KLHL20
Description
The KLHL20 (kelch like family member 20) is a protein-coding gene located on chromosome 1.
Kelch-like protein 20 is a protein that in humans is encoded by the KLHL20 gene. The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities.
KLHL20 acts as a substrate-specific adapter within the BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex, playing a role in interferon response and anterograde Golgi to endosome transport. This complex mediates ubiquitination of DAPK1, leading to its proteasomal degradation and acting as a negative regulator of apoptosis. It specifically mediates 'Lys-33'-linked ubiquitination and is involved in anterograde Golgi to endosome transport by ubiquitinating CORO7, promoting its interaction with EPS15 and facilitating actin polymerization and post-Golgi trafficking. KLHL20 also regulates endothelial migration during angiogenesis by controlling Rho GTPase activation, acts as a regulator of neurite outgrowth by mediating PDZ-RhoGEF/ARHGEF11 ubiquitination and degradation, and is involved in tumor hypoxia by mediating PML ubiquitination and degradation, potentiating HIF-1 signaling and cancer progression.
KLHL20 is also known as KHLHX, KLEIP, KLHLX.
Associated Diseases
- prostate cancer
- retinitis pigmentosa
- X-linked endothelial corneal dystrophy
- macular corneal dystrophy
- granular corneal dystrophy type I
- autosomal dominant keratitis
