TNNI3K

TNNI3 interacting kinase is a protein that in humans is encoded by the TNNI3K gene.^[5]

TNNI3K
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4YFI, 4YFF
Identifiers
Aliases	TNNI3K, CARK, CCDD, TNNI3 interacting kinase
External IDs	OMIM: 613932; MGI: 2443276; HomoloGene: 41084; GeneCards: TNNI3K; OMA:TNNI3K - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p31.1 Start 74,235,387 bp[1] End 74,544,428 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 H4 Start 154,491,928 bp[2] End 154,761,044 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in apex of heart left ventricle right auricle of heart gonad cerebellar hemisphere right hemisphere of cerebellum testicle primary visual cortex Brodmann area 9 right frontal lobe Top expressed in myocardium of ventricle atrium lumbar spinal ganglion atrioventricular valve endocardial cushion left ventricle olfactory epithelium semi-lunar valve aortic valve esophagus More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity protein kinase activity protein serine/threonine kinase activity nucleotide binding protein C-terminus binding protein binding troponin I binding ATP binding metal ion binding kinase activity signal transducer activity Cellular component cytoplasm nucleus Biological process protein phosphorylation regulation of cardiac muscle contraction regulation of cardiac conduction bundle of His cell to Purkinje myocyte communication phosphorylation regulation of heart rate intracellular signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51086 435766 Ensembl ENSG00000116783 ENSMUSG00000040086 UniProt Q59H18 Q5GIG6 RefSeq (mRNA) NM_015978 NM_001012364 NM_177066 RefSeq (protein) NP_001106279 NP_001186256 NP_057062 NP_796040 Location (UCSC) Chr 1: 74.24 – 74.54 Mb Chr 3: 154.49 – 154.76 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology.^[5]

Clinical significance

Mutations in TNNI3K are associated to cardiomyopathies.^[6]