Alternative titles; symbols
HGNC Approved Gene Symbol: PIP5K1B
Cytogenetic location: 9q21.11 Genomic coordinates (GRCh38): 9:68,705,240-69,009,176 (from NCBI)
Carvajal et al. (1995) reported the isolation of a gene from the region of the genome associated with Friedreich ataxia (FRDA; 229300). Expression was found to be complex, with multiple transcripts detected in a variety of tissues and evidence of alternative splicing and developmental control. The predicted amino acid sequence for the 2.7-kb transcript showed a marked homology to the deduced amino acid sequence of the MSS4 protein of Saccharomyces cerevisiae, which had been proposed to function in the phosphoinositide cycle, thus suggesting a potential role for the human homolog in signal transduction. Although no evidence of mutation was detected in the transcript, the sequence (which they designated STM7.I) represented only one of the shorter alternatively spliced species identified by Northern analysis and direct sequencing.
Carvajal et al. (1996) reported that the X25 gene (FXN; 606829) described by Campuzano et al. (1996) and shown to be associated with mutations in FRDA patients comprises part of a gene that they had previously identified and named STM7. They reported that the transcription of both STM7 and X25 occurs from the centromere toward the telomere, that the reported sequences of STM7 and X25 did not represent a full-length transcript, that multiple transcripts for each of these genes are present in Northern blots, and that several of these transcripts are of similar size. Carvajal et al. (1996) also reported that less than 10 kb separates the CpG island identified in the X25/exon 1 from the 3-prime end of STM7/exon 16. They further demonstrated that the recombinant protein corresponding to the STM7.1 transcript has phosphatidylinositol 4-phosphate 5-kinase activity. See 606829 for further discussion of the relationship between STM7 and FRDA.
Pook et al. (1997) reported that the STM7 gene contains 17 exons and spans more than 300 kb. The seventeenth exon was found by RT-PCR, and was derived from the 3-prime untranslated region of the PRKACG gene (176893), which is located on 9q13 approximately 3 kb downstream of the STM7.I 3-prime untranslated region.
Fan et al. (2016) stated that the FAM122A gene (617249) is located within intron 1 of the PIP5K1B gene.
Gross (2012) mapped the PIP5K1B gene to chromosome 9q21.11 based on an alignment of the PIP5K1B sequence (GenBank AK292734) with the genomic sequence (GRCh37).
Using deletion mutant analysis, Ishihara et al. (1998) identified an approximately 380-amino acid minimal core sequence of mouse Pip5k1b that was sufficient for phosphatidylinositol 4-phosphate kinase activity. Overexpression of mouse Pip5k1b in COS-7 cells induced an increase in short actin fibers and a decrease in actin stress fibers.
Campuzano, V., Montermini, L., Molto, M. D., Pianese, L., Cossee, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., Zara, F., Canizares, J., and 15 others. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271: 1423-1427, 1996. [PubMed: 8596916] [Full Text: https://doi.org/10.1126/science.271.5254.1423]
Carvajal, J. J., Pook, M. A., dos Santos, M., Doudney, K., Hillermann, R., Minogue, S., Williamson, R., Hsuan, J. J., Chamberlain, S. The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase. Nature Genet. 14: 157-162, 1996. [PubMed: 8841185] [Full Text: https://doi.org/10.1038/ng1096-157]
Carvajal, J. J., Pook, M. A., Doudney, K., Hillermann, R., Wilkes, D., Al-Mahdawi, S., Williamson, R., Chamberlain, S. Friedreich's ataxia: a defect in signal transduction? Hum. Molec. Genet. 4: 1411-1419, 1995. [PubMed: 7581382] [Full Text: https://doi.org/10.1093/hmg/4.8.1411]
Fan, L., Liu, M.-H., Guo, M., Hu, C.-X., Yan, Z.-W., Chen, J., Chen, G.-Q., Huang, Y. FAM122A, a new endogenous inhibitor of protein phosphatase 2A. Oncotarget 7: 63887-63900, 2016. [PubMed: 27588481] [Full Text: https://doi.org/10.18632/oncotarget.11698]
Gross, M. B. Personal Communication. Baltimore, Md. 6/26/2012.
Ishihara, H., Shibasaki, Y., Kizuki, N., Wada, T., Yazaki, Y., Asano, T., Oka, Y. Type I phosphatidylinositol-4-phosphate 5-kinases: cloning of the third isoform and deletion/substitution analysis of members of this novel lipid kinase family. J. Biol. Chem. 273: 8741-8748, 1998. [PubMed: 9535851] [Full Text: https://doi.org/10.1074/jbc.273.15.8741]
Pook, M. A., Carvajal, J. J, Doudney, K., Hillermann, R., Chamberlain, S. Exon-intron structure of a 2.7-kb transcript of the STM7 gene with phosphatidylinositol-4-phosphate 5-kinase activity. Genomics 42: 170-172, 1997. [PubMed: 9177790] [Full Text: https://doi.org/10.1006/geno.1997.4726]