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FLASH GENE
Symbol TRDN contributors: mct/npt - updated : 09-05-2016
HGNC name triadin
HGNC id 12261
Corresponding disease
CPVT5 catecholaminergic polymorphic ventricular tachycardia 5, with or without muscle weakness
Location 6q22.31      Physical location : 123.537.482 - 123.957.942
Synonym name triadin skeletal 51
Synonym symbol(s) SMTRD, TDN, TRIADIN, TRISK, TRISK51, MGC88285, DKFZp779I2253, dJ166D18.1 (triadin), CPVT5
DNA
TYPE functioning gene
STRUCTURE 420.75 kb     41 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Physical map
ASF1A 6q22.32 ASF1 anti-silencing function 1 homolog A (S. cerevisiae) MCMDC1 6q22.31 minichromosome maintenance deficient domain containing 1 C6orf60 6q22.31 chromosome 6 open reading frame 60 MAN1A1 6q22 mannosidase, alpha, class 1A, member 1 C6orf170 6q22.32 chromosome 6 open reading frame 170 GJA1 6q22.3 gap junction protein, alpha 1, 43kDa (connexin 43) LOC260339 6q22.32 processed pseudogene mtTFA 3 LOC391966 6 similar to ADP,ATP carrier protein, fibroblast isoform (ADP/ATP translocase 2) (Adenine nucleotide translocator 2) (ANT 2) LOC391967 6 similar to 60S ribosomal protein L23a HSF2 6q22.33 heat shock transcription factor 2 TDE2 6q22.32 tumor differentially expressed 2 PKIB 6q22.32 protein kinase (cAMP-dependent, catalytic) inhibitor beta FABP7 6q22-q23 fatty acid binding protein 7, brain SMPDL3A 6q22.32 sphingomyelin phosphodiesterase, acid-like 3A C6orf213 6q22.32 chromosome 6 open reading frame 213 TRDN 6q22-q23 triadin TCBA1 6q21-q22 T-cell lymphoma breakpoint associated target 1 IBRDC1 6q22.33 IBR domain containing 1 TPD52L1 6q22-q23 tumor protein D52-like 1 C6orf74 6q13-q24.3 chromosome 6 open reading frame 74 LOC256096 6q22.33 hypothetical LOC256096 HEY2 6q22.2-q22.33 hairy/enhancer-of-split related with YRPW motif 2 NCOA7 6q22.33 nuclear receptor coactivator 7 HINT3 6q22.33 histidine triad nucleotide binding protein 3 C6orf75 6q11.1-q22.33 chromosome 6 open reading frame 75 LOC391968 6 similar to PPP1R14B protein LOC389426 6 LOC389426 LOC391969 6 similar to ribosomal protein S4, X-linked LOC389427 6 similar to MGC32805 protein THSD2 6q22.33 thrombospondin, type I, domain 2 RNF146 6q22.1-q22.33 ring finger protein 146 ECHDC1 6q22.33 enoyl Coenzyme A hydratase domain containing 1 LOC246737 6q23.1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene LOC389428 6 similar to ribosomal protein L5; 60S ribosomal protein L5 KIAA0408 6q22.33 KIAA0408
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - - 95 - cardiac 2012 22505613
  • able to block the depolarization-induced calcium release
  • located within the triad and associated with RyR
  • when ectopically expressed, Trisk 95 can modulate reticulum membrane morphology
  • TRISK95 200-231 region is responsible for RYR1 activation (PMID: 22937102)
  • 21 - 4763 51 463 major triadin isoform expressed in human skeletal muscle 2012 22505613
  • also called TRISK51
  • located within the triad and associated with RyR
  • 41 - 4782 - 729 - 2012 22505613
    9 - 1864 32 297 - 2012 22505613
  • also called TRISK32
  • 1020p100 of all triadins
  • mainly in the longitudinal sarcoplasmic reticulum associated with the inositol trisphosphate receptor
  • its overexpression had no effect on store-operated Ca(2+) entry, despite a decrease in the expression of STIM1
  • not only co-localizes with, but directly contributes to, the regulation of Ca(2+) release via IP(3)R (PMID: 21811790)
  • 9 - 3002 - 286 - 2012 22505613
    6 - 1413 - 167 - 2012 22505613
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac highly
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a transmembrane segment including repeated KEKE (GLU-LYS-GLU-LYS) motifs important for macromolecular protein-protein interactions within their SR luminal tails (Fan 2008)
  • a short cytoplasmic tail
  • three regions, named TR1 (targeting region 1), TR2 and TR3, that contribute to the localization of triadin at the j-SR (junctional domain of the sarcoplasmic reticulum), and TR3 contains binding sites for CASQ1 and triadin clustering can be enhanced by binding to CASQ1
  • HOMOLOGY
    interspecies homolog to C.elegans C14H10.2
    intraspecies homolog to ASPH
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • junction of sarcoplasmic reticulum type II membrane protein
  • with CASQ2, are located in specialized areas of the sarcoplasmic reticulum (SR) where the SR forms junctions with the sarcolemma (junctional SR) (Knollmann 2009)
  • basic FUNCTION
  • putatively involved in excitation/contraction coupling
  • may be be involved in the set up and maintenance of a precise sarcoplasmic reticulum structure
  • may be involved in anchoring calsequestrin to the junctional sarcoplasmic reticulum and allowing its functional coupling with the ryanodine receptor
  • indirect role for triadin in regulating myoplasmic Ca(2+) homeostasis and organizing the molecular complex of the triad but not in regulating skeletal-type excitation-contraction coupling (Shen 2007)
  • with CASQ2 are important for the structural organization of the SR (Knollmann 2009)
  • triadin and junctin are integral sarcoplasmic reticulum membrane proteins that form a macromolecular complex with the skeletal muscle ryanodine receptor (RYR1) (Wang 2009)
  • has a role in facilitating KCl depolarization-induced Ca2+ release in contrast to junctin which has a role in maintaining sarcoplasmic reticulum Ca2+ store size in myotubes (Wang 2009)
  • ASPH and TRDN each activate skeletal ryanodine receptors but ASPH alone mediates functional interactions with CASQ1
  • importance of triadin for the normal function of the cardiac calcium release complex
  • TRDN and ASPH are structurally related transmembrane proteins thought to be key mediators of structural and functional interactions between calsequestrin (CASQ1) and ryanodine receptor (RyRs) at the junctional sarcoplasmic reticulum
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cardiovascular
    PATHWAY
    metabolism
    signaling
    a component
  • homooligomer of variable subunit number, disulfide-linked
  • CASQ2, TRDN and ASPH form a protein complex that is associated with cardiac ryanodine receptor 2 (RYR2) SR Ca(2+) release channels (Knollmann 2009)
  • could be involved in maintaining triads during contraction, and in anchoring mitochondria close to triads (Oddoux 2009)
  • is an essential link within the calcium release complex (Oddoux 2009)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding and anchoring calsequestrin to the ryanodine receptor
  • interaction between RYR1 and triadin could play an active role in the overall Ca2+ release process of excitation-contraction coupling in muscle cells
  • role for CASQ1 in promoting the stable association of TRDN to the multiprotein complex associated with RYR
  • CASQ2, HRC and RYR2 share the same KEKE motif region on the distal part of TRDN (aa 202-231)
  • cell & other
    REGULATION
    Other contain N-linked glycans, but about half of triadin-1 in the heart remains unglycosylated (Milstein 2008)
    ASSOCIATED DISORDERS
    corresponding disease(s) CPVT5
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    displayed extensive T-wave inversions in precordial leads V1 through V4, with either persistent or transient QT prolongation and severe disease expression of exercise-induced cardiac arrest in early childhood
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    triadin KO mouse presents objective muscle dysfunctions and is, therefore, undoubtedly suffering from myopathy as identical energy consumption produced a reduced strength (Oddoux 2009)