IMPA1
Inositol monophosphatase 1
Also known as: IMPA, IMPA1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P29218
- Gene
- IMPA1
- Ensembl
- ENSG00000133731
- Chromosome
- 8
- Canonical length
- 277 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Vesicles,Actin filaments
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
277 residues, UniProt reviewed canonical sequence.
>P29218|IMPA1
1 MADPWQECMD YAVTLARQAG EVVCEAIKNE MNVMLKSSPV DLVTATDQKV EKMLISSIKE
61 KYPSHSFIGE ESVAAGEKSI LTDNPTWIID PIDGTTNFVH RFPFVAVSIG FAVNKKIEFG
121 VVYSCVEGKM YTARKGKGAF CNGQKLQVSQ QEDITKSLLV TELGSSRTPE TVRMVLSNME
181 KLFCIPVHGI RSVGTAAVNM CLVATGGADA YYEMGIHCWD VAGAGIIVTE AGGVLMDVTG
241 GPFDLMSRRV IAANNRILAE RIAKEIQVIP LQRDDEDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against IMPA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.23
- Highest tissue expression
- 36 nTPM
Expression across tissuesHPA
Tissue
- testis: 36 nTPM
- tongue: 27 nTPM
- rectum: 27 nTPM
- bone marrow: 26 nTPM
- colon: 25 nTPM
- liver: 25 nTPM
Single-cell type
- esophageal apical cells: 102 nCPM
- late primary spermatocytes: 97 nCPM
- pituicytes/fscs: 82 nCPM
- colonocytes: 78 nCPM
- megakaryocytes: 74 nCPM
- sertoli cells: 73 nCPM
Immune cell
- basophil: 51 nTPM
- eosinophil: 30 nTPM
- NK-cell: 21 nTPM
- memory B-cell: 20 nTPM
- T-reg: 20 nTPM
- MAIT T-cell: 17 nTPM
Brain region
- cerebral cortex: 36 nTPM
- choroid plexus: 35 nTPM
- white matter: 35 nTPM
- midbrain: 32 nTPM
- medulla oblongata: 31 nTPM
- hypothalamus: 31 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about IMPA1.
Disease | AllUniProt
Conditions IMPA1 is implicated in, by any mechanism.
- Intellectual developmental disorder, autosomal recessive 59 (MRT59) MIM:617323
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 67 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Intellectual disability, autosomal recessive 59
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.88
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.44
- DepMap mean gene effect
- 0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- inositol biosynthetic process
- inositol metabolic process
- phosphate-containing compound metabolic process
- phosphatidylinositol biosynthetic process
- phosphatidylinositol phosphate biosynthetic process
- signal transduction
Molecular functions
- fructose-1-phosphatase activity
- glucose-1-phosphatase activity
- glucose-6-phosphatase activity
- glycerol-2-phosphatase activity
- identical protein binding
- inositol monophosphate 1-phosphatase activity
- inositol monophosphate 3-phosphatase activity
- inositol monophosphate 4-phosphatase activity
- lithium ion binding
- magnesium ion binding
- manganese ion binding
- protein homodimerization activity
- inositol monophosphate phosphatase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of IMPA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads IMPA1 as an antibody target. Whether an autoantibody or antibody against IMPA1 could matter depends on whether native IMPA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
IMPA1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label IMPA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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