IMPA1 Gene (Protein Coding)

Inositol Monophosphatase 1

GC08M081656
GIFtS:
49
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-ino... See more...

Aliases for IMPA1 Gene

Aliases for IMPA1 Gene

  • Inositol Monophosphatase 1 2 3 4 5
  • Lithium-Sensitive Myo-Inositol Monophosphatase A1 3 4
  • Inositol(Myo)-1(Or 4)-Monophosphatase 1 2 3
  • D-Galactose 1-Phosphate Phosphatase 3 4
  • Inositol-1(Or 4)-Monophosphatase 1 3 4
  • Myo-Inositol Monophosphatase 1 2 3
  • EC 3.1.3.25 4 50
  • IMPase 1 3 4
  • IMP 1 3 4
  • IMPA 3 4
  • Testicular Tissue Protein Li 94 3
  • EC 3.1.3.94 4
  • MRT59 3
  • IMPA1 5
  • IMP 3

External Ids for IMPA1 Gene

Previous HGNC Symbols for IMPA1 Gene

  • IMPA

Previous GeneCards Identifiers for IMPA1 Gene

  • GC08M081447
  • GC08M082618
  • GC08M082293
  • GC08M082620
  • GC08M082732
  • GC08M082569
  • GC08M078058

Summaries for IMPA1 Gene

Entrez Gene Summary for IMPA1 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 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]

GeneCards Summary for IMPA1 Gene

IMPA1 (Inositol Monophosphatase 1) is a Protein Coding gene. Diseases associated with IMPA1 include Mental Retardation, Autosomal Recessive 59 and Bipolar Disorder. Among its related pathways are superpathway of inositol phosphate compounds and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and magnesium ion binding. An important paralog of this gene is IMPA2.

UniProtKB/Swiss-Prot Summary for IMPA1 Gene

  • 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. Has broad substrate specificity and can use myo-inositol monophosphates, myo-inositol 1,3-diphosphate, myo-inositol 1,4-diphosphate, scyllo-inositol-phosphate, D-galactose 1-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates.

Gene Wiki entry for IMPA1 Gene

Additional gene information for IMPA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IMPA1 Gene

Genomics for IMPA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for IMPA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH08J081685 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 282.2 +0.1 130 1.6 BCLAF1 NCOR1 MYC ZNF600 ZNF580 KLF9 POLR2A ZIC2 YY1 ZNF217 IMPA1 piR-34822-315 lnc-SLC10A5-2 CHMP4C HSALNG0066584 HSALNG0066582 FABP12
GH08J081719 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 36.2 -34.7 -34651 2.8 MYC IKZF1 ZNF600 SSRP1 POLR2A ZNF10 NFIC YY1 ZNF217 MXD4 ZFAND1 IMPA1 SLC10A5 CHMP4C HSALNG0066590 lnc-CHMP4C-7 lnc-ZFAND1-1
GH08J081730 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 25.2 -46.0 -45997 4.3 MYC ZNF600 ZNF592 ATF2 CEBPA ZIC2 YY1 CEBPB KLF11 SMAD5 CHMP4C ZFAND1 lnc-ZFAND1-1 IMPA1 FABP5 lnc-CHMP4C-7 SLC10A5
GH08J081686 Enhancer 0.2 Ensembl 260.9 +1.2 1230 0.2 IMPA1 lnc-SLC10A5-2 HSALNG0066582 FABP12
GH08J081641 Enhancer 0.6 Ensembl 57.3 +44.7 44684 0.5 ZNF654 CTCF TRIM22 RAD21 SMC3 ZNF143 MEIS2 NFIL3 HLF PKNOX1 IMPA1 ZFAND1 CHMP4C HSALNG0066580 SLC10A5P1 lnc-IMPA1-1 FABP12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IMPA1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IMPA1

Top Transcription factor binding sites by QIAGEN in the IMPA1 gene promoter:
  • c-Rel
  • Egr-4
  • Evi-1
  • Hlf
  • NRF-2
  • POU2F1
  • POU2F1a
  • RORalpha1
  • TBP
  • TFIID

Genomic Locations for IMPA1 Gene

Latest Assembly
chr8:81,656,914-81,686,331
(GRCh38/hg38)
Size:
29,418 bases
Orientation:
Minus strand

Previous Assembly
chr8:82,569,149-82,598,560
(GRCh37/hg19 by Entrez Gene)
Size:
29,412 bases
Orientation:
Minus strand

chr8:82,570,196-82,598,928
(GRCh37/hg19 by Ensembl)
Size:
28,733 bases
Orientation:
Minus strand

Genomic View for IMPA1 Gene

Genes around IMPA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IMPA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IMPA1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for IMPA1 Gene

Proteins for IMPA1 Gene

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  2. Protein products for research
  3. Assay products for research

  • Protein details for IMPA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29218-IMPA1_HUMAN
    Recommended name:
    Inositol monophosphatase 1
    Protein Accession:
    P29218
    Secondary Accessions:
    • B2R733
    • B4DLN3
    • B7Z6Q4
    • J3KQT7
    • Q9UK71

    Protein attributes for IMPA1 Gene

    Size:
    277 amino acids
    Molecular mass:
    30189 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for IMPA1 Gene

    Alternative splice isoforms for IMPA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IMPA1 Gene

Protein Expression for IMPA1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for IMPA1 Gene

P29218:
  • IIVTEAGGV
  • DGTTNFVH
  • NFVHRFP
  • VGTAAVNMCLVATGGADAYYEMG
  • GAFCNGQ
  • FIGEESVA
  • EFGVVYSC

Post-translational modifications for IMPA1 Gene

  • Ubiquitination at Lys145
  • Modification sites at PhosphoSitePlus

Other Protein References for IMPA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for IMPA1

Domains & Families for IMPA1 Gene

Gene Families for IMPA1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for IMPA1 Gene

InterPro:
Blocks:
  • Inositol phosphatase/fructose-1,6-bisphosphatase

Suggested Antigen Peptide Sequences for IMPA1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58981, highly similar to Inositol monophosphatase (EC 3.1.3.25) (B4DLN3_HUMAN)
  • Lithium-sensitive myo-inositol monophosphatase A1 (IMPA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P29218

UniProtKB/Swiss-Prot:

IMPA1_HUMAN :
  • Belongs to the inositol monophosphatase superfamily.
Family:
  • Belongs to the inositol monophosphatase superfamily.
genes like me logo Genes that share domains with IMPA1: view

Function for IMPA1 Gene

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  6. Cell Lines for research

Molecular function for IMPA1 Gene

UniProtKB/Swiss-Prot 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. Has broad substrate specificity and can use myo-inositol monophosphates, myo-inositol 1,3-diphosphate, myo-inositol 1,4-diphosphate, scyllo-inositol-phosphate, D-galactose 1-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a myo-inositol phosphate + H2O = myo-inositol + phosphate; Xref=Rhea:RHEA:24056, ChEBI:CHEBI:15377, ChEBI:CHEBI:17268, ChEBI:CHEBI:43474, ChEBI:CHEBI:84139; EC=3.1.3.25; Evidence={ECO:0000269|PubMed:1377913, ECO:0000269|PubMed:8068620, ECO:0000269|PubMed:8718889, ECO:0000269|PubMed:9462881};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=alpha-D-galactose 1-phosphate + H2O = D-galactose + phosphate; Xref=Rhea:RHEA:29315, ChEBI:CHEBI:4139, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58336; EC=3.1.3.94; Evidence={ECO:0000269|PubMed:9462881};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=42 uM for D-myo-inositol 1-phosphate {ECO:0000269|PubMed:8068620}; KM=62 uM for L-myo-inositol 1-phosphate {ECO:0000269|PubMed:8068620}; pH dependence: Optimum pH is 7.0-7.5. {ECO:0000269|PubMed:17068342};
UniProtKB/Swiss-Prot EnzymeRegulation:
Activity with myo-inositol monophosphate and D-galactose 1-phosphate is inhibited by Li(+), Ca(2+) and Mn(2+), but also by Mg(2+) at concentrations above 3 mM.
GENATLAS Biochemistry:
myo-inositol monophosphatase 1,putatively involved in response to lithium treatment

Enzyme Numbers (IUBMB) for IMPA1 Gene

Phenotypes From GWAS Catalog for IMPA1 Gene

Gene Ontology (GO) - Molecular Function for IMPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 9462881
GO:0005515 protein binding IPI 25416956
GO:0008934 inositol monophosphate 1-phosphatase activity IEA,IMP 1377913
GO:0016787 hydrolase activity IEA --
GO:0030145 manganese ion binding IDA 9462881
genes like me logo Genes that share ontologies with IMPA1: view
genes like me logo Genes that share phenotypes with IMPA1: view

Human Phenotype Ontology for IMPA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IMPA1 Gene

MGI Knock Outs for IMPA1:

Animal Models for research

  • Taconic Biosciences Mouse Models for IMPA1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IMPA1

No data available for Transcription Factor Targets and HOMER Transcription for IMPA1 Gene

Localization for IMPA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IMPA1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IMPA1 gene
Compartment Confidence
cytosol 5
mitochondrion 4
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for IMPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 1377913
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with IMPA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IMPA1 Gene

Pathways & Interactions for IMPA1 Gene

genes like me logo Genes that share pathways with IMPA1: view

UniProtKB/Swiss-Prot P29218-IMPA1_HUMAN

  • Pathway: Polyol metabolism; myo-inositol biosynthesis; myo-inositol from D-glucose 6-phosphate: step 2/2.

Gene Ontology (GO) - Biological Process for IMPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006020 inositol metabolic process IBA 21873635
GO:0006021 inositol biosynthetic process IEA --
GO:0006661 phosphatidylinositol biosynthetic process IMP 1377913
GO:0006796 phosphate-containing compound metabolic process IMP 1377913
GO:0007165 signal transduction IBA,IMP 1377913
genes like me logo Genes that share ontologies with IMPA1: view

No data available for SIGNOR curated interactions for IMPA1 Gene

Drugs & Compounds for IMPA1 Gene

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(20) Drugs for IMPA1 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Inositol Approved, Investigational, Withdrawn Pharma 118
Magnesium Approved, Experimental, Investigational Pharma 0
Lithium carbonate Approved Pharma Target Mood stabilizer; inhibits Na+/K+ ATPase pump activity 318
Lithium citrate Approved Pharma Target 0
Water Approved Pharma 0

(12) Additional Compounds for IMPA1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-myo-Inositol 3-phosphate
  • 1D-Myo-inositol 3-monophosphate
  • 1l-Myo-inositol 1-phosphate
  • D-Myo-inositol 3-monophosphate
  • Inositol 3-phosphate
  • L-Myo-inositol 1-phosphate
 2831-74-5
D-myo-Inositol 4-phosphate
  • 1D-Myo-inositol 4-monophosphate
  • 1D-Myo-inositol 4-phosphate
  • Inositol 4-phosphate
  • 1D-Myo-inositol 4-monophosphoric acid
  • 1D-Myo-inositol 4-phosphoric acid
 69256-52-6
Inositol phosphate
  • 1D-Myo-inositol 1-monophosphate
  • D-Myo-inositol 1-phosphate
  • I1P
  • Inositol 1-phosphate
  • Ins(1)p
 15421-51-9

(2) ApexBio Compounds for IMPA1 Gene

Compound Action Cas Number
L-690,330 142523-38-4
L-690,488 142523-14-6
genes like me logo Genes that share compounds with IMPA1: view

Drug products for research

Transcripts for IMPA1 Gene

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mRNA/cDNA for IMPA1 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IMPA1

Alternative Splicing Database (ASD) splice patterns (SP) for IMPA1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10
SP1: - - -
SP2: -
SP3:
SP4:

Relevant External Links for IMPA1 Gene

GeneLoc Exon Structure for
IMPA1

Expression for IMPA1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IMPA1 Gene

mRNA expression in normal human tissues for IMPA1 Gene
mRNA expression by BioGPS for IMPA1 GenemRNA expression by GTEx for IMPA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IMPA1 Gene



Protein tissue co-expression partners for IMPA1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IMPA1

SOURCE GeneReport for Unigene cluster for IMPA1 Gene:

Hs.656694

Evidence on tissue expression from TISSUES for IMPA1 Gene

  • Nervous system(4.9)
  • Blood(4.4)
  • Kidney(2.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with IMPA1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for IMPA1 Gene

Orthologs for IMPA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IMPA1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia LOC100613673 29
  • 99.21 (n)
IMPA1 30
  • 99 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia IMPA1 29 30
  • 90.97 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia IMPA1 29 30
  • 90.13 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Impa1 29 16 30
  • 83.57 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Impa1 29
  • 83.09 (n)
Oppossum
(Monodelphis domestica)
 Mammalia IMPA1 30
  • 82 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia IMPA1 30
  • 71 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves IMPA1 29 30
  • 76.69 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia IMPA1 30
  • 80 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia impa1 29
  • 72.48 (n)
Str.15926 29
African clawed frog
(Xenopus laevis)
 Amphibia impa1-prov 29
Zebrafish
(Danio rerio)
 Actinopterygii impa1 29 30
  • 69.33 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9875 29
Fruit Fly
(Drosophila melanogaster)
 Insecta CG9391 29 30 31
  • 51.18 (n)
 ManyToMany
CG17026 30 31
  • 34 (a)
 ManyToMany
CG17027 30 31
  • 33 (a)
 ManyToMany
CG17029 30 31
  • 32 (a)
 ManyToMany
CG17028 30
  • 31 (a)
 ManyToMany
CG9389 30 31
  • 19 (a)
 ManyToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006570 29
  • 49.69 (n)
Worm
(Caenorhabditis elegans)
 Secernentea ttx-7 29 30
  • 52.13 (n)
 OneToMany
F13G3.5 31
  • 45 (a)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes INM2 29 30 32
  • 52.74 (n)
 ManyToMany
INM1 30
  • 31 (a)
 ManyToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons VTC4 29
  • 50.57 (n)
Rice
(Oryza sativa)
 Liliopsida Os03g0587000 29
  • 51.94 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 51 (a)
 OneToMany
Bread mold
(Neurospora crassa)
 Ascomycetes NCU06348 29
  • 46.87 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.11400 29
Species where no ortholog for IMPA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for IMPA1 Gene

ENSEMBL:
Gene Tree for IMPA1 (if available)
TreeFam:
Gene Tree for IMPA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IMPA1: view image
Alliance of Genome Resources:
Additional Orthologs for IMPA1

Paralogs for IMPA1 Gene

Paralogs for IMPA1 Gene

(21) SIMAP similar genes for IMPA1 Gene using alignment to 9 proteins:

  • IMPA1_HUMAN
  • E5RG13_HUMAN
  • E5RG94_HUMAN
  • E5RGY4_HUMAN
  • E5RHE9_HUMAN
  • E5RI82_HUMAN
  • E5RIF4_HUMAN
  • E5RIP7_HUMAN
  • H0YBL1_HUMAN

Pseudogenes.org Pseudogenes for IMPA1 Gene

genes like me logo Genes that share paralogs with IMPA1: view

Variants for IMPA1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IMPA1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
1029976 Pathogenic: Mental retardation, autosomal recessive 59 81,670,954(-) C/CA
NM_005536.4(IMPA1):c.550dup (p.Cys184fs) 		FRAMESHIFT_VARIANT,INTRON
1029977 Uncertain Significance: Mental retardation, autosomal recessive 59 81,659,466(-) C/T
NM_005536.4(IMPA1):c.719G>A (p.Gly240Asp) 		MISSENSE_VARIANT,THREE_PRIME_UTR
1031546 Uncertain Significance: Mental retardation, autosomal recessive 59 81,673,919(-) C/G
NM_005536.4(IMPA1):c.379G>C (p.Glu127Gln) 		MISSENSE
1031547 Uncertain Significance: Mental retardation, autosomal recessive 59 81,660,621(-) T/C
NM_005536.4(IMPA1):c.613A>G (p.Thr205Ala) 		MISSENSE_VARIANT,SYNONYMOUS
rs1057519491 Pathogenic: Mental retardation, autosomal recessive 59 81,671,011(-) G/GAGCCC
NM_005536.4(IMPA1):c.489_493dup (p.Ser165fs) 		FRAMESHIFT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IMPA1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for IMPA1 Gene

Variant ID Type Subtype PubMed ID
esv1774004 CNV insertion 17803354
esv2665097 CNV deletion 23128226
esv2737230 CNV deletion 23290073
esv3572858 CNV loss 25503493
nsv1117492 CNV tandem duplication 24896259
nsv1120564 CNV tandem duplication 24896259
nsv1132974 CNV insertion 24896259
nsv1140913 CNV deletion 24896259
nsv1141590 CNV duplication 24896259
nsv1142033 OTHER inversion 24896259
nsv1146710 CNV insertion 26484159
nsv465721 CNV gain 19166990
nsv611607 CNV gain 21841781
nsv831368 CNV gain 17160897
nsv831369 CNV gain+loss 17160897

Variation tolerance for IMPA1 Gene

Residual Variation Intolerance Score: 53.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.72; 32.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IMPA1 Gene

Human Gene Mutation Database (HGMD)
IMPA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IMPA1
Leiden Open Variation Database (LOVD)
IMPA1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IMPA1 Gene

Disorders for IMPA1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for IMPA1 Gene - From: OMI, CVR, GTR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search IMPA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IMPA1_HUMAN
  • Mental retardation, autosomal recessive 59 (MRT59) [MIM:617323]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT59 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:26416544}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for IMPA1

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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No data available for Genatlas for IMPA1 Gene

Publications for IMPA1 Gene

  1. Spatial expression patterns and biochemical properties distinguish a second myo-inositol monophosphatase IMPA2 from IMPA1. (PMID: 17068342) Ohnishi T … Yoshikawa T (The Journal of biological chemistry 2007) 3 4 22 25
  2. cDNA cloning of human and rat brain myo-inositol monophosphatase. Expression and characterization of the human recombinant enzyme. (PMID: 1377913) McAllister G … Ragan CI (The Biochemical journal 1992) 2 3 4 22
  3. A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability. (PMID: 26416544) Figueiredo T … Santos S (Molecular psychiatry 2016) 3 4 72
  4. Genomic structure and chromosomal localization of a human myo-inositol monophosphatase gene (IMPA). (PMID: 9339367) Sjøholt G … Steen VM (Genomics 1997) 3 4 22
  5. Brain inositol monophosphatase identified as a galactose 1-phosphatase. (PMID: 9462881) Parthasarathy R … Vadnal R (Brain research 1997) 3 4 22

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