TNNI3

TNNI3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTNNI3, CMD1FF, CMD2A, CMH7, RCM1, TNNC1, cTnI, troponin I3, cardiac type
External IDsOMIM: 191044; MGI: 98783; HomoloGene: 309; GeneCards: TNNI3; OMA:TNNI3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000363

NM_009406

RefSeq (protein)

NP_000354
NP_000354.4

NP_033432

Location (UCSC)Chr 19: 55.15 – 55.16 MbChr 7: 4.52 – 4.53 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Troponin I, cardiac muscle is a protein that in humans is encoded by the TNNI3 gene.[5][6] It is a tissue-specific subtype of troponin I, which in turn is a part of the troponin complex.

The TNNI3 gene encoding cardiac troponin I (cTnI) is located at 19q13.4 in the human chromosomal genome. Human cTnI is a 24 kDa protein consisting of 210 amino acids with isoelectric point (pI) of 9.87. cTnI is exclusively expressed in adult cardiac muscle.[7][8]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000129991Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035458Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Mogensen J, Kruse TA, Børglum AD (Jun 1998). "Assignment of the human cardiac troponin I gene (TNNI3) to chromosome 19q13.4 by radiation hybrid mapping". Cytogenetics and Cell Genetics. 79 (3–4): 272–3. doi:10.1159/000134740. PMID 9605869.
  6. ^ Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, Hiroi S, Sasaoka T, Ohbuchi N, Nakamura T, Koyanagi T, Hwang TH, Choo JA, Chung KS, Hasegawa A, Nagai R, Okazaki O, Nakamura H, Matsuzaki M, Sakamoto T, Toshima H, Koga Y, Imaizumi T, Sasazuki T (Aug 1997). "Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy". Nature Genetics. 16 (4): 379–82. doi:10.1038/ng0897-379. PMID 9241277. S2CID 31578767.
  7. ^ Bodor GS, Porterfield D, Voss EM, Smith S, Apple FS (Dec 1995). "Cardiac troponin-I is not expressed in fetal and healthy or diseased adult human skeletal muscle tissue". Clinical Chemistry. 41 (12 Pt 1): 1710–5. doi:10.1093/clinchem/41.12.1710. PMID 7497610.
  8. ^ Jin JP, Zhang Z, Bautista JA (2008). "Isoform diversity, regulation, and functional adaptation of troponin and calponin". Critical Reviews in Eukaryotic Gene Expression. 18 (2): 93–124. doi:10.1615/critreveukargeneexpr.v18.i2.10. PMID 18304026.