TNNT1_HUMAN
ID TNNT1_HUMAN Reviewed; 278 AA.
AC P13805; O95472; Q16061; Q5U0E1;
DT 01-NOV-1990, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 4.
DT 03-AUG-2022, entry version 190.
DE RecName: Full=Troponin T, slow skeletal muscle;
DE Short=TnTs;
DE AltName: Full=Slow skeletal muscle troponin T;
DE Short=sTnT;
GN Name=TNNT1; Synonyms=TNT;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=2824479; DOI=10.1016/s0021-9258(18)47705-8;
RA Gahlmann R., Troutt A.B., Wade R.P., Gunning P., Kedes L.;
RT "Alternative splicing generates variants in important functional domains of
RT human slow skeletal troponin T.";
RL J. Biol. Chem. 262:16122-16126(1987).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Skeletal muscle;
RX PubMed=8135831; DOI=10.1006/bbrc.1994.1305;
RA Samson F., Mesnard L., Mihovilovic M., Potter T.G., Mercadier J.-J.,
RA Roses A.D., Gilbert J.R.;
RT "A new human slow skeletal troponin T (TnTs) mRNA isoform derived from
RT alternative splicing of a single gene.";
RL Biochem. Biophys. Res. Commun. 199:841-847(1994).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1; 2 AND 3).
RX PubMed=10191089; DOI=10.1006/geno.1998.5702;
RA Barton P.J.R., Cullen M.E., Townsend P.J., Brand N.J., Mullen A.J.,
RA Norman D.A.M., Bhavsar P.K., Yacoub M.H.;
RT "Close physical linkage of human troponin genes: organization, sequence,
RT and expression of the locus encoding cardiac troponin I and slow skeletal
RT troponin T.";
RL Genomics 57:102-109(1999).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Skeletal muscle;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 254-278.
RX PubMed=8403232; DOI=10.1002/cbf.290110306;
RA Novelli G., Gennarelli M., Sangiuolo F., D'Agruma L., Lo Cicero S.,
RA Melchionda S., Dallapiccola B.;
RT "Isolation and cloning by a polymerase chain reaction of a genomic DNA
RT fragment of the human slow skeletal troponin (TNNT1) gene.";
RL Cell Biochem. Funct. 11:187-191(1993).
RN [7]
RP INVOLVEMENT IN NEM5.
RX PubMed=10952871; DOI=10.1086/303089;
RA Johnston J.J., Kelley R.I., Crawford T.O., Morton D.H., Agarwala R.,
RA Koch T., Schaeffer A.A., Francomano C.A., Biesecker L.G.;
RT "A novel nemaline myopathy in the Amish caused by a mutation in troponin
RT T1.";
RL Am. J. Hum. Genet. 67:814-821(2000).
CC -!- FUNCTION: Troponin T is the tropomyosin-binding subunit of troponin,
CC the thin filament regulatory complex which confers calcium-sensitivity
CC to striated muscle actomyosin ATPase activity.
CC -!- INTERACTION:
CC P13805; Q96JN2-2: CCDC136; NbExp=3; IntAct=EBI-726527, EBI-10171416;
CC P13805; Q6A162: KRT40; NbExp=3; IntAct=EBI-726527, EBI-10171697;
CC P13805; O95751: LDOC1; NbExp=4; IntAct=EBI-726527, EBI-740738;
CC P13805; Q9UBU8: MORF4L1; NbExp=3; IntAct=EBI-726527, EBI-399246;
CC P13805; Q16236: NFE2L2; NbExp=4; IntAct=EBI-726527, EBI-2007911;
CC P13805; P62380: TBPL1; NbExp=3; IntAct=EBI-726527, EBI-716225;
CC P13805; Q9UBB9: TFIP11; NbExp=4; IntAct=EBI-726527, EBI-1105213;
CC P13805; P09493: TPM1; NbExp=4; IntAct=EBI-726527, EBI-351158;
CC P13805; Q5VU62: TPM3; NbExp=3; IntAct=EBI-726527, EBI-10184033;
CC P13805-3; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-12151635, EBI-3044087;
CC P13805-3; Q16236: NFE2L2; NbExp=3; IntAct=EBI-12151635, EBI-2007911;
CC P13805-3; P0C264: SBK3; NbExp=3; IntAct=EBI-12151635, EBI-17181801;
CC P13805-3; Q9H190: SDCBP2; NbExp=3; IntAct=EBI-12151635, EBI-742426;
CC P13805-3; P19237: TNNI1; NbExp=3; IntAct=EBI-12151635, EBI-746692;
CC P13805-3; P48788: TNNI2; NbExp=3; IntAct=EBI-12151635, EBI-7746394;
CC P13805-3; P45379-11: TNNT2; NbExp=3; IntAct=EBI-12151635, EBI-17559309;
CC P13805-3; P09493-10: TPM1; NbExp=4; IntAct=EBI-12151635, EBI-12123928;
CC P13805-3; P06753: TPM3; NbExp=3; IntAct=EBI-12151635, EBI-355607;
CC P13805-3; Q9H2G4: TSPYL2; NbExp=3; IntAct=EBI-12151635, EBI-947459;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=P13805-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P13805-2; Sequence=VSP_006639, VSP_006640;
CC Name=3;
CC IsoId=P13805-3; Sequence=VSP_006640;
CC -!- DISEASE: Nemaline myopathy 5 (NEM5) [MIM:605355]: A form of nemaline
CC myopathy. Nemaline myopathies are muscular disorders characterized by
CC muscle weakness of varying severity and onset, and abnormal thread-like
CC or rod-shaped structures in muscle fibers on histologic examination.
CC Nemaline myopathy type 5 is a severe and progressive form common among
CC Old Order Amish. Affected infants display tremors with hypotonia and
CC mild contractures of the shoulders and hips. Proximal contractures
CC progressively weaken and a pectus carinatum deformity develops before
CC children die of respiratory insufficiency, usually in the second year.
CC {ECO:0000269|PubMed:10952871}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the troponin T family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH22086.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; M19308; AAA61205.1; -; mRNA.
DR EMBL; M19309; AAA61204.1; -; mRNA.
DR EMBL; S69208; AAB30272.1; -; mRNA.
DR EMBL; S69209; AAB30273.1; -; mRNA.
DR EMBL; AJ011712; CAA09750.1; -; Genomic_DNA.
DR EMBL; AJ011713; CAA09750.1; JOINED; Genomic_DNA.
DR EMBL; AJ011712; CAA09751.1; -; Genomic_DNA.
DR EMBL; AJ011713; CAA09751.1; JOINED; Genomic_DNA.
DR EMBL; AJ011712; CAA09752.1; -; Genomic_DNA.
DR EMBL; AJ011713; CAA09752.1; JOINED; Genomic_DNA.
DR EMBL; BT019630; AAV38436.1; -; mRNA.
DR EMBL; BC010963; AAH10963.1; -; mRNA.
DR EMBL; BC022086; AAH22086.2; ALT_INIT; mRNA.
DR EMBL; BC034143; AAH34143.1; -; mRNA.
DR EMBL; S66057; AAD13978.1; ALT_SEQ; Genomic_DNA.
DR EMBL; S66170; AAD13978.1; JOINED; Genomic_DNA.
DR CCDS; CCDS12917.1; -. [P13805-1]
DR CCDS; CCDS46185.1; -. [P13805-2]
DR CCDS; CCDS59421.1; -. [P13805-3]
DR PIR; A29783; TPHUTW.
DR RefSeq; NP_001119604.1; NM_001126132.2. [P13805-3]
DR RefSeq; NP_001119605.1; NM_001126133.2. [P13805-2]
DR RefSeq; NP_001278703.1; NM_001291774.1. [P13805-2]
DR RefSeq; NP_003274.3; NM_003283.5. [P13805-1]
DR RefSeq; XP_016882675.1; XM_017027186.1. [P13805-3]
DR AlphaFoldDB; P13805; -.
DR SMR; P13805; -.
DR BioGRID; 112992; 77.
DR IntAct; P13805; 66.
DR MINT; P13805; -.
DR STRING; 9606.ENSP00000467176; -.
DR iPTMnet; P13805; -.
DR PhosphoSitePlus; P13805; -.
DR BioMuta; TNNT1; -.
DR DMDM; 1174800; -.
DR jPOST; P13805; -.
DR MassIVE; P13805; -.
DR PaxDb; P13805; -.
DR PeptideAtlas; P13805; -.
DR PRIDE; P13805; -.
DR ProteomicsDB; 52991; -. [P13805-1]
DR ProteomicsDB; 52992; -. [P13805-2]
DR ProteomicsDB; 52993; -. [P13805-3]
DR Antibodypedia; 4195; 276 antibodies from 34 providers.
DR DNASU; 7138; -.
DR Ensembl; ENST00000291901.12; ENSP00000291901.8; ENSG00000105048.18. [P13805-3]
DR Ensembl; ENST00000356783.9; ENSP00000349233.4; ENSG00000105048.18. [P13805-2]
DR Ensembl; ENST00000587758.5; ENSP00000467789.1; ENSG00000105048.18. [P13805-2]
DR Ensembl; ENST00000588981.6; ENSP00000467176.1; ENSG00000105048.18. [P13805-1]
DR GeneID; 7138; -.
DR KEGG; hsa:7138; -.
DR MANE-Select; ENST00000588981.6; ENSP00000467176.1; NM_003283.6; NP_003274.3.
DR UCSC; uc002qjb.5; human. [P13805-1]
DR CTD; 7138; -.
DR DisGeNET; 7138; -.
DR GeneCards; TNNT1; -.
DR HGNC; HGNC:11948; TNNT1.
DR HPA; ENSG00000105048; Group enriched (skeletal muscle, tongue).
DR MalaCards; TNNT1; -.
DR MIM; 191041; gene.
DR MIM; 605355; phenotype.
DR neXtProt; NX_P13805; -.
DR OpenTargets; ENSG00000105048; -.
DR Orphanet; 98902; Amish nemaline myopathy.
DR PharmGKB; PA36637; -.
DR VEuPathDB; HostDB:ENSG00000105048; -.
DR eggNOG; KOG3634; Eukaryota.
DR GeneTree; ENSGT00940000160609; -.
DR InParanoid; P13805; -.
DR OMA; EWIYELE; -.
DR OrthoDB; 1480247at2759; -.
DR PhylomeDB; P13805; -.
DR PathwayCommons; P13805; -.
DR Reactome; R-HSA-390522; Striated Muscle Contraction.
DR SignaLink; P13805; -.
DR BioGRID-ORCS; 7138; 85 hits in 1075 CRISPR screens.
DR ChiTaRS; TNNT1; human.
DR GeneWiki; TNNT1; -.
DR GenomeRNAi; 7138; -.
DR Pharos; P13805; Tbio.
DR PRO; PR:P13805; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; P13805; protein.
DR Bgee; ENSG00000105048; Expressed in gluteal muscle and 119 other tissues.
DR ExpressionAtlas; P13805; baseline and differential.
DR Genevisible; P13805; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005861; C:troponin complex; IDA:UniProtKB.
DR GO; GO:0005523; F:tropomyosin binding; IMP:UniProtKB.
DR GO; GO:0031014; F:troponin T binding; IBA:GO_Central.
DR GO; GO:0006936; P:muscle contraction; IBA:GO_Central.
DR GO; GO:0045932; P:negative regulation of muscle contraction; IDA:UniProtKB.
DR GO; GO:0045214; P:sarcomere organization; IBA:GO_Central.
DR GO; GO:0003009; P:skeletal muscle contraction; IMP:UniProtKB.
DR GO; GO:0031444; P:slow-twitch skeletal muscle fiber contraction; IBA:GO_Central.
DR GO; GO:0014883; P:transition between fast and slow fiber; IEA:Ensembl.
DR Gene3D; 1.20.5.350; -; 2.
DR InterPro; IPR027707; TNNT.
DR InterPro; IPR001978; Troponin.
DR InterPro; IPR038077; Troponin_sf.
DR PANTHER; PTHR11521; PTHR11521; 1.
DR Pfam; PF00992; Troponin; 1.
DR SUPFAM; SSF90250; SSF90250; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Muscle protein; Nemaline myopathy; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..278
FT /note="Troponin T, slow skeletal muscle"
FT /id="PRO_0000186168"
FT REGION 1..63
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 105..153
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..33
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2
FT /note="Phosphoserine; by CK2"
FT /evidence="ECO:0000250"
FT VAR_SEQ 25..35
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.4"
FT /id="VSP_006639"
FT VAR_SEQ 205..220
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.4"
FT /id="VSP_006640"
FT CONFLICT 20
FT /note="E -> D (in Ref. 1; AAA61204)"
FT /evidence="ECO:0000305"
SQ 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
