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Gene Review

VBP1  -  von Hippel-Lindau binding protein 1

Homo sapiens

Synonyms: HIBBJ46, PFD3, PFDN3, Prefoldin subunit 3, VBP-1, ...
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Disease relevance of VBP1

  • Moreover, expression of the human VBP1 gene was investigated in cerebellum and in various tumours of VHL patients encompassinghaemangioblastomas, renal cell carcinomas and pheochromocytomas [1].
  • The messenger RNA (mRNA) from 5 of 69 patients with severe hemophilia A did not support amplification of complementary DNA containing the first few exons of the factor VIII (F8) gene but supported amplification of mRNA containing exon 1 of F8 plus exons of the VBP1 gene [2].

High impact information on VBP1

  • In later stage placentas, Vbp1 expression was, however, considerably reduced [1].
  • In fetal stages between days 9 and 18 of gestation, Vbp1 was expressed mainly in the central nervous system, retina and liver [1].
  • Three-hybrid analysis suggested that VBP1 could compete with hMSH5 for the binding of hMSH4 [3].
  • As a step forward to the understanding of the molecular mechanisms underlying the roles of these two mammalian MutS homologues, here we have identified von Hippel-Lindau (VHL) tumor suppressor-binding protein 1 (VBP1) as an interacting protein partner for human MSH4 (hMSH4) [3].
  • Thus, elongin C and VBP-1 require the C-terminal end of pVHL for binding [4].

Biological context of VBP1


Anatomical context of VBP1


Other interactions of VBP1

  • The protein encoded by hMSH4sv was unable to interact with hMSH5, but it retained the capacity to interact with VBP1 [3].
  • A further VHL-binding protein of unknown function, VBP1, fails to bind to truncated forms of VHL [8].

Analytical, diagnostic and therapeutic context of VBP1


  1. Expression of the von Hippel-Lindau-binding protein-1 (Vbp1) in fetal and adult mouse tissues. Hemberger, M., Himmelbauer, H., Neumann, H.P., Plate, K.H., Schwarzkopf, G., Fundele, R. Hum. Mol. Genet. (1999) [Pubmed]
  2. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Bagnall, R.D., Waseem, N., Green, P.M., Giannelli, F. Blood (2002) [Pubmed]
  3. Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor suppressor-binding protein 1. Her, C., Wu, X., Griswold, M.D., Zhou, F. Cancer Res. (2003) [Pubmed]
  4. Identification of a novel protein (VBP-1) binding to the von Hippel-Lindau (VHL) tumor suppressor gene product. Tsuchiya, H., Iseda, T., Hino, O. Cancer Res. (1996) [Pubmed]
  5. Characterization of the gene (VBP1) and transcript for the von Hippel-Lindau binding protein and isolation of the highly conserved murine homologue. Brinke, A., Green, P.M., Giannelli, F. Genomics (1997) [Pubmed]
  6. Comparative sequence analysis of the VHL tumor suppressor gene. Woodward, E.R., Buchberger, A., Clifford, S.C., Hurst, L.D., Affara, N.A., Maher, E.R. Genomics (2000) [Pubmed]
  7. VBP-1 is necessary for morphogenesis in Caenorhabditis elegans. Ichimiya, H., Hino, O., Kohara, Y., Ishii, N. Oncol. Rep. (2003) [Pubmed]
  8. Genomic organization and chromosomal localization of the human CUL2 gene and the role of von Hippel-Lindau tumor suppressor-binding protein (CUL2 and VBP1) mutation and loss in renal-cell carcinoma development. Clifford, S.C., Walsh, S., Hewson, K., Green, E.K., Brinke, A., Green, P.M., Gianelli, F., Eng, C., Maher, E.R. Genes Chromosomes Cancer (1999) [Pubmed]
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