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.

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 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
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