ENSG00000133731


Homo sapiens

Features
Gene ID: ENSG00000133731
  
Biological name :IMPA1
  
Synonyms : IMPA1 / inositol monophosphatase 1 / P29218
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: q21.13
Gene start: 81657961
Gene end: 81686693
  
Corresponding Affymetrix probe sets: 203011_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000256108
Ensembl peptide - ENSP00000430283
Ensembl peptide - ENSP00000430081
Ensembl peptide - ENSP00000429735
Ensembl peptide - ENSP00000429516
Ensembl peptide - ENSP00000429322
Ensembl peptide - ENSP00000428812
Ensembl peptide - ENSP00000428594
Ensembl peptide - ENSP00000428425
Ensembl peptide - ENSP00000408526
Ensembl peptide - ENSP00000311803
NCBI entrez gene - 3612     See in Manteia.
OMIM - 602064
RefSeq - NM_001144879
RefSeq - NM_005536
RefSeq - NM_001144878
RefSeq Peptide - NP_001138350
RefSeq Peptide - NP_001138351
RefSeq Peptide - NP_005527
swissprot - A0A140VJL8
swissprot - A0A024R830
swissprot - H0YBL1
swissprot - E5RIP7
swissprot - P29218
swissprot - E5RIF4
swissprot - E5RI82
swissprot - E5RHE9
swissprot - E5RGY4
swissprot - E5RG94
swissprot - E5RG13
Ensembl - ENSG00000133731
  
Related genetic diseases (OMIM): 617323 - Mental retardation, autosomal recessive 59, 617323
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
 impa1ENSDARG00000003517Danio rerio
 IMPA1ENSGALG00000034487Gallus gallus
 Impa1ENSMUSG00000027531Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
IMPA2 / O14732 / inositol monophosphatase 2ENSG0000014140143


Protein motifs (from Interpro)
Interpro ID Name
 IPR000760  Inositol monophosphatase-like
 IPR020550  Inositol monophosphatase, conserved site
 IPR020552  Inositol monophosphatase, Lithium-sensitive
 IPR020583  Inositol monophosphatase, metal-binding site
 IPR033942  Inositol monophosphatase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006020 inositol metabolic process IBA
 biological_processGO:0006021 inositol biosynthetic process IEA
 biological_processGO:0006661 phosphatidylinositol biosynthetic process IMP
 biological_processGO:0006796 phosphate-containing compound metabolic process IMP
 biological_processGO:0007165 signal transduction IMP
 biological_processGO:0043647 inositol phosphate metabolic process TAS
 biological_processGO:0046854 phosphatidylinositol phosphorylation IEA
 biological_processGO:0046855 inositol phosphate dephosphorylation IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000287 magnesium ion binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008934 inositol monophosphate 1-phosphatase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0030145 manganese ion binding IDA
 molecular_functionGO:0031403 lithium ion binding IDA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0052832 inositol monophosphate 3-phosphatase activity IEA
 molecular_functionGO:0052833 inositol monophosphate 4-phosphatase activity IEA
 molecular_functionGO:0052834 inositol monophosphate phosphatase activity IEA


Pathways (from Reactome)
Pathway description
Synthesis of IP2, IP, and Ins in the cytosol


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:0000718 Aggressive behavior "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0011999 Paranoia "A persecutory delusion of supposed hostility of others." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000133731 IMPA1 / P29218 / inositol monophosphatase 1  / complex






 

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