Property Summary

NCBI Gene PubMed Count 52
Grant Count 38
R01 Count 24
Funding $7,440,076.95
PubMed Score 80.21
PubTator Score 91.20

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma -1.141 0.000
non primary Sjogren syndrome sicca 1.100 0.021
lung carcinoma -1.200 0.000

 GO Function (1)

Gene RIF (43)

PMID Text
26637356 Data (including data from studies in knockout mice) suggest Munc13-4 binds to Rab11 and regulates trafficking of Rab11-containing vesicles; Munc13-4 appears to regulate final steps of Rab11-positive vesicle docking at plasma membrane in exocytosis.
26637270 Munc13-4 conveys Ca(2+) sensitivity to platelet SNARE-mediated membrane fusion and reveal a potential mechanism by which Munc13-4 bridges and stabilizes apposing membranes destined for fusion.
25980904 Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis.
25573973 These data support an important role for Munc13-4 in human platelet degranulation
25312756 These studies highlight the need for RAB27A sequencing in patients with FHL with normal pigmentation and identify a critical binding site for Munc13-4 on Rab27a, revealing the molecular basis of this interaction.
24842371 Data indicate that Munc13-4 is highly expressed in differentiated NK cells and effector CD8(+) T lymphocytes.
24470399 The prevalence of a 253-kb inversion and two deep intronic mutations, c.118-308C > T and c.118-307G > A, in UNC13D was determined in 1709 North American patients with type 3 hemophagocytic lymphohistiocytosis. 8 new mutations were also found.
24043286 This patient the patient carried mutations in FAS, XIAP, and UNC13D genes inherited from his mother who had rheumatoid arthritis; UNC13D is involved in familial hemophagocytic lymphohistiocytosis
23924873 this is the first report of HLH in association with EVC syndrome, and the IVS13+5G>A mutation that we believe is causative of EVC in our patient is also unreported.
23840885 These data suggest that rare loss-of-function variations of UND13D are risk factors for autoimmune lymphoproliferative syndrome development.
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AA Sequence

MATLLSHPQQRPPFLRQAIKIRRRRVRDLQDPPPQMAPEIQPPSHHFSPEQRALLYEDALYTVLHRLGHP      1 - 70
EPNHVTEASELLRYLQEAFHVEPEEHQQTLQRVRELEKPIFCLKATVKQAKGILGKDVSGFSDPYCLLGI     71 - 140
EQGVGVPGGSPGSRHRQKAVVRHTIPEEETHRTQVITQTLNPVWDETFILEFEDITNASFHLDMWDLDTV    141 - 210
ESVRQKLGELTDLHGLRRIFKEARKDKGQDDFLGNVVLRLQDLRCREDQWYPLEPRTETYPDRGQCHLQF    211 - 280
QLIHKRRATSASRSQPSYTVHLHLLQQLVSHEVTQHEAGSTSWDGSLSPQAATVLFLHATQKDLSDFHQS    281 - 350
MAQWLAYSRLYQSLEFPSSCLLHPITSIEYQWIQGRLKAEQQEELAASFSSLLTYGLSLIRRFRSVFPLS    351 - 420
VSDSPARLQSLLRVLVQMCKMKAFGELCPNTAPLPQLVTEALQTGTTEWFHLKQQHHQPMVQGIPEAGKA    421 - 490
LLGLVQDVIGDLHQCQRTWDKIFHNTLKIHLFSMAFRELQWLVAKRVQDHTTVVGDVVSPEMGESLFQLY    491 - 560
ISLKELCQLRMSSSERDGVLALDNFHRWFQPAIPSWLQKTYNEALARVQRAVQMDELVPLGELTKHSTSA    561 - 630
VDLSTCFAQISHTARQLDWPDPEEAFMITVKFVEDTCRLALVYCSLIKARARELSSGQKDQGQAANMLCV    631 - 700
VVNDMEQLRLVIGKLPAQLAWEALEQRVGAVLEQGQLQNTLHAQLQSALAGLGHEIRTGVRTLAEQLEVG    701 - 770
IAKHIQKLVGVRESVLPEDAILPLMKFLEVELCYMNTNLVQENFSSLLTLLWTHTLTVLVEAAASQRSSS    771 - 840
LASNRLKIALQNLEICFHAEGCGLPPKALHTATFQALQRDLELQAASSRELIRKYFCSRIQQQAETTSEE    841 - 910
LGAVTVKASYRASEQKLRVELLSASSLLPLDSNGSSDPFVQLTLEPRHEFPELAARETQKHKKDLHPLFD    911 - 980
ETFEFLVPAEPCRKAGACLLLTVLDYDTLGADDLEGEAFLPLREVPGLSGSEEPGEVPQTRLPLTYPAPN    981 - 1050
GDPILQLLEGRKGDREAQVFVRLRRHRAKQASQHALRPAP                                 1051 - 1090
//

Text Mined References (59)

PMID Year Title
26637356 2016 Munc13-4 Is a Rab11-binding Protein That Regulates Rab11-positive Vesicle Trafficking and Docking at the Plasma Membrane.
26637270 2016 Role of Munc13-4 as a Ca2+-dependent tether during platelet secretion.
26627825 2016 Extracellular Fibrinogen-binding Protein (Efb) from Staphylococcus aureus Inhibits the Formation of Platelet-Leukocyte Complexes.
25980904 2015 Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25573973 2015 First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3).
25312756 2015 Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.
24842371 2014 Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency.
24470399 2014 The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
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