This gene encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate. [provided by RefSeq, Jul 2008] See more...

Aliases for INPP1 Gene

Aliases for INPP1 Gene

  • Inositol Polyphosphate-1-Phosphatase 2 3 5
  • Inositol Polyphosphate 1-Phosphatase 3 4
  • IPPase 3 4
  • IPP 3 4
  • EC 3.1.3.57 4
  • INPP1 5

External Ids for INPP1 Gene

Previous GeneCards Identifiers for INPP1 Gene

  • GC02P189402
  • GC02P189911
  • GC02P191172
  • GC02P191410
  • GC02P191033
  • GC02P190916
  • GC02P183068

Summaries for INPP1 Gene

Entrez Gene Summary for INPP1 Gene

  • This gene encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate. [provided by RefSeq, Jul 2008]

GeneCards Summary for INPP1 Gene

INPP1 (Inositol Polyphosphate-1-Phosphatase) is a Protein Coding gene. Diseases associated with INPP1 include Barbiturate Dependence and Bipolar Disorder. Among its related pathways are superpathway of inositol phosphate compounds and Metabolism. Gene Ontology (GO) annotations related to this gene include inositol-1,4-bisphosphate 1-phosphatase activity and inositol-1,3,4-trisphosphate 1-phosphatase activity. An important paralog of this gene is BPNT2.

Gene Wiki entry for INPP1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for INPP1 Gene

Genomics for INPP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for INPP1 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
GH02J190352 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 266.9 +12.8 12823 8.9 NCOR1 IKZF1 SSRP1 ZNF592 KLF9 CEBPA ATF3 NFIC CHD4 YY1 INPP1 HIBCH WDR75 PMS1 MFSD6 HSALNG0021099 HSALNG0021100 NONHSAG030095.2
GH02J190342 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.7 673 3.5 ZNF207 SSRP1 CEBPA ZIC2 CHD4 ZBTB10 YY1 MXD4 CEBPB KLF11 HIBCH INPP1 NONHSAG030095.2 WDR75 OSGEPL1-AS1 HSALNG0021099 MFSD6
GH02J190333 Promoter/Enhancer 1.3 EPDnew ENCODE 250.4 -8.9 -8926 3 IKZF1 ZMYM3 CEBPA ATF3 CHD4 YY1 MXD4 CEBPB KLF11 MBD2 INPP1 HIBCH WDR75 PMS1 C2orf88 HSALNG0021094 MSTN
GH02J190406 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.2 +65.1 65120 3.8 BCLAF1 ZNF600 POLR2A ZIC2 ZBTB10 NONO REST SIN3A ZFP64 MAX MFSD6 HSALNG0021102 NEMP2 LOC105376748 INPP1 piR-61029-087
GH02J190577 Enhancer 1.1 FANTOM5 ENCODE 5.3 +235.6 235638 3.4 NCOR1 IKZF1 ZNF592 ELK1 BHLHE40 ZNF341 KLF7 MAX ZNF217 EP300 HSALNG0021112 MFSD6 NEMP2 LOC105376748 ENSG00000228509 NAB1 INPP1 HSALNG0021109-001 lnc-NAB1-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around INPP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for INPP1

Top Transcription factor binding sites by QIAGEN in the INPP1 gene promoter:
  • AREB6
  • ATF-2
  • FOXI1
  • HFH-3
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • TBP
  • TFIID

Genomic Locations for INPP1 Gene

Latest Assembly
chr2:190,343,570-190,371,665
(GRCh38/hg38)
Size:
28,096 bases
Orientation:
Plus strand

Previous Assembly
chr2:191,208,315-191,236,391
(GRCh37/hg19 by Entrez Gene)
Size:
28,077 bases
Orientation:
Plus strand

chr2:191,208,196-191,236,391
(GRCh37/hg19 by Ensembl)
Size:
28,196 bases
Orientation:
Plus strand

Genomic View for INPP1 Gene

Genes around INPP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INPP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INPP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INPP1 Gene

Proteins for INPP1 Gene

  • Protein details for INPP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49441-INPP_HUMAN
    Recommended name:
    Inositol polyphosphate 1-phosphatase
    Protein Accession:
    P49441

    Protein attributes for INPP1 Gene

    Size:
    399 amino acids
    Molecular mass:
    43998 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer.

neXtProt entry for INPP1 Gene

Post-translational modifications for INPP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Boster Bio Antibodies for INPP1

No data available for DME Specific Peptides for INPP1 Gene

Domains & Families for INPP1 Gene

Gene Families for INPP1 Gene

Suggested Antigen Peptide Sequences for INPP1 Gene

GenScript: Design optimal peptide antigens:
  • Inositol polyphosphate-1-phosphatase (B5BU62_HUMAN)
  • Inositol polyphosphate 1-phosphatase (INPP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49441

UniProtKB/Swiss-Prot:

INPP_HUMAN :
  • Belongs to the inositol monophosphatase superfamily.
Family:
  • Belongs to the inositol monophosphatase superfamily.
genes like me logo Genes that share domains with INPP1: view

Function for INPP1 Gene

Molecular function for INPP1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1D-myo-inositol 1,4-bisphosphate + H2O = 1D-myo-inositol 4-phosphate + phosphate; Xref=Rhea:RHEA:15553, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58282, ChEBI:CHEBI:58469; EC=3.1.3.57;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by Li(+).
GENATLAS Biochemistry:
inositol 1,4,5-triphosphate 1-phosphatase,ubiquitously expressed,with highest levels in kidney and pancreas,inositol signaling pathway,controled by calcineurin

Enzyme Numbers (IUBMB) for INPP1 Gene

Phenotypes From GWAS Catalog for INPP1 Gene

Gene Ontology (GO) - Molecular Function for INPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004441 inositol-1,4-bisphosphate 1-phosphatase activity TAS,IBA 21873635
GO:0005515 protein binding IPI 26871637
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with INPP1: view
genes like me logo Genes that share phenotypes with INPP1: view

Animal Models for INPP1 Gene

MGI Knock Outs for INPP1:
  • Inpp1 Inpp1<tm1a(KOMP)Wtsi>
  • Inpp1 Inpp1<tm1b(KOMP)Wtsi>
  • Inpp1 Inpp1<tm1Yrk>

Animal Models for research

  • Taconic Biosciences Mouse Models for INPP1

miRNA for INPP1 Gene

miRTarBase miRNAs that target INPP1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INPP1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for INPP1 Gene

Localization for INPP1 Gene

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 INPP1 gene
Compartment Confidence
cytosol 5
cytoskeleton 3
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for INPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with INPP1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for INPP1 Gene

Pathways & Interactions for INPP1 Gene

genes like me logo Genes that share pathways with INPP1: view

UniProtKB/Swiss-Prot P49441-INPP_HUMAN

  • Pathway: Signal transduction; phosphatidylinositol signaling pathway.

Gene Ontology (GO) - Biological Process for INPP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006796 phosphate-containing compound metabolic process TAS 8390685
GO:0007165 signal transduction TAS 8390685
GO:0043647 inositol phosphate metabolic process TAS --
GO:0046854 phosphatidylinositol phosphorylation IEA --
GO:0046855 inositol phosphate dephosphorylation IBA 21873635
genes like me logo Genes that share ontologies with INPP1: view

No data available for SIGNOR curated interactions for INPP1 Gene

Drugs & Compounds for INPP1 Gene

(8) Drugs for INPP1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Water Approved Pharma 0
lithium Experimental Pharma 0
Phosphate Experimental Pharma 0

(10) Additional Compounds for INPP1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-myo-Inositol 1,4-bisphosphate
  • D-Myo-inositol 1,4-bisphosphate
  • D-MYO-inositol-1,4-bisphosphATE
  • Inositol 1,4-bisphosphate
  • Myo-inositol 1,4-bisphosphate
  • D-Myo-inositol 1,4-bisphosphoric acid
74465-19-3
D-myo-Inositol 3,4-bisphosphate
  • D-Myo-inositol 3,4-bisphosphate
  • Inositol 3,4-bisphosphate
  • D-Myo-inositol 3,4-bisphosphoric acid
  • Inositol 3,4-bisphosphoric acid
  • 1D-Myo-inositol 3,4-bisphosphoric acid
69256-53-7
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 1,3,4-trisphosphate
  • (1S,3S,4S)-1,3,4-TRIPHOSPHO-myo-inositol
  • D-Myo-inositol 1,3,4-trisphosphate
  • D-Myo-inositol 1,3,4-trisphosphoric acid
  • Inositol 1,3,4-trisphosphoric acid
  • 1,3,4-Itp
98102-63-7
genes like me logo Genes that share compounds with INPP1: view

Transcripts for INPP1 Gene

mRNA/cDNA for INPP1 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
15 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 INPP1

Alternative Splicing Database (ASD) splice patterns (SP) for INPP1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b
SP1: - - -
SP2: - - - -
SP3:
SP4: - - - -
SP5: - - -
SP6: - - -
SP7: - -

Relevant External Links for INPP1 Gene

GeneLoc Exon Structure for
INPP1

Expression for INPP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for INPP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for INPP1 Gene

This gene is overexpressed in Oral epithelium (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for INPP1 Gene



Protein tissue co-expression partners for INPP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for INPP1

SOURCE GeneReport for Unigene cluster for INPP1 Gene:

Hs.32309

mRNA Expression by UniProt/SwissProt for INPP1 Gene:

P49441-INPP_HUMAN
Tissue specificity: Ubiquitously expressed, with highest levels in pancreas and kidney.

Evidence on tissue expression from TISSUES for INPP1 Gene

  • Liver(4.2)
  • Intestine(4.2)
  • Nervous system(4)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with INPP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for INPP1 Gene

Orthologs for INPP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for INPP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia INPP1 29 30
  • 99.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia INPP1 29 30
  • 84.29 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Inpp1 29
  • 82.32 (n)
Mouse
(Mus musculus)
Mammalia Inpp1 29 16 30
  • 81.01 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia INPP1 29 30
  • 76.19 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia INPP1 30
  • 76 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia INPP1 30
  • 49 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia inpp1 29
  • 61.64 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68618 29
Zebrafish
(Danio rerio)
Actinopterygii LOC555899 29
  • 52.99 (n)
CR318593.1 30
  • 46 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001047 29
  • 49.44 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Ipp 29 30 31
  • 49.08 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 39 (a)
OneToOne
Species where no ortholog for INPP1 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for INPP1 Gene

ENSEMBL:
Gene Tree for INPP1 (if available)
TreeFam:
Gene Tree for INPP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for INPP1: view image
Alliance of Genome Resources:
Additional Orthologs for INPP1

Paralogs for INPP1 Gene

Paralogs for INPP1 Gene

Pseudogenes.org Pseudogenes for INPP1 Gene

genes like me logo Genes that share paralogs with INPP1: view

Variants for INPP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for INPP1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs1575788223 Uncertain Significance: Cleft palate; Retinopathy 190,360,171(+) AC/A
NM_001128928.2(INPP1):c.70del (p.Gln24fs)
FRAMESHIFT
rs2067404 Benign: not provided 190,360,201(+) C/T
NM_001128928.2(INPP1):c.99C>T (p.Ile33=)
SYNONYMOUS
rs35616200 -- p.Val355Met
rs7592352 -- p.Thr228Ala

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for INPP1 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 INPP1 Gene

Variant ID Type Subtype PubMed ID
dgv626e201 CNV deletion 23290073
esv2005944 CNV deletion 18987734
esv2131026 CNV deletion 18987734
esv2721265 CNV deletion 23290073
esv2721267 CNV deletion 23290073
nsv215297 CNV insertion 16902084

Variation tolerance for INPP1 Gene

Residual Variation Intolerance Score: 25.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.16; 61.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for INPP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
INPP1
Leiden Open Variation Database (LOVD)
INPP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INPP1 Gene

Disorders for INPP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for INPP1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
barbiturate dependence
bipolar disorder
  • bipolar depression
autism spectrum disorder
  • asd
- elite association - COSMIC cancer census association via MalaCards
Search INPP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for INPP1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with INPP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for INPP1 Gene

Publications for INPP1 Gene

  1. Cloning, heterologous expression, and chromosomal localization of human inositol polyphosphate 1-phosphatase. (PMID: 8390685) York JD … Majerus PW (Proceedings of the National Academy of Sciences of the United States of America 1993) 2 3 4 22
  2. The pharmacogenetics of lithium response depends upon clinical co-morbidity. (PMID: 17570738) Bremer T … Kelsoe JR (Molecular diagnosis & therapy 2007) 3 22 40
  3. Association study of the INPP1, 5HTT, BDNF, AP-2beta and GSK-3beta GENE variants and restrospectively scored response to lithium prophylaxis in bipolar disorder. (PMID: 16787706) Michelon L … Vallada H (Neuroscience letters 2006) 3 22 40
  4. Manic-depressive illness: an association study with the inositol polyphosphate 1-phosphatase and serotonin transporter genes. (PMID: 11901356) Piccardi MP … Del Zompo M (Psychiatric genetics 2002) 3 22 40
  5. Genomic structure and sequence analysis of a human inositol polyphosphate 1-phosphatase gene (INPP1). (PMID: 10780272) Løvlie R … Steen VM (Pharmacogenetics 1999) 3 4 22

Products for INPP1 Gene

Sources for INPP1 Gene