ULK3 Gene - Unc-51 Like Kinase 3
A serine/threonine kinase involved in autophagy and hedgehog signaling
Gene Information Card
| Symbol | ULK3 |
|---|---|
| Full Name | unc-51 like kinase 3 |
| Gene Type | protein coding |
| Chromosomal Location | 15q24.1 |
| NCBI Gene ID | 25989 ncbi.nlm.nih.gov/gene/25989 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q6PHR2 |
| OMIM ID | 613472 |
| HGNC ID | 19703 |
| Aliases | FLJ90586, UNC-51-like kinase 3 |
Description
ULK3 (unc-51 like kinase 3) is a serine/threonine protein kinase that belongs to the ULK family. It plays a critical role in autophagy initiation and negatively regulates the hedgehog signaling pathway by phosphorylating and promoting the degradation of GLI transcription factors. ULK3 is also involved in ciliogenesis and cell cycle regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | ULK3 mutations and altered expression may affect autophagy and hedgehog signaling, contributing to tumorigenesis | COSMIC |
| Hedgehog pathway-related disorders | ULK3 negatively regulates GLI transcription factors; dysregulation can lead to aberrant hedgehog signaling | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.8 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.2 | Low |
| Liver | 5.1 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| HeLa | 8.7 | Cervical cancer cells |
| A549 | 7.1 | Lung cancer cells |
| MCF7 | 6.5 | Breast cancer cells |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | Rare | Unknown functional effect |
| c.1456G>A (p.Glu486Lys) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Autophagy - animal
• Hedgehog signaling pathway
Protein Summary
ULK3 is a 491-amino acid serine/threonine kinase with an N-terminal kinase domain. It localizes to the cytoplasm and nucleus. The protein is involved in autophagy by phosphorylating Beclin-1 and in hedgehog signaling by phosphorylating GLI2/GLI3, leading to their proteasomal degradation. ULK3 also regulates cilia disassembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ULK3 Knockout HEK293 Cell Line | EDJ-KQ1994 | Human | 25989 | Details Get a Quote |
| ULK3 Knockout A-549 Cell Line | EDJ-KQ21996 | Human | 25989 | Details Get a Quote |
| ULK3 Knockout HeLa Cell Line | EDJ-KQ21997 | Human | 25989 | Details Get a Quote |
| ULK3 Knockout HCT 116 Cell Line | EDJ-KQ20697 | Human | 25989 | Details Get a Quote |