.. _AGGF1: AGGF1 ^^^^^ .. contents:: :local: General Information ******************* :Full gene name: angiogenic factor with G patch and FHA domains 1 :Entrez Gene ID: 55109 :Location: 5q13.3 :Synonyms: GPATCH7, GPATC7, VG5Q, HSU84971, HUS84971 :Type: protein-coding User SNPs ********* SNPs given by the user that are near or inside this gene: +-----------+---------------+------------+ | SNP | Distance (bp) | Direction | +===========+===============+============+ | rs4457053 | 63891 | downstream | +-----------+---------------+------------+ .. _AGGF1 Gene summary: NCBI Summary ************ This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010] .. _OMIM ID 608464 : http://omim.org/entry/608464 .. _AGGF1 OMIM Text: OMIM **** :OMIM ID: `OMIM ID 608464 `_ .. _AGGF1 Phenotype: NCBI Phenotypes *************** No phenotypes found linked to this gene. .. _AGGF1 GO Term: Gene Ontology ************* * nucleic acid binding * positive regulation of angiogenesis * RNA processing * protein binding * vasculogenesis * extracellular region * perinuclear region of cytoplasm * cytoplasm * cell adhesion * eukaryotic cell surface binding * angiogenesis * positive regulation of endothelial cell proliferation .. _AGGF1 Pathway: KEGG Pathways ************* No pathways found linked to this gene. .. _AGGF1 GeneRIF: GeneRIFs ******** * Affinity Capture-MS [`PMID 17332742`_] * results define VG5Q as an angiogenic factor, establish VG5Q as a susceptibility gene for Klippel-Trenaunay syndrome, and show that increased angiogenesis is a molecular pathogenic mechanism of KTS [`PMID 14961121`_] * VG5Q interacts with TWEAK [`PMID 14961121`_] * analysis of sphingolipid modulation of angiogenic factor expression in neuroblastoma [`PMID 21576349`_] * Two-hybrid [`PMID 16189514`_] * Two-hybrid [`PMID 16189514`_] * VG5Q, E133K is a mutation that causes Klippel-Trenaunay and other overgrowth syndromes. [`PMID 16443853`_] * identified two tagSNPs, rs13155212 and rs7704267 that capture information for all common variants in AGGF1 as a candidate susceptibility gene for Klippel-Trenaunay syndrome [`PMID 18564129`_] * Observational study of gene-disease association. (HuGE Navigator) [`PMID 18564129`_] * Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) [`PMID 17103452`_] * Affinity Capture-MS [`PMID 20360068`_] * This review describes the somatic mutation for angiogenic factor VG5Q, which may be the cause of the multisystem disorder Klippel-Trenaunay syndrome. [`PMID 16911369`_] * Affinity Capture-MS [`PMID 19615732`_] * Knockdown of GATA1 expression by siRNA reduced expression of AGGF1, and resulted in endothelial cell apoptosis and inhibition of vessel formation. [`PMID 19556247`_] .. _PMID 17332742: http://www.ncbi.nlm.nih.gov/pubmed/17332742 .. _PMID 14961121: http://www.ncbi.nlm.nih.gov/pubmed/14961121 .. _PMID 21576349: http://www.ncbi.nlm.nih.gov/pubmed/21576349 .. _PMID 16189514: http://www.ncbi.nlm.nih.gov/pubmed/16189514 .. _PMID 16443853: http://www.ncbi.nlm.nih.gov/pubmed/16443853 .. _PMID 18564129: http://www.ncbi.nlm.nih.gov/pubmed/18564129 .. _PMID 17103452: http://www.ncbi.nlm.nih.gov/pubmed/17103452 .. _PMID 20360068: http://www.ncbi.nlm.nih.gov/pubmed/20360068 .. _PMID 16911369: http://www.ncbi.nlm.nih.gov/pubmed/16911369 .. _PMID 19615732: http://www.ncbi.nlm.nih.gov/pubmed/19615732 .. _PMID 19556247: http://www.ncbi.nlm.nih.gov/pubmed/19556247 .. _AGGF1 Pubmed: PubMed Articles *************** *Recent articles:* * Li MH et al. "Sphingolipid modulation of angiogenic factor expression in neuroblastoma." Cancer Prev Res (Phila). 2011 Aug;4(8):1325-32. `PMID 21576349`_ * Hutchins JR et al. "Systematic analysis of human protein complexes identifies chromosome segregation proteins." Science. 2010 Apr 30;328(5978):593-9. `PMID 20360068`_ * Fan C et al. "Novel roles of GATA1 in regulation of angiogenic factor AGGF1 and endothelial cell function." J Biol Chem. 2009 Aug 28;284(35):23331-43. `PMID 19556247`_ * Sowa ME et al. "Defining the human deubiquitinating enzyme interaction landscape." Cell. 2009 Jul 23;138(2):389-403. `PMID 19615732`_ * Hu Y et al. "Identification of association of common AGGF1 variants with susceptibility for Klippel-Trenaunay syndrome using the structure association program." Ann Hum Genet. 2008 Sep;72(Pt 5):636-43. `PMID 18564129`_ * Behzadnia N et al. "Composition and three-dimensional EM structure of double affinity-purified, human prespliceosomal A complexes." EMBO J. 2007 Mar 21;26(6):1737-48. `PMID 17332742`_ * Gutierrez S et al. "The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population." Am J Med Genet A. 2006 Dec 15;140(24):2832-3. `PMID 17103452`_ * Kihiczak GG et al. "Klippel-Trenaunay syndrome: a multisystem disorder possibly resulting from a pathogenic gene for vascular and tissue overgrowth." Int J Dermatol. 2006 Aug;45(8):883-90. `PMID 16911369`_ * Barker KT et al. "Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes?." J Med Genet. 2006 Jul;43(7):613-4. `PMID 16443853`_ * Rual JF et al. "Towards a proteome-scale map of the human protein-protein interaction network." Nature. 2005 Oct 20;437(7062):1173-8. `PMID 16189514`_ .. _PMID 17332742: http://www.ncbi.nlm.nih.gov/pubmed/17332742 .. _PMID 16189514: http://www.ncbi.nlm.nih.gov/pubmed/16189514 .. _PMID 16443853: http://www.ncbi.nlm.nih.gov/pubmed/16443853 .. _PMID 18564129: http://www.ncbi.nlm.nih.gov/pubmed/18564129 .. _PMID 19556247: http://www.ncbi.nlm.nih.gov/pubmed/19556247 .. _PMID 17103452: http://www.ncbi.nlm.nih.gov/pubmed/17103452 .. _PMID 20360068: http://www.ncbi.nlm.nih.gov/pubmed/20360068 .. _PMID 16911369: http://www.ncbi.nlm.nih.gov/pubmed/16911369 .. _PMID 19615732: http://www.ncbi.nlm.nih.gov/pubmed/19615732 .. _PMID 21576349: http://www.ncbi.nlm.nih.gov/pubmed/21576349