AGGF1

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

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

OMIM ID:`OMIM ID 608464 `_

NCBI Phenotypes

No phenotypes found linked to this gene.

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

KEGG Pathways

No pathways found linked to this gene.

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]

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