LMPD Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
LMP002872

UniProt Annotations

Entry Information
Gene Namechoroideremia (Rab escort protein 1)
Protein EntryRAE1_HUMAN
UniProt IDP24386
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P24386-1; Sequence=Displayed; Name=2; IsoId=P24386-2; Sequence=VSP_042817, VSP_042818; Note=No experimental confirmation available.;
DiseaseChoroideremia (CHM) [MIM
FunctionSubstrate-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.
SimilarityBelongs to the Rab GDI family.
Subcellular LocationCytoplasm, cytosol .
SubunitMonomer. Heterotrimer composed of RABGGTA, RABGGTB and CHM; within this trimer, RABGGTA and RABGGTB form the catalytic component B, while CHM (component A) mediates Rab protein binding. Can associate with the Rab GGTase dimer (RGGT or component B) prior to Rab protein binding; the association is stabilized by geranylgeranyl pyrophosphate (GGpp). The CHM
Web ResourceName=Mutations of the REP1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/repmut.htm";
Web ResourceName=NGRL, Manchester LOVD choroideremia (Rab escort protein 1) (CHM); Note=Leiden Open Variation Database (LOVD); URL="http://ngrl.manchester.ac.uk/LOVDv.2.0/home.php?select_db=CHM";
Web ResourceName=Retinal and hearing impairment genetic mutation database choroideremia (Rab escort protein 1) (CHM); Note=Leiden Open Variation Database (LOVD); URL="http://grenada.lumc.nl/LOVD2/Usher_montpellier/home.php?select_db=CHM";