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Q13061

- TRDN_HUMAN

UniProt

Q13061 - TRDN_HUMAN

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Protein
Triadin
Gene
TRDN
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4747Cytoplasmic
Add
BLAST
Transmembranei48 – 6821Helical; Reviewed prediction
Add
BLAST
Topological domaini69 – 729661Lumenal
Add
BLAST

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 – 729729Triadin
PRO_0000065626Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi75 – 751N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi270 – 270Interchain By similarity
Glycosylationi647 – 6471N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi691 – 691Interchain By 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.

Protein-protein interaction databases

BioGridi115627. 4 interactions.
STRINGi9606.ENSP00000381227.

Structurei

3D structure databases

ProteinModelPortaliQ13061.

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.
VSP_045561
Alternative sequencei168 – 729562Missing in isoform 3.
VSP_045562Add
BLAST
Alternative sequencei265 – 28420Missing in isoform 2.
VSP_045563Add
BLAST
Alternative sequencei311 – 3177EKEGEKK → GKYFFFS in isoform 2.
VSP_045564
Alternative sequencei318 – 729412Missing in isoform 2.
VSP_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

EnsembliENST00000398178; ENSP00000381240; ENSG00000186439. [Q13061-1]
ENST00000542443; 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 ENST00000398178 ; ENSP00000381240 ; ENSG00000186439 . [Q13061-1 ]
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 107 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

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