Tbio CHM Rab proteins geranylgeranyltransferase component A 1

Protein Summary

Description

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. 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 Accession IDs

• P24386
• A1L4D2
• O43732

Gene Name

• CHM

Ensembl ID

• ENST00000357749
• ENSP00000350386
• ENSG00000188419
• ENST00000615443
• ENSP00000484306

Symbol

• REP1
• TCD
• TCD
• GGTA
• REP-1
• DXS540
• HSD-32

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
histone modification site profile	0.88
molecular function	0.73
small molecule perturbation	0.73
microRNA	0.65
tissue sample	0.64

Protein Classes

PANTHER Classes

Protein / Transferase / Acyltransferase / Rab Proteins Geranylgeranyltransferase Component A 1

Protein / Enzyme Modulator / G-protein Modulator / Rab Proteins Geranylgeranyltransferase Component A 1

DTO Classes

Protein / Enzyme / Transferase / Acyltransferase / Rab Proteins Geranylgeranyltransferase Component A 1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 579.24   (req: < 5)

Gene RIFs: 64   (req: <= 3)

Antibodies: 154   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 579.24   (req: >= 5)

Gene RIFs: 64   (req: > 3)

Antibodies: 154   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0