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Protein

Troponin I, fast skeletal muscle

Gene

TNNI2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
Calcium bindingi105 – 116By similarityAdd BLAST12

GO - Molecular functioni

  • actin binding Source: UniProtKB-KW
  • troponin T binding Source: UniProtKB

GO - Biological processi

  • cardiac muscle contraction Source: GO_Central
  • muscle contraction Source: GO_Central
  • muscle filament sliding Source: Reactome
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • regulation of muscle contraction Source: Ensembl
  • skeletal muscle contraction Source: UniProtKB

Keywordsi

Molecular functionActin-binding, Muscle protein

Enzyme and pathway databases

ReactomeiR-HSA-390522 Striated Muscle Contraction
SIGNORiP48788

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
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000130598.15
HGNCiHGNC:11946 TNNI2
MIMi191043 gene
neXtProtiNX_P48788

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Arthrogryposis, distal, 2B (DA2B)1 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_016087174R → Q in DA2B. 1 PublicationCorresponds to variant dbSNP:rs104894311EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi7136
MalaCardsiTNNI2
MIMi601680 phenotype
OpenTargetsiENSG00000130598
Orphaneti1146 Digitotalar dysmorphism
1147 Sheldon-Hall syndrome
PharmGKBiPA36635

Chemistry databases

ChEMBLiCHEMBL3831282

Polymorphism and mutation databases

BioMutaiTNNI2
DMDMi1351297

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00001861432 – 182Troponin I, fast skeletal muscleAdd BLAST181

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylglycineBy similarity1
Modified residuei12PhosphothreonineBy similarity1
Modified residuei118PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

PaxDbiP48788
PeptideAtlasiP48788
PRIDEiP48788
ProteomicsDBi55948

PTM databases

iPTMnetiP48788
PhosphoSitePlusiP48788

Expressioni

Gene expression databases

BgeeiENSG00000130598 Expressed in 118 organ(s), highest expression level in biceps brachii
CleanExiHS_TNNI2
ExpressionAtlasiP48788 baseline and differential
GenevisibleiP48788 HS

Organism-specific databases

HPAiCAB018697
HPA055938

Interactioni

Subunit structurei

Binds to actin and tropomyosin.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112990, 15 interactors
IntActiP48788, 3 interactors
MINTiP48788
STRINGi9606.ENSP00000252898

Structurei

Secondary structure

1182
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP48788
SMRiP48788
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 48Involved in binding TNCAdd BLAST47
Regioni97 – 117Involved in binding TNC and actinAdd BLAST21

Sequence similaritiesi

Belongs to the troponin I family.Curated

Phylogenomic databases

eggNOGiKOG3977 Eukaryota
ENOG410Y9IX LUCA
GeneTreeiENSGT00390000002746
HOGENOMiHOG000293300
HOVERGENiHBG052737
InParanoidiP48788
KOiK12043
OMAiPDWSKKN
PhylomeDBiP48788
TreeFamiTF313374

Family and domain databases

Gene3Di1.20.5.350, 1 hit
InterProiView protein in InterPro
IPR001978 Troponin
IPR038077 Troponin_sf
PfamiView protein in Pfam
PF00992 Troponin, 1 hit

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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WXS0A0A087WXS0_HUMAN
Troponin I, fast skeletal muscle
TNNI2
182Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_016087174R → Q in DA2B. 1 PublicationCorresponds to variant dbSNP:rs104894311EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0460521 – 5MGDEE → MSQCK in isoform 2. 1 Publication5

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.2 human [P48788-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

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
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2MKPNMR-I116-132[»]
ProteinModelPortaliP48788
SMRiP48788
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112990, 15 interactors
IntActiP48788, 3 interactors
MINTiP48788
STRINGi9606.ENSP00000252898

Chemistry databases

ChEMBLiCHEMBL3831282

PTM databases

iPTMnetiP48788
PhosphoSitePlusiP48788

Polymorphism and mutation databases

BioMutaiTNNI2
DMDMi1351297

Proteomic databases

PaxDbiP48788
PeptideAtlasiP48788
PRIDEiP48788
ProteomicsDBi55948

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.2 human [P48788-1]

Organism-specific databases

CTDi7136
DisGeNETi7136
EuPathDBiHostDB:ENSG00000130598.15
GeneCardsiTNNI2
HGNCiHGNC:11946 TNNI2
HPAiCAB018697
HPA055938
MalaCardsiTNNI2
MIMi191043 gene
601680 phenotype
neXtProtiNX_P48788
OpenTargetsiENSG00000130598
Orphaneti1146 Digitotalar dysmorphism
1147 Sheldon-Hall syndrome
PharmGKBiPA36635
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3977 Eukaryota
ENOG410Y9IX LUCA
GeneTreeiENSGT00390000002746
HOGENOMiHOG000293300
HOVERGENiHBG052737
InParanoidiP48788
KOiK12043
OMAiPDWSKKN
PhylomeDBiP48788
TreeFamiTF313374

Enzyme and pathway databases

ReactomeiR-HSA-390522 Striated Muscle Contraction
SIGNORiP48788

Miscellaneous databases

GeneWikiiTNNI2
GenomeRNAii7136
PROiPR:P48788
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130598 Expressed in 118 organ(s), highest expression level in biceps brachii
CleanExiHS_TNNI2
ExpressionAtlasiP48788 baseline and differential
GenevisibleiP48788 HS

Family and domain databases

Gene3Di1.20.5.350, 1 hit
InterProiView protein in InterPro
IPR001978 Troponin
IPR038077 Troponin_sf
PfamiView protein in Pfam
PF00992 Troponin, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTNNI2_HUMAN
AccessioniPrimary (citable) accession number: P48788
Secondary accession number(s): A6NIV8, A6NJU5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: January 23, 2007
Last modified: November 7, 2018
This is version 150 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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