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

    Gene ID: 3422, updated on 9-Apr-2018
    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; Vega:OTTHUMG00000017536
    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
    Location:
    10p15.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (1039419..1056716, 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 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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    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
     
    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
     
    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
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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_001317955.1NP_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_001317956.1NP_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)
      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_001317957.1NP_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)
      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_004508.3NP_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)
      AI305202, AK303669, BC006999, BX110963, CN481934, DA289206
      Consensus CDS
      CCDS7056.1
      UniProtKB/Swiss-Prot
      Q13907
      Related
      ENSP00000370748.3, OTTHUMP00000018951, ENST00000381344.7, OTTHUMT00000046409
      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_134300.1 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 Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

      Range
      1039419..1056716 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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