P13805 (TNNT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Troponin T, slow skeletal muscle
Short name=TnTs

Alternative name(s):
Slow skeletal muscle troponin T
Short name=sTnT

Gene names

Name:	TNNT1
Synonyms:	TNT

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	278 AA.
Sequence status	Complete.
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.
Involvement in disease	Nemaline myopathy 5 (NEM5) [MIM:605355]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-or rod-like structures in muscle fibers on histologic examination. Nemaline myopathy type 5 is a severe and progressive form common among Old Order Amish. Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips. Proximal contractures progressively weaken and a pectus carinatum deformity develops before children die of respiratory insufficiency, usually in the second year. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7
Sequence similarities	Belongs to the troponin T family.
Sequence caution	The sequence AAH22086.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Disease	Nemaline myopathy
Molecular function	Muscle protein
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	muscle filament sliding Traceable author statement. Source: Reactome negative regulation of muscle contraction Inferred from direct assay PubMed 18032382. Source: UniProtKB skeletal muscle contraction Inferred from mutant phenotype Ref.7. Source: UniProtKB
Cellular_component	cytosol Traceable author statement. Source: Reactome troponin complex Inferred from direct assay PubMed 18032382. Source: UniProtKB
Molecular_function	tropomyosin binding Inferred from mutant phenotype PubMed 15665378. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P13805-1)

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: P13805-2)

The sequence of this isoform differs from the canonical sequence as follows:
     25-35: Missing.
     205-220: Missing.

Isoform 3 (identifier: P13805-3)

The sequence of this isoform differs from the canonical sequence as follows:
     205-220: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 278	278	Troponin T, slow skeletal muscle		PRO_0000186168
Amino acid modifications
	Modified residue	2	1	Phosphoserine; by CK2 By similarity
Natural variations
	Alternative sequence	25 – 35	11	Missing in isoform 2.		VSP_006639
	Alternative sequence	205 – 220	16	Missing in isoform 2 and isoform 3.		VSP_006640
Experimental info
	Sequence conflict	20	1	E → D in AAA61204. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 23, 2007. Version 4. Checksum: D94DB18BC5804E04	FASTA	278	32,948
	10 20 30 40 50 60 MSDTEEQEYE EEQPEEEAAE EEEEAPEEPE PVAEPEEERP KPSRPVVPPL IPPKIPEGER 70 80 90 100 110 120 VDFDDIHRKR MEKDLLELQT LIDVHFEQRK KEEEELVALK ERIERRRSER AEQQRFRTEK 130 140 150 160 170 180 ERERQAKLAE EKMRKEEEEA KKRAEDDAKK KKVLSNMGAH FGGYLVKAEQ KRGKRQTGRE 190 200 210 220 230 240 MKVRILSERK KPLDIDYMGE EQLRARSAWL PPSQPSCPAR EKAQELSDWI HQLESEKFDL 250 260 270 MAKLKQQKYE INVLYNRISH AQKFRKGAGK GRVGGRWK
	Isoform 2 [UniParc]. Checksum: DA9E80D5F8B5DE19	FASTA	251	30,096
	10 20 30 40 50 60 MSDTEEQEYE EEQPEEEAAE EEEEEEERPK PSRPVVPPLI PPKIPEGERV DFDDIHRKRM 70 80 90 100 110 120 EKDLLELQTL IDVHFEQRKK EEEELVALKE RIERRRSERA EQQRFRTEKE RERQAKLAEE 130 140 150 160 170 180 KMRKEEEEAK KRAEDDAKKK KVLSNMGAHF GGYLVKAEQK RGKRQTGREM KVRILSERKK 190 200 210 220 230 240 PLDIDYMGEE QLREKAQELS DWIHQLESEK FDLMAKLKQQ KYEINVLYNR ISHAQKFRKG 250 AGKGRVGGRW K
	Isoform 3 [UniParc]. Checksum: 9CBA4A8DF3884CAF	FASTA	262	31,242
	10 20 30 40 50 60 MSDTEEQEYE EEQPEEEAAE EEEEAPEEPE PVAEPEEERP KPSRPVVPPL IPPKIPEGER 70 80 90 100 110 120 VDFDDIHRKR MEKDLLELQT LIDVHFEQRK KEEEELVALK ERIERRRSER AEQQRFRTEK 130 140 150 160 170 180 ERERQAKLAE EKMRKEEEEA KKRAEDDAKK KKVLSNMGAH FGGYLVKAEQ KRGKRQTGRE 190 200 210 220 230 240 MKVRILSERK KPLDIDYMGE EQLREKAQEL SDWIHQLESE KFDLMAKLKQ QKYEINVLYN 250 260 RISHAQKFRK GAGKGRVGGR WK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Alternative splicing generates variants in important functional domains of human slow skeletal troponin T." Gahlmann R., Troutt A.B., Wade R.P., Gunning P., Kedes L. J. Biol. Chem. 262:16122-16126(1987) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"A new human slow skeletal troponin T (TnTs) mRNA isoform derived from alternative splicing of a single gene." Samson F., Mesnard L., Mihovilovic M., Potter T.G., Mercadier J.-J., Roses A.D., Gilbert J.R. Biochem. Biophys. Res. Commun. 199:841-847(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Skeletal muscle.
[3]	"Close physical linkage of human troponin genes: organization, sequence, and expression of the locus encoding cardiac troponin I and slow skeletal troponin T." Barton P.J.R., Cullen M.E., Townsend P.J., Brand N.J., Mullen A.J., Norman D.A.M., Bhavsar P.K., Yacoub M.H. Genomics 57:102-109(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1; 2 AND 3).
[4]	"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 2).
[5]	"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] (ISOFORM 3). Tissue: Skeletal muscle.
[6]	"Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene." Novelli G., Gennarelli M., Sangiuolo F., D'Agruma L., Lo Cicero S., Melchionda S., Dallapiccola B. Cell Biochem. Funct. 11:187-191(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 254-278.
[7]	"A novel nemaline myopathy in the Amish caused by a mutation in troponin T1." Johnston J.J., Kelley R.I., Crawford T.O., Morton D.H., Agarwala R., Koch T., Schaeffer A.A., Francomano C.A., Biesecker L.G. Am. J. Hum. Genet. 67:814-821(2000) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN NEM5.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	M19308 mRNA. Translation: AAA61205.1. M19309 mRNA. Translation: AAA61204.1. S69208 mRNA. Translation: AAB30272.1. S69209 mRNA. Translation: AAB30273.1. AJ011712, AJ011713 Genomic DNA. Translation: CAA09750.1. AJ011712, AJ011713 Genomic DNA. Translation: CAA09751.1. AJ011712, AJ011713 Genomic DNA. Translation: CAA09752.1. BT019630 mRNA. Translation: AAV38436.1. BC010963 mRNA. Translation: AAH10963.1. BC022086 mRNA. Translation: AAH22086.2. Different initiation. BC034143 mRNA. Translation: AAH34143.1. S66057, S66170 Genomic DNA. Translation: AAD13978.1. Sequence problems.
IPI	IPI00220467. IPI00395442. IPI00643758.
PIR	TPHUTW. A29783.
RefSeq	NP_001119604.1. NM_001126132.1. NP_001119605.1. NM_001126133.1. NP_003274.3. NM_003283.4.
UniGene	Hs.631558.
3D structure databases
ProteinModelPortal	P13805.
ModBase	Search...
Protein-protein interaction databases
IntAct	P13805. 11 interactions.
MINT	MINT-1410243.
STRING	9606.ENSP00000291901.
PTM databases
PhosphoSite	P13805.
Polymorphism databases
DMDM	1174800.
Proteomic databases
PaxDb	P13805.
PRIDE	P13805.
Protocols and materials databases
DNASU	7138.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000291901; ENSP00000291901; ENSG00000105048. ENST00000356783; ENSP00000349233; ENSG00000105048. ENST00000587758; ENSP00000467789; ENSG00000105048. ENST00000588981; ENSP00000467176; ENSG00000105048.
GeneID	7138.
KEGG	hsa:7138.
UCSC	uc002qjb.4. human. uc002qjc.4. human. uc002qjd.4. human.
Organism-specific databases
CTD	7138.
GeneCards	GC19M055644.
HGNC	HGNC:11948. TNNT1.
HPA	CAB015168.
MIM	191041. gene. 605355. phenotype.
neXtProt	NX_P13805.
Orphanet	98902. Amish nemaline myopathy.
PharmGKB	PA36637.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG299534.
HOGENOM	HOG000231049.
HOVERGEN	HBG052790.
InParanoid	P13805.
KO	K10372.
OMA	KERDRQT.
PhylomeDB	P13805.
Enzyme and pathway databases
Reactome	REACT_17044. Muscle contraction.
Gene expression databases
ArrayExpress	P13805.
Bgee	P13805.
CleanEx	HS_TNNT1.
Genevestigator	P13805.
GermOnline	ENSG00000105048. Homo sapiens.
Family and domain databases
InterPro	IPR001978. Troponin. [Graphical view]
Pfam	PF00992. Troponin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	TNNT1. human.
GenomeRNAi	7138.
NextBio	27929.
SOURCE	Search...

Entry information

Entry name

TNNT1_HUMAN

Accession

Primary (citable) accession number: P13805
Secondary accession number(s): O95472, Q16061, Q5U0E1

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1990
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 125 of the entry and version 4 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.