Entrez Summary: This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2010].
UniProt Summary: Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor. {ECO:0000269|PubMed:20154675}.
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
negative regulation of TOR signaling
endosome organization
regulation of TOR signaling
Rab GTPase binding
early endosome
vesicle organization
endomembrane system organization
negative regulation of intracellular signal transduction
negative regulation of cell population proliferation
molecular function
negative regulation of signal transduction
negative regulation of cell communication
negative regulation of signaling
regulation of cell population proliferation
negative regulation of response to stimulus
regulation of intracellular signal transduction
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)