6s5f
From Proteopedia
Structure of the human RAB39B in complex with GMPPNP
Structural highlights
DiseaseRB39B_HUMAN NON RARE IN EUROPE: Autism;Early-onset parkinsonism-intellectual disability syndrome;X-linked non-syndromic intellectual disability. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. Its association with Parkinson disease is however unclear (PubMed:26739247, PubMed:27459931). According to a number of studies, variations affecting this gene are not a frequent cause of Parkinson disease, suggesting that RAB39B does not play a major role in Parkinson disease etiology (PubMed:26739247, PubMed:27459931).[1] [2] FunctionRB39B_HUMAN Small GTPases Rab involved in autophagy (PubMed:27103069). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:27103069). May regulate the homeostasis of SNCA/alpha-synuclein. Together with PICK1 proposed to ensure selectively GRIA2 exit from the endoplasmic reticulum to the Golgi and to regulate AMPAR compostion at the post-synapses and thus synaptic transmission (By similarity).[UniProtKB:Q8BHC1][3] See AlsoReferences
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Categories: Homo sapiens | Large Structures | Arrowsmith CH | Bountra C | Diaz-Saez L | Edwards A | Huber K | Jung S | Von Delft F
