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0RAE2_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameCHML
DescriptionRab proteins geranylgeranyltransferase component a 2 (rab escort protein 2) (rep-2) (choroideraemia-like protein).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0007601 visual perception (TAS)
Domain Architecture (Details)
InterPro domains assigned to SynO:
Rab proteins constitute a family of small GTPases that serve a regulatoryrole in vesicular membrane traffic . C-terminal geranylgeranylation iscrucial for their membrane association and function. This post-translationalmodification is catalysed by Rab geranylgeranyl transferase (Rab-GGTase). multi-subunit enzyme that contains a catalytic heterodimer and an accessorycomponent.ermed Rab escort protein (REP)-1 . REP-1 presents newly-synthesised Rab proteins to the catalytic component.nd forms a stablecomplex with the prenylated proteins following the transfer reaction. The mechanism of REP-1-mediated membrane association of Rab5 is similarto that mediated by Rab GDP dissociation inhibitor (GDI). REP-1 and Rab GDI also share other functional properties.ncluding the ability to inhibit therelease of GDP and to remove Rab proteins from membranes.The crystal structure of the bovine alpha-isoform of Rab GDI has beendetermined to a resolution of 1.81A . The protein is composed of twomain structural units: a large complex multi-sheet domain I.nd a smalleralpha-helical domain II.The structural organisation of domain I is closely related to FAD-containingmonooxygenases and oxidases . Conserved regions common to GDI and thechoroideraemia gene product.hich delivers Rab to catalytic subunits ofRab geranylgeranyltransferase II.re clustered on one face of the domain. The two most conserved regions form a compact structure at the apex ofthe molecule; site-directed mutagenesis has shown these regions to play acritical role in the binding of Rab proteins .
  IPR002005:Rab GTPase activator
InterPro domains unassigned to SynO:
Rab proteins constitute a family of small GTPases that serve a regulatory role in vesicular membrane traffic . C-terminal geranylgeranylation is crucial for their membrane association and function. This post-translational modification is catalysed by Rab geranylgeranyl transferase (Rab-GGTase). multi-subunit enzyme that contains a catalytic heterodimer and an accessory component.ermed Rab escort protein (REP)-1 . REP-1 presents newly-synthesised Rab proteins to the catalytic component.nd forms a stable complex with the prenylated proteins following the transfer reaction.cDNA cloning of component A of rat Rab geranylgeranyl transferase (REP) confirms its resemblance to Rab3A guanine nucleotide dissociation inhibitor (GDI) and its identity with the human choroideremia gene product . A genetic defect in REP underlies human choroideremia. Choroideraemia (or tapetochoroidal dystrophy) is a common form of X-linked blindness characterised by progressive dystrophy of the choroid.etinal pigment epithelium and retina .
  IPR001738:Rab escort (choroideraemia) protein
IPR002005:GDI 
Evalue:-20.5228786468506 
Location:5-614
SequencesProtein: RAE2_HUMAN (656 aa)
mRNA: NM_001821
Local Annotation
Synapse Ontology
Fusion of intracellular membrane-bound vesicles with the pre-synaptic membrane of the neuronal cell resulting in release of neurotransmitter into the synaptic cleft.
sdb:0049 synaptic vesicle fusion  (Evidence:domains)
Penetrating at least one phospholipid bilayer of a synaptic vesicle membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer.
sdb:0078 integral to synaptic vesicle membrane proteins  (Evidence:domains)
proteins that help to traffick the vesicle, such as synaptobrevin/Vamp, synaptotagmin, Rab3-rabphilin complex.
sdb:0097 vesicle trafficking protein  (Evidence:domains)
clathrin-coat uncoating means clathrin was shed from the budding vesicle membrane.
sdb:0122 clathrin-coat uncoating  (Evidence:domains)
attachment of the vesicle filled with transmitters involves a specific interaction between the vesicle membrane and the presynaptic active zone.
sdb:0148 docking  (Evidence:domains)
KO assignmentNot mapped to KEGG
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 514 residues, 239823075-239824616Exon2: 86 residues, 239827670-239827922Exon3: 108 residues, 239834184-239834504Exon4: 174 residues, 239869806-239870324Exon5: 2 residues, -Jump to OPN3_HUMANExon1: 2357 residues, 239858785-239865855Exon2: 2 residues, -Jump to RAE2_HUMAN  
Tune and view alternative isoforms
Loci Cluster (Details)Loci: 3873 239823075-239870324 ~-47K 4227(OPN3)(-)Loci: 3872 239727527-239749677 ~-22K 4224(FH)(-)Link out to UCSC