Aliases for WDR45B Gene
External Ids for WDR45B Gene
Previous HGNC Symbols for WDR45B Gene
Previous GeneCards Identifiers for WDR45B Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for WDR45B Gene
WDR45B (WD Repeat Domain 45B) is a Protein Coding gene. Diseases associated with WDR45B include Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures and Spastic Quadriplegia. Among its related pathways are Autophagy Pathway and Cellular Senescence (REACTOME). Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-3-phosphate binding and phosphatidylinositol-3,5-bisphosphate binding. An important paralog of this gene is WDR45.
UniProtKB/Swiss-Prot for WDR45B Gene
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) 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). 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).