1. Gene
  2. IDI1 - isopentenyl-diphosphate delta isomerase 1 Gene

IDI1 - isopentenyl-diphosphate delta isomerase 1 Gene

Homo sapiens

Also known as IPP1; IPPI1

Gene ID: 3422 | Gene type: protein coding

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

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