P48788 (TNNI2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Troponin I, fast skeletal muscle

Alternative name(s):
Troponin I, fast-twitch isoform

Gene names

Name:

TNNI2

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
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	muscle filament sliding Traceable author statement. Source: Reactome positive regulation of transcription, DNA-dependent Inferred from direct assay. Source: UniProtKB skeletal muscle contraction Inferred from direct assay. Source: UniProtKB
Cellular component	cytosol Traceable author statement. Source: Reactome nucleus Inferred from direct assay. Source: UniProtKB troponin complex Inferred from direct assay. Source: UniProtKB
Molecular function	actin binding Inferred from electronic annotation. Source: UniProtKB-KW troponin T binding Inferred 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

	Sequence		Length	Mass (Da)
	P48788 [UniParc]. Last modified January 23, 2007. Version 2. Checksum: A204BF5616D748BB	FASTA	182	21,339
	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

References

	« Hide 'large scale' referencesShow '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. , 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: 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.

Web resources

GeneReviews

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.
IPI	IPI00216236.
PIR	TPHUIS. S43508.
RefSeq	NP_001139301.1. NM_001145829.1. NP_003273.1. NM_003282.3.
UniGene	Hs.523403.
3D structure databases
ProteinModelPortal	P48788.
SMR	P48788. Positions 4-180.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-3016990.
STRING	P48788.
PTM databases
PhosphoSite	P48788.
Polymorphism databases
DMDM	1351297.
Proteomic databases
PRIDE	P48788.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000252898; ENSP00000252898; ENSG00000130598. ENST00000381906; ENSP00000371331; ENSG00000130598. ENST00000381911; ENSP00000371336; ENSG00000130598.
GeneID	7136.
KEGG	hsa:7136.
UCSC	uc009ydc.1. human.
Organism-specific databases
CTD	7136.
GeneCards	GC11P001860.
H-InvDB	HIX0201679.
HGNC	HGNC:11946. TNNI2.
HPA	CAB018697.
MIM	191043. gene. 601680. phenotype.
neXtProt	NX_P48788.
Orphanet	1147. Sheldon-Hall syndrome.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG10695.
GeneTree	ENSGT00390000002746.
HOGENOM	HBG444832.
HOVERGEN	HBG052737.
InParanoid	P48788.
OMA	YDMEVKV.
OrthoDB	EOG4001KH.
Enzyme and pathway databases
Reactome	REACT_17044. Muscle contraction.
Gene expression databases
ArrayExpress	P48788.
Bgee	P48788.
CleanEx	HS_TNNI2.
Genevestigator	P48788.
GermOnline	ENSG00000130598. Homo sapiens.
Family and domain databases
InterPro	IPR001978. Troponin. [Graphical view]
KO	K12043.
Pfam	PF00992. Troponin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	27921.
SOURCE	Search...

Entry information

Entry name

TNNI2_HUMAN

Accession

Primary (citable) accession number: P48788
Secondary accession number(s): A6NJU5

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1996
Last sequence update:	January 23, 2007
Last modified:	January 25, 2012
This is version 95 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.