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Protein

Troponin I, fast skeletal muscle

Gene

TNNI2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Calcium bindingi105 – 11612By similarityAdd
BLAST

GO - Molecular functioni

  1. troponin T binding Source: UniProtKB

GO - Biological processi

  1. muscle filament sliding Source: Reactome
  2. positive regulation of transcription, DNA-templated Source: UniProtKB
  3. regulation of muscle contraction Source: Ensembl
  4. skeletal muscle contraction Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

ReactomeiREACT_16969. Striated Muscle Contraction.

Names & Taxonomyi

Protein namesi
Recommended name:
Troponin I, fast skeletal muscle
Alternative name(s):
Troponin I, fast-twitch isoform
Gene namesi
Name:TNNI2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:11946. TNNI2.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. nucleus Source: UniProtKB
  3. troponin complex Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Arthrogryposis, distal, 2B1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:601680
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti174 – 1741R → Q in DA2B. 1 Publication
VAR_016087

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi601680. phenotype.
Orphaneti1146. Digitotalar dysmorphism.
1147. Sheldon-Hall syndrome.
PharmGKBiPA36635.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11RemovedBy similarity
Chaini2 – 182181Troponin I, fast skeletal musclePRO_0000186143Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylglycineBy similarity
Modified residuei12 – 121PhosphothreonineBy similarity
Modified residuei118 – 1181PhosphoserineBy similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

PaxDbiP48788.
PRIDEiP48788.

PTM databases

PhosphoSiteiP48788.

Expressioni

Gene expression databases

BgeeiP48788.
CleanExiHS_TNNI2.
ExpressionAtlasiP48788. baseline and differential.
GenevestigatoriP48788.

Organism-specific databases

HPAiCAB018697.
HPA055938.

Interactioni

Subunit structurei

Binds to actin and tropomyosin.

Protein-protein interaction databases

BioGridi112990. 7 interactions.
IntActiP48788. 2 interactions.
MINTiMINT-3016990.
STRINGi9606.ENSP00000252898.

Structurei

Secondary structure

1
182
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi119 – 1246Combined sources
Turni125 – 1273Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2MKPNMR-I116-132[»]
ProteinModelPortaliP48788.
SMRiP48788. Positions 4-180.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni2 – 4847Involved in binding TNCAdd
BLAST
Regioni97 – 11721Involved in binding TNC and actinAdd
BLAST

Sequence similaritiesi

Belongs to the troponin I family.Curated

Phylogenomic databases

eggNOGiNOG297734.
GeneTreeiENSGT00390000002746.
HOGENOMiHOG000293300.
HOVERGENiHBG052737.
InParanoidiP48788.
KOiK12043.
OMAiHIPGSMA.
OrthoDBiEOG71G9WD.
PhylomeDBiP48788.
TreeFamiTF313374.

Family and domain databases

InterProiIPR001978. Troponin.
[Graphical view]
PfamiPF00992. Troponin. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P48788-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MGDEEKRNRA ITARRQHLKS VMLQIAATEL EKEESRREAE KQNYLAEHCP
60 70 80 90 100
PLHIPGSMSE VQELCKQLHA KIDAAEEEKY DMEVRVQKTS KELEDMNQKL
110 120 130 140 150
FDLRGKFKRP PLRRVRMSAD AMLKALLGSK HKVCMDLRAN LKQVKKEDTE
160 170 180
KERDLRDVGD WRKNIEEKSG MEGRKKMFES ES
Length:182
Mass (Da):21,339
Last modified:January 23, 2007 - v2
Checksum:iA204BF5616D748BB
GO
Isoform 2 (identifier: P48788-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-5: MGDEE → MSQCK

Note: No experimental confirmation available.

Show »
Length:182
Mass (Da):21,355
Checksum:i60D208DFD4F9D4C9
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti174 – 1741R → Q in DA2B. 1 Publication
VAR_016087

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 55MGDEE → MSQCK in isoform 2. 1 PublicationVSP_046052

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L21715 mRNA. Translation: AAA19813.1.
AJ245761 Genomic DNA. Translation: CAB59981.1.
AC051649 Genomic DNA. No translation available.
BC032148 mRNA. Translation: AAH32148.1.
BI833431 mRNA. No translation available.
CCDSiCCDS31333.1. [P48788-1]
CCDS53594.1. [P48788-2]
PIRiS43508. TPHUIS.
RefSeqiNP_001139301.1. NM_001145829.1. [P48788-1]
NP_001139313.1. NM_001145841.1. [P48788-2]
NP_003273.1. NM_003282.3. [P48788-1]
UniGeneiHs.523403.

Genome annotation databases

EnsembliENST00000252898; ENSP00000252898; ENSG00000130598. [P48788-1]
ENST00000381905; ENSP00000371330; ENSG00000130598. [P48788-2]
ENST00000381906; ENSP00000371331; ENSG00000130598. [P48788-1]
ENST00000381911; ENSP00000371336; ENSG00000130598. [P48788-1]
GeneIDi7136.
KEGGihsa:7136.
UCSCiuc010qxe.1. human.
uc021qbt.1. human. [P48788-1]

Polymorphism databases

DMDMi1351297.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L21715 mRNA. Translation: AAA19813.1.
AJ245761 Genomic DNA. Translation: CAB59981.1.
AC051649 Genomic DNA. No translation available.
BC032148 mRNA. Translation: AAH32148.1.
BI833431 mRNA. No translation available.
CCDSiCCDS31333.1. [P48788-1]
CCDS53594.1. [P48788-2]
PIRiS43508. TPHUIS.
RefSeqiNP_001139301.1. NM_001145829.1. [P48788-1]
NP_001139313.1. NM_001145841.1. [P48788-2]
NP_003273.1. NM_003282.3. [P48788-1]
UniGeneiHs.523403.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2MKPNMR-I116-132[»]
ProteinModelPortaliP48788.
SMRiP48788. Positions 4-180.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112990. 7 interactions.
IntActiP48788. 2 interactions.
MINTiMINT-3016990.
STRINGi9606.ENSP00000252898.

PTM databases

PhosphoSiteiP48788.

Polymorphism databases

DMDMi1351297.

Proteomic databases

PaxDbiP48788.
PRIDEiP48788.

Protocols and materials databases

DNASUi7136.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000252898; ENSP00000252898; ENSG00000130598. [P48788-1]
ENST00000381905; ENSP00000371330; ENSG00000130598. [P48788-2]
ENST00000381906; ENSP00000371331; ENSG00000130598. [P48788-1]
ENST00000381911; ENSP00000371336; ENSG00000130598. [P48788-1]
GeneIDi7136.
KEGGihsa:7136.
UCSCiuc010qxe.1. human.
uc021qbt.1. human. [P48788-1]

Organism-specific databases

CTDi7136.
GeneCardsiGC11P001860.
HGNCiHGNC:11946. TNNI2.
HPAiCAB018697.
HPA055938.
MIMi191043. gene.
601680. phenotype.
neXtProtiNX_P48788.
Orphaneti1146. Digitotalar dysmorphism.
1147. Sheldon-Hall syndrome.
PharmGKBiPA36635.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG297734.
GeneTreeiENSGT00390000002746.
HOGENOMiHOG000293300.
HOVERGENiHBG052737.
InParanoidiP48788.
KOiK12043.
OMAiHIPGSMA.
OrthoDBiEOG71G9WD.
PhylomeDBiP48788.
TreeFamiTF313374.

Enzyme and pathway databases

ReactomeiREACT_16969. Striated Muscle Contraction.

Miscellaneous databases

GeneWikiiTNNI2.
GenomeRNAii7136.
NextBioi27921.
PROiP48788.
SOURCEiSearch...

Gene expression databases

BgeeiP48788.
CleanExiHS_TNNI2.
ExpressionAtlasiP48788. baseline and differential.
GenevestigatoriP48788.

Family and domain databases

InterProiIPR001978. Troponin.
[Graphical view]
PfamiPF00992. Troponin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Sequencing of a cDNA encoding the human fast-twitch skeletal muscle isoform of troponin I."
    Zhu L., Perez-Alvarado G., Wade R.
    Biochim. Biophys. Acta 1217:338-340(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Skeletal muscle.
  2. "Structural characterization of the human fast skeletal muscle troponin I gene (TNNI2)."
    Mullen A.J., Barton P.J.R.
    Gene 242:313-320(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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 1 AND 2).
    Tissue: Muscle.
  5. "Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes."
    Sung S.S., Brassington A.-M.E., Grannatt K., Rutherford A., Whitby F.G., Krakowiak P.A., Jorde L.B., Carey J.C., Bamshad M.
    Am. J. Hum. Genet. 72:681-690(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DA2B GLN-174.

Entry informationi

Entry nameiTNNI2_HUMAN
AccessioniPrimary (citable) accession number: P48788
Secondary accession number(s): A6NIV8, A6NJU5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: January 23, 2007
Last modified: March 4, 2015
This is version 125 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.