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Q13061

- TRDN_HUMAN

UniProt

Q13061 - TRDN_HUMAN

Protein

Triadin

Gene

TRDN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 4 (28 Jun 2011)
      Previous versions | rss
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    Functioni

    May be involved in anchoring calsequestrin to the junctional sarcoplasmic reticulum and allowing its functional coupling with the ryanodine receptor.By similarity

    GO - Molecular functioni

    1. ion channel binding Source: BHF-UCL
    2. protein binding Source: BHF-UCL
    3. protein binding, bridging Source: BHF-UCL
    4. protein homodimerization activity Source: BHF-UCL

    GO - Biological processi

    1. cellular calcium ion homeostasis Source: BHF-UCL
    2. cytoplasmic microtubule organization Source: BHF-UCL
    3. endoplasmic reticulum membrane organization Source: BHF-UCL
    4. heart contraction Source: BHF-UCL
    5. ion transmembrane transport Source: Reactome
    6. muscle contraction Source: ProtInc
    7. myotube differentiation Source: Ensembl
    8. negative regulation of ryanodine-sensitive calcium-release channel activity Source: BHF-UCL
    9. positive regulation of cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCL
    10. positive regulation of ryanodine-sensitive calcium-release channel activity Source: BHF-UCL
    11. regulation of cardiac muscle cell membrane potential Source: BHF-UCL
    12. regulation of cell communication by electrical coupling Source: BHF-UCL
    13. regulation of release of sequestered calcium ion into cytosol Source: BHF-UCL
    14. regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum Source: BHF-UCL
    15. release of sequestered calcium ion into cytosol by sarcoplasmic reticulum Source: BHF-UCL
    16. response to organic cyclic compound Source: Ensembl
    17. transmembrane transport Source: Reactome

    Enzyme and pathway databases

    ReactomeiREACT_160189. Stimuli-sensing channels.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Triadin
    Gene namesi
    Name:TRDN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:12261. TRDN.

    Subcellular locationi

    Cell membrane 1 Publication. Sarcoplasmic reticulum membrane 1 Publication; Single-pass type II membrane protein 1 Publication

    GO - Cellular componenti

    1. calcium channel complex Source: Ensembl
    2. cytoplasm Source: UniProtKB
    3. endoplasmic reticulum Source: BHF-UCL
    4. integral component of membrane Source: ProtInc
    5. junctional membrane complex Source: BHF-UCL
    6. junctional sarcoplasmic reticulum membrane Source: BHF-UCL
    7. plasma membrane Source: UniProtKB
    8. sarcoplasmic reticulum Source: BHF-UCL
    9. sarcoplasmic reticulum lumen Source: BHF-UCL
    10. sarcoplasmic reticulum membrane Source: BHF-UCL

    Keywords - Cellular componenti

    Cell membrane, Membrane, Sarcoplasmic reticulum

    Pathology & Biotechi

    Involvement in diseasei

    Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (CPVT5) [MIM:615441]: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, or sudden death after physical activity or emotional stress. Some patients have muscle weakness.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti59 – 591T → R in CPVT5; results in intracellular retention and degradation of the mutant protein. 1 Publication
    VAR_067350

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi615441. phenotype.
    Orphaneti3286. Catecholaminergic polymorphic ventricular tachycardia.
    PharmGKBiPA36941.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 729729TriadinPRO_0000065626Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi75 – 751N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi270 – 270InterchainBy similarity
    Glycosylationi647 – 6471N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi691 – 691InterchainBy similarity

    Post-translational modificationi

    Phosphorylated by CaMK2.By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    PaxDbiQ13061.
    PRIDEiQ13061.

    PTM databases

    PhosphoSiteiQ13061.

    Expressioni

    Gene expression databases

    ArrayExpressiQ13061.
    BgeeiQ13061.
    CleanExiHS_TRDN.
    GenevestigatoriQ13061.

    Organism-specific databases

    HPAiHPA038226.

    Interactioni

    Subunit structurei

    Homooligomer of variable subunit number; disulfide-linked. Interacts with RYR1 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi115627. 4 interactions.
    STRINGi9606.ENSP00000381227.

    Structurei

    3D structure databases

    ProteinModelPortaliQ13061.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 4747CytoplasmicAdd
    BLAST
    Topological domaini69 – 729661LumenalAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei48 – 6821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG85242.
    HOGENOMiHOG000015240.
    HOVERGENiHBG014932.
    OMAiEKHVEPA.
    TreeFamiTF350396.

    Family and domain databases

    InterProiIPR007943. Asp-B-hydro/Triadin_dom.
    IPR010798. Triadin.
    [Graphical view]
    PANTHERiPTHR14106. PTHR14106. 1 hit.
    PfamiPF05279. Asp-B-Hydro_N. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q13061-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MTEITAEGNA STTTTVIDSK NGSVPKSPGK VLKRTVTEDI VTTFSSPAAW    50
    LLVIALIITW SAVAIVMFDL VDYKNFSASS IAKIGSDPLK LVRDAMEETT 100
    DWIYGFFSLL SDIISSEDEE DDDGDEDTDK GEIDEPPLRK KEIHKDKTEK 150
    QEKPERKIQT KVTHKEKEKG KEKVREKEKP EKKATHKEKI EKKEKPETKT 200
    LAKEQKKAKT AEKSEEKTKK EVKGGKQEKV KQTAAKVKEV QKTPSKPKEK 250
    EDKEKAAVSK HEQKDQYAFC RYMIDIFVHG DLKPGQSPAI PPPLPTEQAS 300
    RPTPASPALE EKEGEKKKAE KKVTSETKKK EKEDIKKKSE KETAIDVEKK 350
    EPGKASETKQ GTVKIAAQAA AKKDEKKEDS KKTKKPAEVE QPKGKKQEKK 400
    EKHVEPAKSP KKEHSVPSDK QVKAKTERAK EEIGAVSIKK AVPGKKEEKT 450
    TKTVEQEIRK EKSGKTSSIL KDKEPIKGKE EKVPASLKEK EPETKKDEKM 500
    SKAGKEVKPK PPQLQGKKEE KPEPQIKKEA KPAISEKVQI HKQDIVKPEK 550
    TVSHGKPEEK VLKQVKAVTI EKTAKPKPTK KAEHREREPP SIKTDKPKPT 600
    PKGTSEVTES GKKKTEISEK ESKEKADMKH LREEKVSTRK ESLQLHNVTK 650
    AEKPARVSKD VEDVPASKKA KEGTEDVSPT KQKSPISFFQ CVYLDGYNGY 700
    GFQFPFTPAD RPGESSGQAN SPGQKQQGQ 729
    Length:729
    Mass (Da):81,595
    Last modified:June 28, 2011 - v4
    Checksum:i0D9653203D52FA05
    GO
    Isoform 2 (identifier: Q13061-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         265-284: Missing.
         311-317: EKEGEKK → GKYFFFS
         318-729: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:297
    Mass (Da):33,236
    Checksum:i22038B4C91C9D74C
    GO
    Isoform 3 (identifier: Q13061-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         162-167: VTHKEK → EVGHSS
         168-729: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:167
    Mass (Da):18,468
    Checksum:iBB82F39A8FE2F9EA
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti59 – 591T → R in CPVT5; results in intracellular retention and degradation of the mutant protein. 1 Publication
    VAR_067350
    Natural varianti128 – 1281T → S.1 Publication
    Corresponds to variant rs9490809 [ dbSNP | Ensembl ].
    VAR_057008
    Natural varianti201 – 2011L → V.2 Publications
    Corresponds to variant rs6902416 [ dbSNP | Ensembl ].
    VAR_065263
    Natural varianti339 – 3391S → N.
    Corresponds to variant rs35766971 [ dbSNP | Ensembl ].
    VAR_057009
    Natural varianti396 – 3961K → N.
    Corresponds to variant rs6901953 [ dbSNP | Ensembl ].
    VAR_065264
    Natural varianti404 – 4041V → G.
    Corresponds to variant rs28494009 [ dbSNP | Ensembl ].
    VAR_057010
    Natural varianti419 – 4191D → E.
    Corresponds to variant rs17737379 [ dbSNP | Ensembl ].
    VAR_057011
    Natural varianti438 – 4381I → S.1 Publication
    Corresponds to variant rs2873479 [ dbSNP | Ensembl ].
    VAR_065265
    Natural varianti470 – 4701L → M.
    Corresponds to variant rs6569336 [ dbSNP | Ensembl ].
    VAR_057012
    Natural varianti540 – 5401I → M.
    Corresponds to variant rs7771303 [ dbSNP | Ensembl ].
    VAR_057013

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei162 – 1676VTHKEK → EVGHSS in isoform 3. 1 PublicationVSP_045561
    Alternative sequencei168 – 729562Missing in isoform 3. 1 PublicationVSP_045562Add
    BLAST
    Alternative sequencei265 – 28420Missing in isoform 2. 1 PublicationVSP_045563Add
    BLAST
    Alternative sequencei311 – 3177EKEGEKK → GKYFFFS in isoform 2. 1 PublicationVSP_045564
    Alternative sequencei318 – 729412Missing in isoform 2. 1 PublicationVSP_045565Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U18985 mRNA. Translation: AAA75315.1.
    AL133257 Genomic DNA. No translation available.
    AL357352 Genomic DNA. No translation available.
    AL445259 Genomic DNA. No translation available.
    AL603902 Genomic DNA. No translation available.
    AL603911 Genomic DNA. No translation available.
    BC070290 mRNA. Translation: AAH70290.1.
    BC139910 mRNA. Translation: AAI39911.1.
    CCDSiCCDS55053.1. [Q13061-1]
    CCDS59034.1. [Q13061-2]
    CCDS59035.1. [Q13061-3]
    PIRiS68191.
    RefSeqiNP_001242949.1. NM_001256020.1. [Q13061-2]
    NP_001242951.1. NM_001256022.1. [Q13061-3]
    NP_006064.2. NM_006073.3. [Q13061-1]
    UniGeneiHs.144744.

    Genome annotation databases

    EnsembliENST00000542443; ENSP00000437684; ENSG00000186439. [Q13061-3]
    ENST00000546248; ENSP00000439281; ENSG00000186439. [Q13061-2]
    GeneIDi10345.
    KEGGihsa:10345.
    UCSCiuc003pzj.2. human. [Q13061-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U18985 mRNA. Translation: AAA75315.1 .
    AL133257 Genomic DNA. No translation available.
    AL357352 Genomic DNA. No translation available.
    AL445259 Genomic DNA. No translation available.
    AL603902 Genomic DNA. No translation available.
    AL603911 Genomic DNA. No translation available.
    BC070290 mRNA. Translation: AAH70290.1 .
    BC139910 mRNA. Translation: AAI39911.1 .
    CCDSi CCDS55053.1. [Q13061-1 ]
    CCDS59034.1. [Q13061-2 ]
    CCDS59035.1. [Q13061-3 ]
    PIRi S68191.
    RefSeqi NP_001242949.1. NM_001256020.1. [Q13061-2 ]
    NP_001242951.1. NM_001256022.1. [Q13061-3 ]
    NP_006064.2. NM_006073.3. [Q13061-1 ]
    UniGenei Hs.144744.

    3D structure databases

    ProteinModelPortali Q13061.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115627. 4 interactions.
    STRINGi 9606.ENSP00000381227.

    PTM databases

    PhosphoSitei Q13061.

    Proteomic databases

    PaxDbi Q13061.
    PRIDEi Q13061.

    Protocols and materials databases

    DNASUi 10345.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000542443 ; ENSP00000437684 ; ENSG00000186439 . [Q13061-3 ]
    ENST00000546248 ; ENSP00000439281 ; ENSG00000186439 . [Q13061-2 ]
    GeneIDi 10345.
    KEGGi hsa:10345.
    UCSCi uc003pzj.2. human. [Q13061-1 ]

    Organism-specific databases

    CTDi 10345.
    GeneCardsi GC06M123580.
    GeneReviewsi TRDN.
    H-InvDB HIX0032833.
    HGNCi HGNC:12261. TRDN.
    HPAi HPA038226.
    MIMi 603283. gene.
    615441. phenotype.
    neXtProti NX_Q13061.
    Orphaneti 3286. Catecholaminergic polymorphic ventricular tachycardia.
    PharmGKBi PA36941.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG85242.
    HOGENOMi HOG000015240.
    HOVERGENi HBG014932.
    OMAi EKHVEPA.
    TreeFami TF350396.

    Enzyme and pathway databases

    Reactomei REACT_160189. Stimuli-sensing channels.

    Miscellaneous databases

    GeneWikii Triadin.
    GenomeRNAii 10345.
    NextBioi 39231.
    PROi Q13061.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q13061.
    Bgeei Q13061.
    CleanExi HS_TRDN.
    Genevestigatori Q13061.

    Family and domain databases

    InterProi IPR007943. Asp-B-hydro/Triadin_dom.
    IPR010798. Triadin.
    [Graphical view ]
    PANTHERi PTHR14106. PTHR14106. 1 hit.
    Pfami PF05279. Asp-B-Hydro_N. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of the cDNA encoding human skeletal muscle triadin and its localisation to chromosome 6q22-6q23."
      Taske N.L., Eyre H.J., O'Brien R.O., Sutherland G.R., Denborough M.A., Foster P.S.
      Eur. J. Biochem. 233:258-265(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS VAL-201 AND SER-438.
      Tissue: Skeletal muscle.
    2. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANTS SER-128 AND VAL-201.
      Tissue: Skeletal muscle.
    4. Cited for: SUBCELLULAR LOCATION, VARIANT CPVT5 ARG-59, CHARACTERIZATION OF VARIANT CPVT5 ARG-59.

    Entry informationi

    Entry nameiTRDN_HUMAN
    AccessioniPrimary (citable) accession number: Q13061
    Secondary accession number(s): A5D6W5, F5H2W7, Q6NSB8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: June 28, 2011
    Last modified: October 1, 2014
    This is version 108 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3