Reviewed,
UniProtKB/Swiss-Prot P48788 (TNNI2_HUMAN)
Last modified
June 16, 2009.
Version 70.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Troponin I, fast skeletal muscle Alternative name(s): Troponin I, fast-twitch isoform | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 182 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence 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 | Defects in TNNI2 are a cause of distal arthrogryposis type 2B (DA2B) [MIM:601680]; also known as arthrogryposis multiplex congenita, distal, type 2B (AMCD2B). DA2B is a form of inherited multiple congenital contractures. Affected individuals have vertical talus, ulnar deviation in the hands, severe camptodactyly, and a distinctive face characterized by a triangular shape, prominent nasolabial folds, small mouth and a prominent chin. Ref.5 |
| Sequence similarities | Belongs to the troponin I family. |
Ontologies
| Keywords | |
|---|---|
| Disease | Disease mutation |
| Ligand | Actin-binding |
| Molecular function | Muscle protein |
| Gene Ontology (GO) | |
| Biological process | positive regulation of transcription Inferred from direct assay. Source: UniProtKB skeletal muscle contractionInferred from direct assay. Source: UniProtKB |
| Cellular component | nucleus Inferred from direct assay. Source: UniProtKB troponin complexInferred from direct assay. Source: UniProtKB |
| Molecular function | actin binding Inferred from electronic annotation. Source: UniProtKB-KW troponin T bindingInferred from physical interaction. Source: UniProtKB |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed By similarity | ||||||
| Chain | 2 – 182 | 181 | Troponin I, fast skeletal muscle | PRO_0000186143 | |||||
Regions | |||||||||
| Region | 2 – 48 | 47 | Involved in binding TNC | ||||||
| Region | 97 – 117 | 21 | Involved in binding TNC and actin | ||||||
Natural variations | |||||||||
| Natural variant | 174 | 1 | R → Q in DA2B. Ref.5 | VAR_016087 | |||||
Sequences
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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: 8148383] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. 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: 10721725] [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. Sakaki Y.Nature 440:497-500(2006) [PubMed: 16554811] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. 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: 12592607] [Abstract] Cited for: VARIANT DA2B GLN-174. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| L21715 mRNA. Translation: AAA19813.1. AJ245761 Genomic DNA. Translation: CAB59981.1. AC051649 Genomic DNA. No translation available. BC032148 mRNA. Translation: AAH32148.1. | |
| IPI | IPI00216236. |
| PIR | TPHUIS. S43508. |
| RefSeq | NP_001139301.1. NP_003273.1. |
| UniGene | Hs.523403 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1A2X based on UniProtKB P02643. |
| SMR | P48788. Positions 4-144. |
| ModBase | Search... |
Proteomic databases | |
| PRIDE | P48788. |
Genome annotation databases | |
| Ensembl | ENSG00000130598. Homo sapiens. [Contig view] |
| GeneID | 7136. |
| KEGG | hsa:7136. |
Organism-specific databases | |
| GeneCards | GC11P001824. |
| H-InvDB | HIX0009350. |
| HGNC | HGNC:11946. TNNI2. |
| HPA | CAB018697. |
| MIM | 191043. gene. 601680. phenotype. |
| Orphanet | 1147. Sheldon-Hall syndrome. |
| PharmGKB | PA36635. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | P48788. |
| HOVERGEN | P48788. |
| OMA | P48788. YDMEVKV. |
Gene expression databases | |
| ArrayExpress | P48788. |
| Bgee | P48788. |
| CleanEx | HS_TNNI2. |
| GermOnline | ENSG00000130598. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001978. Troponin. [Graphical view] |
| Pfam | PF00992. Troponin. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 27921. |
| SOURCE | Search... |
Entry information
| Entry name | TNNI2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P48788 Secondary accession number(s): A6NJU5 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 11 Human chromosome 11: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


