Gene Gene information from NCBI Gene database.
Entrez ID 3612
Gene name Inositol monophosphatase 1
Gene symbol IMPA1
Synonyms (NCBI Gene)
IMPIMPAMRT59
Chromosome 8
Chromosome location 8q21.13
Summary This gene encodes an enzyme that dephosphorylates myo-inositol monophosphate to generate free myo-inositol, a precursor of phosphatidylinositol, and is therefore an important modulator of intracellular signal transduction via the production of the second
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1057519491 ->GCCCA Pathogenic Frameshift variant, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
222
miRTarBase ID miRNA Experiments Reference
MIRT006254 hsa-miR-34a-5p Luciferase reporter assay 22301190
MIRT006254 hsa-miR-34a-5p Luciferase reporter assay 22301190
MIRT006254 hsa-miR-34a-5p Luciferase reporter assay 22301190
MIRT006254 hsa-miR-34a-5p Luciferase reporter assay 22301190
MIRT006254 hsa-miR-34a-5p Luciferase reporter assay 22301190
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IDA 9462881, 23027737
GO:0004346 Function Glucose-6-phosphatase activity IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32814053, 35271311
GO:0005737 Component Cytoplasm IDA 1377913, 17068342
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602064 6050 ENSG00000133731
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P29218
Protein name Inositol monophosphatase 1 (IMP 1) (IMPase 1) (EC 3.1.3.25) (D-galactose 1-phosphate phosphatase) (EC 3.1.3.94) (Inositol-1(or 4)-monophosphatase 1) (Lithium-sensitive myo-inositol monophosphatase A1)
Protein function Phosphatase involved in the dephosphorylation of myo-inositol monophosphates to generate myo-inositol (PubMed:17068342, PubMed:8718889, PubMed:9462881). Is also able to dephosphorylate scyllo-inositol-phosphate, myo-inositol 1,4-diphosphate, scy
PDB 1AWB , 1IMA , 1IMB , 1IMC , 1IMD , 1IME , 1IMF , 2HHM , 4AS4 , 6GIU , 6GJ0 , 6ZK0 , 7VCE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00459 Inositol_P 5 270 Inositol monophosphatase family Family
Sequence
Sequence length 277
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
  Synthesis of IP2, IP, and Ins in the cytosol
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability, autosomal recessive 59 Likely pathogenic; Pathogenic rs1308325707, rs1057519491 RCV002226865
RCV000416531
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs183772097 RCV005904848
Familial cancer of breast Benign rs183772097 RCV005904845
IMPA1-related disorder Likely benign rs139555224 RCV003903139
Pancreatic adenocarcinoma Benign rs183772097 RCV005904846
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Attention Deficit and Disruptive Behavior Disorders Associate 32839513
Brain Diseases Associate 30616629
Diabetes Gestational Associate 33165596
Intellectual Disability Associate 30616629, 32839513
Lymphoma Large B Cell Diffuse Associate 29242506
Neoplasms Associate 31152607
Niemann Pick Disease Type C Associate 32839513
Obesity Associate 28207535
Triple Negative Breast Neoplasms Stimulate 35796646