phosphoserine phosphatase

Summary
Gene Symbol
  • PSPH
Organism
Homo sapiens (human)
NCBI Gene
5723
HGNC
9577
PubChem
5723
Alliance of Genome Resources
JoGo
PSPH
TogoVar
PSPH
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Cytoplasm
  • Disease variant
  • Hydrolase
  • Magnesium
  • Metal-binding
  • Proteomics identification
  • Reference proteome
  • Serine biosynthesis
Proteins
Displaying 1 entry
UniProt Protein Name
P78330
  • L-3-phosphoserine phosphatase
  • O-phosphoserine phosphohydrolase
Gene Ontology (GO)
GO Hierarchy
Displaying all 2 entries
GO Term Evidence Code PMID
cytoplasm
cytosol
OrthoDB (Group)
Group level
Eukaryota
Group Name
Phosphoserine phosphatase
Functional Category
  • M: Cell wall/membrane/envelope biogenesis
  • O: Posttranslational modification, protein turnover, chaperones
  • Q: Secondary metabolites biosynthesis, transport and catabolism
Human Protein Atlas
ENSG00000146733

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0050724 PSPH deficiency
The Human Phenotype Ontology
Displaying entries 1 - 10 of 24 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000047 Hypospadias
HP:0000154 Wide mouth
HP:0000252 Microcephaly
HP:0000293 Full cheeks
HP:0000337 Broad forehead
HP:0000341 Narrow forehead
HP:0000347 Micrognathia
HP:0001249 Intellectual disability
HP:0001250 Seizure
Displaying all 2 entries
Disease ID Disease Name
ORPHA:79350
  • PSPH deficiency
OMIM:614023
  • PSPH deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP005420
Gene Name
phosphoserine phosphatase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025