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INPP1 Gene

protein-coding   GIFtS: 62
GCID: GC02P191172

Inositol Polyphosphate-1-Phosphatase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Inositol Polyphosphate-1-Phosphatase1 2
IPP2 3
IPPase2 3
Inositol Polyphosphate 1-Phosphatase2
EC 3.1.3.573

External Ids:    HGNC: 60711   Entrez Gene: 36282   Ensembl: ENSG000001516897   OMIM: 1472635   UniProtKB: P494413   

Export aliases for INPP1 gene to outside databases

Previous GC identifers: GC02P189402 GC02P189911 GC02P191410 GC02P191033 GC02P190916 GC02P183068


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 loeys-dietz syndrome, and bipolar disorder. GO annotations related to this gene include inositol-1,3,4-trisphosphate 1-phosphatase activity and inositol-1,4-bisphosphate 1-phosphatase activity.

Gene Wiki entry for INPP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the INPP1 gene promoter:
         HFH-3   HOXA9B   HOXA9   TBP   ATF-2   Meis-1b   FOXI1   AREB6   TFIID   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidINPP1 promoter sequence
   Search Chromatin IP Primers for INPP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat INPP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q32   Ensembl cytogenetic band:  2q32.2   HGNC cytogenetic band: 2q32

INPP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
INPP1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P191172:  view genomic region     (about GC identifiers)

Start:
191,208,196 bp from pter      End:
191,236,391 bp from pter
Size:
28,196 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: INPP_HUMAN, P49441 (See protein sequence)
Recommended Name: Inositol polyphosphate 1-phosphatase  
Size: 399 amino acids; 43998 Da
Cofactor: Magnesium
Subunit: Monomer (By similarity)

Explore the universe of human proteins at neXtProt for INPP1: NX_P49441

Explore proteomics data for INPP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See INPP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001122400.1  NP_002185.1  

    ENSEMBL proteins: 
     ENSP00000325423   ENSP00000415014   ENSP00000391415   ENSP00000409786   ENSP00000404732  
     ENSP00000392814   ENSP00000395424   ENSP00000410662   ENSP00000387079   ENSP00000412119  
     ENSP00000376142   ENSP00000440650  
    Reactome Protein details: P49441

    INPP1 Human Recombinant Protein Products:

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    Novus Biologicals INPP1 Proteins
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    INPP1 Antibody Products:

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    Cloud-Clone Corp. CLIAs for INPP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: INPP1
    Inositol polyphosphate phosphatases

    3 InterPro protein domains:
     IPR020550 Inositol_monophosphatase_CS
     IPR000760 Inositol_monophosphatase
     IPR020583 Inositol_monoP_metal-BS

    Graphical View of Domain Structure for InterPro Entry P49441

    ProtoNet protein and cluster: P49441

    UniProtKB/Swiss-Prot: INPP_HUMAN, P49441
    Similarity: Belongs to the inositol monophosphatase family


    INPP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: INPP_HUMAN, P49441
    Catalytic activity: 1D-myo-inositol 1,4-bisphosphate + H(2)O = 1D-myo-inositol 4-phosphate + phosphate
    Enzyme regulation: Inhibited by Li(+)

         Genatlas biochemistry entry for INPP1:
    inositol 1,4,5-triphosphate 1-phosphatase,ubiquitously expressed,with highest levels in kidney and
    pancreas,inositol signaling pathway,controled by calcineurin

         Enzyme Number (IUBMB): EC 3.1.3.571

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004441inositol-1,4-bisphosphate 1-phosphatase activity TAS--
    GO:0046872metal ion binding IEA--
    GO:0052829inositol-1,3,4-trisphosphate 1-phosphatase activity TAS--
         
    INPP1 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Inpp1):
     immune system  no phenotypic analysis 

    INPP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Inpp1tm1Yrk for INPP1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for INPP1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for INPP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for INPP1

    miRNA
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    miRTarBase miRNAs that target INPP1:
    hsa-mir-21-5p (MIRT030826), hsa-mir-222-3p (MIRT046572)

    Block miRNA regulation of human, mouse, rat INPP1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate INPP1:
    hsa-miR-498 hsa-miR-27a hsa-miR-616* hsa-miR-3148 hsa-miR-27b hsa-miR-373*
    SwitchGear 3'UTR luciferase reporter plasmidINPP1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat INPP1

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INPP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    INPP1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for INPP1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism (KEGG)
    Inositol phosphate metabolism0.61
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism0.00
    Phosphatidylinositol signaling system0.61
    D-myo-inositol (1,4,5)-trisphosphate degradation0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Inositol phosphate metabolism (REACTOME)
    Inositol phosphate metabolism0.59
    Synthesis of IP2, IP, and Ins in the cytosol0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for INPP1
        D-myo-inositol (1,4,5)-trisphosphate degradation
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism

    1 Reactome Pathway for INPP1
        Synthesis of IP2, IP, and Ins in the cytosol


    3 Kegg Pathways  (Kegg details for INPP1):
        Inositol phosphate metabolism
    Metabolic pathways
    Phosphatidylinositol signaling system

    UniProtKB/Swiss-Prot: INPP_HUMAN, P49441
    Pathway: Signal transduction; phosphatidylinositol signaling pathway


    INPP1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for INPP1
    Interactions:

        GeneGlobe Interaction Network for INPP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for INPP1 (P494412, 3 ENSP000003254234) via UniProtKB, MINT, STRING, and/or I2D (see all 30)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    LIG1P188582, 3, ENSP000002632744MINT-63777 I2D: score=4 STRING: ENSP00000263274
    DYNLL1P631672, 3, ENSP000002425774MINT-8258756 I2D: score=2 STRING: ENSP00000242577
    KCNMA1Q127913I2D: score=1 
    IMPA1ENSP000004085264STRING: ENSP00000408526
    IMPA2ENSP000002691594STRING: ENSP00000269159
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006796phosphate-containing compound metabolic process TAS8390685
    GO:0007165signal transduction TAS8390685
    GO:0016311dephosphorylation TAS8390685
    GO:0043647inositol phosphate metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    INPP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for INPP1 (INPP)

    8 HMDB Compounds for INPP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    1D-Myo-inositol 1,4-bisphosphate1D-Myo-inositol 1,4-bisphosphate (see all 5)47055-78-7--
    1D-Myo-inositol 3,4-bisphosphate1D-myo-inositol 3,4-bis(dihydrogen phosphate) (see all 3)103597-56-4--
    D-Myo-inositol 4-phosphate1D-myo-inositol 4-monophosphate (see all 7)46495-39-0--
    Inositol 1,3,4-trisphosphate1,3,4-Itp (see all 8)98102-63-7--
    LithiumLi (see all 5)7439-93-2--
    MagnesiumMagnesium (see all 2)7439-95-4--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Selected Novoseek inferred chemical compound relationships for INPP1 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inositol 1,4-bisphosphate 80.2 1 8390685 (1)
    lithium 78.3 24 10780272 (4), 19442155 (3), 11966408 (1), 16787706 (1) (see all 11)
    inositol 75.7 21 19077168 (2), 19442155 (2), 10780272 (1), 15136794 (1) (see all 8)
    inositol monophosphate 65.7 2 7761465 (1), 7946962 (1)
    abscisic acid 47 1 11485991 (1)
    fructose 45.8 3 15471909 (1), 7761465 (1), 15136794 (1)
    glycogen 40.9 6 19442155 (2), 15471909 (1), 15136794 (1)
    phosphatidylinositol 33.7 3 8390685 (1), 2225061 (1), 10747296 (1)
    adenylate 32.8 1 15136794 (1)
    inositol 1,4,5 trisphosphate 32.6 1 8390685 (1)



    INPP1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for INPP1 gene (2 alternative transcripts): 
    NM_001128928.1  NM_002194.3  

    Unigene Cluster for INPP1:

    Inositol polyphosphate-1-phosphatase
    Hs.32309  [show with all ESTs]
    Unigene Representative Sequence: NM_001128928
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000322522 ENST00000430311 ENST00000413239 ENST00000431594 ENST00000444194
    ENST00000422454 ENST00000417336 ENST00000458647 ENST00000423767 ENST00000451089
    ENST00000409027 ENST00000458193 ENST00000487628 ENST00000470892 ENST00000392329(uc002ury.4 uc010fsb.3 uc002urx.4)
    ENST00000541441
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate INPP1:
    hsa-miR-498 hsa-miR-27a hsa-miR-616* hsa-miR-3148 hsa-miR-27b hsa-miR-373*
    SwitchGear 3'UTR luciferase reporter plasmidINPP1 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat INPP1

    Additional mRNA sequence: 

    AB451298.1 AK093560.1 BC015496.1 BC106006.1 CR456840.1 CR541707.1 L08488.1 

    17 DOTS entries:

    DT.97790339  DT.95278281  DT.417487  DT.100789842  DT.99993704  DT.95278280  DT.100789838  DT.121008459 
    DT.75103259  DT.92429303  DT.121008318  DT.121008405  DT.95278284  DT.121008457  DT.121008463  DT.95116937 
    DT.95278283 

    Selected AceView cDNA sequences (see all 146):

    AI819385 AI632636 BC015496 BU733850 AI693245 BF589681 AA338777 AI702388 
    AW162431 CR600162 AA960752 BG253592 CR541707 BM827910 BF594794 CR456840 
    AA437193 BU935243 AW015766 CF597171 BM512305 AA968796 BI754802 CD368491 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for INPP1 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for INPP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    INPP1 expression in normal human tissues (normalized intensities)      INPP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCAATTAA
    INPP1 Expression
    About this image


    INPP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Eye (Sensory Organs)
             Retina
     
     Testis (Reproductive System)
     
     Esophagus (Gastrointestinal Tract)
    INPP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    INPP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.32309

    UniProtKB/Swiss-Prot: INPP_HUMAN, P49441
    Tissue specificity: Ubiquitously expressed, with highest levels in pancreas and kidney

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INPP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for INPP1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Inpp11 , 5 inositol polyphosphate-1-phosphatase1, 5 81.01(n)1
    81.77(a)1
      1 (26.99 cM)5
    163291  NM_008384.21  NP_032410.21 
     527894135 
    lizard
    (Anolis carolinensis)
    Reptilia INPP16
    inositol polyphosphate-1-phosphatase
    49(a)
    1 ↔ 1
    2(93942418-93948207)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686182 hypothetical protein MGC68618 74.79(n)    BC059974.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5558991 inositol polyphosphate 1-phosphatase-like 52.99(n)
    48.79(a)
      555899  XM_005155659.1  XP_005155716.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ipp1 , 3 inositol-1,4-bisphosphate
    1-phosphatase3
    Inositol polyphosphate 1-phosphatase1
    38(a)3
    49.08(n)1
    42.27(a)1
      88A33
    417011  NM_169562.11  NP_731872.11 


    ENSEMBL Gene Tree for INPP1 (if available)
    TreeFam Gene Tree for INPP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for INPP1 gene

    INPP1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for INPP1
    PGOHUM00000239472


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for INPP1 (see all 683)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1905785711,2
    --191206423(+) AGAAAC/GTACTT 2 -- us2k10--------
    rs20673831,2
    C--191206624(+) AGTTGC/TTCAGG 2 -- us2k112Minor allele frequency- T:0.09NA WA CSA EA 374
    rs1827544391,2
    --191206734(+) GATTCC/TGCCAG 2 -- us2k10--------
    rs1474762211,2
    C--191206937(+) TTGAAC/TGAAGG 2 -- us2k10--------
    rs1870380281,2
    --191206954(+) AGGTTA/GCAGTG 2 -- us2k10--------
    rs1928154241,2
    --191207006(+) TGAGAC/TTCTAT 2 -- us2k10--------
    rs2011434281,2
    C--191207021(+) AAAAT-/AAAAAA 2 -- us2k10--------
    rs20673841,2
    C--191207032(+) AAGAA-/AAGAAAA 2 -- us2k11Minor allele frequency- AA:0.00NA 2
    rs1845369561,2
    --191207083(+) ACCCTC/GTCTTC 2 -- us2k10--------
    rs1878276501,2
    --191207127(+) TTCTTC/TCACCT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for INPP1 (191208196 - 191236391 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for INPP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2131026CNV Deletion18987734
    esv2721267CNV Deletion23290073
    esv2721265CNV Deletion23290073
    esv2005944CNV Deletion18987734
    dgv669e201CNV Deletion23290073
    nsv215297CNV Insertion16902084

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing INPP1
    DNA2.0 Custom Variant and Variant Library Synthesis for INPP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 147263    OMIM disorders: --

    7 diseases for INPP1:    About MalaCards
    loeys-dietz syndrome    bipolar disorder    mood disorder    autism spectrum disorder
    insulin resistance    colorectal cancer    malaria

    1 disease from the University of Copenhagen DISEASES database for INPP1:
    Loeys-Dietz syndrome

    INPP1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for INPP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bipolar disorder 67.9 3 11901356 (1), 16787706 (1), 19442155 (1)

    Genetic Association Database (GAD): INPP1
    Human Genome Epidemiology (HuGE) Navigator: INPP1 (8 documents)

    Export disorders for INPP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for INPP1 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with INPP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, heterologous expression, and chromosomal localization of human inositol polyphosphate 1-phosphatase. (PubMed id 8390685)1, 2, 3, 9 York J.D.... Majerus P.W. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    2. Genomic structure and sequence analysis of a human inositol polyphosphate 1-phosphatase gene (INPP1). (PubMed id 10780272)1, 2, 9 Lovlie R.... Steen V.M. (Pharmacogenetics 1999)
    3. Manic-depressive illness: an association study with the inositol polyphosphate 1-phosphatase and serotonin transporter genes. (PubMed id 11901356)1, 4, 9 Piccardi M.P....Del Zompo M. (Psychiatr. Genet. 2002)
    4. The pharmacogenetics of lithium response depends upon clinical co-morbidity. (PubMed id 17570738)1, 4, 9 Bremer T....Kelsoe J.R. (amp 2007)
    5. Association study of the INPP1, 5HTT, BDNF, AP-2beta and GSK-3beta GENE variants and restrospectively scored response to lithium prophylaxis in bipolar disorder. (PubMed id 16787706)1, 4, 9 Michelon L....Vallada H. (Neurosci. Lett. 2006)
    6. The polymorphic inositol polyphosphate 1-phosphatase gene as a candidate for pharmacogenetic prediction of lithium-responsive manic- depressive illness. (PubMed id 9682271)1, 2, 9 Steen V.M....Gulbrandsen A.K. (Pharmacogenetics 1998)
    7. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    8. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (Biol. Psychiatry 2009)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Evidence for genetic epistasis in human insulin resistance: the combined effect of PC-1 (K121Q) and PPARgamma2 (P12A) polymorphisms. (PubMed id 14574455)1, 4 Baratta R....Trischitta V. (J. Mol. Med. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3628 HGNC: 6071 AceView: INPP1 Ensembl:ENSG00000151689 euGenes: HUgn3628
    ECgene: INPP1 Kegg: 3628 H-InvDB: INPP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for INPP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for INPP1 gene:
    Search GeneIP for patents involving INPP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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