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P48788

- TNNI2_HUMAN

UniProt

P48788 - TNNI2_HUMAN

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Protein
Troponin I, fast skeletal muscle
Gene
TNNI2
Organism
Homo sapiens (Human)
Status
Reviewed - 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 – 11612 By similarity
Add
BLAST

GO - Molecular functioni

  1. protein binding Source: UniProtKB
  2. troponin T binding Source: UniProtKB

GO - Biological processi

  1. muscle filament sliding Source: Reactome
  2. positive regulation of transcription, DNA-templated Source: UniProtKB
  3. 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, 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.1 Publication
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 – 11Removed By similarity
Chaini2 – 182181Troponin I, fast skeletal muscle
PRO_0000186143Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylglycine By similarity
Modified residuei12 – 121Phosphothreonine By similarity
Modified residuei118 – 1181Phosphoserine By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

PaxDbiP48788.
PRIDEiP48788.

PTM databases

PhosphoSiteiP48788.

Expressioni

Gene expression databases

BgeeiP48788.
CleanExiHS_TNNI2.
GenevestigatoriP48788.

Organism-specific databases

HPAiCAB018697.

Interactioni

Subunit structurei

Binds to actin and tropomyosin.

Protein-protein interaction databases

BioGridi112990. 6 interactions.
IntActiP48788. 2 interactions.
MINTiMINT-3016990.
STRINGi9606.ENSP00000252898.

Structurei

Secondary structure

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

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2MKPNMR-I116-132[»]
ProteinModelPortaliP48788.
SMRiP48788. Positions 4-180.

Family & Domainsi

Region

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

Sequence similaritiesi

Belongs to the troponin I family.

Phylogenomic databases

eggNOGiNOG297734.
HOGENOMiHOG000293300.
HOVERGENiHBG052737.
InParanoidiP48788.
KOiK12043.
OMAiYLSEHCP.
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. Align

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

MGDEEKRNRA ITARRQHLKS VMLQIAATEL EKEESRREAE KQNYLAEHCP    50
PLHIPGSMSE VQELCKQLHA KIDAAEEEKY DMEVRVQKTS KELEDMNQKL 100
FDLRGKFKRP PLRRVRMSAD AMLKALLGSK HKVCMDLRAN LKQVKKEDTE 150
KERDLRDVGD WRKNIEEKSG MEGRKKMFES ES 182
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:
     2-5: GDEE → MSQCK

Note: No experimental confirmation available.

Show »
Length:183
Mass (Da):21,486
Checksum:iBB44D362D4B4E094
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 sequencei2 – 54GDEE → MSQCK in isoform 2.
VSP_046052

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
PIRiS43508. TPHUIS.
RefSeqiNP_001139301.1. NM_001145829.1. [P48788-1]
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.
UCSCiuc021qbt.1. human. [P48788-1]

Polymorphism databases

DMDMi1351297.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS31333.1. [P48788-1 ]
PIRi S43508. TPHUIS.
RefSeqi NP_001139301.1. NM_001145829.1. [P48788-1 ]
NP_003273.1. NM_003282.3. [P48788-1 ]
UniGenei Hs.523403.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2MKP NMR - I 116-132 [» ]
ProteinModelPortali P48788.
SMRi P48788. Positions 4-180.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112990. 6 interactions.
IntActi P48788. 2 interactions.
MINTi MINT-3016990.
STRINGi 9606.ENSP00000252898.

PTM databases

PhosphoSitei P48788.

Polymorphism databases

DMDMi 1351297.

Proteomic databases

PaxDbi P48788.
PRIDEi P48788.

Protocols and materials databases

DNASUi 7136.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000252898 ; ENSP00000252898 ; ENSG00000130598 . [P48788-1 ]
ENST00000381905 ; ENSP00000371330 ; ENSG00000130598 . [P48788-2 ]
ENST00000381906 ; ENSP00000371331 ; ENSG00000130598 . [P48788-1 ]
ENST00000381911 ; ENSP00000371336 ; ENSG00000130598 . [P48788-1 ]
GeneIDi 7136.
KEGGi hsa:7136.
UCSCi uc021qbt.1. human. [P48788-1 ]

Organism-specific databases

CTDi 7136.
GeneCardsi GC11P001860.
HGNCi HGNC:11946. TNNI2.
HPAi CAB018697.
MIMi 191043. gene.
601680. phenotype.
neXtProti NX_P48788.
Orphaneti 1146. Digitotalar dysmorphism.
1147. Sheldon-Hall syndrome.
PharmGKBi PA36635.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG297734.
HOGENOMi HOG000293300.
HOVERGENi HBG052737.
InParanoidi P48788.
KOi K12043.
OMAi YLSEHCP.
OrthoDBi EOG71G9WD.
PhylomeDBi P48788.
TreeFami TF313374.

Enzyme and pathway databases

Reactomei REACT_16969. Striated Muscle Contraction.

Miscellaneous databases

GeneWikii TNNI2.
GenomeRNAii 7136.
NextBioi 27921.
PROi P48788.
SOURCEi Search...

Gene expression databases

Bgeei P48788.
CleanExi HS_TNNI2.
Genevestigatori P48788.

Family and domain databases

InterProi IPR001978. Troponin.
[Graphical view ]
Pfami PF00992. Troponin. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: September 3, 2014
This is version 119 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

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