IMPA1 inositol monophosphatase 1 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:6050
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: mouse all
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Genomic context

Location:: 8q21.13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (81656914..81686325, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (82088505..82118041, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (82569149..82598560, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inositol monophosphatase 1 (IMPA1) promotes triple-negative breast cancer progression through regulating mTOR pathway and EMT process.
Title: Inositol monophosphatase 1 (IMPA1) promotes triple-negative breast cancer progression through regulating mTOR pathway and EMT process.
Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis.
Title: Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis.
Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG. The IMPA1 mutation in the cohort of the current study was associated with severe intellectual disability and disruptive behavior
Title: Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG.
the high-resolution X-ray structure of human IMPase in complex with L690,330 and manganese ions determined at 1.39 A resolution is reported.
Title: Co-crystallization of human inositol monophosphatase with the lithium mimetic L-690,330.
Multibody magnesium cofactor and myo-inositol substrate molecular recognition in the myo-inositol monophosphatase enzyme have been described.
Title: Multibody cofactor and substrate molecular recognition in the myo-inositol monophosphatase enzyme.
The identification of a novel homozygous duplication of 5 bp in IMPA1, in a large consanguineous family with nine individuals with severe intellectual disability and disruptive behavior.
Title: A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.
Comparison of MmIMPase 1 and HsIMPase 1 revealed a core r.m.s. deviation of 0.516 A
Title: Cloning, expression, purification, crystallization and X-ray analysis of inositol monophosphatase from Mus musculus and Homo sapiens.
The current study did not support a substantial role of the upregulation of IMPase in bipolar disorder, although the lithium-insensitivity trait seen in IMPA2 transgenic mice might represent some aspect relevant to the inositol depletion hypothesis.
Title: Behavioral analyses of transgenic mice harboring bipolar disorder candidate genes, IMPA1 and IMPA2.
IMPA2 has a separate function in vivo from that of IMPA1
Title: Spatial expression patterns and biochemical properties distinguish a second myo-inositol monophosphatase IMPA2 from IMPA1.
No association between polymorphisms and bipolar disorder
Title: Examination of IMPA1 and IMPA2 genes in manic-depressive patients: association between IMPA2 promoter polymorphisms and bipolar disorder.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Intellectual disability, autosomal recessive 59 MedGen: C4310619 OMIM: 617323 GeneReviews: Not available	Compare labs

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

EBI GWAS Catalog

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

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S1976 (e-PCR)
- UniSTS:23879

RH91172 (e-PCR)
- UniSTS:86946

SGC35843 (e-PCR)
- UniSTS:60374

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables inositol monophosphate 1-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables inositol monophosphate 1-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables inositol monophosphate 1-phosphatase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables inositol monophosphate phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables lithium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables manganese ion binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in inositol biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in inositol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphate-containing compound metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylinositol biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidylinositol phosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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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

EC 3.1.3.25

EC 3.1.3.94

NP_001138351.1

EC 3.1.3.25

EC 3.1.3.94

NP_005527.1

EC 3.1.3.25

EC 3.1.3.94

NCBI Reference Sequences (RefSeq)

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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

NG_015829.1 RefSeqGene

Range

5030..34441

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001144878.2 → NP_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/TrEMBL

A0A140VJL8

Related

ENSP00000408526.2, ENST00000449740.6

Conserved Domains (1) summary

cd01639
Location:67 → 313

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 ...
NM_001144879.2 → NP_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:8 → 164

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 ...
NM_005536.4 → NP_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

B2R733, B4DLN3, B7Z6Q4, J3KQT7, P29218, Q9UK71

UniProtKB/TrEMBL

H0YBL1

Related

ENSP00000256108.5, ENST00000256108.10

Conserved Domains (1) summary

cd01639
Location:8 → 254

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 recycled ...