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CDK13

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.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.

Tissue Specificity

Expressed in fetal brain, liver, muscle and in adult brain. Also expressed in neuroblastoma and glioblastoma tumors.

Cellular localization

Alternative names

CDC2L, CDC2L5, CHED, KIAA1791, CDK13, Cyclin-dependent kinase 13, CDC2-related protein kinase 5, Cell division cycle 2-like protein kinase 5, Cell division protein kinase 13, Cholinesterase-related cell division controller, hCDK13

swissprot:Q14004 omim:603544 omim:603309 swissprot:O75909 entrezGene:8812 entrezGene:8621