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P13805

- TNNT1_HUMAN

UniProt

P13805 - TNNT1_HUMAN

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Protein

Troponin T, slow skeletal muscle

Gene
TNNT1, TNT
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. tropomyosin binding Source: UniProtKB

GO - Biological processi

  1. muscle filament sliding Source: Reactome
  2. negative regulation of muscle contraction Source: UniProtKB
  3. skeletal muscle contraction Source: UniProtKB
  4. 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: Chromosome 19

Organism-specific databases

HGNCiHGNC:11948. TNNT1.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. troponin complex Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

Keywords - Diseasei

Nemaline myopathy

Organism-specific databases

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

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 CK2 By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiP13805.
PRIDEiP13805.

PTM databases

PhosphoSiteiP13805.

Expressioni

Gene expression databases

ArrayExpressiP13805.
BgeeiP13805.
CleanExiHS_TNNT1.
GenevestigatoriP13805.

Organism-specific databases

HPAiCAB015168.

Interactioni

Protein-protein interaction databases

BioGridi112992. 46 interactions.
IntActiP13805. 47 interactions.
MINTiMINT-1410243.
STRINGi9606.ENSP00000291901.

Structurei

3D structure databases

ProteinModelPortaliP13805.
SMRiP13805. Positions 174-263.

Family & Domainsi

Sequence similaritiesi

Belongs to the troponin T family.

Phylogenomic databases

eggNOGiNOG299534.
HOGENOMiHOG000231049.
HOVERGENiHBG052790.
InParanoidiP13805.
KOiK10372.
OMAiNVLLNRI.
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. Align

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

MSDTEEQEYE EEQPEEEAAE EEEEAPEEPE PVAEPEEERP KPSRPVVPPL    50
IPPKIPEGER VDFDDIHRKR MEKDLLELQT LIDVHFEQRK KEEEELVALK 100
ERIERRRSER AEQQRFRTEK ERERQAKLAE EKMRKEEEEA KKRAEDDAKK 150
KKVLSNMGAH FGGYLVKAEQ KRGKRQTGRE MKVRILSERK KPLDIDYMGE 200
EQLRARSAWL PPSQPSCPAR EKAQELSDWI HQLESEKFDL MAKLKQQKYE 250
INVLYNRISH AQKFRKGAGK GRVGGRWK 278
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.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei25 – 3511Missing in isoform 2. VSP_006639Add
BLAST
Alternative sequencei205 – 22016Missing in isoform 2 and isoform 3. VSP_006640Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti20 – 201E → D in AAA61204. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]

Polymorphism databases

DMDMi1174800.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS12917.1. [P13805-1 ]
CCDS46185.1. [P13805-2 ]
CCDS59421.1. [P13805-3 ]
PIRi A29783. TPHUTW.
RefSeqi NP_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 ]
UniGenei Hs.631558.

3D structure databases

ProteinModelPortali P13805.
SMRi P13805. Positions 174-263.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112992. 46 interactions.
IntActi P13805. 47 interactions.
MINTi MINT-1410243.
STRINGi 9606.ENSP00000291901.

PTM databases

PhosphoSitei P13805.

Polymorphism databases

DMDMi 1174800.

Proteomic databases

PaxDbi P13805.
PRIDEi P13805.

Protocols and materials databases

DNASUi 7138.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000291901 ; ENSP00000291901 ; ENSG00000105048 . [P13805-3 ]
ENST00000356783 ; ENSP00000349233 ; ENSG00000105048 . [P13805-2 ]
ENST00000587758 ; ENSP00000467789 ; ENSG00000105048 . [P13805-2 ]
ENST00000588981 ; ENSP00000467176 ; ENSG00000105048 . [P13805-1 ]
GeneIDi 7138.
KEGGi hsa:7138.
UCSCi uc002qjb.4. human. [P13805-1 ]
uc002qjc.4. human. [P13805-3 ]
uc002qjd.4. human. [P13805-2 ]

Organism-specific databases

CTDi 7138.
GeneCardsi GC19M055644.
GeneReviewsi TNNT1.
HGNCi HGNC:11948. TNNT1.
HPAi CAB015168.
MIMi 191041. gene.
605355. phenotype.
neXtProti NX_P13805.
Orphaneti 98902. Amish nemaline myopathy.
PharmGKBi PA36637.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG299534.
HOGENOMi HOG000231049.
HOVERGENi HBG052790.
InParanoidi P13805.
KOi K10372.
OMAi NVLLNRI.
OrthoDBi EOG7W155J.
PhylomeDBi P13805.

Enzyme and pathway databases

Reactomei REACT_16969. Striated Muscle Contraction.

Miscellaneous databases

ChiTaRSi TNNT1. human.
GeneWikii TNNT1.
GenomeRNAii 7138.
NextBioi 27929.
PROi P13805.
SOURCEi Search...

Gene expression databases

ArrayExpressi P13805.
Bgeei P13805.
CleanExi HS_TNNT1.
Genevestigatori P13805.

Family and domain databases

InterProi IPR027707. TNNT.
IPR001978. Troponin.
[Graphical view ]
PANTHERi PTHR11521. PTHR11521. 1 hit.
Pfami PF00992. Troponin. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: September 3, 2014
This is version 136 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

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