Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3612
Gene name Gene Name - the full gene name approved by the HGNC.
Inositol monophosphatase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IMPA1
Synonyms (NCBI Gene) Gene synonyms aliases
IMP, IMPA, MRT59
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q21.13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs1057519491 ->GCCCA Pathogenic Frameshift variant, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602064 6050 ENSG00000133731
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal recessive 59 rs1057519491 N/A
Associations from Text Mining Disease 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