ENSG00000146733


Homo sapiens

Features
Gene ID: ENSG00000146733
  
Biological name :PSPH
  
Synonyms : P78330 / phosphoserine phosphatase / PSPH
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: p11.2
Gene start: 56011051
Gene end: 56051604
  
Corresponding Affymetrix probe sets: 205048_s_at (Human Genome U133 Plus 2.0 Array)   205194_at (Human Genome U133 Plus 2.0 Array)   244819_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000398653
Ensembl peptide - ENSP00000399660
Ensembl peptide - ENSP00000405538
Ensembl peptide - ENSP00000404674
Ensembl peptide - ENSP00000403431
Ensembl peptide - ENSP00000401639
Ensembl peptide - ENSP00000275605
Ensembl peptide - ENSP00000378854
Ensembl peptide - ENSP00000390452
Ensembl peptide - ENSP00000390952
NCBI entrez gene - 5723     See in Manteia.
OMIM - 172480
RefSeq - XM_017012469
RefSeq - XM_005271776
RefSeq - XM_006715760
RefSeq - XM_006715761
RefSeq - XM_011515461
RefSeq - XM_017012466
RefSeq - XM_017012467
RefSeq - XM_017012468
RefSeq - NM_004577
RefSeq - XM_005271773
RefSeq - XM_005271774
RefSeq - XM_005271775
RefSeq Peptide - NP_004568
swissprot - A0A1D5RMN5
swissprot - A0A024RDL3
swissprot - C9JBI3
swissprot - C9JEJ7
swissprot - P78330
swissprot - F8WD74
Ensembl - ENSG00000146733
  
Related genetic diseases (OMIM): 614023 - Phosphoserine phosphatase deficiency, 614023
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 psphENSDARG00000040314Danio rerio
 PSPHENSGALG00000002397Gallus gallus
 PsphENSMUSG00000029446Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR023190  Phosphoserine phosphatase, domain 2
 IPR023214  HAD superfamily
 IPR036412  HAD-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006563 L-serine metabolic process TAS
 biological_processGO:0006564 L-serine biosynthetic process IEA
 biological_processGO:0008652 cellular amino acid biosynthetic process IEA
 biological_processGO:0009612 response to mechanical stimulus IEA
 biological_processGO:0016311 dephosphorylation IEA
 biological_processGO:0031667 response to nutrient levels IEA
 biological_processGO:0033574 response to testosterone IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0043005 neuron projection IEA
 molecular_functionGO:0000287 magnesium ion binding IDA
 molecular_functionGO:0004647 phosphoserine phosphatase activity IEA
 molecular_functionGO:0005509 calcium ion binding IDA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Serine biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001276 Hypertonia 
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 HP:0001511 Intrauterine growth retardation 
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 HP:0002059 Cerebral atrophy 
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 HP:0003593 Early onset 
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 HP:0008897 Growth retardation, progressive 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000146733 PSPH / P78330 / phosphoserine phosphatase  / complex






 

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