ENSG00000116783


Homo sapiens

Features
Gene ID: ENSG00000116783
  
Biological name :TNNI3K
  
Synonyms : Q59H18 / TNNI3 interacting kinase / TNNI3K
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p31.1
Gene start: 74235401
Gene end: 74544428
  
Corresponding Affymetrix probe sets: 220415_at (Human Genome U133 Plus 2.0 Array)   241858_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000322251
Ensembl peptide - ENSP00000433550
Ensembl peptide - ENSP00000434975
Ensembl peptide - ENSP00000431465
NCBI entrez gene - 51086     See in Manteia.
OMIM - 613932
RefSeq - NM_015978
RefSeq Peptide - NP_057062
swissprot - Q59H18
swissprot - H0YCE9
swissprot - H0YDG1
swissprot - H0YE48
Ensembl - ENSG00000116783
  
Related genetic diseases (OMIM): 616117 - ?Cardiac conduction disease with or without dilated cardiomyopathy, 616117
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tnni3kENSDARG00000086933Danio rerio
 TNNI3KENSGALG00000011353Gallus gallus
 Q5GIG6ENSMUSG00000040086Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FPGT-TNNI3K / FPGT-TNNI3K readthroughENSG0000025903099
Q02779 / MAP3K10 / mitogen-activated protein kinase kinase kinase 10ENSG0000013075818
MAP3K9 / P80192 / mitogen-activated protein kinase kinase kinase 9ENSG0000000643218
O43283 / MAP3K13 / mitogen-activated protein kinase kinase kinase 13ENSG0000007380316
Q16584 / MAP3K11 / mitogen-activated protein kinase kinase kinase 11ENSG0000017332716
Q5TCX8 / MAP3K21 / mitogen-activated protein kinase kinase kinase 21ENSG0000014367416
Q12852 / MAP3K12 / mitogen-activated protein kinase kinase kinase 12ENSG0000013962514
ILK / Q13418 / integrin linked kinaseENSG0000016633314
Q9NYL2 / MAP3K20 / mitogen-activated protein kinase kinase kinase 20ENSG0000009143613
MAP3K7 / O43318 / mitogen-activated protein kinase kinase kinase 7ENSG0000013534113
MOS / P00540 / MOS proto-oncogene, serine/threonine kinaseENSG000001726809


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR002110  Ankyrin repeat
 IPR011009  Protein kinase-like domain superfamily
 IPR017441  Protein kinase, ATP binding site
 IPR020683  Ankyrin repeat-containing domain
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002027 regulation of heart rate IMP
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0035556 intracellular signal transduction IBA
 biological_processGO:0055117 regulation of cardiac muscle contraction IMP
 biological_processGO:0086069 bundle of His cell to Purkinje myocyte communication IMP
 biological_processGO:1903779 regulation of cardiac conduction IGI
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity IEA
 molecular_functionGO:0004871 obsolete signal transducer activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008022 protein C-terminus binding IPI
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0031013 troponin I binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001635 Congestive heart failure "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators]
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 HP:0001644 Dilated cardiomyopathy 
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 HP:0001692 Atrial arrhythmias 
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 HP:0004749 Atrial fibrillation or flutter 
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 HP:0005110 Atrial fibrillation 
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 HP:0011711 Left anterior fascicular block "Conduction block in the anterior division of the left bundle branch of the bundle of His." [DDD:dbrown]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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