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IMPA1 inositol monophosphatase 1 [ Homo sapiens (human) ]

Gene ID: 3612, updated on 20-Jan-2019

Summary

Official Symbol
IMPA1provided by HGNC
Official Full Name
inositol monophosphatase 1provided by HGNC
Primary source
HGNC:HGNC:6050
See related
Ensembl:ENSG00000133731 MIM:602064
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IMP; IMPA; MRT59
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 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]
Expression
Ubiquitous expression in testis (RPKM 15.5), thyroid (RPKM 10.4) and 24 other tissues See more
Orthologs

Genomic context

See IMPA1 in Genome Data Viewer
Location:
8q21.13
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (81656916..81686354, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (82569151..82599029, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene inositol monophosphatase 1 pseudogene 1 Neighboring gene ribosomal protein S26 pseudogene 34 Neighboring gene SLC10A5 pseudogene 1 Neighboring gene solute carrier family 10 member 5 Neighboring gene zinc finger AN1-type containing 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation, autosomal recessive 59
MedGen: C4310619 OMIM: 617323 GeneReviews: Not available
not available

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-02-08)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-02-08)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
inositol monophosphate 1-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol monophosphate 1-phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
inositol monophosphate 1-phosphatase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
inositol monophosphate 1-phosphatase activity TAS
Traceable Author Statement
more info
 
inositol monophosphate 3-phosphatase activity TAS
Traceable Author Statement
more info
 
inositol monophosphate 4-phosphatase activity TAS
Traceable Author Statement
more info
 
inositol monophosphate phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
lithium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
manganese ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
inositol biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
inositol phosphate dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol phosphate dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
inositol phosphate metabolic process TAS
Traceable Author Statement
more info
 
phosphate-containing compound metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphatidylinositol biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphatidylinositol phosphorylation IEA
Inferred from Electronic Annotation
more info
 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
inositol monophosphatase 1
Names
D-galactose 1-phosphate phosphatase
IMP 1
IMPase 1
inositol(myo)-1(or 4)-monophosphatase 1
inositol-1(or 4)-monophosphatase 1
lithium-sensitive myo-inositol monophosphatase A1
myo-inositol monophosphatase 1
testicular tissue protein Li 94
NP_001138350.1
NP_001138351.1
NP_005527.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015829.1 RefSeqGene

    Range
    5001..34439
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001144878.1NP_001138350.1  inositol monophosphatase 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an additional in-frame coding exon compared to transcript variant 1, resulting in an isoform (2) with a longer and a novel N-terminus compared to isoform 1.
    Source sequence(s)
    AC090255, AF042729, AI921211, AK300750, BC008381, BP270804, DB299262, DC375686
    Consensus CDS
    CCDS47883.1
    UniProtKB/Swiss-Prot
    P29218
    UniProtKB/TrEMBL
    A0A140VJL8
    Related
    ENSP00000408526.2, ENST00000449740.6
    Conserved Domains (1) summary
    cd01639
    Location:67313
    IMPase; IMPase, inositol monophosphatase and related domains. A family of Mg++ dependent phosphatases, inhibited by lithium, many of which may act on inositol monophosphate substrate. They dephosphorylate inositol phosphate to generate inositol, which may be ...
  2. NM_001144879.1NP_001138351.1  inositol monophosphatase 1 isoform 3

    See identical proteins and their annotated locations for NP_001138351.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is missing an internal coding exon compared to transcript variant 1. This results in a frame-shift and a shorter isoform (3) with a novel C-terminus compared to isoform 1.
    Source sequence(s)
    AC090255, AF042729, AI921211, AK297078, BC008381, DB299262, DC375686
    Consensus CDS
    CCDS47884.1
    UniProtKB/Swiss-Prot
    P29218
    Related
    ENSP00000311803.4, ENST00000311489.8
    Conserved Domains (1) summary
    cd01639
    Location:8164
    IMPase; IMPase, inositol monophosphatase and related domains. A family of Mg++ dependent phosphatases, inhibited by lithium, many of which may act on inositol monophosphate substrate. They dephosphorylate inositol phosphate to generate inositol, which may be ...
  3. NM_005536.4NP_005527.1  inositol monophosphatase 1 isoform 1

    See identical proteins and their annotated locations for NP_005527.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1.
    Source sequence(s)
    AC090255, AF042729, AI921211, BC008381, DB299262, DC375686
    Consensus CDS
    CCDS6231.1
    UniProtKB/Swiss-Prot
    P29218
    UniProtKB/TrEMBL
    A0A024R830
    Related
    ENSP00000256108.5, ENST00000256108.9
    Conserved Domains (1) summary
    cd01639
    Location:8254
    IMPase; IMPase, inositol monophosphatase and related domains. A family of Mg++ dependent phosphatases, inhibited by lithium, many of which may act on inositol monophosphate substrate. They dephosphorylate inositol phosphate to generate inositol, which may be ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    81656916..81686354 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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