PSPH

Protein identityUniProt · HPA

UniProt accession

P78330

Gene

PSPH

Ensembl

ENSG00000146733

Chromosome

7

Canonical length

225 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Cytosol

Quaternary structure

Homodimer

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

225 residues, UniProt reviewed canonical sequence.

>P78330|PSPH
     1  MVSHSELRKL FYSADAVCFD VDSTVIREEG IDELAKICGV EDAVSEMTRR AMGGAVPFKA
    61  ALTERLALIQ PSREQVQRLI AEQPPHLTPG IRELVSRLQE RNVQVFLISG GFRSIVEHVA
   121  SKLNIPATNV FANRLKFYFN GEYAGFDETQ PTAESGGKGK VIKLLKEKFH FKKIIMIGDG
   181  ATDMEACPPA DAFIGFGGNV IRQQVKDNAK WYITDFVELL GELEE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PSPH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

16 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PSPH.

Disease | AllUniProt

Conditions PSPH is implicated in, by any mechanism.

• Phosphoserine phosphatase deficiency (PSPHD) MIM:614023

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 196 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Deficiency of phosphoserine phosphatase

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.19

gnomAD pLI

0

gnomAD missense Z

0.78

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• in utero embryonic development
• L-serine biosynthetic process
• L-serine metabolic process
• response to mechanical stimulus
• response to nutrient levels
• response to testosterone

Molecular functions

• identical protein binding
• magnesium ion binding
• protein homodimerization activity
• L-phosphoserine phosphatase activity

Cellular components

• cytoplasm
• cytosol

Protein domainsUniProt · Pfam · InterPro

• HAD superfamily
• HAD-like superfamily
• haloacid dehalogenase-like hydrolase
• Phosphoserine phosphatase
• HAD-like hydrolase superfamily, SerB

KeywordsUniProt

• Acetylation
• Amino-acid biosynthesis
• Cytoplasm
• Hydrolase
• Magnesium
• Metal-binding
• Serine biosynthesis