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Target intelligence / Profile preview
Respirasome complex assembly factor 1 (RAB5IF)
- Target
- RAB5IF
- Molecular classification
- Other (Component of the multi-pass translocon complex, implicated in mitochondrial respirasome assembly, and protein membrane insertion. Not part of classic receptor, channel, enzyme, or transporter families)
01
Overview
Respirasome complex assembly factor 1 (RAB5IF) is a protein encoded by the RAB5IF gene, located in the mitochondrion and functioning as a subunit of the multi-pass translocon complex. It assists in the insertion of multi-pass membrane proteins into ER membranes, working in coordination with the SEC61 and GEL subcomplexes. RAB5IF also acts as an assembly factor for the mitochondrial respiratory electron transport chain complexes, or "respirasome." Mutations or dysfunction of RAB5IF are associated with complex clinical syndromes involving skeletal, craniofacial, and developmental abnormalities. In summary, RAB5IF is not a classic drug discovery target but holds key roles in protein trafficking and mitochondrial function, with genetic variants linked to rare developmental diseases.
- Other names
- RAB5IFRespirasome complex assembly factor 1RCAF1C20orf24OPTIPNAS-11RIP5CFSMR2GEL complex subunit OPTIRab5-interacting proteinObligate partner of TMCO1 insertaseUncharacterized protein C20orf24
02
Mechanism of action
None known; since no drugs directly target RAB5IF, mechanisms of action are not documented
03
Biological functions
Multi-pass transmembrane protein insertion into ER membrane (via the MPT complex after SEC61 complex activity)Assembly of mitochondrial respiratory complexes ("respirasome")Association with the GEL subcomplex mediating transmembrane insertion
04
Disease associations
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2Scoliosis
05
Safety considerations
None known; no therapeutic interventions target RAB5IF directly, so safety issues are not documented
06
Interacting drugs
None known
07
Biomarkers
None established for patient selection or efficacy monitoring in major indications
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