PSPH Gene Summary [Human]
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, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | PSPH |
| Official Name | phosphoserine phosphatase [Source:HGNC Symbol;Acc:HGNC:9577] |
| Ensembl ID | ENSG00000146733 |
| Bio databases IDs | |
| Aliases | phosphoserine phosphatase |
| Synonyms | CL-3 PHOSPHOSERINE PHOSPHATASE, phosphoserine phosphatase, PSP, PSPase, PSPHD, Serb |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PSPH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Haloacid Dehalogenase superfamily, subfamily IB, phosphoserine phosphatase-like
- phosphoserine phosphatase SerB
- phosphatase
- protein homodimerization
- magnesium ion binding
- identical protein binding
- Haloacid Dehalogenase-like Hydrolases
- haloacid dehalogenase-like hydrolase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- metastasis
- glioma cancer
- glioma formation
- melanoma cancer
- organismal death
- high grade glioma
- deficiency of phosphoserine phosphatase
- cutaneous melanoma cancer
- chronic lymphocytic leukemia
regulates
- histone H3
- agar
- NR4A1
- L-serine
- 5-hydroxymethylcytosine
- L-serine-O-phosphate
- alpha-hydroxyglutarate
role in cell
- expression in
- growth
- invasion by
- degranulation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PSPH gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- in utero embryonic development
- L-serine metabolic process
- L-serine biosynthetic process
- response to testosterone stimulus
- dephosphorylation
- response to nutrient levels
- response to mechanical stimulus
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- identical protein binding
- protein homodimerization activity