Entrez Summary: This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq, Jul 2008].
UniProt Summary: Plays an important role in the autophagy pathway, which is the major intracellular degradation system by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation. {ECO:0000269|PubMed:23435086}.
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
phosphatidylinositol phosphate binding
protein localization to phagophore assembly site
phagophore assembly site membrane
phagophore assembly site
phosphatidylinositol-3,5-bisphosphate binding
autophagy of mitochondrion
mitochondrion disassembly
phosphatidylinositol-3-phosphate binding
autophagosome assembly
organelle disassembly
extrinsic component of membrane
autophagosome organization
protein lipidation
lipoprotein biosynthetic process
lipoprotein metabolic process
vacuole organization
cellular response to starvation
macroautophagy
response to starvation
cellular response to nutrient levels
autophagy
process utilizing autophagic mechanism
cellular response to extracellular stimulus
cellular response to external stimulus
cellular component disassembly
mitochondrion organization
protein kinase binding
response to nutrient levels
response to extracellular stimulus
organelle assembly
organonitrogen compound biosynthetic process
cellular protein localization
cellular macromolecule localization
cellular response to stress
cellular macromolecule biosynthetic process
macromolecule biosynthetic process
cellular catabolic process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)