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Protein

Troponin T, slow skeletal muscle

Gene

TNNT1

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

Functioni

Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

GO - Molecular functioni

  • tropomyosin binding Source: UniProtKB

GO - Biological processi

  • muscle filament sliding Source: Reactome
  • negative regulation of muscle contraction Source: UniProtKB
  • skeletal muscle contraction Source: UniProtKB
  • slow-twitch skeletal muscle fiber contraction Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Enzyme and pathway databases

ReactomeiREACT_16969. Striated Muscle Contraction.

Names & Taxonomyi

Protein namesi
Recommended name:
Troponin T, slow skeletal muscle
Short name:
TnTs
Alternative name(s):
Slow skeletal muscle troponin T
Short name:
sTnT
Gene namesi
Name:TNNT1
Synonyms:TNT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:11948. TNNT1.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • troponin complex Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Nemaline myopathy 5 (NEM5)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:605355

Keywords - Diseasei

Nemaline myopathy

Organism-specific databases

MIMi605355. phenotype.
Orphaneti98902. Amish nemaline myopathy.
PharmGKBiPA36637.

Polymorphism and mutation databases

BioMutaiTNNT1.
DMDMi1174800.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 278278Troponin T, slow skeletal musclePRO_0000186168Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21Phosphoserine; by CK2By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiP13805.
PRIDEiP13805.

PTM databases

PhosphoSiteiP13805.

Expressioni

Gene expression databases

BgeeiP13805.
CleanExiHS_TNNT1.
ExpressionAtlasiP13805. baseline and differential.
GenevisibleiP13805. HS.

Organism-specific databases

HPAiCAB015168.
HPA058448.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CCDC136Q96JN2-23EBI-726527,EBI-10171416
KRT40Q6A1623EBI-726527,EBI-10171697
LDOC1O957513EBI-726527,EBI-740738
MORF4L1Q9UBU83EBI-726527,EBI-399246
NFE2L2Q162363EBI-726527,EBI-2007911
TBPL1P623803EBI-726527,EBI-716225
TFIP11Q9UBB93EBI-726527,EBI-1105213
TPM1P094934EBI-726527,EBI-351158
TPM3Q5VU623EBI-726527,EBI-10184033

Protein-protein interaction databases

BioGridi112992. 54 interactions.
IntActiP13805. 55 interactions.
MINTiMINT-1410243.
STRINGi9606.ENSP00000467176.

Structurei

3D structure databases

ProteinModelPortaliP13805.
SMRiP13805. Positions 174-263.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the troponin T family.Curated

Phylogenomic databases

eggNOGiNOG299534.
GeneTreeiENSGT00390000013611.
HOGENOMiHOG000231049.
HOVERGENiHBG052790.
InParanoidiP13805.
KOiK10372.
OMAiGRNFVIQ.
OrthoDBiEOG7W155J.
PhylomeDBiP13805.

Family and domain databases

InterProiIPR027707. TNNT.
IPR001978. Troponin.
[Graphical view]
PANTHERiPTHR11521. PTHR11521. 1 hit.
PfamiPF00992. Troponin. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P13805-1) [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

        10         20         30         40         50
MSDTEEQEYE EEQPEEEAAE EEEEAPEEPE PVAEPEEERP KPSRPVVPPL
60 70 80 90 100
IPPKIPEGER VDFDDIHRKR MEKDLLELQT LIDVHFEQRK KEEEELVALK
110 120 130 140 150
ERIERRRSER AEQQRFRTEK ERERQAKLAE EKMRKEEEEA KKRAEDDAKK
160 170 180 190 200
KKVLSNMGAH FGGYLVKAEQ KRGKRQTGRE MKVRILSERK KPLDIDYMGE
210 220 230 240 250
EQLRARSAWL PPSQPSCPAR EKAQELSDWI HQLESEKFDL MAKLKQQKYE
260 270
INVLYNRISH AQKFRKGAGK GRVGGRWK
Length:278
Mass (Da):32,948
Last modified:January 23, 2007 - v4
Checksum:iD94DB18BC5804E04
GO
Isoform 2 (identifier: P13805-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     25-35: Missing.
     205-220: Missing.

Show »
Length:251
Mass (Da):30,096
Checksum:iDA9E80D5F8B5DE19
GO
Isoform 3 (identifier: P13805-3) [UniParc]FASTAAdd to basket

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

Show »
Length:262
Mass (Da):31,242
Checksum:i9CBA4A8DF3884CAF
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti20 – 201E → D in AAA61204 (PubMed:2824479).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei25 – 3511Missing in isoform 2. 1 PublicationVSP_006639Add
BLAST
Alternative sequencei205 – 22016Missing in isoform 2 and isoform 3. 2 PublicationsVSP_006640Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS12917.1. [P13805-1]
CCDS46185.1. [P13805-2]
CCDS59421.1. [P13805-3]
PIRiA29783. TPHUTW.
RefSeqiNP_001119604.1. NM_001126132.2. [P13805-3]
NP_001119605.1. NM_001126133.2. [P13805-2]
NP_001278703.1. NM_001291774.1. [P13805-2]
NP_003274.3. NM_003283.5. [P13805-1]
UniGeneiHs.631558.

Genome annotation databases

EnsembliENST00000291901; ENSP00000291901; ENSG00000105048. [P13805-3]
ENST00000356783; ENSP00000349233; ENSG00000105048. [P13805-2]
ENST00000587758; ENSP00000467789; ENSG00000105048. [P13805-2]
ENST00000588981; ENSP00000467176; ENSG00000105048. [P13805-1]
GeneIDi7138.
KEGGihsa:7138.
UCSCiuc002qjb.4. human. [P13805-1]
uc002qjc.4. human. [P13805-3]
uc002qjd.4. human. [P13805-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS12917.1. [P13805-1]
CCDS46185.1. [P13805-2]
CCDS59421.1. [P13805-3]
PIRiA29783. TPHUTW.
RefSeqiNP_001119604.1. NM_001126132.2. [P13805-3]
NP_001119605.1. NM_001126133.2. [P13805-2]
NP_001278703.1. NM_001291774.1. [P13805-2]
NP_003274.3. NM_003283.5. [P13805-1]
UniGeneiHs.631558.

3D structure databases

ProteinModelPortaliP13805.
SMRiP13805. Positions 174-263.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112992. 54 interactions.
IntActiP13805. 55 interactions.
MINTiMINT-1410243.
STRINGi9606.ENSP00000467176.

PTM databases

PhosphoSiteiP13805.

Polymorphism and mutation databases

BioMutaiTNNT1.
DMDMi1174800.

Proteomic databases

PaxDbiP13805.
PRIDEiP13805.

Protocols and materials databases

DNASUi7138.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000291901; ENSP00000291901; ENSG00000105048. [P13805-3]
ENST00000356783; ENSP00000349233; ENSG00000105048. [P13805-2]
ENST00000587758; ENSP00000467789; ENSG00000105048. [P13805-2]
ENST00000588981; ENSP00000467176; ENSG00000105048. [P13805-1]
GeneIDi7138.
KEGGihsa:7138.
UCSCiuc002qjb.4. human. [P13805-1]
uc002qjc.4. human. [P13805-3]
uc002qjd.4. human. [P13805-2]

Organism-specific databases

CTDi7138.
GeneCardsiGC19M055644.
GeneReviewsiTNNT1.
HGNCiHGNC:11948. TNNT1.
HPAiCAB015168.
HPA058448.
MIMi191041. gene.
605355. phenotype.
neXtProtiNX_P13805.
Orphaneti98902. Amish nemaline myopathy.
PharmGKBiPA36637.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG299534.
GeneTreeiENSGT00390000013611.
HOGENOMiHOG000231049.
HOVERGENiHBG052790.
InParanoidiP13805.
KOiK10372.
OMAiGRNFVIQ.
OrthoDBiEOG7W155J.
PhylomeDBiP13805.

Enzyme and pathway databases

ReactomeiREACT_16969. Striated Muscle Contraction.

Miscellaneous databases

ChiTaRSiTNNT1. human.
GeneWikiiTNNT1.
GenomeRNAii7138.
NextBioi27929.
PROiP13805.
SOURCEiSearch...

Gene expression databases

BgeeiP13805.
CleanExiHS_TNNT1.
ExpressionAtlasiP13805. baseline and differential.
GenevisibleiP13805. HS.

Family and domain databases

InterProiIPR027707. TNNT.
IPR001978. Troponin.
[Graphical view]
PANTHERiPTHR11521. PTHR11521. 1 hit.
PfamiPF00992. Troponin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: INVOLVEMENT IN NEM5.

Entry informationi

Entry nameiTNNT1_HUMAN
AccessioniPrimary (citable) accession number: P13805
Secondary accession number(s): O95472, Q16061, Q5U0E1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: January 23, 2007
Last modified: June 24, 2015
This is version 143 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 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.