IDI1 - isopentenyl-diphosphate delta isomerase 1 Gene

Also Known as IPP1; IPPI1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3422

About IDI1

Cytogenetic location: 10p15.3 Genomic coordinates (GRCh38): 10:1,039,152-1,056,704 (from NCBI)

This gene has 6 transcripts (splice variants), 212 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 23.9), brain (RPKM 23.0) and 25 other tissues.

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]

IDI1 Products (4)

mRNA Protein Name
NM_001317955.2 NP_001304884.1 isopentenyl-diphosphate Delta-isomerase 1 isoform b
NM_001317956.2 NP_001304885.1 isopentenyl-diphosphate Delta-isomerase 1 isoform b
NM_001317957.2 NP_001304886.1 isopentenyl-diphosphate Delta-isomerase 1 isoform c
NM_004508.4 NP_004499.2 isopentenyl-diphosphate Delta-isomerase 1 isoform a
Molecular Function GO Annotation Evidence References Source
enables isopentenyl-diphosphate delta-isomerase activity IDA
IDA: Inferred from direct assay
8806705 GOA
enables magnesium ion binding IDA
IDA: Inferred from direct assay
17250851 GOA
enables manganese ion binding IDA
IDA: Inferred from direct assay
17250851 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
involved in isoprenoid biosynthetic process IDA
IDA: Inferred from direct assay
8806705 GOA
Cellular Component GO Annotation Evidence References Source
located in peroxisome IDA
IDA: Inferred from direct assay
17180682 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IDI1 Protein Structure

NUDIX

NUDIX: NUDIX domain (108 - 256)

  • 0
  • 100
  • 200
  • 284 a.a.
Protein Preferred Names Protein Names

isopentenyl-diphosphate Delta-isomerase 1

  • IPP isomerase 1

Related Diseases

Diseases Alias
Zellweger Syndrome
  • Cerebrohepatorenal Syndrome

  • Zellweger Leukodystrophy

  • Zs

  • Congenital Iron Overload

  • Chr

  • Zws

  • Severe Pbd-Zsd

  • Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Neonatal Adrenoleukodystrophy
  • Nald

  • Adrenoleukodystrophy Autosomal Neonatal Form

  • Intermediate Pbd-Zsd

  • Intermediate Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

  • Adrenoleukodystrophy, Autosomal, Neonatal Form

  • Adrenoleukodystrophy Neonatal

  • Adrenoleukodystrophy, Neonatal

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta IDI1 VGNC VGNC:73559
Rattus norvegicus IDI1 RGD RGD:621835
Mus musculus IDI1 MGD MGI:2442264
Others IDI1 NCBI