troponin T isoforms in type 1 but not type 2 Charcot-Marie-Tooth disease. (PubMed id 18579801)1, 9 Larsson L....Jin J.P. (2008)

    External Searches for TNNT1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing TNNT1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7138 HGNC: 11948 AceView: TNNT1 Ensembl:ENSG00000105048 euGenes: HUgn7138
    ECgene: TNNT1 H-InvDB: TNNT1

    Other Databases showing TNNT1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TNNT1 gene

    (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 TNNT1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TNNT1

    Intellectual Property
    for TNNT1 gene

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

    GeneCards and IP:
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