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Description for Protein CHM

choroideremia (Rab escort protein 1)
13 total interacting proteins; 13 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
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. Alternative splicing results in multiple transcript variants encoding different isoforms. (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
None Available
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
Rab escort protein 1; REP1; Rab proteins geranylgeranyltransferase component A 1; RAB GG transferase; GGTA; Choroideraemia protein; TCD protein; RAB geranylgeranyl transferase, component A; DXS540; HSD-32; FLJ38564; MGC102710; Choroideremia isoform a
Approved Symbol:
CHM
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 6
Human (de-) phosphorylation sites: 6; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • FARNESYL(db)

    Associated Genetic Diseases:

  • Choroideremia(Pd);
  • Choroideremia, Salla type(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02312 Entrez Gene ID: 1121 OMIM ID: 300390 Swissprot Accession: P24386; A1L4D2;