Alternative titles; symbols
HGNC Approved Gene Symbol: SF1
Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:64,764,606-64,778,542 (from NCBI)
Toda et al. (1994) isolated a gene, designated ZFM1 by them, from cosmids from the MEN1 locus (131100) region of 11q13 using exon amplification. They then obtained cDNAs from cerebral, cerebellar, and fetal liver libraries. The predicted 623-amino acid protein contains a nuclear transport domain, a metal-binding or zinc finger motif, and glutamine- and proline-rich regions. It shows some sequence similarity to WT1 (607102) and EGR2 (129010). RT-PCR was used to show expression in the thyroid gland, pancreas, adrenal gland, and ovary.
By differential screening of a cDNA library obtained from GMCSF (138960)-stimulated human myeloid leukemia cells, Caslini et al. (1997) cloned 2 additional isoforms of the ZNF162 gene, designated B3 and B4, that encode 571- and 639-amino acid proteins, respectively. All of the ZNF162 isoforms contain a KH domain, a sequence motif present in proteins playing a major role in regulating cellular RNA metabolism.
Kramer et al. (1998) determined the genomic structure of the ZNF162 gene, which they called SF1. The gene contains 14 exons and spans approximately 15 kb. Analysis of the ZNF162 genomic cDNA sequences predicted the use of duplicated 5-prime and 3-prime splice sites as well as exon skipping and intron inclusion to generate 6 ZNF162 mRNAs by alternative splicing events.
Using exon amplification, Toda et al. (1994) isolated the SF1 gene from cosmids from the MEN1 region of 11q13.
Courseaux et al. (1996) used a combination of methods to refine the maps of the approximately 5-Mb region of 11q13 that includes MEN1. They proposed the following gene order: cen--PTA--FTH1--UGB--AHNAK--ROM1--MDU1--CHRM1--COX8--EMK1--FKBP2--PLCB3--[PYGM, ZFM1]--FAU--CAPN1--[MLK3, RELA]--FOSL1--SEA--CFL1--tel.
Caslini, C., Spinelli, O., Cazzaniga, G., Golay, J., De Gioia, L., Pedretti, A., Breviario, F., Amaru, R., Barbui, T., Biondi, A., Introna, M., Rambaldi, A. Identification of two novel isoforms of the ZNF162 gene: a growing family of signal transduction and activator of RNA proteins. Genomics 42: 268-277, 1997. [PubMed: 9192847] [Full Text: https://doi.org/10.1006/geno.1997.4705]
Courseaux, A., Grosgeorge, J., Gaudray, P., Pannett, A. A. J., Forbes, S. A., Williamson, C., Bassett, D., Thakker, R. V., Teh, B. T., Farnebo, F., Shepherd, J., Skogseid, B., Larsson, C., Giraud, S., Zhang, C. X., Salandre, J., Calender, A. Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13. Genomics 37: 354-365, 1996. [PubMed: 8938448]
Kramer, A., Quentin, M., Mulhauser, F. Diverse modes of alternative splicing of human splicing factor SF1 deduced from the exon-intron structure of the gene. Gene 211: 29-37, 1998. [PubMed: 9573336] [Full Text: https://doi.org/10.1016/s0378-1119(98)00058-4]
Toda, T., Iida, A., Miwa, T., Nakamura, Y., Imai, T. Isolation and characterization of a novel gene encoding nuclear protein at a locus (D11S636) tightly linked to multiple endocrine neoplasia type 1 (MEN1). Hum. Molec. Genet. 3: 465-470, 1994. [PubMed: 7912130] [Full Text: https://doi.org/10.1093/hmg/3.3.465]