Nuclear Targeting Flashcards
What is step 1?
protein contains Nuclear Localisation Sequence (4-8 basic amino acids in primary sequence, arg/lys)
What is step 2?
protein binds to a carrier protein called importin in cytosol
What is step 3?
fully folded protein translocated into nucleus via nuclear pore (energy dependant)
What is step 4?
protein released, importin binds to ranGTP (small GTPase), this causes a conformational change
What is step 5?
importin exported from nucleus & recycled
What is step 6?
Ran transported back to nucleus following GTP hydrolysis
What is Swyer Syndrome?
Loss or mutation of NLS in sex determining region Y (SRY) protein
• XY genotype, outwardly female
• SRY required for testis differentiation
What is Leri-Weill dyschondrosteosis & Langer mesomelic dysplasia?
mutation in NLS of SHOX transcription factor
Short stature as SHOX required for skeletal
development