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Details on Person UniProt:P24386 CHM
| Class:Id | ReferenceGeneProduct:62668 |
|---|---|
| _chainChangeLog | chain:1-653 added on Fri February 6 2015 |
| _displayName | UniProt:P24386 CHM |
| _timestamp | 2025-05-21 21:20:43 |
| chain | chain:1-653 |
| checksum | 7CFFAECE7BA1F3AF |
| comment | 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.SUBUNIT Monomer (By similarity). 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 (PubMed:21905166). 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:RGGT:Rab complex is destabilized by GGpp (PubMed:18532927). Interacts with RAB1A, RAB1B, RAB5A, RAB7A and RAB27A and mediates their prenylation (PubMed:7957092). Interacts with the non-phosphorylated forms of RAB3A, RAB3B, RAB3C, RAB3D, RAB5B, RAB5C, RAB8A, RAB8B, RAB10, RAB12, RAB35, and RAB43 (PubMed:26824392, PubMed:29125462).INTERACTION The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the Rab GDI family.ONLINE INFORMATION Leiden Open Variation Database (LOVD)ONLINE INFORMATION Leiden Open Variation Database (LOVD) |
| description | recommendedName: Rab proteins geranylgeranyltransferase component A 1 alternativeName: Choroideremia protein alternativeName: Rab escort protein 1 shortName: REP-1 alternativeName: TCD protein |
| geneName | CHM REP1 TCD |
| identifier | P24386 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Cytoplasm Disease variant GTPase activation Proteomics identification Reference proteome Sensory transduction Vision |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9948485] Weiser, Joel, 2025-05-21 |
| name | CHM |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8997381] ENSEMBL:ENSG00000188419 CHM [Homo sapiens] |
| secondaryIdentifier | RAE1_HUMAN A1L4D2 O43732 |
| sequenceLength | 653 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:8978000] UniProt:P24386-1 CHM [Homo sapiens] [ReferenceIsoform:8978001] UniProt:P24386-2 CHM [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:6801097] CHM [cytosol] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:P24386 CHM (62668)
