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Troponin T, slow skeletal muscle (TnTs) (Slow skeletal muscle troponin T) (sTnT)

 TNNT1_HUMAN             Reviewed;         278 AA.
P13805; O95472; Q16061; Q5U0E1;
01-NOV-1990, integrated into UniProtKB/Swiss-Prot.
23-JAN-2007, sequence version 4.
27-SEP-2017, entry version 162.
RecName: Full=Troponin T, slow skeletal muscle;
Short=TnTs;
AltName: Full=Slow skeletal muscle troponin T;
Short=sTnT;
Name=TNNT1; Synonyms=TNT;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=2824479;
Gahlmann R., Troutt A.B., Wade R.P., Gunning P., Kedes L.;
"Alternative splicing generates variants in important functional
domains of human slow skeletal troponin T.";
J. Biol. Chem. 262:16122-16126(1987).
[2]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Skeletal muscle;
PubMed=8135831; DOI=10.1006/bbrc.1994.1305;
Samson F., Mesnard L., Mihovilovic M., Potter T.G., Mercadier J.-J.,
Roses A.D., Gilbert J.R.;
"A new human slow skeletal troponin T (TnTs) mRNA isoform derived from
alternative splicing of a single gene.";
Biochem. Biophys. Res. Commun. 199:841-847(1994).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1; 2 AND 3).
PubMed=10191089; DOI=10.1006/geno.1998.5702;
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.;
"Close physical linkage of human troponin genes: organization,
sequence, and expression of the locus encoding cardiac troponin I and
slow skeletal troponin T.";
Genomics 57:102-109(1999).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor
vector.";
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
TISSUE=Skeletal muscle;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 254-278.
PubMed=8403232; DOI=10.1002/cbf.290110306;
Novelli G., Gennarelli M., Sangiuolo F., D'Agruma L., Lo Cicero S.,
Melchionda S., Dallapiccola B.;
"Isolation and cloning by a polymerase chain reaction of a genomic DNA
fragment of the human slow skeletal troponin (TNNT1) gene.";
Cell Biochem. Funct. 11:187-191(1993).
[7]
INVOLVEMENT IN NEM5.
PubMed=10952871; DOI=10.1086/303089;
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.;
"A novel nemaline myopathy in the Amish caused by a mutation in
troponin T1.";
Am. J. Hum. Genet. 67:814-821(2000).
-!- 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.
-!- INTERACTION:
Q96JN2-2:CCDC136; NbExp=3; IntAct=EBI-726527, EBI-10171416;
Q6A162:KRT40; NbExp=3; IntAct=EBI-726527, EBI-10171697;
O95751:LDOC1; NbExp=3; IntAct=EBI-726527, EBI-740738;
Q9UBU8:MORF4L1; NbExp=3; IntAct=EBI-726527, EBI-399246;
Q16236:NFE2L2; NbExp=3; IntAct=EBI-726527, EBI-2007911;
P62380:TBPL1; NbExp=3; IntAct=EBI-726527, EBI-716225;
Q9UBB9:TFIP11; NbExp=3; IntAct=EBI-726527, EBI-1105213;
P09493:TPM1; NbExp=4; IntAct=EBI-726527, EBI-351158;
P09493-10:TPM1; NbExp=4; IntAct=EBI-12151635, EBI-12123928;
P06753:TPM3; NbExp=3; IntAct=EBI-12151635, EBI-355607;
Q5VU62:TPM3; NbExp=3; IntAct=EBI-726527, EBI-10184033;
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=P13805-1; Sequence=Displayed;
Name=2;
IsoId=P13805-2; Sequence=VSP_006639, VSP_006640;
Name=3;
IsoId=P13805-3; Sequence=VSP_006640;
-!- 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.
{ECO:0000269|PubMed:10952871}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the troponin T family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAH22086.2; Type=Erroneous initiation; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; M19308; AAA61205.1; -; mRNA.
EMBL; M19309; AAA61204.1; -; mRNA.
EMBL; S69208; AAB30272.1; -; mRNA.
EMBL; S69209; AAB30273.1; -; mRNA.
EMBL; AJ011712; CAA09750.1; -; Genomic_DNA.
EMBL; AJ011713; CAA09750.1; JOINED; Genomic_DNA.
EMBL; AJ011712; CAA09751.1; -; Genomic_DNA.
EMBL; AJ011713; CAA09751.1; JOINED; Genomic_DNA.
EMBL; AJ011712; CAA09752.1; -; Genomic_DNA.
EMBL; AJ011713; CAA09752.1; JOINED; Genomic_DNA.
EMBL; BT019630; AAV38436.1; -; mRNA.
EMBL; BC010963; AAH10963.1; -; mRNA.
EMBL; BC022086; AAH22086.2; ALT_INIT; mRNA.
EMBL; BC034143; AAH34143.1; -; mRNA.
EMBL; S66057; AAD13978.1; ALT_SEQ; Genomic_DNA.
EMBL; S66170; AAD13978.1; JOINED; Genomic_DNA.
CCDS; CCDS12917.1; -. [P13805-1]
CCDS; CCDS46185.1; -. [P13805-2]
CCDS; CCDS59421.1; -. [P13805-3]
PIR; A29783; TPHUTW.
RefSeq; NP_001119604.1; NM_001126132.2. [P13805-3]
RefSeq; NP_001119605.1; NM_001126133.2. [P13805-2]
RefSeq; NP_001278703.1; NM_001291774.1. [P13805-2]
RefSeq; NP_003274.3; NM_003283.5. [P13805-1]
RefSeq; XP_016882675.1; XM_017027186.1. [P13805-3]
UniGene; Hs.631558; -.
ProteinModelPortal; P13805; -.
SMR; P13805; -.
BioGrid; 112992; 61.
IntAct; P13805; 60.
MINT; MINT-1410243; -.
STRING; 9606.ENSP00000467176; -.
iPTMnet; P13805; -.
PhosphoSitePlus; P13805; -.
BioMuta; TNNT1; -.
DMDM; 1174800; -.
PaxDb; P13805; -.
PeptideAtlas; P13805; -.
PRIDE; P13805; -.
DNASU; 7138; -.
Ensembl; ENST00000291901; ENSP00000291901; ENSG00000105048. [P13805-3]
Ensembl; ENST00000356783; ENSP00000349233; ENSG00000105048. [P13805-2]
Ensembl; ENST00000587758; ENSP00000467789; ENSG00000105048. [P13805-2]
Ensembl; ENST00000588981; ENSP00000467176; ENSG00000105048. [P13805-1]
GeneID; 7138; -.
KEGG; hsa:7138; -.
UCSC; uc002qjb.5; human. [P13805-1]
CTD; 7138; -.
DisGeNET; 7138; -.
EuPathDB; HostDB:ENSG00000105048.16; -.
GeneCards; TNNT1; -.
GeneReviews; TNNT1; -.
HGNC; HGNC:11948; TNNT1.
HPA; CAB015168; -.
HPA; HPA058448; -.
MalaCards; TNNT1; -.
MIM; 191041; gene.
MIM; 605355; phenotype.
neXtProt; NX_P13805; -.
OpenTargets; ENSG00000105048; -.
Orphanet; 98902; Amish nemaline myopathy.
PharmGKB; PA36637; -.
eggNOG; KOG3634; Eukaryota.
eggNOG; ENOG410XS6A; LUCA.
GeneTree; ENSGT00390000013611; -.
HOGENOM; HOG000231049; -.
HOVERGEN; HBG052790; -.
InParanoid; P13805; -.
KO; K10372; -.
OMA; DHMGEEQ; -.
OrthoDB; EOG091G0U67; -.
PhylomeDB; P13805; -.
Reactome; R-HSA-390522; Striated Muscle Contraction.
ChiTaRS; TNNT1; human.
GeneWiki; TNNT1; -.
GenomeRNAi; 7138; -.
PRO; PR:P13805; -.
Proteomes; UP000005640; Chromosome 19.
Bgee; ENSG00000105048; -.
CleanEx; HS_TNNT1; -.
ExpressionAtlas; P13805; baseline and differential.
Genevisible; P13805; HS.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0005861; C:troponin complex; IDA:UniProtKB.
GO; GO:0005523; F:tropomyosin binding; IMP:UniProtKB.
GO; GO:0031014; F:troponin T binding; IEA:Ensembl.
GO; GO:0030049; P:muscle filament sliding; TAS:Reactome.
GO; GO:0045932; P:negative regulation of muscle contraction; IDA:UniProtKB.
GO; GO:0003009; P:skeletal muscle contraction; IMP:UniProtKB.
GO; GO:0031444; P:slow-twitch skeletal muscle fiber contraction; IEA:Ensembl.
GO; GO:0014883; P:transition between fast and slow fiber; IEA:Ensembl.
InterPro; IPR027707; TNNT.
InterPro; IPR001978; Troponin.
PANTHER; PTHR11521; PTHR11521; 1.
Pfam; PF00992; Troponin; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Muscle protein;
Nemaline myopathy; Phosphoprotein; Reference proteome.
CHAIN 1 278 Troponin T, slow skeletal muscle.
/FTId=PRO_0000186168.
MOD_RES 2 2 Phosphoserine; by CK2. {ECO:0000250}.
VAR_SEQ 25 35 Missing (in isoform 2).
{ECO:0000303|Ref.4}.
/FTId=VSP_006639.
VAR_SEQ 205 220 Missing (in isoform 2 and isoform 3).
{ECO:0000303|PubMed:15489334,
ECO:0000303|Ref.4}.
/FTId=VSP_006640.
CONFLICT 20 20 E -> D (in Ref. 1; AAA61204).
{ECO:0000305}.
SEQUENCE 278 AA; 32948 MW; D94DB18BC5804E04 CRC64;
MSDTEEQEYE EEQPEEEAAE EEEEAPEEPE PVAEPEEERP KPSRPVVPPL IPPKIPEGER
VDFDDIHRKR MEKDLLELQT LIDVHFEQRK KEEEELVALK ERIERRRSER AEQQRFRTEK
ERERQAKLAE EKMRKEEEEA KKRAEDDAKK KKVLSNMGAH FGGYLVKAEQ KRGKRQTGRE
MKVRILSERK KPLDIDYMGE EQLRARSAWL PPSQPSCPAR EKAQELSDWI HQLESEKFDL
MAKLKQQKYE INVLYNRISH AQKFRKGAGK GRVGGRWK


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