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

IMPAD1 Gene

protein-coding   GIFtS: 56
GCID: GC08M057870

Inositol Monophosphatase Domain Containing 1

  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 Monophosphatase Domain Containing 11 2     IMPase 32 3
Golgi-Resident PAP Phosphatase2 3     EC 3.1.3.253 8
Inositol Monophosphatase Domain-Containing Protein 12 3     GPAPP2
Inositol-1(Or 4)-Monophosphatase 32 3     IMP-32
Myo-Inositol Monophosphatase A32 3     Inositol Monophosphatase 32
IMPA32 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, 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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_008183.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for IMPAD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: IMPA3_HUMAN, Q9NX62 (See protein sequence)
Recommended Name: Inositol monophosphatase 3  
Size: 359 amino acids; 38681 Da
Cofactor: Magnesium (By similarity)
Subcellular location: Golgi apparatus, trans-Golgi network membrane; Single-pass type II membrane protein
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:

  • UniProtKB: Contains N-linked glycan resistant to endoglycosydase H
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NX62

  • 4/10 DME Specific Peptides for IMPAD1 (Q9NX62) (see all 10)
     AGGAGYK  SYNEKTP  GAGYKVL  YTAWAMVD 

    IMPAD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IMPAD1 Protein Expression
    REFSEQ proteins: NP_060283.3  
    ENSEMBL proteins: 
     ENSP00000262644   ENSP00000428617   ENSP00000430185  

    Human Recombinant Protein Products for IMPAD1: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for IMPAD1
    Browse Proteins at Cloud-Clone Corp. 

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

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

    IMPAD1 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
    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


    IMPAD1 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: 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): 5/6 molecular function terms (GO ID links to tree view) (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--
         
    IMPAD1 for ontologies           About GeneDecksing


    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  limbs/digits/tail  mortality/aging 
     respiratory system  skeleton 

    IMPAD1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for IMPAD1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IMPAD1
    8/94 QIAGEN miScript miRNA 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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IMPAD1


    (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 IMPAD1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism0.75
    D-myo-inositol (1,4,5)-trisphosphate degradation0.65
    2Inositol phosphate metabolism
    Inositol phosphate metabolism0.61
    Phosphatidylinositol signaling system0.61
    3Metabolism
    Metabolic pathways0.40
    4myo-inositol biosynthesis
    myo-inositol biosynthesis
    5Sulfur metabolism
    Sulfur metabolism

    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


    IMPAD1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IMPAD1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for IMPAD1 (ENSP000002626444) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    INPP1ENSP000003254234STRING: ENSP00000325423
    ISYNA1ENSP000003151474STRING: ENSP00000315147
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (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--

    IMPAD1 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
    Browse Small Molecules at EMD Millipore
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    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--

    Search CenterWatch for drugs/clinical trials and news about IMPAD1 / IMPA3

    (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 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
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    8/94 QIAGEN miScript miRNA 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
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IMPAD1
      QIAGEN 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 

    24/346 AceView cDNA sequences (see all 346):

    BG740231 AK090988 AI269015 BG575136 BU615351 AI650662 BE328534 AW150712 
    BF593176 AI992029 CA446969 BE672821 AX746720 BI963729 AL713617 AW275338 
    AI492403 AA300703 AA314494 AI095394 AA903745 AW611994 BU683187 BM676970 

    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™, 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

    IMPAD1 expression in normal human tissues (normalized intensities)      IMPAD1 embryonic expression: see
    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 
     5/6 selected tissues (see all 6) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract
     
     Bone (Muscoskeletal System)
             Thoracic Rib
     
     Uterus (Reproductive System)
             endometrial endothelial cell   
     
     Chorion (Extraembryonic Tissues)
             chorion villus cells   
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow

    See IMPAD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IMPAD1

    SOURCE GeneReport for Unigene cluster: Hs.438689
        SABiosciences Custom PCR Arrays for IMPAD1
    Primer
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for IMPAD1 gene from 7/16 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 89.51(n)1
    91.85(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 78.56(n)
    81.46(a)
      421132  XM_419214.3  XP_419214.3 
    lizard
    (Anolis carolinensis)
    Reptilia IMPAD16
    Uncharacterized protein
    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 64.97(n)
    64.97(a)
      641570  NM_001037568.1  NP_001032657.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG157431 CG15743 49.63(n)
    43.26(a)
      32279  NM_132641.1  NP_572869.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y6B3B.51 Protein Y6B3B.5 49.51(n)
    40.37(a)
      173241  NM_001026630.1  NP_001021801.1 


    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)
    About This Section
    Paralogs for IMPAD1 gene
    BPNT12  
    1 SIMAP similar gene for IMPAD1 using alignment to 3 protein entries:     IMPA3_HUMAN (see all proteins):
    BPNT1

    IMPAD1 for paralogs           About GeneDecksing


    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) 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

    10/711 SNPs in IMPAD1 are shown (see all 711)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614010    OMIM disorders: --

    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

  • 7 diseases for IMPAD1:    About MalaCards
    chondrodysplasia with joint dislocations, gpapp type    chondrodysplasia with joint dislocations, grapp type    catel manzke syndrome    chondrodysplasia
    brachydactyly    cleft palate    short stature

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

    IMPAD1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for IMPAD1 gene, integrated from 9 sources (see all 15):
    (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. (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. (2008)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    5. IMPAD1 mutations in two Catel-Manzke like patients. (PubMed id 22887726)1 Nizon M....Cormier-Daire V. (2012)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    10. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    OMIM
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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: 54928 HGNC: 26019 AceView: FLJ20421 Ensembl:ENSG00000104331 euGenes: HUgn54928
    ECgene: IMPAD1 Kegg: 54928 H-InvDB: IMPAD1

    (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 IMPAD1 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 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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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