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

IDI1 Gene

protein-coding   GIFtS: 63
GCID: GC10M001075

Isopentenyl-Diphosphate Delta Isomerase 1

(Previous name: isopentenyl-diphosphate delta isomerase)
  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
Isopentenyl-Diphosphate Delta Isomerase 11 2     IPP Isomerase1
Isopentenyl Pyrophosphate Isomerase 12 3     Isopentenyl-Diphosphate Delta Isomerase1
IPPI12 3     IPP12
IPP Isomerase 12 3     Isopentenyl Diphosphate Dimethylallyl Diphosphate Isomerase 12
EC 5.3.3.23 8     Isopentenyl-Diphosphate Delta-Isomerase 12

External Ids:    HGNC: 53871   Entrez Gene: 34222   Ensembl: ENSG000000670647   OMIM: 6040555   UniProtKB: Q139073   

Export aliases for IDI1 gene to outside databases

Previous GC identifers: GC10M001056 GC10M001039


(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 IDI1 Gene:
IDI1 encodes a peroxisomally-localized enzyme that catalyzes the interconversion of isopentenyl diphosphate (IPP)
to its highly electrophilic isomer, dimethylallyl diphosphate (DMAPP), which are the substrates for the
successive reaction that results in the synthesis of farnesyl diphosphate and, ultimately, cholesterol. It has
been shown in peroxisomal deficiency diseases such as Zellweger syndrome and neonatal adrenoleukodystrophy that
there is reduction in IPP isomerase activity. (provided by RefSeq, Jul 2008)

GeneCards Summary for IDI1 Gene: 
IDI1 (isopentenyl-diphosphate delta isomerase 1) is a protein-coding gene. Diseases associated with IDI1 include neonatal adrenoleukodystrophy, and zellweger syndrome, and among its related super-pathways are Cholesterol biosynthesis and superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate). GO annotations related to this gene include manganese ion binding and magnesium ion binding. An important paralog of this gene is IDI2.

UniProtKB/Swiss-Prot: IDI1_HUMAN, Q13907
Function: Catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (IPP) to its highly
electrophilic allylic isomer, dimethylallyl diphosphate (DMAPP)




(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_008705.16  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IDI1 gene promoter:
         Elk-1   LHX3b/Lhx3b   CUTL1   NF-kappaB   NF-kappaB2   LHX3a/Lhx3a   aMEF-2   NF-kappaB1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): IDI1 promoter sequence
   Search SABiosciences Chromatin IP Primers for IDI1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IDI1


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

Entrez Gene cytogenetic band: 10p15.3   Ensembl cytogenetic band:  10p15.3   HGNC cytogenetic band: 10p15.3

IDI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IDI1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M001075:  view genomic region     (about GC identifiers)

Start:
1,085,848 bp from pter      End:
1,095,110 bp from pter
Size:
9,263 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: IDI1_HUMAN, Q13907 (See protein sequence)
Recommended Name: Isopentenyl-diphosphate Delta-isomerase 1  
Size: 227 amino acids; 26319 Da
Cofactor: Binds 1 magnesium ion per subunit
Subunit: Monomer
Subcellular location: Peroxisome
Sequence caution: Sequence=AAH57827.1; Type=Erroneous initiation; Sequence=AAK29357.1; Type=Erroneous initiation;
Sequence=AAK49434.1; Type=Erroneous initiation; Sequence=AAK49435.1; Type=Erroneous initiation;
Sequence=AAP35407.1; Type=Erroneous initiation; Sequence=CAA34890.1; Type=Erroneous initiation;
4 PDB 3D structures from and Proteopedia for IDI1:
2DHO (3D)        2I6K (3D)        2ICJ (3D)        2ICK (3D)    
Secondary accessions: B4E155 Q32Q13 Q53GQ6 Q86U81 Q8WUX8 Q96IZ4 Q9BQ74
Alternative splicing: 2 isoforms:  Q13907-1   Q13907-2   (Ref.8 (AAI07894) sequence is in conflict in position: 39:V->G)

Explore the universe of human proteins at neXtProt for IDI1: NX_Q13907

Explore proteomics data for IDI1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13907

  • 4/6 DME Specific Peptides for IDI1 (Q13907) (see all 6)
     LLLQQRS  NTCCSHP  FLFKWWD  IGAETKKNCHLNENIE 

    IDI1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IDI1 Protein Expression
    REFSEQ proteins: NP_004499.2  
    ENSEMBL proteins: 
     ENSP00000370748   ENSP00000404771   ENSP00000401879  
    Reactome Protein details: Q13907
    Human Recombinant Protein Products for IDI1: 
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    ProSpec Recombinant Protein for IDI1
    Cloud-Clone Corp. Proteins for IDI1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005777peroxisome IDA17180682
    GO:0005829cytosol TAS--

    IDI1 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: isopentenyl-diphosphate Δ-isomerase 1 
    Lanosterol biosynthesis pathway

    3 InterPro protein domains:
     IPR015797 NUDIX_hydrolase_dom-like
     IPR011876 IsopentenylPP_isomerase_typ1
     IPR000086 NUDIX_hydrolase_dom

    Graphical View of Domain Structure for InterPro Entry Q13907

    ProtoNet protein and cluster: Q13907

    2 Blocks protein domains:
    IPB000086 NUDIX hydrolase
    IPB002667 Isopentenyl-diphosphate delta-isomerase


    UniProtKB/Swiss-Prot: IDI1_HUMAN, Q13907
    Similarity: Belongs to the IPP isomerase type 1 family
    Similarity: Contains 1 nudix hydrolase domain


    IDI1 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: IDI1_HUMAN, Q13907
    Function: Catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (IPP) to its highly
    electrophilic allylic isomer, dimethylallyl diphosphate (DMAPP)
    Catalytic activity: Isopentenyl diphosphate = dimethylallyl diphosphate

         Enzyme Number (IUBMB): EC 5.3.3.21 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA17250851
    GO:0004452isopentenyl-diphosphate delta-isomerase activity IEA--
    GO:0016787hydrolase activity IEA--
    GO:0030145manganese ion binding IDA17250851
    GO:0046872metal ion binding IEA--
         
    IDI1 for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidIDI1 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 IDI1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1cholesterol biosynthesis III (via desmosterol)
    Cholesterol biosynthesis0.85
    Cholesterol biosynthesis0.62
    superpathway of cholesterol biosynthesis0.85
    2superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)
    superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)0.85
    Terpenoid backbone biosynthesis0.55
    mevalonate pathway I0.85
    trans, trans-farnesyl diphosphate biosynthesis0.31
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.67
    SREBP signalling0.37
    Activation of Gene Expression by SREBP (SREBF)0.67
    4Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    5Diurnally regulated genes with circadian orthologs
    Diurnally regulated genes with circadian orthologs

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/7 BioSystems Pathways for IDI1 (see all 7)
        Cholesterol biosynthesis
    Diurnally regulated genes with circadian orthologs
    SREBP signalling
    superpathway of cholesterol biosynthesis
    trans, trans-farnesyl diphosphate biosynthesis

    5        Reactome Pathways for IDI1
        Metabolism
    Cholesterol biosynthesis
    Activation of Gene Expression by SREBP (SREBF)
    Metabolism of lipids and lipoproteins
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)


    2         Kegg Pathways  (Kegg details for IDI1):
        Terpenoid backbone biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: IDI1_HUMAN, Q13907
    Pathway: Isoprenoid biosynthesis; dimethylallyl diphosphate biosynthesis; dimethylallyl diphosphate from
    isopentenyl diphosphate: step 1/1


    IDI1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IDI1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/53 Interacting proteins for IDI1 (Q139073 ENSP000003707484) via UniProtKB, MINT, STRING, and/or I2D (see all 53)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    HSPA8P111423I2D: score=4 
    RFT1Q96AA33I2D: score=4 
    USO1O607633I2D: score=4 
    NEDD4LQ96PU53I2D: score=3 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006695cholesterol biosynthetic process TAS--
    GO:0008299isoprenoid biosynthetic process IEA--
    GO:0035634response to stilbenoid IEA--
    GO:0044281small molecule metabolic process TAS--
    GO:0050992dimethylallyl diphosphate biosynthetic process IEA--

    IDI1 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

    IDI1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for IDI1

    3 HMDB Compounds for IDI1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dimethylallylpyrophosphate1,1-Dimethyl-4-phenylpiperazinium iodide (see all 24)358-72-5--
    Isopentenyl pyrophosphate3-Methyl-3-butenyl pyrophosphate (see all 13)358-71-4--
    MagnesiumMagnesium (see all 2)7439-95-4--

    1 DrugBank Compound for IDI1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Dimethylallyl Diphosphate-- 358-72-5target--10592235

    1 IUPHAR Ligand for IDI1 (isopentenyl-diphosphate Δ-isomerase 1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    NE21650
    InhibitorInhibition4.211785983

    4 Novoseek inferred chemical compound relationships for IDI1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dimethylallyl diphosphate 92.5 1 15381396 (1)
    isopentenyl diphosphate 92.2 15 8806705 (2), 15381396 (2), 17250851 (2), 7908830 (1) (see all 8)
    mevalonate 70.2 4 15206931 (1), 15381396 (1), 8739963 (1)
    cholesterol 21.7 7 16020911 (1), 17478552 (1), 8739963 (1)

    Search CenterWatch for drugs/clinical trials and news about IDI1

    (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 IDI1 gene: 
    NM_004508.2  

    Unigene Cluster for IDI1:

    Isopentenyl-diphosphate delta isomerase 1
    Hs.283652  [show with all ESTs]
    Unigene Representative Sequence: BX537663
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381344(uc001ifz.3 uc001iga.3 uc001igb.3 uc001igc.3)
    ENST00000491735 ENST00000427898 ENST00000429642 ENST00000482091
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    Additional mRNA sequence: 

    AF271720.1 AK222875.1 AK303669.1 AK311110.1 BC005247.2 BC006999.2 BC019227.2 BC022418.2 
    BC025375.2 BC057827.1 BC107893.1 BT006761.1 BX537663.1 BX648472.1 X17025.1 

    24/36 DOTS entries (see all 36):

    DT.92462703  DT.99994257  DT.453773  DT.91911776  DT.100723192  DT.408305  DT.97838100  DT.100883548 
    DT.100883542  DT.95363710  DT.92462695  DT.100746628  DT.100000543  DT.100883547  DT.121257168  DT.100883544 
    DT.100883550  DT.419678  DT.75101189  DT.121257216  DT.121257271  DT.95363709  DT.97860180  DT.101980739 

    24/719 AceView cDNA sequences (see all 719):

    AV703242 CR614669 AI189615 BQ776340 CR602134 AI382487 AI305202 BU730055 
    AV709829 AA459669 AA973694 AL518488 CA449647 AI380146 CA416874 BM854259 
    AW298086 CA421328 BQ021407 AL538403 BM709770 AL533575 BM851587 CR625468 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for IDI1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b
    SP1:                    -                                             
    SP2:                    -     -     -                                 
    SP3:                          -     -                                 
    SP4:                                                                  


    ECgene alternative splicing isoforms for IDI1

    (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

    IDI1 expression in normal human tissues (normalized intensities)      IDI1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGACACCCAC
    IDI1 Expression
    About this image


    IDI1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/15 selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Thalamus
             brain/midbrain   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Eye (Sensory Organs)
             Retina
     
     Adrenal Gland (Endocrine System)
             Adrenal Cortex   

    See IDI1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IDI1

    SOURCE GeneReport for Unigene cluster: Hs.283652
        SABiosciences Expression via Pathway-Focused PCR Array including IDI1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

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    In Situ
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    (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 eukaryotes.

    Orthologs for IDI1 gene from 10/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Idi11 , 5 isopentenyl-diphosphate delta isomerase1, 5 80.45(n)1
    79.51(a)1
      13 (3.62 cM)5
    3195541  NM_145360.21  NP_663335.21 
     88855015 
    chicken
    (Gallus gallus)
    Aves IDI11 isopentenyl-diphosphate delta isomerase 1 76.95(n)
    82.82(a)
      420459  XM_418561.3  XP_418561.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    80(a)
    1 → many
    6(8112544-8117708)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.120042 Transcribed sequence with moderate similarity to protein more 74(n)    CF524263.1 
    zebrafish
    (Danio rerio)
    Actinopterygii idi11 isopentenyl-diphosphate delta isomerase 1 69.46(n)
    75.33(a)
      553513  NM_001025475.1  NP_001020646.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG59191 , 3 isopentenyl-diphosphate
    delta-isomerase3
    CG59191
    49(a)3
    51.56(n)1
    50.93(a)1
      93D23
    425261  NM_142705.21  NP_650962.11 
    worm
    (Caenorhabditis elegans)
    Secernentea K06H7.93   -- 38(a)   III(8163455-8164664)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IDI1(YPL117C)4
    IDI11
    Isopentenyl diphosphate:dimethylallyl diphosphate isomerase more4
    Idi1p1
    55.97(n)1
    53.02(a)1
      16(328730-327864)4
    8559861, 4  NP_015208.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons IPP21 Isopentenyl-diphosphate Delta-isomerase II 58.45(n)
    54.79(a)
      820960  NM_111146.3  NP_186927.1 
    rice
    (Oryza sativa)
    Liliopsida Os.188772 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.54(n)    AK060336.1 


    ENSEMBL Gene Tree for IDI1 (if available)
    TreeFam Gene Tree for IDI1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IDI1 gene
    IDI22  
    1 SIMAP similar gene for IDI1 using alignment to 3 protein entries:     IDI1_HUMAN (see all proteins):
    IDI2

    IDI1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for IDI1
    PGOHUM00000247433 PGOHUM00000240964 PGOHUM00000249333


    (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

    10/167 SNPs in IDI1 are shown (see all 167)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1394464631,2
    --1090663(+) TTTCTC/GAACCC 1 -- int10--------
    rs676964501,2
    C,F--1090684(+) GTTATC/TAGAAA 1 -- int14Minor allele frequency- T:0.22NA 126
    rs766877891,2
    C--1090724(+) CCCAGA/GACAGT 1 -- int10--------
    rs1831695601,2
    --1090780(+) TTATAC/TTCAAT 1 -- int10--------
    rs1454910531,2
    --1090790(+) TAGATA/GCTTTA 1 -- int10--------
    rs1484267281,2
    --1090877(+) AGGCAA/GTAGGT 1 -- int10--------
    rs122579491,2
    H--1090906(+) actgaG/Ctgtgg 1 -- int14Minor allele frequency- C:0.00NS EA 420
    rs1451789941,2
    --1090967(+) ACAAAA/GTATTT 1 -- int10--------
    rs1476089941,2
    --1090986(+) CTCCAA/TCCGTT 1 -- int10--------
    rs70725541,2
    C,F,H--1090988(+) CCATCC/TGTTTA 1 -- int119Minor allele frequency- T:0.16NS EA NA WA 2344

    HapMap Linkage Disequilibrium report for IDI1 (1085848 - 1095110 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for IDI1 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2729395CNV Deletion23290073
    esv2660097CNV Deletion23128226
    esv2156728CNV Deletion18987734
    esv990965CNV Deletion20482838
    esv2729384CNV Deletion23290073
    esv2729373CNV Deletion23290073
    esv2483699CNV Deletion19546169
    nsv512136CNV Loss21212237
    nsv5532CNV Loss18451855
    dgv589n71CNV Loss21882294

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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: 604055    OMIM disorders: --

    9 diseases for IDI1:    About MalaCards
    neonatal adrenoleukodystrophy    zellweger syndrome    adrenoleukodystrophy    pyloric stenosis
    amyotrophic lateral sclerosis    lateral sclerosis    tuberculosis    breast cancer
    leukemia


    IDI1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): IDI1
    Human Genome Epidemiology (HuGE) Navigator: IDI1 (3 documents)

    Export disorders for IDI1 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 IDI1 gene, integrated from 9 sources (see all 41):
    (articles sorted by number of sources associating them with IDI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human promyelocyte mRNA transiently induced by TPA is homologous to yeast IPP isomerase. (PubMed id 8020941)1, 2, 3 Xuan J.W.... Denhardt D.T. (1994)
    2. The crystal structure of human isopentenyl diphosphate isomerase at 1.7 A resolution reveals its catalytic mechanism in isoprenoid biosynthesis. (PubMed id 17250851)1, 2, 9 Zheng W.... Rao Z. (2007)
    3. Human isopentenyl diphosphate: dimethylallyl diphosphate isomerase: overproduction, purification, and characterization. (PubMed id 8806705)1, 2, 9 Hahn F.M.... Poulter C.D. (1996)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    5. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)
    6. 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)
    7. Copper induces the expression of cholesterogenic genes in human macrophages. (PubMed id 12860252)1, 9 Svensson P.A....Carlsson B. (2003)
    8. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    9. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 3422 HGNC: 5387 AceView: IDI1 Ensembl:ENSG00000067064 euGenes: HUgn3422
    ECgene: IDI1 Kegg: 3422 H-InvDB: IDI1

    (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 IDI1 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 IDI1 gene:
    Search GeneIP for patents involving IDI1

    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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