PSPH

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

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
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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]