InnateDB Protein
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IDBP-78634.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CHM
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Protein Name
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choroideremia (Rab escort protein 1)
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Synonyms
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DXS540; GGTA; HSD-32; REP-1; TCD;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000350386
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InnateDB Gene
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IDBG-78632 (CHM)
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Protein Structure
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Function |
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:0000269PubMed:18532927, ECO:0000269PubMed:7957092}.
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Subcellular Localization |
Cytoplasm, cytosol {ECO:0000269PubMed:7957092}.
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Disease Associations |
Choroideremia (CHM) [MIM:303100]: An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy. {ECO:0000269PubMed:19427510, ECO:0000269PubMed:21905166, ECO:0000269PubMed:7951216}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
10
[view]
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Protein-Protein |
9
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001738
Rab escort (choroideraemia) protein
IPR016664
Rab protein geranylgeranyltransferase component A, eukaryota
IPR018203
GDP dissociation inhibitor
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PFAM |
PF00996
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PRINTS |
PR00893
PR00891
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PIRSF |
PIRSF016550
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P24386
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PhosphoSite |
PhosphoSite-P24386
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TrEMBL |
B4DRL9
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UniProt Splice Variant |
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Entrez Gene |
1121
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UniGene |
Hs.496449
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RefSeq |
NP_000381
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HUGO |
HGNC:1940
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OMIM |
300390
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CCDS |
CCDS14454
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HPRD |
06563
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IMGT |
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EMBL |
AK299323
AL009175
AL022401
AL035451
AL138748
BC130494
BC130496
M83773
S37416
S37417
S37422
S37423
X57637
X78121
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GenPept |
AAA61032
AAD13814
AAI30495
AAI30497
BAG61331
CAA40855
CAA55011
CAI42042
CAI42043
CAI42097
CAI42098
CAI43163
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