Entrez Summary: This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016].
UniProt Summary: Substrate-binding subunit of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B composed of RABGGTA and RABGGTB, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Besides, a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B) can bind to and prenylate Rab proteins; this alternative pathway is proposed to be the predominant pathway for Rab protein geranylgeranylation. {ECO:0000269|PubMed:18532927, ECO:0000269|PubMed:7957092}.
Pfam DomainsGO Terms
Pfam Domains
GDI
GO Terms
Rab geranylgeranyltransferase activity
Rab-protein geranylgeranyltransferase complex
protein geranylgeranylation
prenylation
protein prenylation
GDP-dissociation inhibitor activity
Rab GTPase binding
protein targeting to membrane
visual perception
sensory perception of light stimulus
establishment of protein localization to membrane
GTPase activator activity
small GTPase mediated signal transduction
protein targeting
post-translational protein modification
positive regulation of GTPase activity
protein localization to membrane
regulation of GTPase activity
positive regulation of hydrolase activity
sensory perception
intracellular protein transport
regulation of hydrolase activity
nervous system process
positive regulation of catalytic activity
protein transport
intracellular transport
peptide transport
regulation of apoptotic process
regulation of programmed cell death
amide transport
cellular protein localization
cellular macromolecule localization
establishment of protein localization
regulation of cell death
intracellular signal transduction
positive regulation of molecular function
establishment of localization in cell
nitrogen compound transport
vesicle-mediated transport
system process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
No hits were found.
Most Correlated Genes in Chemogenomics
No correlation found to any other genes in chemogenomics.
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 3/694