Recombinant human Multiple inositol polyphosphate phosphatase 1 (MINPP1)

Function

Multiple inositol polyphosphate phosphatase that hydrolyzes 1D-myo-inositol 1,3,4,5,6-pentakisphosphate (InsP5[2OH]) and 1D-myo-inositol hexakisphosphate (InsP6) to a range of less phosphorylated inositol phosphates. This regulates the availability of these various small molecule second messengers and metal chelators which control many aspects of cell physiology (PubMed:33257696, PubMed:36589890). Has a weak in vitro activity towards 1D-myo-inositol 1,4,5-trisphosphate which is unlikely to be physiologically relevant (PubMed:36589890). By regulating intracellular inositol polyphosphates pools, which act as metal chelators, it may control the availability of intracellular calcium and iron, which are important for proper neuronal development and homeostasis (PubMed:33257696). May have a dual substrate specificity, and function as a 2,3-bisphosphoglycerate 3-phosphatase hydrolyzing 2,3-bisphosphoglycerate to 2-phosphoglycerate. 2,3-bisphosphoglycerate (BPG) is formed as part of the Rapoport-Luebering glycolytic bypass and is a regulator of systemic oxygen homeostasis as the major allosteric effector of hemoglobin (PubMed:18413611)

Subcellular Location

Endoplasmic reticulum lumen; Secreted; Cell membrane

Disease Association

Thyroid cancer, non-medullary, 2 (NMTC2) : A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. [Disease susceptibility is associated with variants affecting the gene represented in this entry] | Pontocerebellar hypoplasia 16 (PCH16) : A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH16 is an autosomal recessive, severe form characterized by hypotonia and severe global developmental delay apparent from early infancy. Other features may include stereotypic movements, spasticity, and progressive microcephaly. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Widely expressed with highest levels in kidney, liver, cerebellum and placenta

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• Chi H. et al. Multiple inositol polyphosphate phosphatase: evolution as a distinct group within the histidine phosphatase family and chromosomal localization of the human and mouse genes to chromosomes 10q23 and 19. — Genomics (1999)
• Wiemann S. et al. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. — Genome Res. (2001)
• Clark H.F. et al. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. — Genome Res. (2003)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Totoki Y. et al. PubMed: CI-6FM9UGIHPC7GG (MAR-)
• Deloukas P. et al. The DNA sequence and comparative analysis of human chromosome 10. — Nature (2004)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)