Human Gene IMPA1 (ENST00000449740.6) from GENCODE V44
  Description: Homo sapiens inositol monophosphatase 1 (IMPA1), transcript variant 2, mRNA. (from RefSeq NM_001144878)
RefSeq Summary (NM_001144878): 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 messengers myoinositol 1,4,5-trisphosphate and diacylglycerol. This enzyme can also use myo-inositol-1,3-diphosphate, myo-inositol-1,4-diphosphate, scyllo-inositol-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. This enzyme shows magnesium-dependent phosphatase activity and is inhibited by therapeutic concentrations of lithium. Inhibition of inositol monophosphate hydroylosis and subsequent depletion of inositol for phosphatidylinositol synthesis may explain the anti-manic and anti-depressive effects of lithium administered to treat bipolar disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A pseudogene of this gene is also present on chromosome 8q21.13. [provided by RefSeq, Dec 2014].
Gencode Transcript: ENST00000449740.6
Gencode Gene: ENSG00000133731.10
Transcript (Including UTRs)
   Position: hg38 chr8:81,659,262-81,686,283 Size: 27,022 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr8:81,659,351-81,685,915 Size: 26,565 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:81,659,262-81,686,283)mRNA (may differ from genome)Protein (336 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IMPA1_HUMAN
DESCRIPTION: RecName: Full=Inositol monophosphatase 1; Short=IMP 1; Short=IMPase 1; EC=3.1.3.25; AltName: Full=Inositol-1(or 4)-monophosphatase 1; AltName: Full=Lithium-sensitive myo-inositol monophosphatase A1;
FUNCTION: Responsible for the provision of inositol required for synthesis of phosphatidylinositol and polyphosphoinositides and has been implicated as the pharmacological target for lithium action in brain. Can use myo-inositol monophosphates, myo-inositol 1,3-diphosphate, myo-inositol 1,4-diphosphate, scyllo-inositol- phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1- phosphate, beta-glycerophosphate, and 2'-AMP as substrates.
CATALYTIC ACTIVITY: Myo-inositol phosphate + H(2)O = myo-inositol + phosphate.
COFACTOR: Magnesium.
ENZYME REGULATION: Inhibited by Li(+).
BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is 7.0-7.5;
PATHWAY: Polyol metabolism; myo-inositol biosynthesis; myo- inositol from D-glucose 6-phosphate: step 2/2.
SUBUNIT: Homodimer.
INTERACTION: Self; NbExp=2; IntAct=EBI-752410, EBI-752410;
SUBCELLULAR LOCATION: Cytoplasm.
SIMILARITY: Belongs to the inositol monophosphatase family.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: IMPA1
Diseases sorted by gene-association score: mental retardation, autosomal recessive 59* (919), bipolar disorder (55), chronic intestinal vascular insufficiency (9), lip disease (6), evans' syndrome (6), galactosemia (6), gingival recession (6), mood disorder (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.90 RPKM in Testis
Total median expression: 371.08 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -21.6080-0.270 Picture PostScript Text
3' UTR -15.6089-0.175 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020583 - Inositol_monoP_metal-BS
IPR020552 - Inositol_monoPase_Li-sen
IPR000760 - Inositol_monophosphatase
IPR020550 - Inositol_monophosphatase_CS

Pfam Domains:
PF00459 - Inositol monophosphatase family

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1AWB - X-ray MuPIT 1IMA - X-ray MuPIT 1IMB - X-ray MuPIT 1IMC - X-ray MuPIT 1IMD - X-ray MuPIT 1IME - X-ray MuPIT 1IMF - X-ray MuPIT 2HHM - X-ray MuPIT 4AS4 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P29218
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000287 magnesium ion binding
GO:0005515 protein binding
GO:0008934 inositol monophosphate 1-phosphatase activity
GO:0016787 hydrolase activity
GO:0030145 manganese ion binding
GO:0031403 lithium ion binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
GO:0052832 inositol monophosphate 3-phosphatase activity
GO:0052833 inositol monophosphate 4-phosphatase activity
GO:0052834 inositol monophosphate phosphatase activity

Biological Process:
GO:0006020 inositol metabolic process
GO:0006021 inositol biosynthetic process
GO:0006661 phosphatidylinositol biosynthetic process
GO:0006796 phosphate-containing compound metabolic process
GO:0007165 signal transduction
GO:0043647 inositol phosphate metabolic process
GO:0046854 phosphatidylinositol phosphorylation
GO:0046855 inositol phosphate dephosphorylation

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC008381 - Homo sapiens inositol(myo)-1(or 4)-monophosphatase 1, mRNA (cDNA clone MGC:12464 IMAGE:3682305), complete cds.
AF042729 - Homo sapiens lithium-sensitive myo-inositol monophosphatase A1 (IMPA1) mRNA, complete cds.
BC009565 - Homo sapiens inositol(myo)-1(or 4)-monophosphatase 1, mRNA (cDNA clone MGC:12163 IMAGE:3682657), complete cds.
AK297078 - Homo sapiens cDNA FLJ58981 complete cds, highly similar to Inositol monophosphatase (EC 3.1.3.25).
JD206668 - Sequence 187692 from Patent EP1572962.
AK300750 - Homo sapiens cDNA FLJ54837 complete cds, highly similar to Inositol monophosphatase (EC 3.1.3.25).
JD252691 - Sequence 233715 from Patent EP1572962.
JD491729 - Sequence 472753 from Patent EP1572962.
JD243059 - Sequence 224083 from Patent EP1572962.
HM005407 - Homo sapiens clone HTL-T-94 testicular tissue protein Li 94 mRNA, complete cds.
X66922 - H.sapiens mRNA for myo-insositol monophosphatase.
KJ905810 - Synthetic construct Homo sapiens clone ccsbBroadEn_15480 IMPA1 gene, encodes complete protein.
AK312823 - Homo sapiens cDNA, FLJ93260, Homo sapiens inositol(myo)-1(or 4)-monophosphatase 1 (IMPA1), mRNA.
HQ447127 - Synthetic construct Homo sapiens clone IMAGE:100070415; CCSB006214_04 inositol(myo)-1(or 4)-monophosphatase 1 (IMPA1) gene, encodes complete protein.
KJ891472 - Synthetic construct Homo sapiens clone ccsbBroadEn_00866 IMPA1 gene, encodes complete protein.
CU679403 - Synthetic construct Homo sapiens gateway clone IMAGE:100016955 5' read IMPA1 mRNA.
JD368602 - Sequence 349626 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00562 - Inositol phosphate metabolism
hsa01100 - Metabolic pathways
hsa04070 - Phosphatidylinositol signaling system

Reactome (by CSHL, EBI, and GO)

Protein P29218 (Reactome details) participates in the following event(s):

R-HSA-1855211 I4P is dephosphorylated to Ins by IMPA1/2 in the cytosol
R-HSA-1855154 I1P is dephosphorylated to Ins by IMPA1/2 in the cytosol
R-HSA-1855210 I3P is dephosphorylated to Ins by IMPA1/2 in the cytosol
R-HSA-1855183 Synthesis of IP2, IP, and Ins in the cytosol
R-HSA-1483249 Inositol phosphate metabolism
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2R733, B4DLN3, ENST00000449740.1, ENST00000449740.2, ENST00000449740.3, ENST00000449740.4, ENST00000449740.5, IMPA, IMPA1_HUMAN, NM_001144878, P29218, Q9UK71, uc011lfq.1, uc011lfq.2
UCSC ID: ENST00000449740.6
RefSeq Accession: NM_001144878
Protein: P29218 (aka IMPA1_HUMAN)
CCDS: CCDS47883.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.