Human Gene IDI1 (uc001iga.3)
  Description: Homo sapiens isopentenyl-diphosphate delta isomerase 1 (IDI1), mRNA.
RefSeq Summary (NM_004508): 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].
Transcript (Including UTRs)
   Position: hg19 chr10:1,085,964-1,095,061 Size: 9,098 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr10:1,087,127-1,094,943 Size: 7,817 Coding Exon Count: 5 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:1,085,964-1,095,061)mRNA (may differ from genome)Protein (284 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIOMIMPubMedReactomeTreefamUniProtKB
BioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): IDI1
CDC HuGE Published Literature: IDI1

-  MalaCards Disease Associations
  MalaCards Gene Search: IDI1
Diseases sorted by gene-association score: neonatal adrenoleukodystrophy (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 44.96 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 931.41 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -48.70118-0.413 Picture PostScript Text
3' UTR -289.811163-0.249 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00293 - NUDIX domain

SCOP Domains:
55811 - Nudix

ModBase Predicted Comparative 3D Structure on Q13907-2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Descriptions from all associated GenBank mRNAs
  BC006999 - Homo sapiens isopentenyl-diphosphate delta isomerase 1, mRNA (cDNA clone IMAGE:3683381), partial cds.
LP895206 - Sequence 70 from Patent EP3253886.
BX537663 - Homo sapiens mRNA; cDNA DKFZp779D065 (from clone DKFZp779D065).
FW340040 - Screening.
BC005247 - Homo sapiens isopentenyl-diphosphate delta isomerase 1, mRNA (cDNA clone IMAGE:3997517), partial cds.
BC025375 - Homo sapiens isopentenyl-diphosphate delta isomerase 1, mRNA (cDNA clone IMAGE:4097088), partial cds.
BC107893 - Homo sapiens isopentenyl-diphosphate delta isomerase 1, mRNA (cDNA clone IMAGE:6718063), partial cds.
BC057827 - Homo sapiens isopentenyl-diphosphate delta isomerase 1, mRNA (cDNA clone MGC:71798 IMAGE:30337530), complete cds.
BC022418 - Homo sapiens isopentenyl-diphosphate delta isomerase 1, mRNA (cDNA clone IMAGE:4243851), partial cds.
BX648472 - Homo sapiens mRNA; cDNA DKFZp686K17155 (from clone DKFZp686K17155).
AF271720 - Homo sapiens isopentenyl diphosphate dimethylallyl diphosphate isomerase 1 (IDI1) mRNA, complete cds.
X17025 - Human homolog of yeast IPP isomerase.
AK311110 - Homo sapiens cDNA, FLJ18152.
JD551240 - Sequence 532264 from Patent EP1572962.
BC019227 - Homo sapiens isopentenyl-diphosphate delta isomerase 1, mRNA (cDNA clone IMAGE:3682248), partial cds.
JD244462 - Sequence 225486 from Patent EP1572962.
JD433728 - Sequence 414752 from Patent EP1572962.
JD065539 - Sequence 46563 from Patent EP1572962.
JD327014 - Sequence 308038 from Patent EP1572962.
AK303669 - Homo sapiens cDNA FLJ56330 complete cds, highly similar to Homo sapiens isopentenyl-diphosphate delta isomerase 1 (IDI1), mRNA.
LF330790 - JP 2014500723-A/138293: Polycomb-Associated Non-Coding RNAs.
AK222875 - Homo sapiens mRNA for isopentenyl-diphosphate delta isomerase variant, clone: HEP13641.
JD182336 - Sequence 163360 from Patent EP1572962.
KJ901503 - Synthetic construct Homo sapiens clone ccsbBroadEn_10897 IDI1 gene, encodes complete protein.
KJ901504 - Synthetic construct Homo sapiens clone ccsbBroadEn_10898 IDI1 gene, encodes complete protein.
BT006761 - Homo sapiens isopentenyl-diphosphate delta isomerase mRNA, complete cds.
KJ905790 - Synthetic construct Homo sapiens clone ccsbBroadEn_15460 IDI1 gene, encodes complete protein.
LF330789 - JP 2014500723-A/138292: Polycomb-Associated Non-Coding RNAs.
LF330788 - JP 2014500723-A/138291: Polycomb-Associated Non-Coding RNAs.
LF330787 - JP 2014500723-A/138290: Polycomb-Associated Non-Coding RNAs.
MA566367 - JP 2018138019-A/138293: Polycomb-Associated Non-Coding RNAs.
MA566366 - JP 2018138019-A/138292: Polycomb-Associated Non-Coding RNAs.
MA566365 - JP 2018138019-A/138291: Polycomb-Associated Non-Coding RNAs.
MA566364 - JP 2018138019-A/138290: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00900 - Terpenoid backbone biosynthesis
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-5123 - trans, trans-farnesyl diphosphate biosynthesis
PWY-922 - mevalonate pathway I
PWY66-5 - superpathway of cholesterol biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q13907 (Reactome details) participates in the following event(s):

R-HSA-191382 Isopentenyl pyrophosphate rearranges to dimethylallyl pyrophosphate
R-HSA-2426168 Activation of gene expression by SREBF (SREBP)
R-HSA-1655829 Regulation of cholesterol biosynthesis by SREBP (SREBF)
R-HSA-8957322 Metabolism of steroids
R-HSA-191273 Cholesterol biosynthesis
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: NM_004508, NP_004499, Q13907-2
UCSC ID: uc001iga.3
RefSeq Accession: NM_004508
Protein: Q13907-2, splice isoform of Q13907 CCDS: CCDS7056.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004508.2
exon count: 5CDS single in 3' UTR: no RNA size: 2150
ORF size: 855CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1898.00frame shift in genome: no % Coverage: 99.35
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.