Gene Gene information from NCBI Gene database.
Entrez ID 5723
Gene name Phosphoserine phosphatase
Gene symbol PSPH
Synonyms (NCBI Gene)
PSPPSPHD
Chromosome 7
Chromosome location 7p11.2
Summary 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 i
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs73343752 A>G Likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, non coding transcript variant, coding sequence variant
rs104894035 C>T Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs104894036 A>G Pathogenic Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs786204793 C>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
389
miRTarBase ID miRNA Experiments Reference
MIRT023338 hsa-miR-122-5p Proteomics 21750653
MIRT032012 hsa-miR-16-5p Proteomics 18668040
MIRT038375 hsa-miR-296-3p CLASH 23622248
MIRT654660 hsa-miR-3163 HITS-CLIP 23824327
MIRT654659 hsa-miR-4729 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IBA
GO:0000287 Function Magnesium ion binding IDA 15291819
GO:0001701 Process In utero embryonic development IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
172480 9577 ENSG00000146733
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P78330
Protein name Phosphoserine phosphatase (PSP) (PSPase) (EC 3.1.3.3) (L-3-phosphoserine phosphatase) (O-phosphoserine phosphohydrolase)
Protein 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:14673469, PubMed:15291819, PubMed:25080166, PubMed:9222972). L-serine can t
PDB 1L8L , 1L8O , 1NNL , 6HYJ , 6HYY , 6Q6J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00702 Hydrolase 14 191 Domain
Sequence
Sequence length 225
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycine, serine and threonine metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
  Serine biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
217
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Deficiency of phosphoserine phosphatase Pathogenic; Likely pathogenic rs786204793, rs104894036, rs1264747554, rs1788688718 RCV000169687
RCV000014594
RCV004799409
RCV001283838
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs145544909, rs200942360 RCV005899226
RCV005913982
Adrenocortical carcinoma, hereditary Benign; Likely benign rs78599516 RCV005899241
Amelogenesis imperfecta Uncertain significance rs148469975 RCV001089669
Cervical cancer Benign rs145544909, rs74874687, rs200942360 RCV005899228
RCV005899233
RCV005913986
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 39735553
Breast Neoplasms Associate 24979213, 25496516, 26109344, 29228969
Carcinoma Ductal Associate 25053597
Carcinoma Hepatocellular Associate 30176945
Carcinoma Lobular Associate 25053597
Carcinoma Medullary Inhibit 27277113
Carcinoma Non Small Cell Lung Associate 30662358
Carcinoma Non Small Cell Lung Stimulate 30977310
Colorectal Neoplasms Associate 22276153, 24146633, 34201061
Fatty Liver Alcoholic Associate 24419221