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P45378 (TNNT3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 122. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length269 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed By similarity
Chain2 – 269268Troponin T, fast skeletal muscle
PRO_0000186178

Amino acid modifications

Modified residue21N-acetylserine By similarity
Modified residue21Phosphoserine; by CK2 By similarity

Natural variations

Alternative sequence23 – 4624Missing in isoform 5.
VSP_009121
Alternative sequence23 – 3311Missing in isoform 2, isoform 4 and isoform 7.
VSP_007914
Alternative sequence34 – 4613Missing in isoform 6.
VSP_034964
Alternative sequence39 – 468Missing in isoform 3, isoform 4 and isoform 7.
VSP_007915
Alternative sequence240 – 25213TTLRS…QAQKH → MNVRARVQMLAKF in isoform 4.
VSP_007916
Natural variant741R → H in DA2B. Ref.11
VAR_026453

Experimental info

Sequence conflict1491E → G in CAE45814. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Tnt1) [UniParc].

Last modified January 23, 2007. Version 3.
Checksum: 87B25AF8773D742F

FASTA26931,825
        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 »

FASTA25830,596
Isoform 3 (Tnt1f) [UniParc].

Checksum: 6D7AF5AF58952CD1
Show »

FASTA26130,964
Isoform 4 (Tnt3f) [UniParc].

Checksum: 3E60707FDA580499
Show »

FASTA25029,746
Isoform 5 (Tnt3f*) [UniParc].

Checksum: 320B367968566805
Show »

FASTA24529,121
Isoform 6 [UniParc].

Checksum: 9522A0CA453CB492
Show »

FASTA25630,349
Isoform 7 [UniParc].

Checksum: 9A9651EBDF220547
Show »

FASTA25029,735

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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.

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.
CCDSCCDS41594.1. [P45378-6]
CCDS41595.1. [P45378-4]
CCDS41596.1. [P45378-7]
CCDS7727.1. [P45378-2]
PIRI53021.
S48660.
S74259.
S74260.
S74261.
RefSeqNP_001036245.1. NM_001042780.2. [P45378-4]
NP_001036246.1. NM_001042781.2. [P45378-6]
NP_001036247.1. NM_001042782.2. [P45378-7]
NP_006748.1. NM_006757.3. [P45378-2]
XP_006718353.1. XM_006718290.1. [P45378-1]
XP_006718356.1. XM_006718293.1. [P45378-3]
XP_006718363.1. XM_006718300.1. [P45378-5]
UniGeneHs.73454.

3D structure databases

ProteinModelPortalP45378.
SMRP45378. Positions 164-253.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112994. 10 interactions.
IntActP45378. 7 interactions.
MINTMINT-1410650.

PTM databases

PhosphoSiteP45378.

Polymorphism databases

DMDM33518637.

Proteomic databases

PaxDbP45378.
PRIDEP45378.

Protocols and materials databases

DNASU7140.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000278317; ENSP00000278317; ENSG00000130595. [P45378-2]
ENST00000344578; ENSP00000344870; ENSG00000130595. [P45378-5]
ENST00000381549; ENSP00000370961; ENSG00000130595. [P45378-7]
ENST00000381558; ENSP00000370970; ENSG00000130595. [P45378-7]
ENST00000381563; ENSP00000370975; ENSG00000130595. [P45378-3]
ENST00000381579; ENSP00000370991; ENSG00000130595. [P45378-4]
ENST00000381589; ENSP00000371001; ENSG00000130595. [P45378-6]
ENST00000397301; ENSP00000380468; ENSG00000130595. [P45378-1]
GeneID7140.
KEGGhsa:7140.
UCSCuc001luo.4. human. [P45378-4]
uc001lup.4. human. [P45378-6]
uc001luq.4. human. [P45378-7]
uc001luu.4. human. [P45378-2]
uc010qxg.2. human. [P45378-1]

Organism-specific databases

CTD7140.
GeneCardsGC11P001940.
HGNCHGNC:11950. TNNT3.
HPACAB002451.
HPA037810.
MIM600692. gene.
601680. phenotype.
neXtProtNX_P45378.
Orphanet1146. Digitotalar dysmorphism.
1147. Sheldon-Hall syndrome.
PharmGKBPA36639.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG299534.
HOVERGENHBG052790.
KOK12046.
OMAAHHEEAH.
OrthoDBEOG7W155J.
PhylomeDBP45378.
TreeFamTF313321.

Enzyme and pathway databases

ReactomeREACT_17044. Muscle contraction.

Gene expression databases

BgeeP45378.
GenevestigatorP45378.

Family and domain databases

InterProIPR027707. TNNT.
IPR027708. Tnnt3.
IPR001978. Troponin.
[Graphical view]
PANTHERPTHR11521. PTHR11521. 1 hit.
PTHR11521:SF4. PTHR11521:SF4. 1 hit.
PfamPF00992. Troponin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTNNT3. human.
GeneWikiTNNT3.
GenomeRNAi7140.
NextBio27943.
PROP45378.
SOURCESearch...

Entry information

Entry nameTNNT3_HUMAN
AccessionPrimary (citable) accession number: P45378
Secondary accession number(s): A8MQ76 expand/collapse secondary AC list , 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: July 9, 2014
This is version 122 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM