PSPH
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. [provided by RefSeq]
Full Name
phosphoserine phosphatase
Function
Catalyzes the last irreversible step in the biosynthesis of L-serine from carbohydrates, the dephosphorylation of O-phospho-L-serine to L-serine (PubMed:12213811, PubMed:15291819, PubMed:9222972, PubMed:14673469, PubMed:25080166).
L-serine can then be used in protein synthesis, to produce other amino acids, in nucleotide metabolism or in glutathione synthesis, or can be racemized to D-serine, a neuromodulator (PubMed:14673469).
May also act on O-phospho-D-serine (Probable).
L-serine can then be used in protein synthesis, to produce other amino acids, in nucleotide metabolism or in glutathione synthesis, or can be racemized to D-serine, a neuromodulator (PubMed:14673469).
May also act on O-phospho-D-serine (Probable).
Biological Process
DephosphorylationManual Assertion Based On ExperimentIBA:GO_Central
In utero embryonic developmentIEA:Ensembl
L-serine biosynthetic processManual Assertion Based On ExperimentIMP:UniProtKB
L-serine metabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Response to mechanical stimulusIEA:Ensembl
Response to nutrient levelsIEA:Ensembl
Response to testosteroneIEA:Ensembl
In utero embryonic developmentIEA:Ensembl
L-serine biosynthetic processManual Assertion Based On ExperimentIMP:UniProtKB
L-serine metabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Response to mechanical stimulusIEA:Ensembl
Response to nutrient levelsIEA:Ensembl
Response to testosteroneIEA:Ensembl
Cellular Location
Cytoplasm, cytosol
Involvement in disease
Phosphoserine phosphatase deficiency (PSPHD):
An autosomal recessive disorder that results in pre- and postnatal growth retardation, moderate psychomotor retardation and facial features suggestive of Williams syndrome.
An autosomal recessive disorder that results in pre- and postnatal growth retardation, moderate psychomotor retardation and facial features suggestive of Williams syndrome.
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Anti-PSPH antibodies
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Target: PSPH
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: 3A5
Application*: E, WB
Target: PSPH
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 3C1
Application*: WB, E
Target: PSPH
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 2G9
Application*: WB, E
Target: PSPH
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse
Clone: CBYC-P732
Application*: E, P, WB
Target: PSPH
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 3G12
Application*: WB, E
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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