PSPH
| Phosphoserine phosphatase | |||||||||||||
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File:PBB Protein PSPH image.jpg PDB rendering based on 1l8l. | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | PSPH ; PSP | ||||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 31245 | ||||||||||||
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| RNA expression pattern | |||||||||||||
| File:PBB GE PSPH 205048 s at tn.png | |||||||||||||
| File:PBB GE PSPH 205194 at tn.png | |||||||||||||
| File:PBB GE PSPH gnf1h09519 s at tn.png | |||||||||||||
| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Template:GNF Ortholog box | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | n/a | n/a | |||||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||||
| RefSeq (protein) | n/a | n/a | |||||||||||
| Location (UCSC) | n/a | n/a | |||||||||||
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Phosphoserine phosphatase, also known as PSPH, is a human gene.[1]
The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome.[1]
References
Further reading
- Minelli A, Piantanida M, Maserati E; et al. (1991). "Gene dosage effect in acquired monosomy 7: distinct behaviour of beta-glucuronidase and phosphoserine phosphatase". Genes Chromosomes Cancer. 1 (3): 216–20. PMID 1964582.
- Veeranna , Shetty KT (1991). "Phosphoserine phosphatase of human brain: partial purification, characterization, regional distribution, and effect of certain modulators including psychoactive drugs". Neurochem. Res. 15 (12): 1203–10. PMID 1965857.
- Novelli G, Dallapiccola B (1989). "Gene dosage studies regionally assign the phosphoserine phosphatase gene to 7p15.1 or 2". Ann. Genet. 31 (3): 195–6. PMID 2851960.
- Moro-Furlani AM, Turner VS, Hopkinson DA (1980). "Genetical and biochemical studies on human phosphoserine phosphatase". Ann. Hum. Genet. 43 (4): 323–33. PMID 6249179.
- Koch GA, Eddy RL, Haley LL; et al. (1983). "Assignment of the human phosphoserine phosphatase gene (PSP) to the pter leads to q22 region of chromosome 7". Cytogenet. Cell Genet. 35 (1): 67–9. PMID 6297854.
- Sparkes RS, Mohandas T, Sparkes MC (1983). "The human phosphoserine phosphatase gene (PSP) is mapped to chromosome 7 by somatic cell genetic analysis". Cytogenet. Cell Genet. 35 (1): 70–1. PMID 6297855.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
- Collet JF, Gerin I, Rider MH; et al. (1997). "Human L-3-phosphoserine phosphatase: sequence, expression and evidence for a phosphoenzyme intermediate". FEBS Lett. 408 (3): 281–4. PMID 9188776.
- Jaeken J, Detheux M, Fryns JP; et al. (1997). "Phosphoserine phosphatase deficiency in a patient with Williams syndrome". J. Med. Genet. 34 (7): 594–6. PMID 9222972.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.
- Collet JF, Stroobant V, Pirard M; et al. (1998). "A new class of phosphotransferases phosphorylated on an aspartate residue in an amino-terminal DXDX(T/V) motif". J. Biol. Chem. 273 (23): 14107–12. PMID 9603909.
- Collet JF, Stroobant V, Van Schaftingen E (1999). "Mechanistic studies of phosphoserine phosphatase, an enzyme related to P-type ATPases". J. Biol. Chem. 274 (48): 33985–90. PMID 10567362.
- Peeraer Y, Rabijns A, Verboven C; et al. (2002). "Purification, crystallization and preliminary X-ray diffraction analysis of human phosphoserine phosphatase". Acta Crystallogr. D Biol. Crystallogr. 58 (Pt 1): 133–4. PMID 11752790.
- Kim HY, Heo YS, Kim JH; et al. (2003). "Molecular basis for the local conformational rearrangement of human phosphoserine phosphatase". J. Biol. Chem. 277 (48): 46651–8. doi:10.1074/jbc.M204866200. PMID 12213811.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Veiga-da-Cunha M, Collet JF, Prieur B; et al. (2004). "Mutations responsible for 3-phosphoserine phosphatase deficiency". Eur. J. Hum. Genet. 12 (2): 163–6. doi:10.1038/sj.ejhg.5201083. PMID 14673469.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Peeraer Y, Rabijns A, Collet JF; et al. (2004). "How calcium inhibits the magnesium-dependent enzyme human phosphoserine phosphatase". Eur. J. Biochem. 271 (16): 3421–7. doi:10.1111/j.0014-2956.2004.04277.x. PMID 15291819.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Ewing RM, Chu P, Elisma F; et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3: 89. doi:10.1038/msb4100134. PMID 17353931.
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