TNNI3K - TNNI3 interacting kinase Gene

Also Known as CARK; CCDD

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51086

About TNNI3K

Cytogenetic location: 1p31.1 Genomic coordinates (GRCh38): 1:74,235,387-74,544,428 (from NCBI)

This gene has 8 transcripts (splice variants), 189 orthologues, 23 paralogues and is associated with 2 phenotypes. Biased expression in heart (RPKM 19.3), testis (RPKM 1.3) and 1 other tissue.

Summary

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. [provided by RefSeq, Sep 2012]

TNNI3K Products (1)

mRNA Protein Name
NM_015978.3 NP_057062.1 serine/threonine-protein kinase TNNI3K
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
12721663 GOA
enables protein kinase activity IDA
IDA: Inferred from direct assay
12721663 GOA
Biological Process GO Annotation Evidence References Source
involved in bundle of His cell to Purkinje myocyte communication IMP
IMP: Inferred from mutant phenotype
23236294 GOA
involved in protein phosphorylation IDA
IDA: Inferred from direct assay
12721663 GOA
involved in regulation of cardiac conduction IGI
IGI: Inferred from genetic interaction
23236294 GOA
involved in regulation of cardiac muscle contraction IMP
IMP: Inferred from mutant phenotype
24925317 GOA
involved in regulation of heart rate IGI
IGI: Inferred from genetic interaction
23236294 GOA
involved in regulation of heart rate IMP
IMP: Inferred from mutant phenotype
24925317 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
12721663 GOA
located in nucleus IDA
IDA: Inferred from direct assay
12721663 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TNNI3K Protein Structure

Ank_2

Ank_2: Ankyrin repeats (3 copies) (105 - 195)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (204 - 291)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (310 - 404)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (463 - 719)

  • 0
  • 200
  • 400
  • 600
  • 835 a.a.
Protein Preferred Names Protein Names

serine/threonine-protein kinase TNNI3K

  • cardiac ankyrin repeat kinase

Related Diseases

Diseases Alias
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
  • CCDD

  • Familial Atrial Tachyarrhythmia-Infra-Hisian Cardiac Conduction Disease

  • Cardiac Conduction Disease With/Without Dilated Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
  • Arrhythmogenic Right Ventricular Dysplasia 2

  • ARVD2

  • Arrhythmogenic Right Ventricular Cardiomyopathy 2

  • Arvc2

  • Familial Arrhythmogenic Right Ventricular Dysplasia 2

  • Dysplasia, Arrhythmogenic Right Ventricular, Type 2

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

Restrictive Cardiomyopathy
  • Familial Restrictive Cardiomyopathy

  • Cardiomyopathy, Restrictive

  • Cardiomyopathy, Constrictive

  • Primary Restrictive Cardiomyopathy

  • Rcm

  • Cardiomyopathy Restrictive

Familial Atrial Fibrillation
  • Atrial Fibrillation, Familial

  • Atfb

  • Atrial Fibrillation Autosomal Dominant

  • Autosomal Dominant Atrial Fibrillation

  • Auricular Fibrillation

  • Atrial Fibrillation

  • Atrial Fibrillation, Familial, 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus TNNI3K RGD RGD:727908
Mus musculus TNNI3K MGD MGI:2443276
Others TNNI3K NCBI