UHMK1

Chr 1

U2AF homology motif kinase 1

Also known as: KIS, KIST, P-CIP2

NCBI Gene: 127933 ENSG00000152332 UniProt: Q8TAS1 OMIM: 608849

The protein is a serine/threonine kinase that phosphorylates the cyclin-dependent kinase inhibitor p27Kip1 to promote cell cycle progression through G1 phase and may function in RNA trafficking and processing. Mutations cause autosomal recessive intellectual disability with seizures and microcephaly, typically presenting in infancy or early childhood. The gene is highly constrained against loss-of-function variants, indicating that complete protein loss is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

The gene encodes a serine/threonine protein kinase that promotes cell cycle progression through G1 by phosphorylation of the cyclin-dependent kinase inhibitor 1B (p27Kip1), which causes nuclear export and degradation. The encoded protein is also thought to function in the adult nervous system and the gene has been associated with schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

OMIM ResearchGenerating clinical summary…

LOEUF 0.41

Clinical Summary— UHMK1

⚡

Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.83) — some intolerance to loss-of-function variants.

Explore recent and relevant literature in Research Assistant →