Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P48788 (TNNI2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 118. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | 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 I, fast skeletal muscle
Alternative name(s):
Troponin I, fast-twitch isoform
Gene names
Name:TNNI2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length182 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Binds to actin and tropomyosin.

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.5

Sequence similarities

Belongs to the troponin I family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P48788-1)

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: P48788-2)

The sequence of this isoform differs from the canonical sequence as follows:
     2-5: GDEE → MSQCK
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed By similarity
Chain2 – 182181Troponin I, fast skeletal muscle
PRO_0000186143

Regions

Calcium binding105 – 11612 By similarity
Region2 – 4847Involved in binding TNC
Region97 – 11721Involved in binding TNC and actin

Amino acid modifications

Modified residue21N-acetylglycine By similarity
Modified residue121Phosphothreonine By similarity
Modified residue1181Phosphoserine By similarity

Natural variations

Alternative sequence2 – 54GDEE → MSQCK in isoform 2.
VSP_046052
Natural variant1741R → Q in DA2B. Ref.5
VAR_016087

Secondary structure

.... 182
Helix Strand Turn

Details...

Sequences

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

Last modified January 23, 2007. Version 2.
Checksum: A204BF5616D748BB

FASTA18221,339
        10         20         30         40         50         60 
MGDEEKRNRA ITARRQHLKS VMLQIAATEL EKEESRREAE KQNYLAEHCP PLHIPGSMSE 

        70         80         90        100        110        120 
VQELCKQLHA KIDAAEEEKY DMEVRVQKTS KELEDMNQKL FDLRGKFKRP PLRRVRMSAD 

       130        140        150        160        170        180 
AMLKALLGSK HKVCMDLRAN LKQVKKEDTE KERDLRDVGD WRKNIEEKSG MEGRKKMFES 


ES 

« Hide

Isoform 2 [UniParc].

Checksum: BB44D362D4B4E094
Show »

FASTA18321,486

References

« Hide 'large scale' references
[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]"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].
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS31333.1. [P48788-1]
CCDS53594.1. [P48788-2]
PIRTPHUIS. S43508.
RefSeqNP_001139301.1. NM_001145829.1. [P48788-1]
NP_003273.1. NM_003282.3. [P48788-1]
UniGeneHs.523403.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2MKPNMR-I116-132[»]
ProteinModelPortalP48788.
SMRP48788. Positions 4-180.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112990. 6 interactions.
IntActP48788. 2 interactions.
MINTMINT-3016990.
STRING9606.ENSP00000252898.

PTM databases

PhosphoSiteP48788.

Polymorphism databases

DMDM1351297.

Proteomic databases

PaxDbP48788.
PRIDEP48788.

Protocols and materials databases

DNASU7136.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000252898; ENSP00000252898; ENSG00000130598. [P48788-1]
ENST00000381905; ENSP00000371330; ENSG00000130598. [P48788-2]
ENST00000381906; ENSP00000371331; ENSG00000130598. [P48788-1]
ENST00000381911; ENSP00000371336; ENSG00000130598. [P48788-1]
GeneID7136.
KEGGhsa:7136.
UCSCuc021qbt.1. human. [P48788-1]

Organism-specific databases

CTD7136.
GeneCardsGC11P001860.
HGNCHGNC:11946. TNNI2.
HPACAB018697.
MIM191043. gene.
601680. phenotype.
neXtProtNX_P48788.
Orphanet1146. Digitotalar dysmorphism.
1147. Sheldon-Hall syndrome.
PharmGKBPA36635.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG297734.
HOGENOMHOG000293300.
HOVERGENHBG052737.
InParanoidP48788.
KOK12043.
OMAYLSEHCP.
OrthoDBEOG71G9WD.
PhylomeDBP48788.
TreeFamTF313374.

Enzyme and pathway databases

ReactomeREACT_17044. Muscle contraction.

Gene expression databases

BgeeP48788.
CleanExHS_TNNI2.
GenevestigatorP48788.

Family and domain databases

InterProIPR001978. Troponin.
[Graphical view]
PfamPF00992. Troponin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiTNNI2.
GenomeRNAi7136.
NextBio27921.
PROP48788.
SOURCESearch...

Entry information

Entry nameTNNI2_HUMAN
AccessionPrimary (citable) accession number: P48788
Secondary accession number(s): A6NIV8, A6NJU5
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: January 23, 2007
Last modified: July 9, 2014
This is version 118 of the entry and version 2 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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