WDR45B

This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif for interaction with phospholipids. The human genome contains several pseudogenes of this gene.

Full Name

WD Repeat Domain 45B

Function

Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:28561066).
Binds phosphatidylinositol 3-phosphate (PtdIns3P), and other phosphoinositides including PtdIns(3,5)P2, forming on membranes of the endoplasmic reticulum upon activation of the upstream ULK1 and PI3 kinases and is recruited at phagophore assembly sites where it regulates the elongation of nascent phagophores downstream of WIPI2 (PubMed:28561066, PubMed:30797857).
In the cellular response to starvation, may also function together with the TSC1-TSC2 complex and RB1CC1 in the inhibition of the mTORC1 signaling pathway (PubMed:28503735).

Biological Process

Biological Process autophagosome assembly Source:UniProtKB1 Publication
Biological Process autophagy of mitochondrion Source:GO_Central1 Publication
Biological Process autophagy of nucleus Source:GO_Central1 Publication
Biological Process cellular response to starvation Source:UniProtKB1 Publication
Biological Process protein lipidation Source:GO_Central1 Publication
Biological Process protein localization to phagophore assembly site Source:GO_Central1 Publication

Cellular Location

Preautophagosomal structure
Lysosome

Involvement in disease

Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures (NEDSBAS):
An autosomal recessive disorder characterized by profound developmental delay, progressive spastic quadriplegia and contractures, early-onset refractory epilepsy in most patients, and brain malformations. Neuroimaging shows ventriculomegaly, reduced cerebral white matter volume, and thinning of cerebral gray matter.