About   Help   FAQ
Psph Gene Detail
Summary
  • Symbol
    Psph
  • Name
    phosphoserine phosphatase
  • Synonyms
    PSPase
  • Feature Type
    protein coding gene
  • IDs
    MGI:97788
    NCBI Gene: 100678
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:129842622-129864318 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 68.26 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    803 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97788
 protein coding gene Chr5:129842622-129864513 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030131
 protein coding gene Chr5:133886514-133908791 (-)
A/J MGP_AJ_G0030098
 protein coding gene Chr5:128255253-128279761 (-)
AKR/J MGP_AKRJ_G0030032
 protein coding gene Chr5:132431030-132452269 (-)
BALB/cJ MGP_BALBcJ_G0030108
 protein coding gene Chr5:129607048-129628640 (-)
C3H/HeJ MGP_C3HHeJ_G0029825
 protein coding gene Chr5:132983857-133005112 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030561
 protein coding gene Chr5:139017506-139041952 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027786
 protein coding gene Chr5:122645965-122667441 (-)
CAST/EiJ MGP_CASTEiJ_G0029234
 protein coding gene Chr5:132280556-132302743 (-)
CBA/J MGP_CBAJ_G0029795
 protein coding gene Chr5:144428171-144451930 (-)
DBA/2J MGP_DBA2J_G0029945
 protein coding gene Chr5:128220644-128242187 (-)
FVB/NJ MGP_FVBNJ_G0029901
 protein coding gene Chr5:127314845-127336238 (-)
LP/J MGP_LPJ_G0030034
 protein coding gene Chr5:134395275-134418572 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029932
 protein coding gene Chr5:147771428-147795604 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030602
 protein coding gene Chr5:132110088-132137818 (-)
PWK/PhJ MGP_PWKPhJ_G0028948
 protein coding gene Chr5:127146050-127169235 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028785
 protein coding gene Chr5:129676128-129697743 (-)
WSB/EiJ MGP_WSBEiJ_G0029308
 protein coding gene Chr5:132810720-132836844 (-)



Homology
more
  • Human Ortholog
    PSPH, phosphoserine phosphatase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PSPH, phosphoserine phosphatase
  • Synonyms
    PSP, PSPHD
  • Links
    NCBI Gene ID: 5723
    neXtProt AC: NX_P78330
    UniProt: P78330

  • Chr Location
    7p11.2; chr7:56011051-56051604 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PSPH associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    128 phenotypes from 2 alleles in 2 genetic backgrounds
    19 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit embryonic growth retardation, subcutaneous edema, placentation defects associated with placental hemorrhage and necrosis, abnormal placental labyrinth vasculature morphology and trophoblast layer formation, and complete preweaning lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    6
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    925
  • Tissues
    118
  • cDNA Data
    70
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 100678 NCBI Gene Model | MGI Sequence Detail 21697 C57BL/6J ±  kb
    transcript NM_133900 RefSeq | MGI Sequence Detail 1554 C57BL/6  
    polypeptide Q99LS3 UniProt | EBI | MGI Sequence Detail 225 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 73
      cDNA 70
      Primer pair 2
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13654, MGI:2140913
    References
    more
    • Summaries
      All 56
      Developmental Gene Expression 10
      Gene Ontology 6
      Phenotypes 19
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:350444 Martinez-Mayer J, et al., Knockout mice with pituitary malformations help identify human cases of hypopituitarism. Genome Med. 2024 May 31;16(1):75
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory