RAB39B

This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. [provided by RefSeq]

Full Name

RAB39B, member RAS oncogene family

Function

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).

Biological Process

Biological Process autophagyIEA:UniProtKB-KW
Biological Process protein transportIEA:UniProtKB-KW
Biological Process Rab protein signal transductionIEA:InterPro
Biological Process regulation of autophagyManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process synapse organizationISS:UniProtKB
Biological Process vesicle-mediated transportISS:UniProtKB

Cellular Location

Cell membrane
Cytoplasmic vesicle membrane
Golgi apparatus
Partial colocalization with markers that cycle from the cell surface to the trans-Golgi network.

Involvement in disease

Intellectual developmental disorder, X-linked 72 (XLID72):
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. XLID72 patients can manifest autism spectrum disorder, seizures and macrocephaly as additional features.
Waisman syndrome (WSMN):
A neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease.