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IMPAD1 Gene

protein-coding   GIFtS: 57
GCID: GC08M057870

Inositol Monophosphatase Domain Containing 1

  See IMPAD1-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 Monophosphatase Domain Containing 11 2     IMPase 32 3
IMPA32 3 5     EC 3.1.3.253 8
Golgi-Resident PAP Phosphatase2 3     GPAPP2 5
Inositol Monophosphatase Domain-Containing Protein 12 3     IMP-32
Inositol-1(Or 4)-Monophosphatase 32 3     Inositol Monophosphatase 32
Myo-Inositol Monophosphatase A32 3     EC 3.1.3.73
Golgi 3-Prime Phosphoadenosine 5-Prime Phosphate 3-Prime Phosphatase2 3     gPAPP3
IMP 32 3     EC 3.1.38

External Ids:    HGNC: 260191   Entrez Gene: 549282   Ensembl: ENSG000001043317   OMIM: 6140105   UniProtKB: Q9NX623   

Export aliases for IMPAD1 gene to outside databases

Previous GC identifers: GC08M058039 GC08M053338


(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 IMPAD1 Gene:
This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi
apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP).
Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of
this gene is located on the long arm of chromosome 1. (provided by RefSeq, Dec 2011)

GeneCards Summary for IMPAD1 Gene:
IMPAD1 (inositol monophosphatase domain containing 1) is a protein-coding gene. Diseases associated with IMPAD1 include chondrodysplasia with joint dislocations, gpapp type, and chondrodysplasia with joint dislocations, grapp type. GO annotations related to this gene include inositol monophosphate 1-phosphatase activity and inositol monophosphate 4-phosphatase activity. An important paralog of this gene is BPNT1.

UniProtKB/Swiss-Prot: IMPA3_HUMAN, Q9NX62
Function: May play a role in the formation of skeletal elements derived through endochondral ossification,
possibly by clearing adenosine 3',5'-bisphosphate produced by Golgi sulfotransferases during glycosaminoglycan
sulfation (By similarity)




(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 at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_008183.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the IMPAD1 gene promoter:
         Pax-5   Nkx2-5   LCR-F1   Evi-1   E47   GATA-2   MZF-1   RORalpha1   Hand1   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIMPAD1 promoter sequence
   Search Chromatin IP Primers for IMPAD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IMPAD1


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

Entrez Gene cytogenetic band: 8q12.1   Ensembl cytogenetic band:  8q12.1   HGNC cytogenetic band: 8q12.1

IMPAD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IMPAD1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M057870:  view genomic region     (about GC identifiers)

Start:
57,870,488 bp from pter      End:
57,906,427 bp from pter
Size:
35,940 bases      Orientation:
minus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IMPA3_HUMAN, Q9NX62 (See protein sequence)
Recommended Name: Inositol monophosphatase 3  
Size: 359 amino acids; 38681 Da
Cofactor: Magnesium (By similarity)
Secondary accessions: Q6NVY7

Explore the universe of human proteins at neXtProt for IMPAD1: NX_Q9NX62

Explore proteomics data for IMPAD1 at MOPED

Post-translational modifications: 

  • Contains N-linked glycan resistant to endoglycosydase H1
  • Glycosylation2 at Thr98, Thr107, Ser108, Asn259
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for IMPAD1 (Q9NX62) (see all 10)
     AGGAGYK  SYNEKTP  GAGYKVL  YTAWAMVD 


    See IMPAD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060283.3  
    ENSEMBL proteins: 
     ENSP00000262644   ENSP00000428617   ENSP00000430185  

    IMPAD1 Human Recombinant Protein Products:

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    Novus Biologicals IMPAD1 Proteins
    Novus Biologicals IMPAD1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for IMPAD1
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for IMPAD1 

    IMPAD1 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for IMPAD1

    IMPAD1 Assay Products:

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    Search eBioscience for ELISAs for IMPAD1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR020550 Inositol_monophosphatase_CS
     IPR000760 Inositol_monophosphatase

    Graphical View of Domain Structure for InterPro Entry Q9NX62

    ProtoNet protein and cluster: Q9NX62

    UniProtKB/Swiss-Prot: IMPA3_HUMAN, Q9NX62
    Similarity: Belongs to the inositol monophosphatase family


    Find genes that share domains with IMPAD1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IMPA3_HUMAN, Q9NX62
    Function: May play a role in the formation of skeletal elements derived through endochondral ossification,
    possibly by clearing adenosine 3',5'-bisphosphate produced by Golgi sulfotransferases during glycosaminoglycan
    sulfation (By similarity)
    Catalytic activity: Myo-inositol phosphate + H(2)O = myo-inositol + phosphate
    Catalytic activity: Adenosine 3',5'-bisphosphate + H(2)O = adenosine 5'-phosphate + phosphate
    Enzyme regulation: Strongly inhibited by lithium (By similarity)

         Enzyme Numbers (IUBMB): EC 3.1.3.251 2 EC 3.1.32 EC 3.1.3.71

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00082543'-nucleotidase activity IEA--
    GO:00084413'(2'),5'-bisphosphate nucleotidase activity IEA--
    GO:0008934inositol monophosphate 1-phosphatase activity IEA--
    GO:0046872metal ion binding IEA--
    GO:0052832inositol monophosphate 3-phosphatase activity IEA--
         
    Find genes that share ontologies with IMPAD1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for IMPAD1:
     Decreased POU5F1-GFP protein e 

         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Impad1):
     craniofacial  digestive/alimentary  growth/size/body  limbs/digits/tail  mortality/aging 
     respiratory system  skeleton 

    Find genes that share phenotypes with IMPAD1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IMPAD1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IMPAD1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IMPAD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IMPAD1

    miRNA
    Products:
        
    miRTarBase miRNAs that target IMPAD1:
    hsa-mir-155-5p (MIRT020842), hsa-mir-16-5p (MIRT051237)

    Block miRNA regulation of human, mouse, rat IMPAD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IMPAD1 (see all 94):
    hsa-miR-549 hsa-miR-607 hsa-miR-3146 hsa-miR-578 hsa-miR-371-5p hsa-miR-3921 hsa-miR-1273d hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmidIMPAD1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for IMPAD1
    Predesigned siRNA for gene silencing in human, mouse, rat IMPAD1

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for IMPAD1
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    GenScript: all cDNA clones in your preferred vector: IMPAD1 (NM_017813)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IMPAD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IMPAD1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IMPAD1


    (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 UniProtKB/Swiss-Prot
    IMPA3_HUMAN, Q9NX62: Golgi apparatus, trans-Golgi network membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    endoplasmic reticulum2
    cytosol1
    extracellular1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IDA18695242
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with IMPAD1           About GenesLikeMe


    (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 IMPAD1 About    
    See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism (KEGG)
    Inositol phosphate metabolism0.61
    myo-inositol biosynthesis0.00
    Phosphatidylinositol signaling system0.61
    D-myo-inositol (1,4,5)-trisphosphate degradation0.00
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism0.00
    2Metabolism
    Metabolic pathways0.38
    3Sulfur metabolism
    Sulfur metabolism


    Find genes that share SuperPaths with IMPAD1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for IMPAD1
        D-myo-inositol (1,4,5)-trisphosphate degradation
    myo-inositol biosynthesis
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism


    4 Kegg Pathways  (Kegg details for IMPAD1):
        Inositol phosphate metabolism
    Sulfur metabolism
    Metabolic pathways
    Phosphatidylinositol signaling system

    UniProtKB/Swiss-Prot: IMPA3_HUMAN, Q9NX62
    Pathway: Polyol metabolism; myo-inositol biosynthesis; myo-inositol from D-glucose 6-phosphate: step 2/2

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for IMPAD1
    Interactions:

        Search GeneGlobe Interaction Network for IMPAD1

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

    Selected Interacting proteins for IMPAD1 (ENSP000002626444) via UniProtKB, MINT, STRING, and/or I2D (see all 33)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    INPP1ENSP000003254234STRING: ENSP00000325423
    ISYNA1ENSP000003151474STRING: ENSP00000315147
    METTL1ENSP000003144414STRING: ENSP00000314441
    THUMPD1ENSP000003707414STRING: ENSP00000370741
    DPAGT1ENSP000003461424STRING: ENSP00000346142
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development ----
    GO:0001958endochondral ossification IEA--
    GO:0002063chondrocyte development IEA--
    GO:0006021inositol biosynthetic process IEA--
    GO:0009791post-embryonic development IEA--

    Find genes that share ontologies with IMPAD1           About GenesLikeMe



    (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 IMPAD1 (IMPA3)

    2 HMDB Compounds for IMPAD1    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--
    MyoinositolMI (see all 11)87-89-8--



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for IMPAD1 gene: 
    NM_017813.4  

    Unigene Cluster for IMPAD1:

    Inositol monophosphatase domain containing 1
    Hs.438689  [show with all ESTs]
    Unigene Representative Sequence: NM_017813
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262644(uc003xte.4) ENST00000520392 ENST00000517461
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat IMPAD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IMPAD1 (see all 94):
    hsa-miR-549 hsa-miR-607 hsa-miR-3146 hsa-miR-578 hsa-miR-371-5p hsa-miR-3921 hsa-miR-1273d hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmidIMPAD1 3' UTR sequence
    Inhib. RNA
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: IMPAD1 (NM_017813)
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    Primer
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    OriGene qPCR primer pairs and template standards for IMPAD1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IMPAD1
      QuantiTect SYBR Green Assays in human, mouse, rat IMPAD1
      QuantiFast Probe-based Assays in human, mouse, rat IMPAD1

    Additional mRNA sequence: 

    AK000428.1 AK090988.1 AY032885.1 BC017797.1 BC067814.1 

    14 DOTS entries:

    DT.455344  DT.97812846  DT.95103452  DT.117011  DT.121487070  DT.100790943  DT.121487075  DT.121487065 
    DT.121487068  DT.121487058  DT.121487062  DT.95267214  DT.95308001  DT.100781470 

    Selected AceView cDNA sequences (see all 346):

    BX951990 N66470 AX746720 AL713617 BG740231 CB143115 CA407140 AA918740 
    CD171919 AA300703 AI690933 BU615351 AK090988 AI655617 BM724848 AI095394 
    AA903745 AW614833 AW611994 BU177317 AI992029 BG575136 CA395733 BE672821 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for IMPAD1    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b
    SP1:                                                
    SP2:                          -                     


    ECgene alternative splicing isoforms for IMPAD1

    (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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    IMPAD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTGCTTTTA
    IMPAD1 Expression
    About this image


    IMPAD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract
     
     Adipose (Muscoskeletal System)
             White adipocyte-like cells
     
     Bone (Muscoskeletal System)
             Rib
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    IMPAD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IMPAD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.438689
        Custom PCR Arrays for IMPAD1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for IMPAD1
    OriGene qSTAR qPCR primer pairs in human, mouse for IMPAD1
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    QuantiFast Probe-based Assays in human, mouse, rat IMPAD1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IMPAD1

    (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 IMPAD1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Impad11 , 5 inositol monophosphatase domain containing 11, 5 88.95(n)1
    91.01(a)1
      4 (2.56 cM)5
    2422911  NM_177730.31  NP_808398.11 
     47624845 
    chicken
    (Gallus gallus)
    Aves IMPAD11 inositol monophosphatase domain containing 1 78.46(n)
    81.46(a)
      421132  XM_419214.4  XP_419214.3 
    lizard
    (Anolis carolinensis)
    Reptilia IMPAD16
    inositol monophosphatase domain containing 1
    66(a)
    1 ↔ 1
    GL343332.1(1343535-1352048)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.33182 Xenopus laevis transcribed sequence with weak similarity more 74.7(n)    BJ612589.1 
    zebrafish
    (Danio rerio)
    Actinopterygii impad11 inositol monophosphatase domain containing 1 65.07(n)
    64.97(a)
      641570  NM_001037568.1  NP_001032657.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG157431 CG15743 50.36(n)
    47.5(a)
      32279  NM_001272582.1  NP_001259511.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y6B3B.51 CELE_Y6B3B.5 48.91(n)
    39.86(a)
      173241  NM_001026631.2  NP_001021802.1 


    ENSEMBL Gene Tree for IMPAD1 (if available)
    TreeFam Gene Tree for IMPAD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IMPAD1 gene
    BPNT12  
    1 SIMAP similar gene for IMPAD1 using alignment to 3 protein entries:     IMPA3_HUMAN (see all proteins):
    BPNT1

    Find genes that share paralogs with IMPAD1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for IMPAD1
    PGOHUM00000244409


    (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 IMPAD1 (see all 711)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
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    ----------
    VAR_0658474
    Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP)4--see VAR_0658472 D N mis40--------
    VAR_0658484
    Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP)4--see VAR_0658482 T P mis40--------
    rs752061091,2
    F--57880958(+) AAAAAA/CAAAAC 1 -- int11Minor allele frequency- C:0.02EA 120
    rs712585501,2
    C--57883829(+) AGCTT-/AAAAAAA 1 -- int11Minor allele frequency- AA:0.00NA 2
    rs712585511,2
    C--57884342(+) CCCCCC/-ACAAT 1 -- int11Minor allele frequency- -:0.00NA 2
    rs599546771,2
    C--57901769(+) CTAAA-/AATACAA 1 -- int10--------
    rs1868429291,2
    --57967399(+) GACCAA/GAACTG 1 -- ds50010--------
    rs169214301,2
    C,F,H--57967599(+) GAAGAG/ATTACC 1 -- ds50018Minor allele frequency- A:0.02NA NS EA WA 680
    rs606128931,2
    C,F--57967650(+) GTTGGC/AGAGGA 1 -- ds50012Minor allele frequency- A:0.06WA 120
    rs1481640781,2
    --57967651(+) TTGGCA/GAGGAT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for IMPAD1 (57870488 - 57906427 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for IMPAD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv890932CNV Gain21882294

    Human Gene Mutation Database (HGMD): IMPAD1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IMPAD1
    DNA2.0 Custom Variant and Variant Library Synthesis for IMPAD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 614010   
    OMIM disorders: 614078  
    UniProtKB/Swiss-Prot: IMPA3_HUMAN, Q9NX62
  • Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP) [MIM:614078]: A condition consisting of
    congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a
    distinctive face. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for IMPAD1:    
    About MalaCards
    chondrodysplasia with joint dislocations, gpapp type    chondrodysplasia with joint dislocations, grapp type    catel manzke syndrome    chondrodysplasia

    2 diseases from the University of Copenhagen DISEASES database for IMPAD1:
    Brachydactyly     Cleft palate

    Find genes that share disorders with IMPAD1           About GenesLikeMe

    Genetic Association Database (GAD): IMPAD1

    Export disorders for IMPAD1 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 IMPAD1 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with IMPAD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. (PubMed id 21549340)1, 2, 3 Vissers L.E....Superti-Furga A. (Am. J. Hum. Genet. 2011)
    2. A role for a lithium-inhibited Golgi nucleotidase in skeletal development and sulfation. (PubMed id 18695242)1, 2 Frederick J.P.... York J.D. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    5. IMPAD1 mutations in two Catel-Manzke like patients. (PubMed id 22887726)1 Nizon M....Cormier-Daire V. (Am. J. Med. Genet. A 2012)
    6. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
    About This Section

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    Entrez Gene: 54928 HGNC: 26019 AceView: FLJ20421 Ensembl:ENSG00000104331 euGenes: HUgn54928
    ECgene: IMPAD1 Kegg: 54928 H-InvDB: IMPAD1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for IMPAD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for IMPAD1 gene:
    Search GeneIP for patents involving IMPAD1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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