TNNI3K

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TNNI3K
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTNNI3K, CARK, CCDD, TNNI3 interacting kinase
External IDsMGI: 2443276 HomoloGene: 41084 GeneCards: TNNI3K
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for TNNI3K
Genomic location for TNNI3K
Band1p31.1Start74,235,401 bp[1]
End74,544,428 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015978

NM_001012364
NM_177066

RefSeq (protein)

NP_001106279
NP_001186256

NP_796040

Location (UCSC)Chr 1: 74.24 – 74.54 MbChr 3: 154.79 – 155.06 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function[edit]

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[edit]

Mutations in TNNI3K are associated to cardiomyopathies .[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000116783 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040086 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ a b "Entrez Gene: TNNI3 interacting kinase". 
  6. ^ Theis JL, Zimmermann MT, Larsen BT, Rybakova IN, Long PA, Evans JM, Middha S, de Andrade M, Moss RL, Wieben ED, Michels VV, Olson TM (Nov 2014). "TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy". Human Molecular Genetics. 23 (21): 5793–804. doi:10.1093/hmg/ddu297. PMC 4189907Freely accessible. PMID 24925317. 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.