P45378 (TNNT3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Troponin T, fast skeletal muscle
Short name=TnTf

Alternative name(s):
Beta-TnTF
Fast skeletal muscle troponin T
Short name=fTnT

Gene names

Name:

TNNT3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	269 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

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.
Tissue specificity	In fetal and adult fast skeletal muscles, with a higher level expression in fetal than in adult muscle.
Involvement in 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11
Sequence similarities	Belongs to the troponin T family.
Sequence caution	The sequence AAH50446.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Molecular function	Muscle protein
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	muscle filament sliding Traceable author statement. Source: Reactome regulation of ATPase activity Inferred from direct assay PubMed 17194691. Source: UniProtKB regulation of striated muscle contraction Inferred from direct assay PubMed 17194691. Source: UniProtKB skeletal muscle contraction Inferred from direct assay PubMed 17194691. Source: UniProtKB
Cellular_component	cytosol Traceable author statement. Source: Reactome troponin complex Inferred from direct assay PubMed 17194691PubMed 8987992PubMed 9724539. Source: UniProtKB
Molecular_function	calcium-dependent protein binding Inferred from direct assay PubMed 8987992. Source: UniProtKB tropomyosin binding Inferred from mutant phenotype PubMed 8987992. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 7 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: P45378-1)

Also known as: Tnt1;

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.

Isoform 2 (identifier: P45378-2)

Also known as: Tnt3;

The sequence of this isoform differs from the canonical sequence as follows:
     23-33: Missing.

Isoform 3 (identifier: P45378-3)

Also known as: Tnt1f;

The sequence of this isoform differs from the canonical sequence as follows:
     39-46: Missing.

Isoform 4 (identifier: P45378-4)

Also known as: Tnt3f;

The sequence of this isoform differs from the canonical sequence as follows:
     23-33: Missing.
     39-46: Missing.
     240-252: TTLRSRIDQAQKH → MNVRARVQMLAKF

Isoform 5 (identifier: P45378-5)

Also known as: Tnt3f*;

The sequence of this isoform differs from the canonical sequence as follows:
     23-46: Missing.

Note: Minor isoform detected in approximately 1% of cDNA clones.

Isoform 6 (identifier: P45378-6)

The sequence of this isoform differs from the canonical sequence as follows:
     34-46: Missing.

Isoform 7 (identifier: P45378-7)

The sequence of this isoform differs from the canonical sequence as follows:
     23-33: Missing.
     39-46: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed By similarity
	Chain	2 – 269	268	Troponin T, fast skeletal muscle		PRO_0000186178
Amino acid modifications
	Modified residue	2	1	N-acetylserine By similarity
	Modified residue	2	1	Phosphoserine; by CK2 By similarity
Natural variations
	Alternative sequence	23 – 46	24	Missing in isoform 5.		VSP_009121
	Alternative sequence	23 – 33	11	Missing in isoform 2, isoform 4 and isoform 7.		VSP_007914
	Alternative sequence	34 – 46	13	Missing in isoform 6.		VSP_034964
	Alternative sequence	39 – 46	8	Missing in isoform 3, isoform 4 and isoform 7.		VSP_007915
	Alternative sequence	240 – 252	13	TTLRS…QAQKH → MNVRARVQMLAKF in isoform 4.		VSP_007916
	Natural variant	74	1	R → H in DA2B. Ref.11		VAR_026453
Experimental info
	Sequence conflict	149	1	E → G in CAE45814. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Tnt1) [UniParc]. Last modified January 23, 2007. Version 3. Checksum: 87B25AF8773D742F	FASTA	269	31,825
	10 20 30 40 50 60 MSDEEVEQVE EQYEEEEEAQ EEAAEVHEEV HEPEEVQEDT AEEDAEEEKP RPKLTAPKIP 70 80 90 100 110 120 EGEKVDFDDI QKKRQNKDLM ELQALIDSHF EARKKEEEEL VALKERIEKR RAERAEQQRI 130 140 150 160 170 180 RAEKERERQN RLAEEKARRE EEDAKRRAED DLKKKKALSS MGANYSSYLA KADQKRGKKQ 190 200 210 220 230 240 TAREMKKKIL AERRKPLNID HLGEDKLRDK AKELWETLHQ LEIDKFEFGE KLKRQKYDIT 250 260 TLRSRIDQAQ KHSKKAGTPA KGKVGGRWK
	Isoform 2 (Tnt3) [UniParc]. Checksum: F42BF2526BDC5ED9	FASTA	258	30,596
	10 20 30 40 50 60 MSDEEVEQVE EQYEEEEEAQ EEEEVQEDTA EEDAEEEKPR PKLTAPKIPE GEKVDFDDIQ 70 80 90 100 110 120 KKRQNKDLME LQALIDSHFE ARKKEEEELV ALKERIEKRR AERAEQQRIR AEKERERQNR 130 140 150 160 170 180 LAEEKARREE EDAKRRAEDD LKKKKALSSM GANYSSYLAK ADQKRGKKQT AREMKKKILA 190 200 210 220 230 240 ERRKPLNIDH LGEDKLRDKA KELWETLHQL EIDKFEFGEK LKRQKYDITT LRSRIDQAQK 250 HSKKAGTPAK GKVGGRWK
	Isoform 3 (Tnt1f) [UniParc]. Checksum: 6D7AF5AF58952CD1	FASTA	261	30,964
	10 20 30 40 50 60 MSDEEVEQVE EQYEEEEEAQ EEAAEVHEEV HEPEEVQEEE KPRPKLTAPK IPEGEKVDFD 70 80 90 100 110 120 DIQKKRQNKD LMELQALIDS HFEARKKEEE ELVALKERIE KRRAERAEQQ RIRAEKERER 130 140 150 160 170 180 QNRLAEEKAR REEEDAKRRA EDDLKKKKAL SSMGANYSSY LAKADQKRGK KQTAREMKKK 190 200 210 220 230 240 ILAERRKPLN IDHLGEDKLR DKAKELWETL HQLEIDKFEF GEKLKRQKYD ITTLRSRIDQ 250 260 AQKHSKKAGT PAKGKVGGRW K
	Isoform 4 (Tnt3f) [UniParc]. Checksum: 3E60707FDA580499	FASTA	250	29,746
	10 20 30 40 50 60 MSDEEVEQVE EQYEEEEEAQ EEEEVQEEEK PRPKLTAPKI PEGEKVDFDD IQKKRQNKDL 70 80 90 100 110 120 MELQALIDSH FEARKKEEEE LVALKERIEK RRAERAEQQR IRAEKERERQ NRLAEEKARR 130 140 150 160 170 180 EEEDAKRRAE DDLKKKKALS SMGANYSSYL AKADQKRGKK QTAREMKKKI LAERRKPLNI 190 200 210 220 230 240 DHLGEDKLRD KAKELWETLH QLEIDKFEFG EKLKRQKYDI MNVRARVQML AKFSKKAGTP 250 AKGKVGGRWK
	Isoform 5 (Tnt3f*) [UniParc]. Checksum: 320B367968566805	FASTA	245	29,121
	10 20 30 40 50 60 MSDEEVEQVE EQYEEEEEAQ EEEEKPRPKL TAPKIPEGEK VDFDDIQKKR QNKDLMELQA 70 80 90 100 110 120 LIDSHFEARK KEEEELVALK ERIEKRRAER AEQQRIRAEK ERERQNRLAE EKARREEEDA 130 140 150 160 170 180 KRRAEDDLKK KKALSSMGAN YSSYLAKADQ KRGKKQTARE MKKKILAERR KPLNIDHLGE 190 200 210 220 230 240 DKLRDKAKEL WETLHQLEID KFEFGEKLKR QKYDITTLRS RIDQAQKHSK KAGTPAKGKV GGRWK
	Isoform 6 [UniParc]. Checksum: 9522A0CA453CB492	FASTA	256	30,349
	10 20 30 40 50 60 MSDEEVEQVE EQYEEEEEAQ EEAAEVHEEV HEPEEKPRPK LTAPKIPEGE KVDFDDIQKK 70 80 90 100 110 120 RQNKDLMELQ ALIDSHFEAR KKEEEELVAL KERIEKRRAE RAEQQRIRAE KERERQNRLA 130 140 150 160 170 180 EEKARREEED AKRRAEDDLK KKKALSSMGA NYSSYLAKAD QKRGKKQTAR EMKKKILAER 190 200 210 220 230 240 RKPLNIDHLG EDKLRDKAKE LWETLHQLEI DKFEFGEKLK RQKYDITTLR SRIDQAQKHS 250 KKAGTPAKGK VGGRWK
	Isoform 7 [UniParc]. Checksum: 9A9651EBDF220547	FASTA	250	29,735
	10 20 30 40 50 60 MSDEEVEQVE EQYEEEEEAQ EEEEVQEEEK PRPKLTAPKI PEGEKVDFDD IQKKRQNKDL 70 80 90 100 110 120 MELQALIDSH FEARKKEEEE LVALKERIEK RRAERAEQQR IRAEKERERQ NRLAEEKARR 130 140 150 160 170 180 EEEDAKRRAE DDLKKKKALS SMGANYSSYL AKADQKRGKK QTAREMKKKI LAERRKPLNI 190 200 210 220 230 240 DHLGEDKLRD KAKELWETLH QLEIDKFEFG EKLKRQKYDI TTLRSRIDQA QKHSKKAGTP 250 AKGKVGGRWK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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." Wu Q.-L., Jha P.K., Raychowdhury M.K., Du Y., Leavis P.C., Sarkar S. DNA Cell Biol. 13:217-233(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Fetal skeletal muscle.
[2]	"Genomic structure of the fast skeletal troponin T gene (TNNT3)." Stefancsik R., Mao C., Randall J., Jha P.K., Sarkar S. Submitted (SEP-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." 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. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7). Tissue: Skeletal muscle.
[4]	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 Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7).
[5]	"The full-ORF clone resource of the German cDNA consortium." 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. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6). Tissue: Liver.
[6]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." 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. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
[7]	"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 6).
[8]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." 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. Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]	"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] (ISOFORMS 4; 6 AND 7). Tissue: Lung.
[10]	"Identification of a fetal exon in the human fast troponin T gene." Briggs M.M., Maready M., Schmidt J.M., Schachat F. FEBS Lett. 350:37-40(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-67 (ISOFORMS 1; 2; 3; 4 AND 5). Tissue: Skeletal muscle.
[11]	"Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B." Sung S.S., Brassington A.-M.E., Krakowiak P.A., Carey J.C., Jorde L.B., Bamshad M. Am. J. Hum. Genet. 73:212-214(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT DA2B HIS-74.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	M21984 mRNA. Translation: AAA36777.1. AF026276 Genomic DNA. Translation: AAF21629.1. AK056968 mRNA. Translation: BAG51835.1. DQ778624 mRNA. Translation: ABG77458.1. BX640689 mRNA. Translation: CAE45814.1. BT019997 mRNA. Translation: AAV38800.1. CR541927 mRNA. Translation: CAG46725.1. AC051649 Genomic DNA. No translation available. BC050446 mRNA. Translation: AAH50446.1. Different initiation. BC117327 mRNA. Translation: AAI17328.1. BC171727 mRNA. Translation: AAI71727.1. BC143537 mRNA. Translation: AAI43538.1. U14641 mRNA. Translation: AAA50359.1. U14642 mRNA. Translation: AAA50360.1. U14643 mRNA. Translation: AAA50361.1. U14644 mRNA. Translation: AAA50362.1.
IPI	IPI00337455. IPI00477427. IPI00641544. IPI00852975. IPI00872734. IPI00936731. IPI00937352.
PIR	I53021. S48660. S74259. S74260. S74261.
RefSeq	NP_001036245.1. NM_001042780.2. NP_001036246.1. NM_001042781.2. NP_001036247.1. NM_001042782.2. NP_006748.1. NM_006757.3.
UniGene	Hs.73454.
3D structure databases
ProteinModelPortal	P45378.
ModBase	Search...
Protein-protein interaction databases
IntAct	P45378. 5 interactions.
MINT	MINT-1410650.
PTM databases
PhosphoSite	P45378.
Polymorphism databases
DMDM	33518637.
Proteomic databases
PaxDb	P45378.
PRIDE	P45378.
Protocols and materials databases
DNASU	7140.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000278317; ENSP00000278317; ENSG00000130595. ENST00000344578; ENSP00000344870; ENSG00000130595. ENST00000381549; ENSP00000370961; ENSG00000130595. ENST00000381558; ENSP00000370970; ENSG00000130595. ENST00000381563; ENSP00000370975; ENSG00000130595. ENST00000381579; ENSP00000370991; ENSG00000130595. ENST00000381589; ENSP00000371001; ENSG00000130595. ENST00000397301; ENSP00000380468; ENSG00000130595.
GeneID	7140.
KEGG	hsa:7140.
UCSC	uc001luo.4. human. uc001lup.4. human. uc001luq.4. human. uc001luu.4. human. uc010qxg.2. human.
Organism-specific databases
CTD	7140.
GeneCards	GC11P001940.
HGNC	HGNC:11950. TNNT3.
HPA	CAB002451. HPA037810.
MIM	600692. gene. 601680. phenotype.
neXtProt	NX_P45378.
Orphanet	1147. Sheldon-Hall syndrome.
PharmGKB	PA36639.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG299534.
HOVERGEN	HBG052790.
KO	K12046.
Enzyme and pathway databases
Reactome	REACT_17044. Muscle contraction.
Gene expression databases
ArrayExpress	P45378.
Bgee	P45378.
Genevestigator	P45378.
Family and domain databases
InterPro	IPR001978. Troponin. [Graphical view]
Pfam	PF00992. Troponin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	TNNT3. human.
GenomeRNAi	7140.
NextBio	27943.
SOURCE	Search...

Entry information

Entry name

TNNT3_HUMAN

Accession

Primary (citable) accession number: P45378
Secondary accession number(s): A8MQ76 , A8MSW1, B3KPX3, B7WP64, B7ZL26, B7ZVV9, Q12975, Q12976, Q12977, Q12978, Q17RG9, Q6FH29, Q6N056, Q86TH6

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 112 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.