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IDI1 isopentenyl-diphosphate delta isomerase 1 [ Homo sapiens (human) ]

Gene ID: 3422, updated on 28-Jun-2020

Summary

Official Symbol
IDI1provided by HGNC
Official Full Name
isopentenyl-diphosphate delta isomerase 1provided by HGNC
Primary source
HGNC:HGNC:5387
See related
Ensembl:ENSG00000067064 MIM:604055
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IPP1; IPPI1
Summary
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]
Expression
Ubiquitous expression in bone marrow (RPKM 23.9), brain (RPKM 23.0) and 25 other tissues See more
Orthologs

Genomic context

See IDI1 in Genome Data Viewer
Location:
10p15.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (1039152..1056704, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (1085963..1095061, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984285 Neighboring gene Sharpr-MPRA regulatory region 2332 Neighboring gene GTP binding protein 4 Neighboring gene IDI2 antisense RNA 1 Neighboring gene isopentenyl-diphosphate delta isomerase 2 Neighboring gene WD repeat domain 37 Neighboring gene uncharacterized LOC105376344 Neighboring gene long intergenic non-protein coding RNA 200

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
isopentenyl-diphosphate delta-isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
dimethylallyl diphosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
isopentenyl diphosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
isopentenyl-diphosphate Delta-isomerase 1
Names
IPP isomerase 1
isopentenyl diphosphate dimethylallyl diphosphate isomerase 1
isopentenyl pyrophosphate isomerase 1
NP_001304884.1
NP_001304885.1
NP_001304886.1
NP_004499.2
XP_016871680.1
XP_024303747.1
XP_024303748.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001317955.2NP_001304884.1  isopentenyl-diphosphate Delta-isomerase 1 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains alternate 5' exon structure, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 3 encode isoform b.
    Source sequence(s)
    AC022536, AI305202, BC006999, BC057827, BX110963, DB479813, HY182673
    UniProtKB/Swiss-Prot
    Q13907
    Conserved Domains (1) summary
    cl00447
    Location:22228
    Nudix_Hydrolase; Nudix hydrolase is a superfamily of enzymes found in all three kingdoms of life, and it catalyzes the hydrolysis of NUcleoside DIphosphates linked to other moieties, X. Enzymes belonging to this superfamily require a divalent cation, such as Mg2+ or Mn2+ ...
  2. NM_001317956.2NP_001304885.1  isopentenyl-diphosphate Delta-isomerase 1 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 3 encode isoform b.
    Source sequence(s)
    AC022536, AI305202, BC006999, BC057827, BI600349, BX110963, CD251816, DA185312
    UniProtKB/Swiss-Prot
    Q13907
    Related
    ENSP00000401879.2, ENST00000429642.2
    Conserved Domains (1) summary
    cl00447
    Location:22228
    Nudix_Hydrolase; Nudix hydrolase is a superfamily of enzymes found in all three kingdoms of life, and it catalyzes the hydrolysis of NUcleoside DIphosphates linked to other moieties, X. Enzymes belonging to this superfamily require a divalent cation, such as Mg2+ or Mn2+ ...
  3. NM_001317957.2NP_001304886.1  isopentenyl-diphosphate Delta-isomerase 1 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' terminal exon and lacks an exon in the 5' coding region, and it thus differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC022536, AI305202, BC006999, BC057827, BI600349, BX110963, DA185312, DA792902
    UniProtKB/Swiss-Prot
    Q13907
    Conserved Domains (1) summary
    cl00447
    Location:18198
    Nudix_Hydrolase; Nudix hydrolase is a superfamily of enzymes found in all three kingdoms of life, and it catalyzes the hydrolysis of NUcleoside DIphosphates linked to other moieties, X. Enzymes belonging to this superfamily require a divalent cation, such as Mg2+ or Mn2+ ...
  4. NM_004508.4NP_004499.2  isopentenyl-diphosphate Delta-isomerase 1 isoform a

    See identical proteins and their annotated locations for NP_004499.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC022536
    Consensus CDS
    CCDS7056.1
    UniProtKB/Swiss-Prot
    Q13907
    Related
    ENSP00000370748.3, ENST00000381344.7
    Conserved Domains (2) summary
    COG1443
    Location:76265
    Idi; Isopentenyldiphosphate isomerase [Lipid transport and metabolism]
    cl00447
    Location:78284
    Nudix_Hydrolase; Nudix hydrolase is a superfamily of enzymes found in all three kingdoms of life, and it catalyzes the hydrolysis of NUcleoside DIphosphates linked to other moieties, X. Enzymes belonging to this superfamily require a divalent cation, such as Mg2+ or Mn2+ ...

RNA

  1. NR_134300.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains alternate 5' exon structure and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because it lacks an ORF that is in-frame with the supported coding region.
    Source sequence(s)
    AC022536, AI305202, BC006999, BX110963, DA842794, DB479813, HY182673
  2. NR_134301.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI305202, AK311110, BC006999, BX110963, CN481934, DA289206

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    1039152..1056704 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447979.1XP_024303747.1  isopentenyl-diphosphate Delta-isomerase 1 isoform X2

    Conserved Domains (1) summary
    cl00447
    Location:13191
    Nudix_Hydrolase; Nudix hydrolase is a superfamily of enzymes found in all three kingdoms of life, and it catalyzes the hydrolysis of NUcleoside DIphosphates linked to other moieties, X. Enzymes belonging to this superfamily require a divalent cation, such as Mg2+ or Mn2+ ...
  2. XM_017016191.2XP_016871680.1  isopentenyl-diphosphate Delta-isomerase 1 isoform X1

  3. XM_024447980.1XP_024303748.1  isopentenyl-diphosphate Delta-isomerase 1 isoform X3

    Conserved Domains (1) summary
    cl00447
    Location:1187
    Nudix_Hydrolase; Nudix hydrolase is a superfamily of enzymes found in all three kingdoms of life, and it catalyzes the hydrolysis of NUcleoside DIphosphates linked to other moieties, X. Enzymes belonging to this superfamily require a divalent cation, such as Mg2+ or Mn2+ ...
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