Property Summary

NCBI Gene PubMed Count 28
PubMed Score 64.29
PubTator Score 28.93

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
astrocytic glioma -2.500 3.4e-03
posterior fossa group A ependymoma -4.700 4.3e-20
oligodendroglioma -1.500 2.3e-07
glioblastoma -3.900 6.9e-06
sonic hedgehog group medulloblastoma -4.200 3.3e-08
atypical teratoid / rhabdoid tumor -4.300 1.6e-07
medulloblastoma, large-cell -4.000 3.0e-06
primitive neuroectodermal tumor -4.200 1.3e-05
pediatric high grade glioma -3.600 9.6e-08
pilocytic astrocytoma -3.900 2.2e-12
subependymal giant cell astrocytoma -3.246 1.6e-02
lung carcinoma 3.000 7.5e-35
Alzheimer's disease -1.700 3.2e-02
Pick disease -1.600 6.4e-03
Down syndrome -1.400 2.6e-03

Gene RIF (7)

PMID Text
25919460 Rabphilin-3A is a major autoantigen in Lymphocytic infundibulo-neurohypophysitis (LINH). Autoantibodies to rabphilin-3A may serve as biomarker for the diagnosis of LINH and be useful for the differential diagnosis of Central diabetes insipidus.
24302762 Structural insights into the Ca2+ and PI(4,5)P2 binding modes of the C2 domains of rabphilin 3A and synaptotagmin 1.
24200817 rabphilin 3A loss correlated with dementia severity, cholinergic deafferentation, and increased beta-amyloid concentrations
17981610 analysis of a novel single nucleotide polymorphism in the 5' untranslated region of the Rabphillin-3A-Like gene in colorectal adenocarcinoma
17877635 We found a reduction in rabphilin 3a, a protein involved in vesicle docking and recycling, in Huntington disease[HD] brains of grade III and IV. A deficient pre-synaptic transmitter release may underlie some symptoms of HD.
15207266 Since rab3a participates in the docking and fusion of synaptic vesicles, and rabsa binding to alpha-synuclein is increased in Lewy body disease (LBD), it can be suggested that exocytosis of neurotransmitters may be impaired in LBD.
12937130 Rabphilin-3A and Rab3A are present in normal mouse, rat, and human kidneys, with an exclusively glomerular expression and a comma-like pattern of positivity along the glomerular capillary wall, suggestive for podocyte staining.

AA Sequence

MTDTVFSNSSNRWMYPSDRPLQSNDKEQLQAGWSVHPGGQPDRQRKQEELTDEEKEIINRVIARAEKMEE      1 - 70
MEQERIGRLVDRLENMRKNVAGDGVNRCILCGEQLGMLGSACVVCEDCKKNVCTKCGVETNNRLHSVWLC     71 - 140
KICIEQREVWKRSGAWFFKGFPKQVLPQPMPIKKTKPQQPVSEPAAPEQPAPEPKHPARAPARGDSEDRR    141 - 210
GPGQKTGPDPASAPGRGNYGPPVRRASEARMSSSSRDSESWDHSGGAGDSSRSPAGLRRANSVQASRPAP    211 - 280
GSVQSPAPPQPGQPGTPGGSRPGPGPAGRFPDQKPEVAPSDPGTTAPPREERTGGVGGYPAVGAREDRMS    281 - 350
HPSGPYSQASAAAPQPAAARQPPPPEEEEEEANSYDSDEATTLGALEFSLLYDQDNSSLQCTIIKAKGLK    351 - 420
PMDSNGLADPYVKLHLLPGASKSNKLRTKTLRNTRNPIWNETLVYHGITDEDMQRKTLRISVCDEDKFGH    421 - 490
NEFIGETRFSLKKLKPNQRKNFNICLERVIPMKRAGTTGSARGMALYEEEQVERVGDIEERGKILVSLMY    491 - 560
STQQGGLIVGIIRCVHLAAMDANGYSDPFVKLWLKPDMGKKAKHKTQIKKKTLNPEFNEEFFYDIKHSDL    561 - 630
AKKSLDISVWDYDIGKSNDYIGGCQLGISAKGERLKHWYECLKNKDKKIERWHQLQNENHVSSD          631 - 694
//

Text Mined References (29)

PMID Year Title
25919460 2015 Rabphilin-3A as a Targeted Autoantigen in Lymphocytic Infundibulo-neurohypophysitis.
24302762 2013 Structural insights into the Ca2+ and PI(4,5)P2 binding modes of the C2 domains of rabphilin 3A and synaptotagmin 1.
24200817 2014 Decreased rabphilin 3A immunoreactivity in Alzheimer's disease is associated with A? burden.
22139419 2011 New gene functions in megakaryopoiesis and platelet formation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17981610 2008 Clinical significance of a novel single nucleotide polymorphism in the 5' untranslated region of the Rabphillin-3A-Like gene in colorectal adenocarcinoma.
17877635 2007 Loss of SNAP-25 and rabphilin 3a in sensory-motor cortex in Huntington's disease.
17149709 2007 Visualization of Rab3A dissociation during exocytosis: a study by total internal reflection microscopy.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15207266 2004 Abnormal alpha-synuclein interactions with rab3a and rabphilin in diffuse Lewy body disease.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12937130 2003 Glomerular podocytes possess the synaptic vesicle molecule Rab3A and its specific effector rabphilin-3a.
12871946 2003 Rim, a component of the presynaptic active zone and modulator of exocytosis, binds 14-3-3 through its N terminus.
12578829 2003 Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11377421 2001 The scaffolding protein CASK mediates the interaction between rabphilin3a and beta-neurexins.
10231032 1999 Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
10099709 1999 Genetics of synaptic vesicle function: toward the complete functional anatomy of an organelle.
10025402 1999 Structural basis of Rab effector specificity: crystal structure of the small G protein Rab3A complexed with the effector domain of rabphilin-3A.
9244430 1997 Organization of the human beta-adducin gene (ADD2).
8901523 1996 Mirror image motifs mediate the interaction of the COOH terminus of multiple synaptotagmins with the neurexins and calmodulin.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8636125 1996 Distinct functional properties of Rab3A and Rab3B in PC12 neuroendocrine cells.
8060298 1994 Localization of Rabphilin-3A on the synaptic vesicle.
7999065 1994 Identification as beta-adducin of a protein interacting with rabphilin-3A in the presence of Ca2+ and phosphatidylserine.
7822236 1994 Cloning of a mouse Rabphilin-3A expressed in hormone-secreting cells.
7802677 1994 Identification of a rabphilin-3A-interacting protein as GTP cyclohydrolase I in PC12 cells.
7707875 1995 Rabphilin-3A binds to a M(r) 115,000 polypeptide in a phosphatidylserine- and Ca(2+)-dependent manner.