Defective NPC does not transport GCK1:GKRP from cytosol to nucleoplasm

Stable Identifier
R-HSA-5661474
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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The nuclear pore complex (NPC) trafficks cargo across the nuclear membrane. Nucleoprotein TPR functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and mRNAs. The complex glucokinase (GCK1) and glucokinase regulatory protein (GKRP) can be translocated to the nucleus via the NPC. Defects in TPR may confer susceptibility towards thyroid papillary carcinona (TPC; MIM:18850), a common tumor of the thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Mutations in TPR that can confer susceptibility to TPC are L458P and M489P (Hase et al. 2001, Hase & Cordes 2003).

Literature References
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
structural constituent of nuclear pore activity of Defective NPC [nuclear envelope]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
papillary carcinoma 3113 Papillary carcinoma (morphologic abnormality), Papillary carcinoma, Papillary carcinoma NOS (morphologic abnormality)
Authored
Reviewed
Created
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