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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

INPP5A Gene

protein-coding   GIFtS: 62
GCID: GC10P134351

Inositol Polyphosphate-5-Phosphatase, 40kDa

(Previous names: inositol polyphosphate-5-phosphatase, 40kD)
  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)
About This Section

Aliases
Inositol Polyphosphate-5-Phosphatase, 40kDa1 2     Type I Inositol-11
43 KDa Inositol Polyphosphate 5-Phophatase1 2     5PTASE2
CTCL Tumor Antigen HD-CL-021 2     Inositol Trisphosphate-5-Phosphatase, 40kD2
InsP3 5-Phosphatase1 2     Type I Inositol 1,4,5-Trisphosphate 5-Phosphatase2
41     Type I Inositol-1,4,5-Trisphosphate 5-Phophatase2
40kDa1     Type I Inositol-1,4,5-Trisphosphate 5-Phosphatase2
5-Trisphosphate 5-Phosphatase1     5PTase3
Inositol Polyphosphate 5-Phophatase1     EC 3.1.3.563
Inositol Polyphosphate-5-Phosphatase, 40kD1     

External Ids:    HGNC: 60761   Entrez Gene: 36322   Ensembl: ENSG000000683837   OMIM: 6001065   UniProtKB: Q146423   

Export aliases for INPP5A gene to outside databases

Previous GC identifers: GC10P133261 GC10P133484 GC10P134228 GC10P133786 GC10P133785 GC10P134201 GC10P127903


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for INPP5A Gene:
The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3)
5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a
second messenger mediating cell responses to various stimulation. (provided by RefSeq, Jul 2008)

GeneCards Summary for INPP5A Gene: 
INPP5A (inositol polyphosphate-5-phosphatase, 40kDa) is a protein-coding gene. Diseases associated with INPP5A include oculocerebrorenal syndrome, and olivopontocerebellar atrophy, and among its related super-pathways are D-myo-inositol (1,3,4)-trisphosphate biosynthesis and Phosphatidylinositol signaling system. GO annotations related to this gene include inositol-polyphosphate 5-phosphatase activity and PH domain binding.

UniProtKB/Swiss-Prot: I5P1_HUMAN, Q14642
Function: Major isoenzyme hydrolyzing the calcium-mobilizing second messenger Ins(1,4,5)P3, this is a
signal-terminating reaction

Gene Wiki entry for INPP5A 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_008818.16  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the INPP5A gene promoter:
         COUP-TF1   COUP   AP-2gamma   HNF-4alpha1   Arnt   COUP-TF   POU2F1   POU2F1a   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidINPP5A promoter sequence
   Search SABiosciences Chromatin IP Primers for INPP5A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat INPP5A


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

Entrez Gene cytogenetic band: 10q26.3   Ensembl cytogenetic band:  10q26.3   HGNC cytogenetic band: 10q26.3

INPP5A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
INPP5A gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P134351:  view genomic region     (about GC identifiers)

Start:
134,351,324 bp from pter      End:
134,596,984 bp from pter
Size:
245,661 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: I5P1_HUMAN, Q14642 (See protein sequence)
Recommended Name: Type I inositol 1,4,5-trisphosphate 5-phosphatase precursor  
Size: 412 amino acids; 47820 Da
Subcellular location: Membrane; Lipid-anchor
Secondary accessions: D3DXI3 Q14640 Q5JSF1

Explore the universe of human proteins at neXtProt for INPP5A: NX_Q14642

Explore proteomics data for INPP5A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14642

  • INPP5A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    INPP5A Protein Expression
    REFSEQ proteins: NP_005530.3  
    ENSEMBL proteins: 
     ENSP00000357583   ENSP00000357582   ENSP00000390936   ENSP00000340707   ENSP00000390749  
    Reactome Protein details: Q14642
    Human Recombinant Protein Products for INPP5A: 
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for INPP5A 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane NAS8006039

    INPP5A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: INPP5A 
    Inositol polyphosphate phosphatases

    2 InterPro protein domains:
     IPR000300 IPPc
     IPR005135 Endo/exonuclease/phosphatase

    Graphical View of Domain Structure for InterPro Entry Q14642

    ProtoNet protein and cluster: Q14642

    1 Blocks protein domain: IPB000300 Inositol polyphosphate related phosphatase family

    UniProtKB/Swiss-Prot: I5P1_HUMAN, Q14642
    Similarity: Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type I family


    INPP5A 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: I5P1_HUMAN, Q14642
    Function: Major isoenzyme hydrolyzing the calcium-mobilizing second messenger Ins(1,4,5)P3, this is a
    signal-terminating reaction
    Catalytic activity: D-myo-inositol 1,4,5-trisphosphate + H(2)O = myo-inositol 1,4-bisphosphate + phosphate
    Catalytic activity: 1D-myo-inositol 1,3,4,5-tetrakisphosphate + H(2)O = 1D-myo-inositol 1,3,4-trisphosphate +
    phosphate

         Genatlas biochemistry entry for INPP5A:
    inositol 1,4,5-triphosphate 5-phosphatase (43kDa) membrane-associated,predominantly expressed in
    heart,brain,skeletal,muscle,signal terminating reaction in the inositol signaling pathway

         Enzyme Number (IUBMB): EC 3.1.3.561

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004445inositol-polyphosphate 5-phosphatase activity NAS8006039
    GO:0005515protein binding IPI8999861
    GO:0042731PH domain binding IPI8999861
    GO:0052658inositol-1,4,5-trisphosphate 5-phosphatase activity IEA--
    GO:0052659inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity IEA--
         
    INPP5A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for INPP5A:
     Increased Erk phosphorylation  

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Inpp5a):
     mortality/aging 

    INPP5A for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for INPP5A 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for INPP5A 
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    SwitchGear 3'UTR luciferase reporter plasmidINPP5A 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for INPP5A About                                                                                                See pathways by source

    SuperPathContained pathways About
    1D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    D-myo-inositol (1,3,4)-trisphosphate biosynthesis0.76
    D-myo-inositol (1,4,5)-trisphosphate degradation0.65
    1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)0.76
    Synthesis of IP2, IP, and Ins in the cytosol0.50
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism0.75
    2Inositol phosphate metabolism
    Inositol phosphate metabolism0.61
    superpathway of inositol phosphate compounds0.60
    Phosphatidylinositol signaling system0.61
    3Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    4Synthesis of IP3 and IP4 in the cytosol
    Inositol phosphate metabolism0.57

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for INPP5A
        D-myo-inositol (1,4,5)-trisphosphate degradation
    1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
    D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism
    superpathway of inositol phosphate compounds

    3        Reactome Pathways for INPP5A
        Synthesis of IP2, IP, and Ins in the cytosol
    Metabolism
    Inositol phosphate metabolism


    3         Kegg Pathways  (Kegg details for INPP5A):
        Inositol phosphate metabolism
    Metabolic pathways
    Phosphatidylinositol signaling system


    INPP5A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for INPP5A

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

    5/26 Interacting proteins for INPP5A (Q146422, 3 ENSP000003575834) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLEKP085672, 3, ENSP000002343134MINT-8216777 MINT-8216799 MINT-8216808 MINT-8216788 I2D: score=2 STRING: ENSP00000234313
    YWHAZP631043, ENSP000003095034I2D: score=2 STRING: ENSP00000309503
    GRB2P629933I2D: score=1 
    INPP1ENSP000003254234STRING: ENSP00000325423
    IPMKENSP000003630464STRING: ENSP00000363046
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007154cell communication NAS--
    GO:0043647inositol phosphate metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0046856phosphatidylinositol dephosphorylation IEA--

    INPP5A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    INPP5A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for INPP5A (I5P1)

    7 HMDB Compounds for INPP5A    About this table
    CompoundSynonyms CAS #PubMed Ids
    1D-Myo-inositol 1,4-bisphosphate1D-Myo-inositol 1,4-bisphosphate (see all 5)47055-78-7--
    CalciumCa (see all 2)7440-70-2--
    Inositol 1,3,4,5-tetraphosphate1,3,4,5-tetrakis(dihydrogen phosphate) myo-Inositol (see all 16)102850-29-3--
    Inositol 1,3,4-trisphosphate1,3,4-Itp (see all 8)98102-63-7--
    Inositol 1,4,5-trisphosphate1D-myo-Inositol 1,4,5-trisphosphate (see all 4)88269-39-0--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    2 Novoseek inferred chemical compound relationships for INPP5A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inositol 1,4-bisphosphate 90.3 3 9369305 (1), 7738477 (1), 8536709 (1)
    inositol 1,4,5 trisphosphate 79.2 21 7738477 (3), 11130077 (2), 8536709 (2), 1693074 (1) (see all 8)

    Search CenterWatch for drugs/clinical trials and news about INPP5A / I5P1

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for INPP5A gene: 
    NM_005539.3  

    Unigene Cluster for INPP5A:

    Inositol polyphosphate-5-phosphatase, 40kDa
    Hs.523360  [show with all ESTs]
    Unigene Representative Sequence: NM_005539
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368594(uc001llp.3 uc001llq.3) ENST00000368593(uc001llo.1)
    ENST00000423490 ENST00000342652 ENST00000487614 ENST00000498337 ENST00000445580

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    Additional mRNA sequence: 

    AF273055.1 BC052265.1 BC062300.1 BC096280.2 BC096281.2 BC117515.1 X77567.1 Z31695.1 

    12 DOTS entries:

    DT.218519  DT.100775872  DT.100775871  DT.100021035  DT.121299250  DT.75199958  DT.95088315  DT.121299338 
    DT.86847113  DT.92422239  DT.40120534  DT.92422244 

    24/165 AceView cDNA sequences (see all 165):

    BC052265 BF739865 AW191062 AI151146 BU845538 BC062300 BM695147 BU956491 
    BM801526 F08863 BU620656 CR597084 T28893 BM721546 AW948964 R84249 
    CA391843 NM_005539 AI192853 AI128924 CA313594 AI192189 BM810416 T99005 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for INPP5A    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16
    SP1:                                                                                -                     
    SP2:                                                                                                      
    SP3:                                                        -     -                 -                     


    ECgene alternative splicing isoforms for INPP5A

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    INPP5A expression in normal human tissues (normalized intensities)      INPP5A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCATAACCTT
    INPP5A Expression
    About this image


    INPP5A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/31 selected tissues (see all 31) fully expand
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   

    See INPP5A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for INPP5A

    SOURCE GeneReport for Unigene cluster: Hs.523360

    UniProtKB/Swiss-Prot: I5P1_HUMAN, Q14642
    Tissue specificity: Brain; high level in Purkinje cells

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INPP5A

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for INPP5A gene from 7/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Inpp5a1 , 5 inositol polyphosphate-5-phosphatase A1, 5 90.21(n)1
    97.09(a)1
      7 (84.57 cM)5
    2121111  NM_001127363.11  NP_001120835.11 
     1393891095 
    chicken
    (Gallus gallus)
    Aves INPP5A1 inositol polyphosphate-5-phosphatase, 40kDa 82.86(n)
    93.28(a)
      423973  XM_421831.3  XP_421831.3 
    lizard
    (Anolis carolinensis)
    Reptilia INPP5A6
    inositol polyphosphate-5-phosphatase, 40kDa
    91(a)
    1 ↔ 1
    3(58838256-59159485)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.81912 Xenopus laevis transcribed sequence with moderate similarity more 75.76(n)    BJ068883.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BM342331.12   -- 68.87(n)    BM342331.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta 5PtaseI1 5PtaseI 53.75(n)
    48.17(a)
      326119  NM_001144636.1  NP_001138108.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ipp-51 Protein IPP-5 50(n)
    42.97(a)
      180871  NM_076607.5  NP_509008.2 


    ENSEMBL Gene Tree for INPP5A (if available)
    TreeFam Gene Tree for INPP5A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5944 SNPs in INPP5A are shown (see all 5944)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1125136141,2
    C--134349358(+) TTTACC/TTCTCA 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs798041141,2
    C,F--134349372(+) TTCTGG/AGGGCT 1 -- us2k11Minor allele frequency- A:0.04EA 120
    rs1142568881,2
    F--134349538(+) TATTGC/TACGAC 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1909360971,2
    --134349672(+) GGGGCA/GGGCGG 1 -- us2k10--------
    rs741639661,2
    C,F--134349965(+) CTAGAG/ACCCAT 1 -- us2k12Minor allele frequency- A:0.10WA 120
    rs1153580531,2
    C,F--134350022(+) GAGTGC/TCTGCT 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1823710731,2
    --134350150(+) GTTAAA/GTTCTG 1 -- us2k10--------
    rs1878610771,2
    --134350194(+) TTAAGC/TAAAAC 1 -- us2k10--------
    rs1181867841,2
    C,F--134350334(+) GCCTCA/TGACCC 1 -- us2k11Minor allele frequency- T:0.04EA 120
    rs1428354941,2
    --134350367(+) CCCTCA/CGGCGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for INPP5A (134351324 - 134596984 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/103 variations for INPP5A (see all 103):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv138e201CNV Deletion23290073
    esv2743718CNV Deletion23290073
    esv2743709CNV Deletion23290073
    esv1420103CNV Deletion17803354
    esv1043694CNV Deletion17803354
    esv2743712CNV Deletion23290073
    esv992316CNV Deletion20482838
    esv2743729CNV Deletion23290073
    esv2743694CNV Deletion23290073
    esv1197964CNV Deletion17803354

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600106    OMIM disorders: --

    5 diseases for INPP5A:    About MalaCards
    oculocerebrorenal syndrome    olivopontocerebellar atrophy    fanconi syndrome    schizophrenia
    squamous cell carcinoma

    2 diseases from the University of Copenhagen DISEASES database for INPP5A:
    Oculocerebrorenal syndrome     Fanconi syndrome

    INPP5A for disorders           About GeneDecksing


    Export disorders for INPP5A 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)
    About This Section

    PubMed articles for INPP5A gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with INPP5A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and expression of human brain type I inositol 1,4,5- trisphosphate 5-phosphatase. High levels of mRNA in cerebellar Purkinje cells. (PubMed id 8013665)1, 2, 3, 9 de Smedt F.... Erneux C. (1994)
    2. 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. (2004)
    3. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    4. Characterization of a cDNA encoding the 43-kDa membrane-associated inositol-polyphosphate 5-phosphatase. (PubMed id 8006039)1, 2 Laxminarayan K.M.... Mitchell C.A. (1994)
    5. Chromosomal mapping of the gene (INPP5A) encoding the 43-kDa membrane-associated inositol polyphosphate 5-phosphatase to 10q26.3 by fluorescence in situ hybridization. (PubMed id 8808294)1, 9 Mitchell C.A....Sutherland G.R. (1996)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Exome sequencing supports a de novo mutational paradi gm for schizophrenia. (PubMed id 21822266)1 Xu B....Karayiorgou M. (2011)
    9. Loss of inositol polyphosphate 5-phosphatase is an ea rly event in development of cutaneous squamous cell carcinoma. (PubMed id 20876729)1 Sekulic A....Bittner M. (2010)
    10. SEREX identification of new tumour-associated antigens in cutaneous T-cell lymphoma. (PubMed id 14996095)1 Hartmann T.B.... Eichmueller S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (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)
    About This Section
    Entrez Gene: 3632 HGNC: 6076 AceView: INPP5A Ensembl:ENSG00000068383 euGenes: HUgn3632
    ECgene: INPP5A Kegg: 3632 H-InvDB: INPP5A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for INPP5A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for INPP5A gene:
    Search GeneIP for patents involving INPP5A

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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