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Unc-13 homolog D

Munc13-4, FHL3, UNC13D
This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Perforin, Munc13, HAD, FHL2, LIM
Papers using Munc13-4 antibodies
The LIM-only protein FHL2 interacts with β-catenin and promotes differentiation of mouse myoblasts
Wixler Viktor et al., In The Journal of Cell Biology, 1999
... cDNA fragments encoding the complete sequence of FHL1, FHL2, FHL3, or their deletion mutants were cloned in-frame into pACT2 or pAS2-1 vectors (CLONTECH Laboratories, Inc.) as described ...
Papers on Munc13-4
FHL3 differentially regulates the expression of MyHC isoforms through interactions with MyoD and pCREB.
Zuo et al., Wuhan, China. In Cell Signal, Jan 2016
Four and a half LIM domain protein 3 (FHL3) regulates myoblasts differentiation and gene expression by acting as a transcriptional co-activator or co-repressor.
Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry.
Aricò et al., Florence, Italy. In J Allergy Clin Immunol, Jan 2016
Taken together, mutations of the genes PRF1 (FHL2) and UNC13D (FHL3) accounted for 70% of cases of FHL.
Role of Munc13-4 as a Ca2+-dependent tether during platelet secretion.
Whiteheart et al., Lexington, United States. In Biochem J, Jan 2016
To address the potential role of Munc13-4 as a tethering protein in platelets, we examined mepacrine-stained, dense granule mobility and secretion in platelets from wild-type and Munc13-4 null ( Unc13d(Jinx) ) mice.
The FHL2 regulation in the transcriptional circuitry of human cancers.
Tsui et al., Hong Kong, Hong Kong. In Gene, Dec 2015
Five members have been categorized into the FHL subfamily, which are FHL1, FHL2, FHL3, FHL4 and activator of CREM in testis (ACT) in human.
Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2.
Kim et al., Seoul, South Korea. In Clin Genet, Nov 2015
Fifty Korean pediatric patients with HLH who lacked pathogenic mutations in PRF1, UNC13D, or in STX11 from the previous series of 72 patients with HLH were analyzed for STXBP2 mutations by conventional sequencing analyses.
Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis.
Zhou et al., Wuhan, China. In Int J Hematol, Oct 2015
Sequence analysis of genomic DNA from the patient's peripheral blood demonstrated heterozygous for UNC13D mutation: c. 1232 G>A, and AP3B1 mutation: c. 1075 A>G, which were predicted to be pathogenic.
A Hemophagocytic lymphohistiocytosis case, with newly Defined UNC13D (c.175G>C; p.Ala59Pro) Mutation and a rare complication.
Koçyiğit et al., In Turk J Haematol, Oct 2015
UNASSIGNED: Hemophagocytic lymphohistiocytosis (HLH) represent a severe hyperinflammatory condition with cardinal symptoms of prolonged fever, cytopenias, hepatosplenomegaly, and hemophagocytosis by activated, morphologically benign macrophages with impaired function of natural killer cells and cytotoxic T lymphocytes.
High-Throughput Differentiation and Screening of a Library of Mutant Stem Cell Clones Defines New Host-Based Genes Involved in Rabies Virus Infection.
Sacchettini et al., College Station, United States. In Stem Cells, Aug 2015
We validated the immune modulatory gene Unc13d and the dynein adapter gene Bbs4 by treating wild-type ESCs and primary neurons with siRNA; treated cultures were resistant to rabies infection/replication.
Prognostic Factors and Long-Term Outcome in 52 Turkish Children With Hemophagocytic Lymphohistiocytosis.
Gursel et al., Ankara, Turkey. In Pediatr Crit Care Med, Jul 2015
Fourteen of them had PRF1, STX11, STXBP2, and UNC13D mutations, and four had Rab27a and LYST mutations.
Rotavirus-associated hemophagocytic lymphohistiocytosis (HLH) after hematopoietic stem cell transplantation for familial HLH.
Cho et al., Ch'ŏngju, South Korea. In Pediatr Int, Apr 2015
Herein, we report a case of acquired HLH in a child who had received allogeneic hematopoietic stem cell transplantation for familial HLH with UNC13D mutation.
Primary Immunodeficiencies Associated with EBV Disease.
Cohen, Bethesda, United States. In Curr Top Microbiol Immunol, 2014
Mutations in three genes associated with hemophagocytic lymphohistocytosis, PRF1, STXBP2, and UNC13D, can also predispose to severe chronic active EBV disease.
[Research advances in molecular genetics and treatment of familial hemophagocytic lymphohistiocytosis].
Hu et al., Tianjin, China. In Zhongguo Dang Dai Er Ke Za Zhi, 2013
This article aims to review research advances on PRF1, UNC13D, STX11 and STXBP2, as well as the other 5 genes associated with familial HLH based on molecular genetics, and to summarize diagnosis and treatment methods for this disease.
Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.
Cullinane et al., Rockville, United States. In Exp Cell Res, 2013
In lymphocytes, Munc13-4 is an effector of Rab27a, and mutations in the gene encoding this protein (UNC13D) cause Familial Hemophagocytic Lymphohistiocytosis Type 3 (FHL3).
Identification and characterization of FHL3 as a novel angiogenin-binding partner.
Xu et al., Beijing, China. In Gene, 2012
findings suggest that the interaction between Ang and FHL3 may provide some clues to the mechanisms of Ang-regulated cell growth and apoptosis
Munc13-4 reconstitutes calcium-dependent SNARE-mediated membrane fusion.
Martin et al., Madison, United States. In J Cell Biol, 2012
study reports that Munc13-4 bound Ca(2 ) and restored Ca(2 )-dependent granule exocytosis to permeable cells (platelets, mast, and neuroendocrine cells) dependent on putative Ca(2 )-binding residues in C2A and C2B.
[A case report of adult onset of primary hemophagocytic syndrome with literature review].
Wang et al., Beijing, China. In Zhonghua Xue Ye Xue Za Zhi, 2012
Exons of PRF1, STX11, UNC13D, SH2D1A and RAB27A genes coding region were amplified using polymerase chain reaction.
PIP2-dependent regulation of Munc13-4 endocytic recycling: impact on the cytolytic secretory pathway.
Galandrini et al., Roma, Italy. In Blood, 2012
Data indicate that Munc13-4 reinternalization is required for the maintenance of an intracellular pool that is functional to guarantee the serial killing potential.
Four-and-a-half LIM domain proteins inhibit transactivation by hypoxia-inducible factor 1.
Semenza et al., Baltimore, United States. In J Biol Chem, 2012
FHL3 does not bind to HIF-1alpha or p300, indicating that it regulates transactivation by a novel molecular mechanism.
Downregulation and antiproliferative role of FHL3 in breast cancer.
Ye et al., Beijing, China. In Iubmb Life, 2011
FHL3 suppressed anchorage-dependent and -independent growth of human breast cancer cells.
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).
de Saint Basile et al., Paris, France. In Cell, 2003
HMunc13-4 mutations were shown to cause familial hemophagocytic lymphohistiocytosis; HMunc13-4 is essential for the priming step of cytolytic granules secretion preceding vesicle membrane fusion.
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