TNNI2_HUMAN
ID TNNI2_HUMAN Reviewed; 182 AA.
AC P48788; A6NIV8; A6NJU5;
DT 01-FEB-1996, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 2.
DT 03-AUG-2022, entry version 173.
DE RecName: Full=Troponin I, fast skeletal muscle;
DE AltName: Full=Troponin I, fast-twitch isoform;
GN Name=TNNI2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Skeletal muscle;
RX PubMed=8148383; DOI=10.1016/0167-4781(94)90297-6;
RA Zhu L., Perez-Alvarado G., Wade R.;
RT "Sequencing of a cDNA encoding the human fast-twitch skeletal muscle
RT isoform of troponin I.";
RL Biochim. Biophys. Acta 1217:338-340(1994).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=10721725; DOI=10.1016/s0378-1119(99)00519-3;
RA Mullen A.J., Barton P.J.R.;
RT "Structural characterization of the human fast skeletal muscle troponin I
RT gene (TNNI2).";
RL Gene 242:313-320(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Muscle;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP VARIANT DA2B1 GLN-174.
RX PubMed=12592607; DOI=10.1086/368294;
RA Sung S.S., Brassington A.-M.E., Grannatt K., Rutherford A., Whitby F.G.,
RA Krakowiak P.A., Jorde L.B., Carey J.C., Bamshad M.;
RT "Mutations in genes encoding fast-twitch contractile proteins cause distal
RT arthrogryposis syndromes.";
RL Am. J. Hum. Genet. 72:681-690(2003).
CC -!- FUNCTION: Troponin I is the inhibitory subunit of troponin, the thin
CC filament regulatory complex which confers calcium-sensitivity to
CC striated muscle actomyosin ATPase activity.
CC -!- SUBUNIT: Binds to actin and tropomyosin.
CC -!- INTERACTION:
CC P48788; Q9NX04: C1orf109; NbExp=3; IntAct=EBI-7746394, EBI-8643161;
CC P48788; Q9UI47-2: CTNNA3; NbExp=3; IntAct=EBI-7746394, EBI-11962928;
CC P48788; Q8TEB1: DCAF11; NbExp=3; IntAct=EBI-7746394, EBI-2213388;
CC P48788; Q5VUJ9-2: EFCAB2; NbExp=3; IntAct=EBI-7746394, EBI-13317131;
CC P48788; P11474: ESRRA; NbExp=3; IntAct=EBI-7746394, EBI-372412;
CC P48788; P62508-3: ESRRG; NbExp=3; IntAct=EBI-7746394, EBI-12001340;
CC P48788; Q8NEH6: MNS1; NbExp=3; IntAct=EBI-7746394, EBI-743811;
CC P48788; Q9Y5B8: NME7; NbExp=3; IntAct=EBI-7746394, EBI-744782;
CC P48788; P62195: PSMC5; NbExp=3; IntAct=EBI-7746394, EBI-357745;
CC P48788; P13805-3: TNNT1; NbExp=3; IntAct=EBI-7746394, EBI-12151635;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P48788-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P48788-2; Sequence=VSP_046052;
CC -!- DISEASE: Arthrogryposis, distal, 2B1 (DA2B1) [MIM:601680]: A form of
CC distal arthrogryposis, a disease characterized by congenital joint
CC contractures that mainly involve two or more distal parts of the limbs,
CC in the absence of a primary neurological or muscle disease. DA2B is
CC characterized by contractures of the hands and feet, and a distinctive
CC face characterized by prominent nasolabial folds, small mouth and
CC downslanting palpebral fissures. DA2B1 inheritance is autosomal
CC dominant. {ECO:0000269|PubMed:12592607}. Note=The disease is caused by
CC variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the troponin I family. {ECO:0000305}.
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DR EMBL; L21715; AAA19813.1; -; mRNA.
DR EMBL; AJ245761; CAB59981.1; -; Genomic_DNA.
DR EMBL; AC051649; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC032148; AAH32148.1; -; mRNA.
DR EMBL; BI833431; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS31333.1; -. [P48788-1]
DR CCDS; CCDS53594.1; -. [P48788-2]
DR PIR; S43508; TPHUIS.
DR RefSeq; NP_001139301.1; NM_001145829.1. [P48788-1]
DR RefSeq; NP_001139313.1; NM_001145841.1. [P48788-2]
DR RefSeq; NP_003273.1; NM_003282.3. [P48788-1]
DR PDB; 2MKP; NMR; -; I=116-132.
DR PDB; 7KAA; NMR; -; A=99-148.
DR PDBsum; 2MKP; -.
DR PDBsum; 7KAA; -.
DR AlphaFoldDB; P48788; -.
DR BMRB; P48788; -.
DR SMR; P48788; -.
DR BioGRID; 112990; 29.
DR IntAct; P48788; 19.
DR MINT; P48788; -.
DR STRING; 9606.ENSP00000371331; -.
DR ChEMBL; CHEMBL3831282; -.
DR iPTMnet; P48788; -.
DR PhosphoSitePlus; P48788; -.
DR BioMuta; TNNI2; -.
DR DMDM; 1351297; -.
DR MassIVE; P48788; -.
DR PaxDb; P48788; -.
DR PeptideAtlas; P48788; -.
DR PRIDE; P48788; -.
DR ProteomicsDB; 1290; -.
DR ProteomicsDB; 55948; -. [P48788-1]
DR Antibodypedia; 4359; 449 antibodies from 34 providers.
DR DNASU; 7136; -.
DR Ensembl; ENST00000252898.11; ENSP00000252898.7; ENSG00000130598.17. [P48788-1]
DR Ensembl; ENST00000381905.3; ENSP00000371330.3; ENSG00000130598.17. [P48788-2]
DR Ensembl; ENST00000381906.5; ENSP00000371331.1; ENSG00000130598.17. [P48788-1]
DR Ensembl; ENST00000381911.6; ENSP00000371336.1; ENSG00000130598.17. [P48788-1]
DR Ensembl; ENST00000672014.1; ENSP00000500698.1; ENSG00000288219.1. [P48788-1]
DR Ensembl; ENST00000672155.1; ENSP00000500808.1; ENSG00000288219.1. [P48788-2]
DR Ensembl; ENST00000672632.1; ENSP00000500770.1; ENSG00000288219.1. [P48788-1]
DR Ensembl; ENST00000673526.1; ENSP00000500044.1; ENSG00000288219.1. [P48788-1]
DR GeneID; 7136; -.
DR KEGG; hsa:7136; -.
DR MANE-Select; ENST00000381911.6; ENSP00000371336.1; NM_003282.4; NP_003273.1.
DR UCSC; uc010qxe.2; human. [P48788-1]
DR CTD; 7136; -.
DR DisGeNET; 7136; -.
DR GeneCards; TNNI2; -.
DR HGNC; HGNC:11946; TNNI2.
DR HPA; ENSG00000130598; Group enriched (skeletal muscle, tongue).
DR MalaCards; TNNI2; -.
DR MIM; 191043; gene.
DR MIM; 601680; phenotype.
DR neXtProt; NX_P48788; -.
DR OpenTargets; ENSG00000130598; -.
DR Orphanet; 1146; Distal arthrogryposis type 1.
DR Orphanet; 1147; Sheldon-Hall syndrome.
DR PharmGKB; PA36635; -.
DR VEuPathDB; HostDB:ENSG00000130598; -.
DR eggNOG; KOG3977; Eukaryota.
DR GeneTree; ENSGT01030000234588; -.
DR HOGENOM; CLU_098686_1_0_1; -.
DR InParanoid; P48788; -.
DR OMA; KRHRAIT; -.
DR OrthoDB; 1566919at2759; -.
DR PhylomeDB; P48788; -.
DR TreeFam; TF313374; -.
DR PathwayCommons; P48788; -.
DR Reactome; R-HSA-390522; Striated Muscle Contraction.
DR SignaLink; P48788; -.
DR SIGNOR; P48788; -.
DR BioGRID-ORCS; 7136; 8 hits in 1064 CRISPR screens.
DR GeneWiki; TNNI2; -.
DR GenomeRNAi; 7136; -.
DR Pharos; P48788; Tbio.
DR PRO; PR:P48788; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; P48788; protein.
DR Bgee; ENSG00000130598; Expressed in hindlimb stylopod muscle and 93 other tissues.
DR ExpressionAtlas; P48788; baseline and differential.
DR Genevisible; P48788; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0005861; C:troponin complex; IDA:UniProtKB.
DR GO; GO:0003779; F:actin binding; IEA:UniProtKB-KW.
DR GO; GO:0031014; F:troponin T binding; IPI:UniProtKB.
DR GO; GO:0060048; P:cardiac muscle contraction; IBA:GO_Central.
DR GO; GO:0006936; P:muscle contraction; IBA:GO_Central.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:UniProtKB.
DR GO; GO:0006937; P:regulation of muscle contraction; IEA:Ensembl.
DR GO; GO:0003009; P:skeletal muscle contraction; IDA:UniProtKB.
DR DisProt; DP01747; -.
DR Gene3D; 1.20.5.350; -; 1.
DR InterPro; IPR001978; Troponin.
DR InterPro; IPR038077; Troponin_sf.
DR Pfam; PF00992; Troponin; 1.
DR SUPFAM; SSF90250; SSF90250; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Actin-binding; Alternative splicing;
KW Disease variant; Muscle protein; Phosphoprotein; Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000250|UniProtKB:P02643"
FT CHAIN 2..182
FT /note="Troponin I, fast skeletal muscle"
FT /id="PRO_0000186143"
FT REGION 2..48
FT /note="Involved in binding TNC"
FT REGION 97..117
FT /note="Involved in binding TNC and actin"
FT MOD_RES 2
FT /note="N-acetylglycine"
FT /evidence="ECO:0000250|UniProtKB:P02643"
FT MOD_RES 12
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:P02643"
FT MOD_RES 118
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P02643"
FT VAR_SEQ 1..5
FT /note="MGDEE -> MSQCK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_046052"
FT VARIANT 174
FT /note="R -> Q (in DA2B1; dbSNP:rs104894311)"
FT /evidence="ECO:0000269|PubMed:12592607"
FT /id="VAR_016087"
FT STRAND 106..108
FT /evidence="ECO:0007829|PDB:7KAA"
FT HELIX 119..124
FT /evidence="ECO:0007829|PDB:2MKP"
FT TURN 125..127
FT /evidence="ECO:0007829|PDB:2MKP"
SQ SEQUENCE 182 AA; 21339 MW; A204BF5616D748BB CRC64;
MGDEEKRNRA ITARRQHLKS VMLQIAATEL EKEESRREAE KQNYLAEHCP PLHIPGSMSE
VQELCKQLHA KIDAAEEEKY DMEVRVQKTS KELEDMNQKL FDLRGKFKRP PLRRVRMSAD
AMLKALLGSK HKVCMDLRAN LKQVKKEDTE KERDLRDVGD WRKNIEEKSG MEGRKKMFES
ES
