Alternative titles; symbols
HGNC Approved Gene Symbol: HIVEP1
Cytogenetic location: 6p24.1 Genomic coordinates (GRCh38): 6:12,007,693-12,212,048 (from NCBI)
Members of the ZAS family, such as ZAS1 (HIVEP1), are large proteins that contain a ZAS domain, a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specific DNA sequences, including the kappa-B motif (GGGACTTTCC), in the promoters and enhancer regions of several genes and viruses, including human immunodeficiency virus (HIV). ZAS genes span more than 150 kb and contain at least 10 exons, one of which is longer than 5.5 kb (Allen and Wu, 2005).
The sequence GGGACTTTCC is found in the enhancer elements of numerous viral promoters, including those of simian virus 40 (SV40), cytomegalovirus (CMV), and HIV. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I major histocompatibility gene complex (142800), the kappa immunoglobulin gene (147200), the interleukin-2 receptor gene (147730), and the interferon-beta gene (147640). Mutagenesis of these enhancer elements has indicated their role in the transcriptional regulation of both viral and cellular genes. ZNF40, a protein that binds to these sequences, has a molecular mass of 298 kD and contains 2 widely separated zinc finger binding domains, each of which binds to the same DNA sequence. This protein has variously been known as HIVEP1, MBP1, and PRDII-BF1 (Gaynor et al., 1991).
By Southern analysis of a panel of mouse/human somatic cell hybrid DNAs and by in situ hybridization, Gaynor et al. (1991) mapped the HIVEP1 gene to chromosome 6p24-p22.3. In the course of fine mapping of 39 ESTs on 6p24-p23, Olavesen et al. (1997) confirmed the assignment of ZNF40 to this region.
For discussion of a possible association between variation in the HIVEP1 gene and susceptibility to venous thrombosis, see 188050.
Allen, C. E., Wu, L.-C. ZAS zinc finger proteins: the other kappa-B-binding protein family.In: Iuchi, S; Kuldell, N. (eds.) : Zinc Finger Proteins: From Atomic Contact to Cellular Function. Georgetown, Tex.: Landes Bioscience 2005. Pp. 213-220.
Gaynor, R. B., Muchardt, C., Diep, A., Mohandas, T. K., Sparkes, R. S., Lusis, A. J. Localization of the zinc finger DNA-binding protein HIV-EP1/MBP-1/PRDII-BF1 to human chromosome 6p22.3-p24. Genomics 9: 758-761, 1991. [PubMed: 2037300] [Full Text: https://doi.org/10.1016/0888-7543(91)90371-k]
Olavesen, M. G., Bentley, E., Mason, R. V. F., Stephens, R. J., Ragoussis, J. Fine mapping of 39 ESTs on human chromosome 6p23-p25. Genomics 46: 303-306, 1997. [PubMed: 9417921] [Full Text: https://doi.org/10.1006/geno.1997.5032]