HGNC Approved Gene Symbol: INPP5B
Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:37,860,697-37,947,057 (from NCBI)
The 75-kD inositol polyphosphate-5-phosphatase enzyme was originally isolated from human platelets and cloned from human megakaryocytic and placental cDNA libraries (Ross et al., 1991). It is one of at least 3 enzymes known to catalyze the conversion of inositol-1,4,5-trisphosphate (IP3) to inositol-1,4-bisphosphate (IP2). Three enzymes with this activity were identified: a 45-kD polypeptide, a 75-kD polypeptide, and a 120-kD polypeptide.
By fluorescence in situ hybridization, Janne et al. (1994) found that the INPP5B gene is located on chromosome 1p34. The result was corroborated by Southern blot analysis of rodent/human hybrids containing portions of chromosome 1.
Janne et al. (1995) determined that the mouse Inpp5b gene is located on distal mouse chromosome 4 within the conserved linkage group corresponding to human 1p. The gene is in the vicinity of the mouse developmental mutation 'dysgenetic lens' (dyl); however, using a genetic approach, Janne et al. (1995) showed that Inpp5b maps distal to dyl on mouse chromosome 4.
Janne, P. A., Dutra, A. S., Dracopoli, N. C., Charnas, L. R., Puck, J. M., Nussbaum, R. L. Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34. Cytogenet. Cell Genet. 66: 164-166, 1994. [PubMed: 8125013] [Full Text: https://doi.org/10.1159/000133691]
Janne, P. A., Rochelle, J. M., Martin-DeLeon, P. A., Stambolian, D., Seldin, M. F., Nussbaum, R. L. Mapping of the 75-kDa inositol polyphosphate-5-phosphatase (Inpp5b) to distal mouse chromosome 4 and its exclusion as a candidate gene for dysgenetic lens. Genomics 28: 280-285, 1995. [PubMed: 8530037] [Full Text: https://doi.org/10.1006/geno.1995.1142]
Ross, T. S., Jefferson, A. B., Mitchell, C. A., Majerus, P. W. Cloning and expression of human 75-kDa inositol polyphosphate-5-phosphatase. J. Biol. Chem. 266: 20283-20289, 1991. [PubMed: 1718960]