Troponin T, fast skeletal muscle - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot P45378 (TNNT3_HUMAN)

Last modified November 4, 2008. Version 71. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
    Troponin T, fast skeletal muscle
      Short name=TnTf
Alternative name(s):
    Fast skeletal muscle troponin T
      Short name=fTnT
    Beta TnTF

Gene names

Name:

TNNT3

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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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.

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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	Defects in TNNT3 are a cause of distal arthrogryposis type 2B (DA2B) [MIM:601680]; also known as arthrogryposis multiplex congenita, distal, type 2B (AMCD2B). DA2B is a form of inherited multiple congenital contractures. Affected individuals have vertical talus, ulnar deviation in the hands, severe camptodactyly, and a distinctive face characterized by a triangular shape, prominent nasolabial folds, small mouth and a prominent chin.
Sequence similarities	Belongs to the troponin T family.

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Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Molecular function	Muscle protein
PTM	Acetylation Phosphoprotein
Gene Ontology (GO)
Biological process	regulation of ATPase activity Inferred from direct assay. Source: UniProtKB regulation of striated muscle contraction Inferred from direct assay. Source: UniProtKB skeletal muscle contraction Inferred from direct assay. Source: UniProtKB
Cellular component	troponin complex Inferred from direct assay. Source: UniProtKB
Molecular function	calcium-dependent protein binding Inferred from direct assay. Source: UniProtKB tropomyosin binding Inferred from mutant phenotype. Source: UniProtKB troponin C binding Inferred from physical interaction. Source: UniProtKB troponin I binding Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

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Alternative products

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

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Initiator methionine

Removed By similarity

Chain

2 – 269

268

Troponin T, fast skeletal muscle

PRO_0000186178

Amino acid modifications

Modified residue

N-acetylserine By similarity

Modified residue

Phosphoserine; by CK2 By similarity

Natural variations

Alternative sequence

23 – 46

Missing in isoform 5.

VSP_009121

Alternative sequence

23 – 33

Missing in isoform 2, isoform 4 and isoform 7.

VSP_007914

Alternative sequence

34 – 46

Missing in isoform 6.

VSP_034964

Alternative sequence

39 – 46

Missing in isoform 3, isoform 4 and isoform 7.

VSP_007915

Alternative sequence

240 – 252

TTLRS…QAQKH → MNVRARVQMLAKF in isoform 4.

VSP_007916

Natural variant

R → H in DA2B.

VAR_026453

Experimental info

Sequence conflict

149

E → G in CAE45814. Ref.4

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Sequences

Sequence		Length	Mass (Da)
Isoform 1 (Tnt1) [UniParc]. Last modified January 23, 2007. Version 3. Checksum: 87B25AF8773D742F Show »	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 « Hide
Isoform 2 (Tnt3) [UniParc]. Checksum: F42BF2526BDC5ED9 Show »		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 « Hide
Isoform 3 (Tnt1f) [UniParc]. Checksum: 6D7AF5AF58952CD1 Show »		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 « Hide
Isoform 4 (Tnt3f) [UniParc]. Checksum: 3E60707FDA580499 Show »		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 « Hide
Isoform 5 (Tnt3f*) [UniParc]. Checksum: 320B367968566805 Show »		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 « Hide
Isoform 6 [UniParc]. Checksum: 9522A0CA453CB492 Show »		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 « Hide
Isoform 7 [UniParc]. Checksum: 9A9651EBDF220547 Show »		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 « Hide

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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: 8172653] [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]	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).
[4]	The German cDNA consortium Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6). Tissue: Liver.
[5]	"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).
[6]	"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).
[7]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 7). Tissue: Lung.
[8]	"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: 8062920] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-67 (ISOFORMS 1; 2; 3; 4 AND 5). Tissue: Skeletal muscle.
[9]	"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: 12865991] [Abstract] Cited for: VARIANT DA2B HIS-74.
+	Additional computationally mapped references.

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Web resources

GeneReviews

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Cross-references

Sequence databases
	M21984 mRNA. Translation: AAA36777.1. AF026276 Genomic DNA. Translation: AAF21629.1. DQ778624 mRNA. Translation: ABG77458.1. BX640689 mRNA. Translation: CAE45814.1. BT019997 mRNA. Translation: AAV38800.1. CR541927 mRNA. Translation: CAG46725.1. BC050446 mRNA. Translation: AAH50446.1. Different initiation. BC117327 mRNA. Translation: AAI17328.1. U14641 mRNA. Translation: AAA50359.1. U14642 mRNA. Translation: AAA50360.1. U14643 mRNA. Translation: AAA50361.1. U14644 mRNA. Translation: AAA50362.1.
PIR	I53021. S48660. S74259. S74260. S74261.
RefSeq	NP_001036245.1. NP_001036246.1. NP_001036247.1. NP_006748.1.
UniGene	Hs.73454
3D structure databases
HSSP	HSSP built from PDB template 1J1E based on UniProtKB P45379.
SMR	P45378. Positions 164-253.
ModBase	Search...
Protein-protein interaction databases
IntAct	P45378.
PTM databases
PhosphoSite	P45378.
Genome annotation databases
Ensembl	ENSG00000130595. Homo sapiens. [Contig view]
GeneID	7140.
KEGG	hsa:7140.
Organism-specific databases
H-InvDB	HIX0009346.
HGNC	HGNC:11950. TNNT3.
HPA	CAB002451.
MIM	600692. gene. 601680. phenotype.
Orphanet	1147. Freeman-Sheldon syndrome variant.
PharmGKB	PA36639.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	P45378.
HOVERGEN	P45378.
Gene expression databases
ArrayExpress	P45378.
CleanEx	HS_TNNT3.
Family and domain databases
InterPro	IPR001978. Troponin. [Graphical view]
Pfam	PF00992. Troponin. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	27943.
SOURCE	Search...

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Entry information

Entry name

TNNT3_HUMAN

Accession

Primary (citable) accession number: P45378
Secondary accession number(s): A8MSW1

Q86TH6

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	January 23, 2007
Last modified:	November 4, 2008
This is version 71 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

UniProtKB secondary accession numbers

Index of UniProtKB secondary accession numbers

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Keywords

Gene Ontology (GO)

Alternative products

Sequence annotation (Features)

Molecule processing

Amino acid modifications

Natural variations

Experimental info

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents