| 释义 |
- Function
- Clinical significance
- Model organisms
- References
- Further reading
{{Underlinked|date=March 2014}}{{Infobox_gene}}Phosphoserine phosphatase is an enzyme that in humans is encoded by the PSPH gene.[1][2][3] Function 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.[3] Clinical significance Homozygous or compound heterozygous mutations in PSPH cause Neu-Laxova syndrome[4] and Phosphoserine phosphatase deficiency.[5][6] Model organisms Model organisms have been used in the study of PSPH function. A conditional knockout mouse line called Psphtm1a(EUCOMM)Hmgu was generated at the Wellcome Trust Sanger Institute.[7] Male and female animals underwent a standardized phenotypic screen[8] to determine the effects of deletion.[9][10][11][12] Additional screens performed: - In-depth immunological phenotyping[13] Psph knockout mouse phenotype| Characteristic | Phenotype |
|---|
| All data available at.[8][13] | | Peripheral blood leukocytes 6 Weeks | Normal | | Insulin | Normal | | Haematology 6 Weeks | Normal | | Homozygous viability at P14 | Abnormal | | Recessive lethal study | Abnormal | | Body weight | Normal | | Neurological assessment | Normal | | Grip strength | Normal | | Dysmorphology | Normal | | Indirect calorimetry | Normal | | Glucose tolerance test | Normal | | DEXA | Normal | | Radiography | Normal | | Eye morphology | Normal | | Clinical chemistry | Normal | | Haematology 16 Weeks | Normal | | Peripheral blood leukocytes 16 Weeks | Normal | | Heart weight | Normal | | Salmonella infection | Normal | | Cytotoxic T Cell Function | Normal | | Spleen Immunophenotyping | Normal | | Mesenteric Lymph Node Immunophenotyping | Normal | | Bone Marrow Immunophenotyping | Normal | | Epidermal Immune Composition | Normal | | Influenza Challenge | Normal | |
{{clear|left}} References 1. ^{{cite journal | vauthors = Koch GA, Eddy RL, Haley LL, Byers MG, McAvoy M, Shows TB | title = Assignment of the human phosphoserine phosphatase gene (PSP) to the pter leads to q22 region of chromosome 7 | journal = Cytogenetics and Cell Genetics | volume = 35 | issue = 1 | pages = 67–9 | date = Apr 1983 | pmid = 6297854 | pmc = | doi = 10.1159/000131839 }}
2. ^{{cite journal | vauthors = Collet JF, Gerin I, Rider MH, Veiga-da-Cunha M, Van Schaftingen E | title = Human L-3-phosphoserine phosphatase: sequence, expression and evidence for a phosphoenzyme intermediate | journal = FEBS Letters | volume = 408 | issue = 3 | pages = 281–4 | date = May 1997 | pmid = 9188776 | pmc = | doi = 10.1016/S0014-5793(97)00438-9 }}
3. ^1 {{cite web | title = Entrez Gene: PSPH phosphoserine phosphatase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5723| accessdate = }}
4. ^{{cite journal | vauthors = Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M | title = Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway | journal = American Journal of Human Genetics | volume = 95 | issue = 3 | pages = 285–93 | date = Sep 2014 | pmid = 25152457 | doi = 10.1016/j.ajhg.2014.07.012 | url = http://www.cell.com/ajhg/abstract/S0002-9297(14)00321-8 | pmc=4157144}}
5. ^{{cite journal | vauthors = Veiga-da-Cunha M, Collet JF, Prieur B, Jaeken J, Peeraer Y, Rabbijns A, Van Schaftingen E | title = Mutations responsible for 3-phosphoserine phosphatase deficiency | journal = European Journal of Human Genetics | volume = 12 | issue = 2 | pages = 163–6 | date = Feb 2004 | pmid = 14673469 | doi = 10.1038/sj.ejhg.5201083 | url = http://www.nature.com/ejhg/journal/v12/n2/full/5201083a.html }}
6. ^{{cite journal | vauthors = Jaeken J, Detheux M, Fryns JP, Collet JF, Alliet P, Van Schaftingen E | title = Phosphoserine phosphatase deficiency in a patient with Williams syndrome | journal = Journal of Medical Genetics | volume = 34 | issue = 7 | pages = 594–6 | date = Jul 1997 | pmid = 9222972 | pmc = 1051004 | doi = 10.1136/jmg.34.7.594 | url = http://jmg.bmj.com/content/34/7/594.long }}
7. ^{{cite journal |title=The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice |author=Gerdin AK |year=2010 |journal=Acta Ophthalmologica|volume=88 |pages=925–7|doi=10.1111/j.1755-3768.2010.4142.x }}
8. ^1 {{cite web |url=http://www.mousephenotype.org/data/search?q=Psph#fq=**&facet=gene |title=International Mouse Phenotyping Consortium}}
9. ^{{cite journal | vauthors = Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–42 | date = Jun 2011 | pmid = 21677750 | pmc = 3572410 | doi = 10.1038/nature10163 }}
10. ^{{cite journal | vauthors = Dolgin E | title = Mouse library set to be knockout | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | date = Jun 2011 | pmid = 21677718 | doi = 10.1038/474262a }}
11. ^{{cite journal | vauthors = Collins FS, Rossant J, Wurst W | title = A mouse for all reasons | journal = Cell | volume = 128 | issue = 1 | pages = 9–13 | date = Jan 2007 | pmid = 17218247 | doi = 10.1016/j.cell.2006.12.018 }}
12. ^{{cite journal | vauthors = White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP | title = Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes | journal = Cell | volume = 154 | issue = 2 | pages = 452–64 | date = Jul 2013 | pmid = 23870131 | doi = 10.1016/j.cell.2013.06.022 | pmc=3717207}}
13. ^1 {{cite web |url= http://www.immunophenotyping.org/data/search?keys=Psph&field_gene_construct_tid=All |title=Infection and Immunity Immunophenotyping (3i) Consortium}}
Further reading {{refbegin | 2}}- {{cite journal | vauthors = Minelli A, Piantanida M, Maserati E, Campagnoli E, Pasquali F, Danesino C | title = Gene dosage effect in acquired monosomy 7: distinct behaviour of beta-glucuronidase and phosphoserine phosphatase | journal = Genes, Chromosomes & Cancer | volume = 1 | issue = 3 | pages = 216–20 | date = Jan 1990 | pmid = 1964582 | doi = 10.1002/gcc.2870010305 }}
- {{cite journal | vauthors = Shetty KT | title = Phosphoserine phosphatase of human brain: partial purification, characterization, regional distribution, and effect of certain modulators including psychoactive drugs | journal = Neurochemical Research | volume = 15 | issue = 12 | pages = 1203–10 | date = Dec 1990 | pmid = 1965857 | doi = 10.1007/BF01208581 }}
- {{cite journal | vauthors = Novelli G, Dallapiccola B | title = Gene dosage studies regionally assign the phosphoserine phosphatase gene to 7p15.1 or 2 | journal = Annales de Génétique | volume = 31 | issue = 3 | pages = 195–6 | year = 1989 | pmid = 2851960 | doi = }}
- {{cite journal | vauthors = Moro-Furlani AM, Turner VS, Hopkinson DA | title = Genetical and biochemical studies on human phosphoserine phosphatase | journal = Annals of Human Genetics | volume = 43 | issue = 4 | pages = 323–33 | date = May 1980 | pmid = 6249179 | doi = 10.1111/j.1469-1809.1980.tb01566.x }}
- {{cite journal | vauthors = Sparkes RS, Mohandas T, Sparkes MC | title = The human phosphoserine phosphatase gene (PSP) is mapped to chromosome 7 by somatic cell genetic analysis | journal = Cytogenetics and Cell Genetics | volume = 35 | issue = 1 | pages = 70–1 | year = 1983 | pmid = 6297855 | doi = 10.1159/000131840 }}
- {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1-2 | pages = 171–4 | date = Jan 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
- {{cite journal | vauthors = Jaeken J, Detheux M, Fryns JP, Collet JF, Alliet P, Van Schaftingen E | title = Phosphoserine phosphatase deficiency in a patient with Williams syndrome | journal = Journal of Medical Genetics | volume = 34 | issue = 7 | pages = 594–6 | date = Jul 1997 | pmid = 9222972 | pmc = 1051004 | doi = 10.1136/jmg.34.7.594 }}
- {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1-2 | pages = 149–56 | date = Oct 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
- {{cite journal | vauthors = Collet JF, Stroobant V, Pirard M, Delpierre G, Van Schaftingen E | title = A new class of phosphotransferases phosphorylated on an aspartate residue in an amino-terminal DXDX(T/V) motif | journal = The Journal of Biological Chemistry | volume = 273 | issue = 23 | pages = 14107–12 | date = Jun 1998 | pmid = 9603909 | doi = 10.1074/jbc.273.23.14107 }}
- {{cite journal | vauthors = Collet JF, Stroobant V, Van Schaftingen E | title = Mechanistic studies of phosphoserine phosphatase, an enzyme related to P-type ATPases | journal = The Journal of Biological Chemistry | volume = 274 | issue = 48 | pages = 33985–90 | date = Nov 1999 | pmid = 10567362 | doi = 10.1074/jbc.274.48.33985 }}
- {{cite journal | vauthors = Peeraer Y, Rabijns A, Verboven C, Collet JF, Van Schaftingen E, De Ranter C | title = Purification, crystallization and preliminary X-ray diffraction analysis of human phosphoserine phosphatase | journal = Acta Crystallographica Section D | volume = 58 | issue = Pt 1 | pages = 133–4 | date = Jan 2002 | pmid = 11752790 | doi = 10.1107/S0907444901017310 }}
- {{cite journal | vauthors = Kim HY, Heo YS, Kim JH, Park MH, Moon J, Kim E, Kwon D, Yoon J, Shin D, Jeong EJ, Park SY, Lee TG, Jeon YH, Ro S, Cho JM, Hwang KY | title = Molecular basis for the local conformational rearrangement of human phosphoserine phosphatase | journal = The Journal of Biological Chemistry | volume = 277 | issue = 48 | pages = 46651–8 | date = Nov 2002 | pmid = 12213811 | doi = 10.1074/jbc.M204866200 }}
- {{cite journal | vauthors = Veiga-da-Cunha M, Collet JF, Prieur B, Jaeken J, Peeraer Y, Rabbijns A, Van Schaftingen E | title = Mutations responsible for 3-phosphoserine phosphatase deficiency | journal = European Journal of Human Genetics | volume = 12 | issue = 2 | pages = 163–6 | date = Feb 2004 | pmid = 14673469 | doi = 10.1038/sj.ejhg.5201083 }}
- {{cite journal | vauthors = Peeraer Y, Rabijns A, Collet JF, Van Schaftingen E, De Ranter C | title = How calcium inhibits the magnesium-dependent enzyme human phosphoserine phosphatase | journal = European Journal of Biochemistry / FEBS | volume = 271 | issue = 16 | pages = 3421–7 | date = Aug 2004 | pmid = 15291819 | doi = 10.1111/j.0014-2956.2004.04277.x }}
- {{cite journal | vauthors = Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D | title = Large-scale mapping of human protein-protein interactions by mass spectrometry | journal = Molecular Systems Biology | volume = 3 | issue = 1 | pages = 89 | year = 2007 | pmid = 17353931 | pmc = 1847948 | doi = 10.1038/msb4100134 }}
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