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Troponin T, fast skeletal muscle (TnTf) (Beta-TnTF) (Fast skeletal muscle troponin T) (fTnT)

 TNNT3_HUMAN             Reviewed;         269 AA.
P45378; A8MQ76; A8MSW1; B3KPX3; B7WP64; B7ZL26; B7ZVV9; Q12975;
Q12976; Q12977; Q12978; Q17RG9; Q6FH29; Q6N056; Q86TH6;
01-NOV-1995, integrated into UniProtKB/Swiss-Prot.
23-JAN-2007, sequence version 3.
22-NOV-2017, entry version 150.
RecName: Full=Troponin T, fast skeletal muscle;
Short=TnTf;
AltName: Full=Beta-TnTF;
AltName: Full=Fast skeletal muscle troponin T;
Short=fTnT;
Name=TNNT3;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
TISSUE=Fetal skeletal muscle;
PubMed=8172653; DOI=10.1089/dna.1994.13.217;
Wu Q.-L., Jha P.K., Raychowdhury M.K., Du Y., Leavis P.C., Sarkar S.;
"Isolation and characterization of human fast skeletal beta troponin T
cDNA: comparative sequence analysis of isoforms and insight into the
evolution of members of a multigene family.";
DNA Cell Biol. 13:217-233(1994).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Stefancsik R., Mao C., Randall J., Jha P.K., Sarkar S.;
"Genomic structure of the fast skeletal troponin T gene (TNNT3).";
Submitted (SEP-1997) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7).
TISSUE=Skeletal muscle;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7).
Li H., Nong W., Zhou G., Ke R., Shen C., Liang M., Tang Z., Huang B.,
Lin L., Yang S.;
Submitted (JUN-2006) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
TISSUE=Liver;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S.,
Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W.,
Korn B., Zuo D., Hu Y., LaBaer J.;
"Cloning of human full open reading frames in Gateway(TM) system entry
vector (pDONR201).";
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
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.
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16554811; DOI=10.1038/nature04632;
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F.,
Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E.,
FitzGerald M.G., Jaffe D.B., LaButti K., Nicol R., Park H.-S.,
Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W.,
Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S.,
Sakaki Y.;
"Human chromosome 11 DNA sequence and analysis including novel gene
identification.";
Nature 440:497-500(2006).
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4; 6 AND 7).
TISSUE=Lung;
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).
[10]
NUCLEOTIDE SEQUENCE [MRNA] OF 1-67 (ISOFORMS 1; 2; 3; 4 AND 5).
TISSUE=Skeletal muscle;
PubMed=8062920; DOI=10.1016/0014-5793(94)00729-2;
Briggs M.M., Maready M., Schmidt J.M., Schachat F.;
"Identification of a fetal exon in the human fast troponin T gene.";
FEBS Lett. 350:37-40(1994).
[11]
VARIANT DA2B HIS-74.
PubMed=12865991; DOI=10.1086/376418;
Sung S.S., Brassington A.-M.E., Krakowiak P.A., Carey J.C.,
Jorde L.B., Bamshad M.;
"Mutations in TNNT3 cause multiple congenital contractures: a second
locus for distal arthrogryposis type 2B.";
Am. J. Hum. Genet. 73:212-214(2003).
-!- 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.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=7;
Comment=Additional isoforms seem to exist.;
Name=1; Synonyms=Tnt1;
IsoId=P45378-1; Sequence=Displayed;
Name=2; Synonyms=Tnt3;
IsoId=P45378-2; Sequence=VSP_007914;
Name=3; Synonyms=Tnt1f;
IsoId=P45378-3; Sequence=VSP_007915;
Name=4; Synonyms=Tnt3f;
IsoId=P45378-4; Sequence=VSP_007914, VSP_007915, VSP_007916;
Name=5; Synonyms=Tnt3f*;
IsoId=P45378-5; Sequence=VSP_009121;
Note=Minor isoform detected in approximately 1% of cDNA clones.;
Name=6;
IsoId=P45378-6; Sequence=VSP_034964;
Name=7;
IsoId=P45378-7; Sequence=VSP_007914, VSP_007915;
-!- TISSUE SPECIFICITY: In fetal and adult fast skeletal muscles, with
a higher level expression in fetal than in adult muscle.
-!- DISEASE: Arthrogryposis, distal, 2B (DA2B) [MIM:601680]: A form of
distal arthrogryposis, a disease characterized by congenital joint
contractures that mainly involve two or more distal parts of the
limbs, in the absence of a primary neurological or muscle disease.
DA2B is characterized by contractures of the hands and feet, and a
distinctive face characterized by prominent nasolabial folds,
small mouth and downslanting palpebral fissures.
{ECO:0000269|PubMed:12865991}. 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=AAH50446.1; Type=Erroneous initiation; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; M21984; AAA36777.1; -; mRNA.
EMBL; AF026276; AAF21629.1; -; Genomic_DNA.
EMBL; AK056968; BAG51835.1; -; mRNA.
EMBL; DQ778624; ABG77458.1; -; mRNA.
EMBL; BX640689; CAE45814.1; -; mRNA.
EMBL; BT019997; AAV38800.1; -; mRNA.
EMBL; CR541927; CAG46725.1; -; mRNA.
EMBL; AC051649; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC050446; AAH50446.1; ALT_INIT; mRNA.
EMBL; BC117327; AAI17328.1; -; mRNA.
EMBL; BC171727; AAI71727.1; -; mRNA.
EMBL; BC143537; AAI43538.1; -; mRNA.
EMBL; U14641; AAA50359.1; -; mRNA.
EMBL; U14642; AAA50360.1; -; mRNA.
EMBL; U14643; AAA50361.1; -; mRNA.
EMBL; U14644; AAA50362.1; -; mRNA.
CCDS; CCDS41594.1; -. [P45378-6]
CCDS; CCDS41595.1; -. [P45378-4]
CCDS; CCDS41596.1; -. [P45378-7]
CCDS; CCDS7727.1; -. [P45378-2]
PIR; I53021; I53021.
PIR; S48660; S48660.
PIR; S74259; S74259.
PIR; S74260; S74260.
PIR; S74261; S74261.
RefSeq; NP_001036245.1; NM_001042780.2. [P45378-4]
RefSeq; NP_001036246.1; NM_001042781.2. [P45378-6]
RefSeq; NP_001036247.1; NM_001042782.2. [P45378-7]
RefSeq; NP_001284575.1; NM_001297646.1. [P45378-7]
RefSeq; NP_006748.1; NM_006757.3. [P45378-2]
RefSeq; XP_006718353.1; XM_006718290.3. [P45378-1]
RefSeq; XP_006718356.1; XM_006718293.2. [P45378-3]
RefSeq; XP_006718363.1; XM_006718300.3. [P45378-5]
RefSeq; XP_011518645.1; XM_011520343.2. [P45378-1]
RefSeq; XP_016873695.1; XM_017018206.1. [P45378-1]
UniGene; Hs.73454; -.
ProteinModelPortal; P45378; -.
SMR; P45378; -.
BioGrid; 112994; 18.
IntAct; P45378; 6.
MINT; MINT-1410650; -.
STRING; 9606.ENSP00000278317; -.
ChEMBL; CHEMBL3831282; -.
iPTMnet; P45378; -.
PhosphoSitePlus; P45378; -.
BioMuta; TNNT3; -.
DMDM; 33518637; -.
PaxDb; P45378; -.
PeptideAtlas; P45378; -.
PRIDE; P45378; -.
DNASU; 7140; -.
Ensembl; ENST00000278317; ENSP00000278317; ENSG00000130595. [P45378-2]
Ensembl; ENST00000344578; ENSP00000344870; ENSG00000130595. [P45378-5]
Ensembl; ENST00000381558; ENSP00000370970; ENSG00000130595. [P45378-7]
Ensembl; ENST00000381563; ENSP00000370975; ENSG00000130595. [P45378-3]
Ensembl; ENST00000381579; ENSP00000370991; ENSG00000130595. [P45378-4]
Ensembl; ENST00000381589; ENSP00000371001; ENSG00000130595. [P45378-6]
Ensembl; ENST00000397301; ENSP00000380468; ENSG00000130595. [P45378-1]
Ensembl; ENST00000641119; ENSP00000492914; ENSG00000130595. [P45378-6]
Ensembl; ENST00000641787; ENSP00000493331; ENSG00000130595. [P45378-7]
GeneID; 7140; -.
KEGG; hsa:7140; -.
UCSC; uc001luo.5; human. [P45378-1]
CTD; 7140; -.
DisGeNET; 7140; -.
EuPathDB; HostDB:ENSG00000130595.16; -.
GeneCards; TNNT3; -.
HGNC; HGNC:11950; TNNT3.
HPA; CAB002451; -.
HPA; HPA037810; -.
HPA; HPA056909; -.
MalaCards; TNNT3; -.
MIM; 600692; gene.
MIM; 601680; phenotype.
neXtProt; NX_P45378; -.
OpenTargets; ENSG00000130595; -.
Orphanet; 1146; Digitotalar dysmorphism.
Orphanet; 1147; Sheldon-Hall syndrome.
PharmGKB; PA36639; -.
eggNOG; KOG3634; Eukaryota.
eggNOG; ENOG410XS6A; LUCA.
GeneTree; ENSGT00390000013611; -.
HOVERGEN; HBG052790; -.
InParanoid; P45378; -.
KO; K12046; -.
OMA; GRHPPKV; -.
OrthoDB; EOG091G0U67; -.
PhylomeDB; P45378; -.
TreeFam; TF313321; -.
Reactome; R-HSA-390522; Striated Muscle Contraction.
SIGNOR; P45378; -.
ChiTaRS; TNNT3; human.
GeneWiki; TNNT3; -.
GenomeRNAi; 7140; -.
PRO; PR:P45378; -.
Proteomes; UP000005640; Chromosome 11.
Bgee; ENSG00000130595; -.
ExpressionAtlas; P45378; baseline and differential.
Genevisible; P45378; HS.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0005861; C:troponin complex; IDA:UniProtKB.
GO; GO:0048306; F:calcium-dependent protein binding; IDA:UniProtKB.
GO; GO:0005523; F:tropomyosin binding; IMP:UniProtKB.
GO; GO:0030172; F:troponin C binding; IPI:UniProtKB.
GO; GO:0031013; F:troponin I binding; IPI:UniProtKB.
GO; GO:0030049; P:muscle filament sliding; TAS:Reactome.
GO; GO:0043462; P:regulation of ATPase activity; IDA:UniProtKB.
GO; GO:0006942; P:regulation of striated muscle contraction; IDA:UniProtKB.
GO; GO:0003009; P:skeletal muscle contraction; IDA:UniProtKB.
InterPro; IPR027707; TNNT.
InterPro; IPR027708; Tnnt3.
InterPro; IPR001978; Troponin.
PANTHER; PTHR11521; PTHR11521; 1.
PANTHER; PTHR11521:SF4; PTHR11521:SF4; 1.
Pfam; PF00992; Troponin; 1.
1: Evidence at protein level;
Acetylation; Alternative splicing; Complete proteome;
Disease mutation; Muscle protein; Phosphoprotein; Reference proteome.
INIT_MET 1 1 Removed. {ECO:0000250|UniProtKB:P02641}.
CHAIN 2 269 Troponin T, fast skeletal muscle.
/FTId=PRO_0000186178.
MOD_RES 2 2 N-acetylserine.
{ECO:0000250|UniProtKB:P02641}.
MOD_RES 2 2 Phosphoserine.
{ECO:0000250|UniProtKB:P09739}.
MOD_RES 88 88 Phosphoserine.
{ECO:0000250|UniProtKB:P09739}.
MOD_RES 159 159 Phosphoserine.
{ECO:0000250|UniProtKB:Q9QZ47}.
MOD_RES 166 166 Phosphoserine.
{ECO:0000250|UniProtKB:P09739}.
MOD_RES 167 167 Phosphoserine.
{ECO:0000250|UniProtKB:P09739}.
VAR_SEQ 23 46 Missing (in isoform 5).
{ECO:0000303|PubMed:8062920}.
/FTId=VSP_009121.
VAR_SEQ 23 33 Missing (in isoform 2, isoform 4 and
isoform 7). {ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:8062920,
ECO:0000303|PubMed:8172653,
ECO:0000303|Ref.4}.
/FTId=VSP_007914.
VAR_SEQ 34 46 Missing (in isoform 6).
{ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:17974005,
ECO:0000303|Ref.6, ECO:0000303|Ref.7}.
/FTId=VSP_034964.
VAR_SEQ 39 46 Missing (in isoform 3, isoform 4 and
isoform 7). {ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:8062920,
ECO:0000303|Ref.4}.
/FTId=VSP_007915.
VAR_SEQ 240 252 TTLRSRIDQAQKH -> MNVRARVQMLAKF (in
isoform 4). {ECO:0000303|PubMed:15489334,
ECO:0000303|PubMed:8062920}.
/FTId=VSP_007916.
VARIANT 74 74 R -> H (in DA2B; dbSNP:rs121434638).
{ECO:0000269|PubMed:12865991}.
/FTId=VAR_026453.
CONFLICT 149 149 E -> G (in Ref. 5; CAE45814).
{ECO:0000305}.
SEQUENCE 269 AA; 31825 MW; 87B25AF8773D742F CRC64;
MSDEEVEQVE EQYEEEEEAQ EEAAEVHEEV HEPEEVQEDT AEEDAEEEKP RPKLTAPKIP
EGEKVDFDDI QKKRQNKDLM ELQALIDSHF EARKKEEEEL VALKERIEKR RAERAEQQRI
RAEKERERQN RLAEEKARRE EEDAKRRAED DLKKKKALSS MGANYSSYLA KADQKRGKKQ
TAREMKKKIL AERRKPLNID HLGEDKLRDK AKELWETLHQ LEIDKFEFGE KLKRQKYDIT
TLRSRIDQAQ KHSKKAGTPA KGKVGGRWK


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