PSPH

PSPH
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1L8L, 1L8O, 1NNL
Identifiers
Aliases	PSPH , PSP, PSPHD, phosphoserine phosphatase
External IDs	OMIM: 172480; MGI: 97788; HomoloGene: 31245; GeneCards: PSPH; OMA:PSPH - orthologs
Gene location (Human) Chr. Chromosome 7 (human) [1] Band 7p11.2 Start 56,011,051 bp [1] End 56,051,604 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5|5 G1.3 Start 129,842,622 bp [2] End 129,864,513 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube stromal cell of endometrium C1 segment ventricular zone right adrenal cortex gonad muscle of thigh nucleus accumbens prefrontal cortex caudate nucleus Top expressed in seminal vesicula yolk sac lip skin of external ear calvaria ventricular zone endothelial cell of lymphatic vessel medial ganglionic eminence vestibular sensory epithelium epidermis More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding protein homodimerization activity metal ion binding hydrolase activity magnesium ion binding phosphatase activity Cellular component cytosol neuron projection cytoplasm Biological process response to testosterone response to mechanical stimulus response to nutrient levels L-serine metabolic process cellular amino acid biosynthetic process dephosphorylation L-serine biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5723 100678 Ensembl ENSG00000146733 ENSMUSG00000029446 UniProt P78330 Q99LS3 RefSeq (mRNA) NM_004577 NM_133900 RefSeq (protein) NP_004568 NP_001357432 NP_001357433 NP_001357434 NP_001357435 NP_001357436 NP_001357437 NP_001357438 NP_001357439 NP_001357440 NP_001357441 NP_001357442 NP_001357443 NP_001357444 NP_001357445 NP_001357446 NP_001357447 NP_001357448 NP_001357449 NP_001357450 NP_001357451 NP_598661 Location (UCSC) Chr 7: 56.01 – 56.05 Mb Chr 5: 129.84 – 129.86 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Phosphoserine phosphatase is an enzyme that in humans is encoded by the PSPH gene. ^{[5] [6] [7]}

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. ^[7]

Clinical significance

Homozygous or compound heterozygous mutations in PSPH cause Neu–Laxova syndrome ^[8] and Phosphoserine phosphatase deficiency. ^{[9] [10]}

References

1. GRCh38: Ensembl release 89: ENSG00000146733 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029446 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Koch GA, Eddy RL, Haley LL, Byers MG, McAvoy M, Shows TB (Apr 1983). "Assignment of the human phosphoserine phosphatase gene (PSP) to the pter leads to q22 region of chromosome 7". Cytogenetics and Cell Genetics. 35 (1): 67–9. doi:10.1159/000131839. PMID   6297854.
6. Collet JF, Gerin I, Rider MH, Veiga-da-Cunha M, Van Schaftingen E (May 1997). "Human L-3-phosphoserine phosphatase: sequence, expression and evidence for a phosphoenzyme intermediate". FEBS Letters. 408 (3): 281–4. doi: 10.1016/S0014-5793(97)00438-9 . PMID   9188776. S2CID   6952728.
7. "Entrez Gene: PSPH phosphoserine phosphatase".
8. 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 (Sep 2014). "Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway". American Journal of Human Genetics. 95 (3): 285–93. doi:10.1016/j.ajhg.2014.07.012. PMC   4157144 . PMID   25152457.
9. Veiga-da-Cunha M, Collet JF, Prieur B, Jaeken J, Peeraer Y, Rabbijns A, Van Schaftingen E (Feb 2004). "Mutations responsible for 3-phosphoserine phosphatase deficiency". European Journal of Human Genetics. 12 (2): 163–6. doi: 10.1038/sj.ejhg.5201083 . PMID   14673469.
10. Jaeken J, Detheux M, Fryns JP, Collet JF, Alliet P, Van Schaftingen E (Jul 1997). "Phosphoserine phosphatase deficiency in a patient with Williams syndrome". Journal of Medical Genetics. 34 (7): 594–6. doi:10.1136/jmg.34.7.594. PMC   1051004 . PMID   9222972.

Further reading

• Minelli A, Piantanida M, Maserati E, Campagnoli E, Pasquali F, Danesino C (Jan 1990). "Gene dosage effect in acquired monosomy 7: distinct behaviour of beta-glucuronidase and phosphoserine phosphatase". Genes, Chromosomes & Cancer. 1 (3): 216–20. doi:10.1002/gcc.2870010305. PMID   1964582. S2CID   31576324.
• Shetty KT (Dec 1990). "Phosphoserine phosphatase of human brain: partial purification, characterization, regional distribution, and effect of certain modulators including psychoactive drugs". Neurochemical Research. 15 (12): 1203–10. doi:10.1007/BF01208581. PMID   1965857. S2CID   24831337.
• Novelli G, Dallapiccola B (1989). "Gene dosage studies regionally assign the phosphoserine phosphatase gene to 7p15.1 or 2". Annales de Génétique. 31 (3): 195–6. PMID   2851960.
• Moro-Furlani AM, Turner VS, Hopkinson DA (May 1980). "Genetical and biochemical studies on human phosphoserine phosphatase". Annals of Human Genetics. 43 (4): 323–33. doi:10.1111/j.1469-1809.1980.tb01566.x. PMID   6249179. S2CID   13270060.
• Sparkes RS, Mohandas T, Sparkes MC (1983). "The human phosphoserine phosphatase gene (PSP) is mapped to chromosome 7 by somatic cell genetic analysis". Cytogenetics and Cell Genetics. 35 (1): 70–1. doi:10.1159/000131840. PMID   6297855.
• Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Jaeken J, Detheux M, Fryns JP, Collet JF, Alliet P, Van Schaftingen E (Jul 1997). "Phosphoserine phosphatase deficiency in a patient with Williams syndrome". Journal of Medical Genetics. 34 (7): 594–6. doi:10.1136/jmg.34.7.594. PMC   1051004 . PMID   9222972.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Collet JF, Stroobant V, Pirard M, Delpierre G, Van Schaftingen E (Jun 1998). "A new class of phosphotransferases phosphorylated on an aspartate residue in an amino-terminal DXDX(T/V) motif". The Journal of Biological Chemistry. 273 (23): 14107–12. doi: 10.1074/jbc.273.23.14107 . PMID   9603909.
• Collet JF, Stroobant V, Van Schaftingen E (Nov 1999). "Mechanistic studies of phosphoserine phosphatase, an enzyme related to P-type ATPases". The Journal of Biological Chemistry. 274 (48): 33985–90. doi: 10.1074/jbc.274.48.33985 . PMID   10567362.
• Peeraer Y, Rabijns A, Verboven C, Collet JF, Van Schaftingen E, De Ranter C (Jan 2002). "Purification, crystallization and preliminary X-ray diffraction analysis of human phosphoserine phosphatase". Acta Crystallographica Section D. 58 (Pt 1): 133–4. Bibcode:2002AcCrD..58..133P. doi:10.1107/S0907444901017310. PMID   11752790.
• 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 (Nov 2002). "Molecular basis for the local conformational rearrangement of human phosphoserine phosphatase". The Journal of Biological Chemistry. 277 (48): 46651–8. doi: 10.1074/jbc.M204866200 . PMID   12213811.
• Veiga-da-Cunha M, Collet JF, Prieur B, Jaeken J, Peeraer Y, Rabbijns A, Van Schaftingen E (Feb 2004). "Mutations responsible for 3-phosphoserine phosphatase deficiency". European Journal of Human Genetics. 12 (2): 163–6. doi: 10.1038/sj.ejhg.5201083 . PMID   14673469.
• Peeraer Y, Rabijns A, Collet JF, Van Schaftingen E, De Ranter C (Aug 2004). "How calcium inhibits the magnesium-dependent enzyme human phosphoserine phosphatase". European Journal of Biochemistry. 271 (16): 3421–7. doi: 10.1111/j.0014-2956.2004.04277.x . PMID   15291819.
• 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 (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.

External links

• Overview of all the structural information available in the PDB for UniProt : P78330 (Phosphoserine phosphatase) at the PDBe-KB .