CDK13

CDK13 (Cyclin Dependent Kinase 13) is a Protein Coding gene. Diseases associated with CDK13 include Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder and Corneal Endothelial Dystrophy. Among its related pathways are Innate Immune System and Gene Expression. Gene Ontology (GO) annotations related to this gene include protein kinase activity. An important paralog of this gene is CDK12.

Full Name

Cyclin Dependent Kinase 13

Function

Cyclin-dependent kinase which displays CTD kinase activity and is required for RNA splicing. Has CTD kinase activity by hyperphosphorylating the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit RPB1, thereby acting as a key regulator of transcription elongation. Required for RNA splicing, probably by phosphorylating SRSF1/SF2. Required during hematopoiesis. In case of infection by HIV-1 virus, interacts with HIV-1 Tat protein acetylated at 'Lys-50' and 'Lys-51', thereby increasing HIV-1 mRNA splicing and promoting the production of the doubly spliced HIV-1 protein Nef.

Biological Process

Alternative mRNA splicing, via spliceosome Source: UniProtKB
Hemopoiesis Source: UniProtKB
Multicellular organism development Source: ProtInc
Negative regulation of stem cell differentiation Source: Ensembl
Neutrophil degranulation Source: Reactome
Phosphorylation of RNA polymerase II C-terminal domain Source: UniProtKB
Positive regulation of cell population proliferation Source: ProtInc
Positive regulation of transcription elongation from RNA polymerase II promoter Source: GO_Central
Protein phosphorylation Source: GO_Central
Regulation of mitotic nuclear division Source: ProtInc
Transcription elongation from RNA polymerase II promoter Source: GO_Central
Viral process Source: UniProtKB-KW

Cellular Location

Nucleus speckle

Involvement in disease

Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD): An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects, facial dysmorphism with hypertelorism, upslanted palpebral fissures, epicanthal folds, ptosis, strabismus, posteriorly rotated ears, thin upper lip, and small mouth. Patients manifest global developmental delay, delayed walking and speech acquisition, and intellectual disability. Some patients have mild microcephaly, a small cerebral cortex, and agenesis of corpus callosum. More variable features include clinodactyly and/or camptodactyly of the fingers, hypotonia, and joint hypermobility.