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P13805 (TNNT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 133. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Troponin T, slow skeletal muscle

Short name=TnTs
Alternative name(s):
Slow skeletal muscle troponin T
Short name=sTnT
Gene names
Name:TNNT1
Synonyms:TNT
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length278 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Involvement in disease

Nemaline myopathy 5 (NEM5) [MIM:605355]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the troponin T family.

Sequence caution

The sequence AAH22086.2 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P13805-1)

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: P13805-2)

The sequence of this isoform differs from the canonical sequence as follows:
     25-35: Missing.
     205-220: Missing.
Isoform 3 (identifier: P13805-3)

The sequence of this isoform differs from the canonical sequence as follows:
     205-220: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 278278Troponin T, slow skeletal muscle
PRO_0000186168

Amino acid modifications

Modified residue21Phosphoserine; by CK2 By similarity

Natural variations

Alternative sequence25 – 3511Missing in isoform 2.
VSP_006639
Alternative sequence205 – 22016Missing in isoform 2 and isoform 3.
VSP_006640

Experimental info

Sequence conflict201E → D in AAA61204. Ref.1

Sequences

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

Last modified January 23, 2007. Version 4.
Checksum: D94DB18BC5804E04

FASTA27832,948
        10         20         30         40         50         60 
MSDTEEQEYE EEQPEEEAAE EEEEAPEEPE PVAEPEEERP KPSRPVVPPL IPPKIPEGER 

        70         80         90        100        110        120 
VDFDDIHRKR MEKDLLELQT LIDVHFEQRK KEEEELVALK ERIERRRSER AEQQRFRTEK 

       130        140        150        160        170        180 
ERERQAKLAE EKMRKEEEEA KKRAEDDAKK KKVLSNMGAH FGGYLVKAEQ KRGKRQTGRE 

       190        200        210        220        230        240 
MKVRILSERK KPLDIDYMGE EQLRARSAWL PPSQPSCPAR EKAQELSDWI HQLESEKFDL 

       250        260        270 
MAKLKQQKYE INVLYNRISH AQKFRKGAGK GRVGGRWK 

« Hide

Isoform 2 [UniParc].

Checksum: DA9E80D5F8B5DE19
Show »

FASTA25130,096
Isoform 3 [UniParc].

Checksum: 9CBA4A8DF3884CAF
Show »

FASTA26231,242

References

« Hide 'large scale' references
[1]"Alternative splicing generates variants in important functional domains of human slow skeletal troponin T."
Gahlmann R., Troutt A.B., Wade R.P., Gunning P., Kedes L.
J. Biol. Chem. 262:16122-16126(1987) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"A new human slow skeletal troponin T (TnTs) mRNA isoform derived from alternative splicing of a single gene."
Samson F., Mesnard L., Mihovilovic M., Potter T.G., Mercadier J.-J., Roses A.D., Gilbert J.R.
Biochem. Biophys. Res. Commun. 199:841-847(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Skeletal muscle.
[3]"Close physical linkage of human troponin genes: organization, sequence, and expression of the locus encoding cardiac troponin I and slow skeletal troponin T."
Barton P.J.R., Cullen M.E., Townsend P.J., Brand N.J., Mullen A.J., Norman D.A.M., Bhavsar P.K., Yacoub M.H.
Genomics 57:102-109(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1; 2 AND 3).
[4]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[5]"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] (ISOFORM 3).
Tissue: Skeletal muscle.
[6]"Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene."
Novelli G., Gennarelli M., Sangiuolo F., D'Agruma L., Lo Cicero S., Melchionda S., Dallapiccola B.
Cell Biochem. Funct. 11:187-191(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 254-278.
[7]"A novel nemaline myopathy in the Amish caused by a mutation in troponin T1."
Johnston J.J., Kelley R.I., Crawford T.O., Morton D.H., Agarwala R., Koch T., Schaeffer A.A., Francomano C.A., Biesecker L.G.
Am. J. Hum. Genet. 67:814-821(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN NEM5.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M19308 mRNA. Translation: AAA61205.1.
M19309 mRNA. Translation: AAA61204.1.
S69208 mRNA. Translation: AAB30272.1.
S69209 mRNA. Translation: AAB30273.1.
AJ011712, AJ011713 Genomic DNA. Translation: CAA09750.1.
AJ011712, AJ011713 Genomic DNA. Translation: CAA09751.1.
AJ011712, AJ011713 Genomic DNA. Translation: CAA09752.1.
BT019630 mRNA. Translation: AAV38436.1.
BC010963 mRNA. Translation: AAH10963.1.
BC022086 mRNA. Translation: AAH22086.2. Different initiation.
BC034143 mRNA. Translation: AAH34143.1.
S66057, S66170 Genomic DNA. Translation: AAD13978.1. Sequence problems.
PIRTPHUTW. A29783.
RefSeqNP_001119604.1. NM_001126132.1.
NP_001119605.1. NM_001126133.1.
NP_003274.3. NM_003283.4.
UniGeneHs.631558.

3D structure databases

ProteinModelPortalP13805.
SMRP13805. Positions 174-263.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112992. 46 interactions.
IntActP13805. 47 interactions.
MINTMINT-1410243.
STRING9606.ENSP00000291901.

PTM databases

PhosphoSiteP13805.

Polymorphism databases

DMDM1174800.

Proteomic databases

PaxDbP13805.
PRIDEP13805.

Protocols and materials databases

DNASU7138.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000291901; ENSP00000291901; ENSG00000105048. [P13805-3]
ENST00000356783; ENSP00000349233; ENSG00000105048. [P13805-2]
ENST00000587758; ENSP00000467789; ENSG00000105048. [P13805-2]
ENST00000588981; ENSP00000467176; ENSG00000105048. [P13805-1]
GeneID7138.
KEGGhsa:7138.
UCSCuc002qjb.4. human. [P13805-1]
uc002qjc.4. human. [P13805-3]
uc002qjd.4. human. [P13805-2]

Organism-specific databases

CTD7138.
GeneCardsGC19M055644.
HGNCHGNC:11948. TNNT1.
HPACAB015168.
MIM191041. gene.
605355. phenotype.
neXtProtNX_P13805.
Orphanet98902. Amish nemaline myopathy.
PharmGKBPA36637.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG299534.
HOGENOMHOG000231049.
HOVERGENHBG052790.
InParanoidP13805.
KOK10372.
OMAGREMKQR.
OrthoDBEOG7W155J.
PhylomeDBP13805.

Enzyme and pathway databases

ReactomeREACT_17044. Muscle contraction.

Gene expression databases

ArrayExpressP13805.
BgeeP13805.
CleanExHS_TNNT1.
GenevestigatorP13805.

Family and domain databases

InterProIPR027707. TNNT.
IPR001978. Troponin.
[Graphical view]
PANTHERPTHR11521. PTHR11521. 1 hit.
PfamPF00992. Troponin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTNNT1. human.
GeneWikiTNNT1.
GenomeRNAi7138.
NextBio27929.
PROP13805.
SOURCESearch...

Entry information

Entry nameTNNT1_HUMAN
AccessionPrimary (citable) accession number: P13805
Secondary accession number(s): O95472, Q16061, Q5U0E1
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: January 23, 2007
Last modified: March 19, 2014
This is version 133 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM