Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5723
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphoserine phosphatase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PSPH
Synonyms (NCBI Gene) Gene synonyms aliases
PSP, PSPHD
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
172480 9577 ENSG00000146733
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Deficiency Of Phosphoserine Phosphatase deficiency of phosphoserine phosphatase rs104894036, rs786204793 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Amelogenesis imperfecta amelogenesis imperfecta N/A N/A ClinVar
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease 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