UHMK1: U2AF Homology Motif Kinase 1
A serine/threonine kinase involved in RNA splicing and cell cycle regulation
Gene Information Card
| Symbol | UHMK1 |
|---|---|
| Full Name | U2AF Homology Motif (UHM) Kinase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 127933 ncbi.nlm.nih.gov/gene/127933 |
| Ensembl ID | ENSG00000143106 |
| UniProt ID | Q8TAS1 |
| OMIM ID | 609994 |
| HGNC ID | 12521 |
| Aliases | KIS, P-CIP2, STK33 |
Description
UHMK1 (U2AF Homology Motif Kinase 1) encodes a serine/threonine kinase that contains a U2AF homology motif (UHM) domain. The protein phosphorylates and regulates RNA splicing factors, including SF1 and U2AF65, and plays a role in cell cycle progression, particularly at the G2/M transition. UHMK1 is expressed in multiple tissues and is implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | UHMK1 overexpression promotes cell proliferation and migration; altered splicing of oncogenes | COSMIC; literature |
| Neurodevelopmental disorders | UHMK1 variants may affect synaptic function and RNA processing | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 8.1 | Low |
| Liver | 6.3 | Low |
| Kidney | 7.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 11.8 | Medium expression |
| A549 | 9.5 | Medium expression |
| K562 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown functional effect |
| c.1234G>A (p.Glu412Lys) | Missense | <0.01% | Potential loss of kinase activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the kinase domain may reduce catalytic activity.
Gain of Function (GOF)
Not well characterized; overexpression in tumors suggests possible gain-of-function.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity (GO:0004674) | • ATP binding (GO:0005524) |
| • mRNA processing (GO:0006397) | • RNA splicing (GO:0008380) |
| • cell cycle (GO:0007049) | • nucleus (GO:0005634) |
Pathways
• Alternative splicing regulation
• Cell cycle G2/M transition
Protein Summary
UHMK1 is a 434-amino acid serine/threonine kinase with an N-terminal kinase domain and a C-terminal U2AF homology motif. It interacts with splicing factors SF1 and U2AF65, modulating pre-mRNA splicing. The protein is predominantly nuclear and is involved in cell cycle control, particularly at the G2/M checkpoint. UHMK1 expression is elevated in several cancers and may serve as a prognostic marker.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UHMK1 Knockout HEK293 Cell Line | EDJ-KQ2372 | Human | 127933 | Details Get a Quote |
| UHMK1 Knockout A-549 Cell Line | EDJ-KQ22832 | Human | 127933 | Details Get a Quote |
| UHMK1 Knockout HCT 116 Cell Line | EDJ-KQ22833 | Human | 127933 | Details Get a Quote |
| UHMK1 Knockout HeLa Cell Line | EDJ-KQ22834 | Human | 127933 | Details Get a Quote |
