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F8A1  -  coagulation factor VIII-associated 1

Homo sapiens

Synonyms: DXS522E, F8A, HAP40
 
 
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Disease relevance of F8A1

 

Psychiatry related information on F8A1

 

High impact information on F8A1

 

Chemical compound and disease context of F8A1

 

Biological context of F8A1

  • P&Q is specific for 5' and 3' flanking regions of F8A1 respectively [17].
  • HAP40 is encoded by the open reading frame factor VIII-associated gene A (F8A) located within intron 22 of the factor VIII gene [6].
  • In this study, we have identified Htt-associated protein 40 (HAP40) as a novel effector of the small guanosine triphosphatase Rab5, a key regulator of endocytosis [18].
  • A region of intron 22 of the factor VIII gene, which contains factor VIII-associated gene A (F8A), is repeated twice more nearer the Xq telomere [19].
  • The observed heterozygosity for the flanking marker DXS 52 (TaqI/St14 RFLP) in combination with intragenic BclI/F8A polymorphism was 0.94 [20].
 

Anatomical context of F8A1

  • Remarkably, endogenous HAP40 was up-regulated in fibroblasts and brain tissue from human patients affected by Huntington's disease (HD) as well as in STHdhQ(111) striatal cells established from a HD mouse model [18].
  • These cells consistently displayed altered endosome motility and endocytic activity, which was restored by the ablation of HAP40 [18].
  • HAP40 overexpression caused a drastic reduction of early endosomal motility through their displacement from microtubules and preferential association with actin filaments [18].
  • We identified aberrant methylation in the CpG island of SOCS-1 that correlated with its transcription silencing in HCC cell lines [21].
  • We report that CpG island methylation, an epigenetic modification of DNA known to correlate closely with silencing of gene transcription, appears in the oestrogen receptor (ER) gene in a subpopulation of cells which increases as a direct function of age in human colonic mucosa [22].
 

Associations of F8A1 with chemical compounds

 

Physical interactions of F8A1

 

Enzymatic interactions of F8A1

 

Regulatory relationships of F8A1

 

Other interactions of F8A1

  • We investigated the presence of a recombinant event between the F8A gene located in intron 22 of the factor VIII gene and the two additional copies of F8A lying 500 Kb upstream of FVIII in severe hemophilic patients [1].
  • The higher expression of firefly luciferase in the embryonal F9 cells by the use of SCA2 promoter, rather than by the use of CMV promoter may be related with the origin of the nonmethylated CpG island during the early embryogenesis [41].
  • A lod score of 3.61 (theta = 0) was obtained with multipoint linkage analysis of F8A and DXS15 [42].
  • These results indicate that DNMT1 is necessary and sufficient to maintain global methylation and aberrant CpG island methylation in human cancer cells [43].
  • The most studied change of DNA methylation in neoplasms is the silencing of tumor suppressor genes by CpG island promoter hypermethylation, which targets genes such as p16(INK4a), BRCA1, and hMLH1 [44].
 

Analytical, diagnostic and therapeutic context of F8A1

  • DNA from HeA patients and related at-risk women has been analyzed by Southern blotting with two probes: the intragenic F8A and the extragenic St14 [20].
  • The results obtained from a comparative analysis between phenotypic bioassays as the ratio of factor VIII: C clotting activity to factor VIII: C-related antigen, and DNA haplotypes from RFLP's TaqI/St14 and BclI/F8A in 12 hemophilia A (HeA) families are described [20].
  • Here we report the use of RNA expression arrays and CpG-island DNA arrays to identify and characterize human PRC2/3 target genes [45].
  • Isolating human transcription factor targets by coupling chromatin immunoprecipitation and CpG island microarray analysis [46].
  • We describe a new method, MSP (methylation-specific PCR), which can rapidly assess the methylation status of virtually any group of CpG sites within a CpG island, independent of the use of methylation-sensitive restriction enzymes [47].

References

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  2. CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer. Weisenberger, D.J., Siegmund, K.D., Campan, M., Young, J., Long, T.I., Faasse, M.A., Kang, G.H., Widschwendter, M., Weener, D., Buchanan, D., Koh, H., Simms, L., Barker, M., Leggett, B., Levine, J., Kim, M., French, A.J., Thibodeau, S.N., Jass, J., Haile, R., Laird, P.W. Nat. Genet. (2006) [Pubmed]
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  16. Shared epigenetic mechanisms in human and mouse gliomas inactivate expression of the growth suppressor SLC5A8. Hong, C., Maunakea, A., Jun, P., Bollen, A.W., Hodgson, J.G., Goldenberg, D.D., Weiss, W.A., Costello, J.F. Cancer Res. (2005) [Pubmed]
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  18. Huntingtin-HAP40 complex is a novel Rab5 effector that regulates early endosome motility and is up-regulated in Huntington's disease. Pal, A., Severin, F., Lommer, B., Shevchenko, A., Zerial, M. J. Cell Biol. (2006) [Pubmed]
  19. Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions. Naylor, J.A., Buck, D., Green, P., Williamson, H., Bentley, D., Giannelli, F. Hum. Mol. Genet. (1995) [Pubmed]
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  21. SOCS-1, a negative regulator of the JAK/STAT pathway, is silenced by methylation in human hepatocellular carcinoma and shows growth-suppression activity. Yoshikawa, H., Matsubara, K., Qian, G.S., Jackson, P., Groopman, J.D., Manning, J.E., Harris, C.C., Herman, J.G. Nat. Genet. (2001) [Pubmed]
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