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Gene Review

AFAP1  -  actin filament associated protein 1

Homo sapiens

Synonyms: 110 kDa actin filament-associated protein, AFAP, AFAP-110, AFAP110, Actin filament-associated protein 1
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Disease relevance of AFAP1


High impact information on AFAP1


Biological context of AFAP1

  • A subset of germline APC mutations results in an attenuated FAP (AFAP) phenotype, in which patients develop fewer tumors and develop them at an older age [6].
  • Although a genotype-phenotype correlation between the locations of APC germline mutations and the development of AFAP has been well documented, the mechanism for AFAP has not been well defined [6].
  • Accumulating evidence indicates that patients carrying germline APC mutations in the first four coding exons, in the alternatively spliced region of exon 9, or in the 3' half of the coding region usually develop AFAP [10].
  • OBJECTIVES: Using a mathematical model of the human atrial action potential (AP), we aimed to: (1) evaluate the role of ionic abnormalities in producing AP changes characteristic of AF in humans and (2) explore the effects of specific channel blockade on the normal and AF-modified AP (AFAP) [11].
  • Mechanical stretch increased tyrosine phosphorylation of rat AFAP and its binding to c-Src within the initial several minutes [12].

Anatomical context of AFAP1


Associations of AFAP1 with chemical compounds


Other interactions of AFAP1


Analytical, diagnostic and therapeutic context of AFAP1


  1. Genetics of hereditary colorectal cancer. Jo, W.S., Chung, D.C. Semin. Oncol. (2005) [Pubmed]
  2. Pulmonary sclerosing hemangioma associated with familial adenomatous polyposis. Hosaka, N., Sasaki, T., Adachi, K., Sato, T., Tanaka, T., Miura, Y., Sawai, T., Toki, J., Hisha, H., Okamura, A., Takasu, K., Ikehara, S. Hum. Pathol. (2004) [Pubmed]
  3. Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q. Pilarski, R.T., Brothman, A.R., Benn, P., Shulman Rosengren, S. Am. J. Med. Genet. (1999) [Pubmed]
  4. Novel germline APC mutations in Swedish patients with familial adenomatous polyposis and Gardner syndrome. Nilbert, M., Fernebro, J., Kristoffersson, U. Scand. J. Gastroenterol. (2000) [Pubmed]
  5. Subaxolemmal cytoskeleton in squid giant axon. I. Biochemical analysis of microtubules, microfilaments, and their associated high-molecular-weight proteins. Kobayashi, T., Tsukita, S., Tsukita, S., Yamamoto, Y., Matsumoto, G. J. Cell Biol. (1986) [Pubmed]
  6. Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis. Su, L.K., Barnes, C.J., Yao, W., Qi, Y., Lynch, P.M., Steinbach, G. Am. J. Hum. Genet. (2000) [Pubmed]
  7. Protein kinase Calpha activates c-Src and induces podosome formation via AFAP-110. Gatesman, A., Walker, V.G., Baisden, J.M., Weed, S.A., Flynn, D.C. Mol. Cell. Biol. (2004) [Pubmed]
  8. Conversion of mechanical force into biochemical signaling. Han, B., Bai, X.H., Lodyga, M., Xu, J., Yang, B.B., Keshavjee, S., Post, M., Liu, M. J. Biol. Chem. (2004) [Pubmed]
  9. PC phosphorylation increases the ability of AFAP-110 to cross-link actin filaments. Qian, Y., Baisden, J.M., Cherezova, L., Summy, J.M., Guappone-Koay, A., Shi, X., Mast, T., Pustula, J., Zot, H.G., Mazloum, N., Lee, M.Y., Flynn, D.C. Mol. Biol. Cell (2002) [Pubmed]
  10. Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15. Su, L.K., Kohlmann, W., Ward, P.A., Lynch, P.M. Hum. Genet. (2002) [Pubmed]
  11. Ionic targets for drug therapy and atrial fibrillation-induced electrical remodeling: insights from a mathematical model. Courtemanche, M., Ramirez, R.J., Nattel, S. Cardiovasc. Res. (1999) [Pubmed]
  12. Molecular cloning of actin filament-associated protein: a putative adaptor in stretch-induced Src activation. Lodyga, M., Bai, X.H., Mourgeon, E., Han, B., Keshavjee, S., Liu, M. Am. J. Physiol. Lung Cell Mol. Physiol. (2002) [Pubmed]
  13. Cytoskeletal Tension Regulates Both Expression and Degradation of h2-Calponin in Lung Alveolar Cells. Hossain, M.M., Smith, P.G., Wu, K., Jin, J.P. Biochemistry (2006) [Pubmed]
  14. Application of fluorescence difference gel electrophoresis saturation labelling for the analysis of microdissected precursor lesions of pancreatic ductal adenocarcinoma. Sitek, B., Lüttges, J., Marcus, K., Klöppel, G., Schmiegel, W., Meyer, H.E., Hahn, S.A., Stühler, K. Proteomics (2005) [Pubmed]
  15. The intrinsic ability of AFAP-110 to alter actin filament integrity is linked with its ability to also activate cellular tyrosine kinases. Baisden, J.M., Gatesman, A.S., Cherezova, L., Jiang, B.H., Flynn, D.C. Oncogene (2001) [Pubmed]
  16. Attenuated familial adenomatous polyposis presenting as ampullary adenocarcinoma. Trimbath, J.D., Griffin, C., Romans, K., Giardiello, F.M. Gut (2003) [Pubmed]
  17. Ischemia reperfusion-induced dynamic changes of protein tyrosine phosphorylation during human lung transplantation. Keshavjee, S., Zhang, X.M., Fischer, S., Liu, M. Transplantation (2000) [Pubmed]
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