IDI1 Gene - Isopentenyl-Diphosphate Delta Isomerase 1
Key enzyme in the mevalonate pathway for cholesterol and isoprenoid biosynthesis
Gene Information Card
| Symbol | IDI1 |
|---|---|
| Full Name | Isopentenyl-Diphosphate Delta Isomerase 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 10p15.3 |
| NCBI Gene ID | 3422 ncbi.nlm.nih.gov/gene/3422 |
| Ensembl ID | ENSG00000138160 |
| UniProt ID | Q13907 |
| OMIM ID | 604055 |
| HGNC ID | 5389 |
| Aliases | IPPI1, IPP isomerase 1 |
Description
The IDI1 gene encodes isopentenyl-diphosphate delta isomerase 1, an enzyme that catalyzes the conversion of isopentenyl diphosphate (IPP) to dimethylallyl diphosphate (DMAPP), a critical step in the mevalonate pathway. This pathway is essential for the biosynthesis of cholesterol, steroid hormones, vitamin K, coenzyme Q10, and all isoprenoids. IDI1 is expressed in various tissues and is involved in cellular growth and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mevalonate Kinase Deficiency | Deficiency in IDI1 leads to accumulation of mevalonic acid and impaired isoprenoid synthesis, causing autoinflammatory disease. | OMIM #610377 |
| Hyperimmunoglobulinemia D with Periodic Fever Syndrome | IDI1 mutations disrupt isoprenoid metabolism, leading to recurrent fevers and elevated IgD. | OMIM #260920 |
| Cancer (various) | Altered IDI1 expression affects mevalonate pathway flux, promoting tumor growth and metastasis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Adrenal Gland | 8.3 | Medium |
| Kidney | 6.1 | Medium |
| Brain | 2.4 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| A549 | 9.7 | Lung adenocarcinoma cell line |
| MCF7 | 5.4 | Breast cancer cell line |
| HEK293 | 3.1 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.275A>G (p.Asn92Ser) | Missense | 0.01% | Reduced enzyme activity; associated with mevalonate kinase deficiency |
| c.457C>T (p.Arg153Trp) | Missense | 0.005% | Loss of function; linked to hyper-IgD syndrome |
| c.1A>G (p.Met1Val) | Start loss | <0.001% | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Most IDI1 mutations are loss-of-function, reducing or abolishing isomerase activity, leading to mevalonate accumulation and isoprenoid deficiency.
Gain of Function (GOF)
No gain-of-function mutations have been reported in IDI1.
Dominant Negative (DN)
No dominant-negative mutations have been described for IDI1.
View complete mutation data：
Gene Ontology (GO)
| • isopentenyl-diphosphate delta-isomerase activity | • magnesium ion binding |
| • mevalonate pathway | • isoprenoid biosynthetic process |
| • cholesterol biosynthetic process | • cytoplasm |
Pathways
• Mevalonate pathway (KEGG: hsa00900)
• Terpenoid backbone biosynthesis (KEGG: hsa00900)
• Steroid biosynthesis (KEGG: hsa00100)
Protein Summary
IDI1 is a 227-amino acid protein localized in the cytoplasm. It functions as a homodimer and requires magnesium ions for catalytic activity. The enzyme interconverts IPP and DMAPP, providing the building blocks for all isoprenoids. Structural studies reveal a TIM barrel fold with a conserved active site. Post-translational modifications include phosphorylation at Ser-195, which may regulate activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IDI1 Knockout HEK293 Cell Line | EDJ-KQ4965 | Human | 3422 | Details Get a Quote |
| IDI1 Knockout A-549 Cell Line | EDJ-KQ27842 | Human | 3422 | Details Get a Quote |
| IDI1 Knockout HCT 116 Cell Line | EDJ-KQ27843 | Human | 3422 | Details Get a Quote |
| IDI1 Knockout HeLa Cell Line | EDJ-KQ27844 | Human | 3422 | Details Get a Quote |
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