Entity Details

Primary name ALPK3
Entity type gene
Source Source Link

Details

PrimaryID57538
RefseqGeneNG_054748
SymbolALPK3
Namealpha kinase 3
Chromosome15
Location15q25.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsALPK3_HUMAN

GO terms

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GOName
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0007507 heart development
GO:0055013 cardiac muscle cell development
GO:0106310 protein serine kinase activity
GO:0106311 protein threonine kinase activity

Diseases

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Disease IDSourceNameDescription
618052 OMIMCardiomyopathy, familial hypertrophic 27 (CMH27)A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH27 is a severe, early-onset form with features of hypertrophic and dilated cardiomyopathy. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions

InteractorPartnerSourcesPublicationsLink
ALPK3MYCIntAct21150319 details
ALPK3PSMD1BioGRID, IntAct30021884 details
ALPK3HNRNPA1BioGRID, IntAct30021884 details
ALPK3HMGN2BioGRID, IntAct30021884 details
ALPK3H1-0BioGRID, IntAct30021884 details
ALPK3RPS11BioGRID, IntAct30021884 details
ALPK3SRPRBBioGRID, IntAct30021884 details