Property Summary

NCBI Gene PubMed Count 25
PubMed Score 15.26
PubTator Score 12.94

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q96DA2 Q5JT79 Q8NEX3
Symbols WSMN
MRX72

Gene

Gene RIF (9)

PMID Text
26739247 RAB39B mutations are a rare finding in Parkinson disease patients
26399558 RAB39B is an essential regulator of vesicular-trafficking in clinically typical Parkinson's disease
26163985 It plays little or no role in the development of PD in Chinese population.
25784538 RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition
25434005 The loss of RAB39B results in dysregulation of alpha-synuclein homeostasis and a spectrum of neuropathological features that implicate RAB39B in the pathogenesis of Parkinson disease and potentially other neurodegenerative disorders.
24357492 increased dosage of RAB39B causes a disturbed neuronal development leading to cognitive impairment
24006491 Data indicate that myosin Va interacted with multiple new Rab subfamilies including Rab6, Rab14 and Rab39B.
20159109 These results demonstrate developmental and functional neuronal alteration as a consequence of downregulation of RAB39B and emphasize the critical role of vesicular trafficking in the development of neurons and human intellectual abilities.
12438742 RAB39B was expressed in a variety of human tissues and located in human chromosome Xq28.

AA Sequence

MEAIWLYQFRLIVIGDSTVGKSCLIRRFTEGRFAQVSDPTVGVDFFSRLVEIEPGKRIKLQIWDTAGQER      1 - 70
FRSITRAYYRNSVGGLLLFDITNRRSFQNVHEWLEETKVHVQPYQIVFVLVGHKCDLDTQRQVTRHEAEK     71 - 140
LAAAYGMKYIETSARDAINVEKAFTDLTRDIYELVKRGEITIQEGWEGVKSGFVPNVVHSSEEVVKSERR    141 - 210
CLC                                                                       211 - 213
//

Text Mined References (26)

PMID Year Title
26739247 2016 RAB39B mutations are a rare finding in Parkinson disease patients.
26399558 2015 The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.
26163985 2015 Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease.
25784538 2015 The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition.
25434005 2014 Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with ?-synuclein pathology.
25416956 2014 A proteome-scale map of the human interactome network.
24705354 2014 The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease.
24357492 2014 Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains.
24349490 2013 Rab39a interacts with phosphatidylinositol 3-kinase and negatively regulates autophagy induced by lipopolysaccharide stimulation in macrophages.
24006491 2013 Identification and characterization of multiple novel Rab-myosin Va interactions.
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