PSPH (phosphoserine phosphatase)

2012-01-01  

Identity

HGNC
PSPH
LOCATION
7p11.2
LOCUSID
5723
ALIAS
PSP,PSPHD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5723
MIM: 172480
HGNC: 9577
Ensembl: ENSG00000146733

Variants:

dbSNP: 5723
ClinVar: 5723
TCGA: ENSG00000146733
COSMIC: PSPH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000146733ENST00000275605P78330
ENSG00000146733ENST00000275605A0A024RDL3
ENSG00000146733ENST00000395471P78330
ENSG00000146733ENST00000395471A0A024RDL3
ENSG00000146733ENST00000419984C9JEJ7
ENSG00000146733ENST00000421312C9JEJ7
ENSG00000146733ENST00000421626C9JBI3
ENSG00000146733ENST00000424596A0A1D5RMN5
ENSG00000146733ENST00000427797F8WD74
ENSG00000146733ENST00000437355P78330
ENSG00000146733ENST00000437355A0A024RDL3

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycine, serine and threonine metabolismKEGGko00260
Glycine, serine and threonine metabolismKEGGhsa00260
Metabolic pathwaysKEGGhsa01100
Serine biosynthesis, glycerate-3P => serineKEGGhsa_M00020
Serine biosynthesis, glycerate-3P => serineKEGGM00020
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Amino acid synthesis and interconversion (transamination)REACTOMER-HSA-70614
Serine biosynthesisREACTOMER-HSA-977347

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA450423l-methionineChemicalLiterature, MultilinkAnnotationassociated24651765

References

Pubmed IDYearTitleCitations
257933152015cMyc-mediated activation of serine biosynthesis pathway is critical for cancer progression under nutrient deprivation conditions.51
251524572014Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.18
217269822011L-3-Phosphoserine phosphatase (PSPH) regulates cutaneous squamous cell carcinoma proliferation independent of L-serine biosynthesis.12
152918192004How calcium inhibits the magnesium-dependent enzyme human phosphoserine phosphatase.9
122138112002Molecular basis for the local conformational rearrangement of human phosphoserine phosphatase.8
284768022017Phosphoserine Phosphatase Is a Novel Prognostic Biomarker on Chromosome 7 in Colorectal Cancer.5
250801662015Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan.1
306623582019PSPH Mediates the Metastasis and Proliferation of Non-small Cell Lung Cancer through MAPK Signaling Pathways.1
312050212019Crystal structures and snapshots along the reaction pathway of human phosphoserine phosphatase.1
117527902002Purification, crystallization and preliminary X-ray diffraction analysis of human phosphoserine phosphatase.0

Citation

Dessen P

PSPH (phosphoserine phosphatase)

Atlas Genet Cytogenet Oncol Haematol. 2012-01-01

Online version: http://atlasgeneticsoncology.org/gene/52528/psph