GeneID: 224


Common Name: AGGF1 Type: Gene
Chromosome: 5 (NC_000005.10) Locus: NG_027822.1 (AGGF1)
HUGO Symbol: AGGF1 Full Name: angiogenic factor with G-patch and FHA domains 1
Exons: 14 Introns: 13

The AGGF1 gene encodes a potent angiogenic factor, which binds to the surface of endothelial cells and triggers endothelial cell proliferation and angiogenesis. It functions in the initiation and maintenance of the vascular system. It likely acts in an autocrine fashion, although its membrane receptors still remain elusive. The encoded protein contains a forkhead-associated domain (phospho-specific protein-protein interaction motif implicated in intracellular signalling) and a G-patch domain (RNA-binding motif). Deregulation of this gene results in impaired blood vessel growth. Mutations in the AGGF1 gene have been linked with Klippel-Trenauray syndrome, a rare congenital vascular disease. AGGF1 has an anti-inflammatory function. It acts as a regulator of liver fibrosis by interacting with and modulating the activity of SMAD7, a key transcriptional regulator in the TGF-β signalling pathway. A polymorphism in this gene associated with glomerular filtration rate in pediatric patients with sickle cell disease.

Synonyms: VG5Q , GPATC7 , GPATCH7 , HSU84971 , HUS84971


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Publications / Origin

  1. Tian XL, Kadaba R, You SA, Liu M, Timur AA, Yang L, Chen Q, Szafranski P, Rao S, Wu L, Housman DE, DiCorleto PE, Driscoll DJ, Borrow J, Wang Q, Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome., Nature , 427(6975), 640-5, 2004 PubMed
  2. Hu FY, Wu C, Li Y, Xu K, Wang WJ, Cao H, Tian XL, AGGF1 is a novel anti-inflammatory factor associated with TNF-α-induced endothelial activation., Cell. Signal. , 25(8), 1645-53, 2013 PubMed
  3. Schaefer BA, Flanagan JM, Alvarez OA, Nelson SC, Aygun B, Nottage KA, George A, Roberts CW, Piccone CM, Howard TA, Davis BR, Ware RE, Genetic Modifiers of White Blood Cell Count, Albuminuria and Glomerular Filtration Rate in Children with Sickle Cell Anemia., PLoS ONE , 11(10), e0164364, 2016 PubMed
  4. Zhou B, Zeng S, Li L, Fan Z, Tian W, Li M, Xu H, Wu X, Fang M, Xu Y, Angiogenic factor with G patch and FHA domains 1 (Aggf1) regulates liver fibrosis by modulating TGF-β signaling., Biochim. Biophys. Acta , 1862(6), 1203-13, 2016 PubMed
Created on 2017-03-21 13:54:44, Last reviewed on (Show full history)

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