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Q13061 (TRDN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Triadin
Gene names
Name:TRDN
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length729 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

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

Subcellular location

Cell membrane. Sarcoplasmic reticulum membrane; Single-pass type II membrane protein Ref.4.

Post-translational modification

Phosphorylated by CaMK2 By similarity.

Involvement in disease

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. Ref.4

Ontologies

Keywords
   Cellular componentCell membrane
Membrane
Sarcoplasmic reticulum
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainTransmembrane
Transmembrane helix
   PTMDisulfide bond
Glycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcellular calcium ion homeostasis

Inferred from sequence or structural similarity. Source: BHF-UCL

cytoplasmic microtubule organization

Inferred from sequence or structural similarity. Source: BHF-UCL

endoplasmic reticulum membrane organization

Inferred from sequence or structural similarity. Source: BHF-UCL

heart contraction

Inferred from mutant phenotype Ref.4. Source: BHF-UCL

ion transmembrane transport

Traceable author statement. Source: Reactome

muscle contraction

Traceable author statement Ref.1. Source: ProtInc

myotube differentiation

Inferred from electronic annotation. Source: Ensembl

negative regulation of ryanodine-sensitive calcium-release channel activity

Traceable author statement PubMed 17569730. Source: BHF-UCL

positive regulation of cell communication by electrical coupling involved in cardiac conduction

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of ryanodine-sensitive calcium-release channel activity

Inferred from sequence or structural similarity. Source: BHF-UCL

regulation of cardiac muscle cell membrane potential

Inferred from sequence or structural similarity. Source: BHF-UCL

regulation of cell communication by electrical coupling

Traceable author statement PubMed 19567751. Source: BHF-UCL

regulation of release of sequestered calcium ion into cytosol

Traceable author statement PubMed 19567751. Source: BHF-UCL

regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum

Inferred from sequence or structural similarity. Source: BHF-UCL

release of sequestered calcium ion into cytosol by sarcoplasmic reticulum

Inferred from sequence or structural similarity. Source: BHF-UCL

response to organic cyclic compound

Inferred from electronic annotation. Source: Ensembl

transmembrane transport

Traceable author statement. Source: Reactome

   Cellular_componentcalcium channel complex

Inferred from electronic annotation. Source: Ensembl

cytoplasm

Inferred from direct assay PubMed 11026130. Source: UniProtKB

endoplasmic reticulum

Inferred from sequence or structural similarity. Source: BHF-UCL

integral component of membrane

Traceable author statement Ref.1. Source: ProtInc

junctional membrane complex

Inferred from sequence or structural similarity. Source: BHF-UCL

junctional sarcoplasmic reticulum membrane

Inferred from sequence or structural similarity. Source: BHF-UCL

plasma membrane

Inferred from direct assay PubMed 11026130. Source: UniProtKB

sarcoplasmic reticulum

Inferred from sequence or structural similarity. Source: BHF-UCL

sarcoplasmic reticulum lumen

Traceable author statement PubMed 17569730. Source: BHF-UCL

sarcoplasmic reticulum membrane

Traceable author statement PubMed 11504710. Source: BHF-UCL

   Molecular_functionion channel binding

Inferred from sequence or structural similarity. Source: BHF-UCL

protein binding

Inferred from physical interaction PubMed 17526652. Source: BHF-UCL

protein binding, bridging

Inferred from sequence or structural similarity. Source: BHF-UCL

protein homodimerization activity

Inferred from sequence or structural similarity. Source: BHF-UCL

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q13061-1)

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.
Isoform 2 (identifier: Q13061-2)

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.
Isoform 3 (identifier: Q13061-3)

The sequence of this isoform differs from the canonical sequence as follows:
     162-167: VTHKEK → EVGHSS
     168-729: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 729729Triadin
PRO_0000065626

Regions

Topological domain1 – 4747Cytoplasmic
Transmembrane48 – 6821Helical; Potential
Topological domain69 – 729661Lumenal

Amino acid modifications

Glycosylation751N-linked (GlcNAc...) Potential
Glycosylation6471N-linked (GlcNAc...) Potential
Disulfide bond270Interchain By similarity
Disulfide bond691Interchain By similarity

Natural variations

Alternative sequence162 – 1676VTHKEK → EVGHSS in isoform 3.
VSP_045561
Alternative sequence168 – 729562Missing in isoform 3.
VSP_045562
Alternative sequence265 – 28420Missing in isoform 2.
VSP_045563
Alternative sequence311 – 3177EKEGEKK → GKYFFFS in isoform 2.
VSP_045564
Alternative sequence318 – 729412Missing in isoform 2.
VSP_045565
Natural variant591T → R in CPVT5; results in intracellular retention and degradation of the mutant protein. Ref.4
VAR_067350
Natural variant1281T → S. Ref.3
Corresponds to variant rs9490809 [ dbSNP | Ensembl ].
VAR_057008
Natural variant2011L → V. Ref.1 Ref.3
Corresponds to variant rs6902416 [ dbSNP | Ensembl ].
VAR_065263
Natural variant3391S → N.
Corresponds to variant rs35766971 [ dbSNP | Ensembl ].
VAR_057009
Natural variant3961K → N.
Corresponds to variant rs6901953 [ dbSNP | Ensembl ].
VAR_065264
Natural variant4041V → G.
Corresponds to variant rs28494009 [ dbSNP | Ensembl ].
VAR_057010
Natural variant4191D → E.
Corresponds to variant rs17737379 [ dbSNP | Ensembl ].
VAR_057011
Natural variant4381I → S. Ref.1
Corresponds to variant rs2873479 [ dbSNP | Ensembl ].
VAR_065265
Natural variant4701L → M.
Corresponds to variant rs6569336 [ dbSNP | Ensembl ].
VAR_057012
Natural variant5401I → M.
Corresponds to variant rs7771303 [ dbSNP | Ensembl ].
VAR_057013

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 28, 2011. Version 4.
Checksum: 0D9653203D52FA05

FASTA72981,595
        10         20         30         40         50         60 
MTEITAEGNA STTTTVIDSK NGSVPKSPGK VLKRTVTEDI VTTFSSPAAW LLVIALIITW 

        70         80         90        100        110        120 
SAVAIVMFDL VDYKNFSASS IAKIGSDPLK LVRDAMEETT DWIYGFFSLL SDIISSEDEE 

       130        140        150        160        170        180 
DDDGDEDTDK GEIDEPPLRK KEIHKDKTEK QEKPERKIQT KVTHKEKEKG KEKVREKEKP 

       190        200        210        220        230        240 
EKKATHKEKI EKKEKPETKT LAKEQKKAKT AEKSEEKTKK EVKGGKQEKV KQTAAKVKEV 

       250        260        270        280        290        300 
QKTPSKPKEK EDKEKAAVSK HEQKDQYAFC RYMIDIFVHG DLKPGQSPAI PPPLPTEQAS 

       310        320        330        340        350        360 
RPTPASPALE EKEGEKKKAE KKVTSETKKK EKEDIKKKSE KETAIDVEKK EPGKASETKQ 

       370        380        390        400        410        420 
GTVKIAAQAA AKKDEKKEDS KKTKKPAEVE QPKGKKQEKK EKHVEPAKSP KKEHSVPSDK 

       430        440        450        460        470        480 
QVKAKTERAK EEIGAVSIKK AVPGKKEEKT TKTVEQEIRK EKSGKTSSIL KDKEPIKGKE 

       490        500        510        520        530        540 
EKVPASLKEK EPETKKDEKM SKAGKEVKPK PPQLQGKKEE KPEPQIKKEA KPAISEKVQI 

       550        560        570        580        590        600 
HKQDIVKPEK TVSHGKPEEK VLKQVKAVTI EKTAKPKPTK KAEHREREPP SIKTDKPKPT 

       610        620        630        640        650        660 
PKGTSEVTES GKKKTEISEK ESKEKADMKH LREEKVSTRK ESLQLHNVTK AEKPARVSKD 

       670        680        690        700        710        720 
VEDVPASKKA KEGTEDVSPT KQKSPISFFQ CVYLDGYNGY GFQFPFTPAD RPGESSGQAN 


SPGQKQQGQ 

« Hide

Isoform 2 [UniParc].

Checksum: 22038B4C91C9D74C
Show »

FASTA29733,236
Isoform 3 [UniParc].

Checksum: BB82F39A8FE2F9EA
Show »

FASTA16718,468

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human."
Roux-Buisson N., Cacheux M., Fourest-Lieuvin A., Fauconnier J., Brocard J., Denjoy I., Durand P., Guicheney P., Kyndt F., Leenhardt A., Le Marec H., Lucet V., Mabo P., Probst V., Monnier N., Ray P.F., Santoni E., Tremeaux P. expand/collapse author list , Lacampagne A., Faure J., Lunardi J., Marty I.
Hum. Mol. Genet. 21:2759-2767(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, VARIANT CPVT5 ARG-59, CHARACTERIZATION OF VARIANT CPVT5 ARG-59.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS55053.1. [Q13061-1]
CCDS59034.1. [Q13061-2]
CCDS59035.1. [Q13061-3]
PIRS68191.
RefSeqNP_001242949.1. NM_001256020.1. [Q13061-2]
NP_001242951.1. NM_001256022.1. [Q13061-3]
NP_006064.2. NM_006073.3. [Q13061-1]
UniGeneHs.144744.

3D structure databases

ProteinModelPortalQ13061.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115627. 4 interactions.
STRING9606.ENSP00000381227.

PTM databases

PhosphoSiteQ13061.

Proteomic databases

PaxDbQ13061.
PRIDEQ13061.

Protocols and materials databases

DNASU10345.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000398178; ENSP00000381240; ENSG00000186439. [Q13061-1]
ENST00000542443; ENSP00000437684; ENSG00000186439. [Q13061-3]
ENST00000546248; ENSP00000439281; ENSG00000186439. [Q13061-2]
GeneID10345.
KEGGhsa:10345.
UCSCuc003pzj.2. human. [Q13061-1]

Organism-specific databases

CTD10345.
GeneCardsGC06M123580.
GeneReviewsTRDN.
H-InvDBHIX0032833.
HGNCHGNC:12261. TRDN.
HPAHPA038226.
MIM603283. gene.
615441. phenotype.
neXtProtNX_Q13061.
Orphanet3286. Catecholaminergic polymorphic ventricular tachycardia.
PharmGKBPA36941.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG85242.
HOGENOMHOG000015240.
HOVERGENHBG014932.
OMAEKHVEPA.
TreeFamTF350396.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ13061.
BgeeQ13061.
CleanExHS_TRDN.
GenevestigatorQ13061.

Family and domain databases

InterProIPR007943. Asp-B-hydro/Triadin_dom.
IPR010798. Triadin.
[Graphical view]
PANTHERPTHR14106. PTHR14106. 1 hit.
PfamPF05279. Asp-B-Hydro_N. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiTriadin.
GenomeRNAi10345.
NextBio39231.
PROQ13061.
SOURCESearch...

Entry information

Entry nameTRDN_HUMAN
AccessionPrimary (citable) accession number: Q13061
Secondary accession number(s): A5D6W5, F5H2W7, Q6NSB8
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: June 28, 2011
Last modified: July 9, 2014
This is version 106 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM