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Four and a half LIM domains 5

FH-L5, LIM protein ACT
The protein encoded by this gene is coordinately expressed with activator of cAMP-responsive element modulator (CREM). It is associated with CREM and confers a powerful transcriptional activation function. CREM acts as a transcription factor essential for the differentiation of spermatids into mature spermatozoa. There are multiple polyadenylation sites found in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Dec 2009] (from NCBI)
Top mentioned proteins: Munc13-4, Perforin, FHL2, Munc13, LIM
Papers on FH-L5
Gene-based pleiotropy across migraine with aura and migraine without aura patient groups.
Nyholt et al., Brisbane, Australia. In Cephalalgia, Jan 2016
Four of these genes (TRPM8, UFL1, FHL5 and LRP1) were located in close proximity to previously reported genome-wide significant SNPs for migraine, while two genes, TARBP2 and NPFF separated by just 259 bp on chromosome 12q13.13,
Munc18-2 is required for Syntaxin 11 Localization on the Plasma Membrane in Cytotoxic T-Lymphocytes.
Griffiths et al., Cambridge, United Kingdom. In Traffic, Dec 2015
Using a novel FHL5 Munc18-2 mutation that results in loss of protein, cytotoxicity and degranulation together with CTL from an FHL4 patient lacking STX11, enabled us to localize endogenous STX11 and Munc18-2 in CTL.
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
Most recently, STXBP2 has been identified as the causative gene of type 5 FHL (FHL5) with a worldwide distribution.
Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia.
Rezaei et al., Tehrān, Iran. In J Clin Immunol, 2015
Genetic studies revealed a homozygous mutation in the STXP2 gene; and thus, the diagnosis of FHL5 was confirmed.
Association of genetic loci for migraine susceptibility in the she people of China.
Huang et al., Ningde, China. In J Headache Pain, 2014
rs4379368 is in the succinic HMG coenzyme A transferase (C7orf10) gene; rs10504861 is near the matrix metallopeptidase 16 (MMP16) gene; rs10915437 is near the adherens junctions associated protein 1 (AJAP1) gene; rs12134493 is upstream of the tetraspanin 2 (TSPAN2) gene; and rs13208321 is within the four and a half LIM domains protein 5 (FHL5) gene.
Syntaxin binding mechanism and disease-causing mutations in Munc18-2.
Griffiths et al., Cambridge, United Kingdom. In Proc Natl Acad Sci U S A, 2013
Mutations in either syntaxin 11 (Stx11) or Munc18-2 abolish cytotoxic T lymphocytes (CTL) and natural killer cell (NK) cytotoxicity, and give rise to familial hemophagocytic lymphohistiocytosis (FHL4 or FHL5, respectively).
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
International Headache Genetics Consortium et al., Cambridge, United Kingdom. In Nat Genet, 2013
Five loci are new: near AJAP1 at 1p36, near TSPAN2 at 1p13, within FHL5 at 6q16, within C7orf10 at 7p14 and near MMP16 at 8q21.
Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations.
Posovszky et al., Jerusalem, Israel. In Pediatr Blood Cancer, 2013
PROCEDURE: We investigated four patients with FHL5 suffering from severe enteropathy and one of whom also had renal tubular dysfunction despite successful hematopoietic stem cell transplantation (HSCT).
Cyclic adenosine monophosphate response-element binding protein activation by mitogen-activated protein kinase-activated protein kinase 3 and four-and-a-half LIM domains 5 plays a key role for vein graft intimal hyperplasia.
Sasajima et al., Asahikawa, Japan. In J Vasc Surg, 2013
METHODS: Using microarray analysis of human vein graft samples, we identified two previously unrecognized IH-related genes, mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3) and four-and-a-half LIM domains 5 (FHL5).
Munc18b/STXBP2 is required for platelet secretion.
Whiteheart et al., Lexington, United States. In Blood, 2012
Familial hemophagocytic lymphohistiocytosis type 5 (FHL5) is caused by defects in the Munc18b/STXBP2 gene.
Familial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series.
Aricò et al., Florence, Italy. In Plos One, 2011
Their genetic diagnoses are: FHL2 (n = 6), FHL3 (n = 2), FHL5 (n = 1), XLP1 (n = 2).
Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.
Turck et al., München, Germany. In J Psychiatr Res, 2010
This protein has been found differentially expressed in thalami from patients with schizophrenia.
Angeborene hämophagozytische Lymphohistiozytose (HLH).
de Saint Basile et al., Zürich, Switzerland. In Klin Padiatr, 2010
Disease-causing mutations in the genes encoding perforin (PRF1, FHL2), munc13-4 (UNC13D, FHL3), syntaxin 11 (STX11, FHL4), and munc18-2 (UNC18-2/STXBP2, FHL5) have been previously identified in Familial Hemophagocyic Lymphohistiocytosis (FHL), whereas mutation in RAB27A and LYST account for Griscelli syndome type 2 and Chediak-Higashi syndrome, respectively.
Sperm associated antigen 8 (SPAG8), a novel regulator of activator of CREM in testis during spermatogenesis.
Wang et al., Beijing, China. In Febs Lett, 2010
Results indicate that SPAG8 acts as a regulator of ACT and plays an important role in CREM-ACT-mediated gene transcription during spermatogenesis.
Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.
Yasukawa et al., Japan. In Plos One, 2009
Mutations of the newly identified causative gene for FHL5, STXBP2, and the cytotoxicity and degranulation activity of CTLs in FHL patients, were analyzed.
Sequencing and haplotype analysis of the activator of CREM in the testis (ACT) gene in populations of fertile and infertile males.
Carrell et al., Salt Lake City, United States. In Mol Hum Reprod, 2006
Different haplotypes within the ACT gene may contribute to male factor subfertility.
Hemophagocytic Lymphohistiocytosis, Familial
Villanueva et al., Seattle, United States. In Unknown Journal, 2006
Five disease subtypes (FHL1, FHL2, FHL3, FHL4, and FHL5) are described.
Expression of cAMP-responsive element binding protein and inducible cAMP early repressor in hyperfunctioning thyroid adenomas.
Chiovato et al., Florence, Italy. In Eur J Endocrinol, 2002
No difference was found in the levels of ICER transcripts in thyroid adenomas and surrounding normal tissue (obtained at surgery), independently of the TSH receptor gene status.
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