Human Gene IDI1 (ENST00000381344.8) from GENCODE V44
  Description: Homo sapiens isopentenyl-diphosphate delta isomerase 1 (IDI1), transcript variant 1, mRNA. (from RefSeq NM_004508)
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].
Gencode Transcript: ENST00000381344.8
Gencode Gene: ENSG00000067064.13
Transcript (Including UTRs)
   Position: hg38 chr10:1,039,419-1,049,119 Size: 9,701 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr10:1,041,187-1,049,003 Size: 7,817 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:1,039,419-1,049,119)mRNA (may differ from genome)Protein (284 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IDI1_HUMAN
DESCRIPTION: RecName: Full=Isopentenyl-diphosphate Delta-isomerase 1; EC=5.3.3.2; AltName: Full=Isopentenyl pyrophosphate isomerase 1; Short=IPP isomerase 1; Short=IPPI1;
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.
COFACTOR: Binds 1 magnesium ion per subunit.
PATHWAY: Isoprenoid biosynthesis; dimethylallyl diphosphate biosynthesis; dimethylallyl diphosphate from isopentenyl diphosphate: step 1/1.
SUBUNIT: Monomer.
SUBCELLULAR LOCATION: Peroxisome.
SIMILARITY: Belongs to the IPP isomerase type 1 family.
SIMILARITY: Contains 1 nudix hydrolase domain.
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;

-  Primer design for this transcript
 

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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


-  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

-  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
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -45.90116-0.396 Picture PostScript Text
3' UTR -410.701768-0.232 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
  InterPro Domains: Graphical view of domain structure
IPR011876 - IsopentenylPP_isomerase_typ1
IPR000086 - NUDIX_hydrolase_dom
IPR015797 - NUDIX_hydrolase_dom-like

Pfam Domains:
PF00293 - NUDIX domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DHO - X-ray MuPIT 2I6K - X-ray MuPIT 2ICJ - X-ray MuPIT 2ICK - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13907
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-  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
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGIRGDEnsembl  SGD
Protein SequenceProtein SequenceProtein Sequence  Protein Sequence
AlignmentAlignmentAlignment  Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000287 magnesium ion binding
GO:0004452 isopentenyl-diphosphate delta-isomerase activity
GO:0016787 hydrolase activity
GO:0016853 isomerase activity
GO:0030145 manganese ion binding
GO:0046872 metal ion binding

Biological Process:
GO:0006629 lipid metabolic process
GO:0006694 steroid biosynthetic process
GO:0006695 cholesterol biosynthetic process
GO:0008202 steroid metabolic process
GO:0008203 cholesterol metabolic process
GO:0008299 isoprenoid biosynthetic process
GO:0009240 isopentenyl diphosphate biosynthetic process
GO:0016126 sterol biosynthetic process
GO:0045540 regulation of cholesterol biosynthetic process
GO:0050992 dimethylallyl diphosphate biosynthetic process

Cellular Component:
GO:0005777 peroxisome
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  LP895206 - Sequence 70 from Patent EP3253886.
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.
X17025 - Human homolog of yeast IPP isomerase.
AK311110 - Homo sapiens cDNA, FLJ18152.
AK303669 - Homo sapiens cDNA FLJ56330 complete cds, highly similar to Homo sapiens isopentenyl-diphosphate delta isomerase 1 (IDI1), mRNA.
AK222875 - Homo sapiens mRNA for isopentenyl-diphosphate delta isomerase variant, clone: HEP13641.
BC006999 - Homo sapiens isopentenyl-diphosphate delta isomerase 1, mRNA (cDNA clone IMAGE:3683381), partial cds.
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.
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.
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.
LF330790 - JP 2014500723-A/138293: Polycomb-Associated Non-Coding RNAs.
MA566367 - JP 2018138019-A/138293: Polycomb-Associated Non-Coding RNAs.
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.
MA566366 - JP 2018138019-A/138292: Polycomb-Associated Non-Coding RNAs.
LF330788 - JP 2014500723-A/138291: Polycomb-Associated Non-Coding RNAs.
MA566365 - JP 2018138019-A/138291: Polycomb-Associated Non-Coding RNAs.
LF330787 - JP 2014500723-A/138290: Polycomb-Associated Non-Coding RNAs.
MA566364 - JP 2018138019-A/138290: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5123 - trans, trans-farnesyl diphosphate biosynthesis
PWY-5910 - superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)
PWY-922 - mevalonate pathway
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: B4E155, ENST00000381344.1, ENST00000381344.2, ENST00000381344.3, ENST00000381344.4, ENST00000381344.5, ENST00000381344.6, ENST00000381344.7, IDI1_HUMAN, NM_004508, Q13907, Q32Q13, Q53GQ6, Q86U81, Q8WUX8, Q96IZ4, Q9BQ74, uc001iga.1, uc001iga.2, uc001iga.3, uc001iga.4, uc001iga.5
UCSC ID: ENST00000381344.8
RefSeq Accession: NM_004508
Protein: Q13907 (aka IDI1_HUMAN)

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