IDI1
gene geneOn this page
Summary
IDI1 (isopentenyl-diphosphate delta isomerase 1, HGNC:5387) is a protein-coding gene on chromosome 10p15.3, encoding Isopentenyl-diphosphate Delta-isomerase 1 (Q13907). Catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (IPP) to its highly electrophilic allylic isomer, dimethylallyl diphosphate (DMAPP).
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.
Source: NCBI Gene 3422 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 48 total
- MANE Select transcript:
NM_004508
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5387 |
| Approved symbol | IDI1 |
| Name | isopentenyl-diphosphate delta isomerase 1 |
| Location | 10p15.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000067064 |
| Ensembl biotype | protein_coding |
| OMIM | 604055 |
| Entrez | 3422 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000381344, ENST00000427898, ENST00000429642, ENST00000482091, ENST00000491735, ENST00000695775
RefSeq mRNA: 4 — MANE Select: NM_004508
NM_001317955, NM_001317956, NM_001317957, NM_004508
CCDS: CCDS7056, CCDS91201
Canonical transcript exons
ENST00000381344 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001488346 | 1039419 | 1041504 |
| ENSE00003500071 | 1043301 | 1043393 |
| ENSE00003638182 | 1043999 | 1044171 |
| ENSE00003785876 | 1042632 | 1042762 |
| ENSE00003964996 | 1048864 | 1049119 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.62.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 43.5164 / max 816.2354, expressed in 1812 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 107877 | 36.3954 | 1807 |
| 107878 | 4.2163 | 1234 |
| 107879 | 2.6105 | 1369 |
| 107876 | 0.1704 | 56 |
| 107875 | 0.1239 | 47 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 99.62 | gold quality |
| amniotic fluid | UBERON:0000173 | 99.21 | gold quality |
| pons | UBERON:0000988 | 98.46 | gold quality |
| ventricular zone | UBERON:0003053 | 98.46 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 98.34 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.30 | gold quality |
| endometrium epithelium | UBERON:0004811 | 98.30 | gold quality |
| embryo | UBERON:0000922 | 97.97 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 97.88 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 97.72 | gold quality |
| frontal pole | UBERON:0002795 | 97.71 | gold quality |
| medulla oblongata | UBERON:0001896 | 97.52 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.50 | gold quality |
| spinal cord | UBERON:0002240 | 97.48 | gold quality |
| biceps brachii | UBERON:0001507 | 97.45 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 97.41 | gold quality |
| cortical plate | UBERON:0005343 | 97.36 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 97.26 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 97.26 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 97.23 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 97.22 | gold quality |
| medial globus pallidus | UBERON:0002477 | 97.16 | gold quality |
| cranial nerve II | UBERON:0000941 | 97.12 | gold quality |
| deltoid | UBERON:0001476 | 97.12 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.09 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 97.09 | gold quality |
| ventral tegmental area | UBERON:0002691 | 97.03 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 97.00 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.98 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 96.96 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-25 | yes | 3955.17 |
| E-MTAB-10485 | yes | 1292.07 |
| E-GEOD-84465 | yes | 22.75 |
| E-GEOD-135922 | yes | 13.48 |
| E-MTAB-6819 | no | 1066.19 |
| E-MTAB-7606 | no | 546.71 |
| E-MTAB-3929 | no | 409.65 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
76 targeting IDI1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-4639-5P | 99.81 | 67.37 | 1028 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
| HSA-MIR-646 | 99.68 | 67.84 | 1645 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-7157-5P | 99.66 | 69.33 | 1829 |
Literature-anchored findings (GeneRIF, showing 4)
- only one of the two isoforms (IDI1) is highly conserved, ubiquitously expressed and most likely responsible for housekeeping isomerase activity (PMID:14629038)
- Within the 40-kb region on 10p15.3 subtelomere, which harbours two genes encoding isopentenyl diphosphate isomerase 1 (IDI1) and IDI2, there was found a segmental copy-number gain in a large proportion of sporadic amyotrophic lateral sclerosis patients. (PMID:20955688)
- The present findings suggest that IDI1 and IDI2 may be associated with the production of cholesterol metabolites in neurons, leading to alpha-synuclein aggregation during the process of Lewy body formation. (PMID:25950736)
- Canonical pathway analysis, using Ingenuity Pathway Analysis software, revealed that the only genes in the “superpathway of cholesterol biosynthesis” were Idi1 (upregulated) and Hmgcs2 (downregulated). The Idi1 and Hmgcs2 genes have regulatory roles in atrial lipotoxic myopathy associated with atrial enlargement (PMID:30567295)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | idi1 | ENSDARG00000019976 |
| mus_musculus | Idi1 | ENSMUSG00000058258 |
| rattus_norvegicus | Idi1 | ENSRNOG00000016690 |
| drosophila_melanogaster | Idi | FBGN0038876 |
| caenorhabditis_elegans | WBGENE00019460 |
Paralogs (1): IDI2 (ENSG00000148377)
Protein
Protein identifiers
Isopentenyl-diphosphate Delta-isomerase 1 — Q13907 (reviewed: Q13907)
Alternative names: Isopentenyl pyrophosphate isomerase 1
All UniProt accessions (3): Q13907, A0A8Q3WKR8, C9JD53
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (IPP) to its highly electrophilic allylic isomer, dimethylallyl diphosphate (DMAPP).
Subunit / interactions. Monomer.
Subcellular location. Peroxisome.
Cofactor. Binds 1 Mg(2+) ion per subunit.
Pathway. Isoprenoid biosynthesis; dimethylallyl diphosphate biosynthesis; dimethylallyl diphosphate from isopentenyl diphosphate: step 1/1.
Similarity. Belongs to the IPP isomerase type 1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q13907-1 | 1 | yes |
| Q13907-2 | 2 |
RefSeq proteins (4): NP_001304884, NP_001304885, NP_001304886, NP_004499* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000086 | NUDIX_hydrolase_dom | Domain |
| IPR011876 | IsopentenylPP_isomerase_typ1 | Family |
| IPR015797 | NUDIX_hydrolase-like_dom_sf | Homologous_superfamily |
Pfam: PF00293
Enzyme classification (BRENDA):
- EC 5.3.3.2 — isopentenyl-diphosphate DELTA-isomerase (BRENDA: 50 organisms, 36 substrates, 92 inhibitors, 76 Km, 23 kcat entries)
Substrate kinetics (BRENDA)
3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| ISOPENTENYL DIPHOSPHATE | 0.0008–15.3 | 72 |
| NADH | 0.0874–0.0904 | 2 |
| DIMETHYLALLYL DIPHOSPHATE | 0.017 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- isopentenyl diphosphate = dimethylallyl diphosphate (RHEA:23284)
UniProt features (47 total): helix 13, strand 11, binding site 8, sequence conflict 5, turn 3, active site 2, chain 1, domain 1, modified residue 1, splice variant 1, short sequence motif 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2DHO | X-RAY DIFFRACTION | 1.6 |
| 2ICJ | X-RAY DIFFRACTION | 1.7 |
| 2ICK | X-RAY DIFFRACTION | 1.93 |
| 2I6K | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13907-F1 | 97.14 | 0.96 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (2): 86; 148
Ligand- & substrate-binding residues (8): 87; 146; 148; 36; 40; 51; 70; 74
Post-translational modifications (1): 176
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-2426168 | Activation of gene expression by SREBF (SREBP) |
| R-HSA-9969896 | Lanosterol biosynthesis |
| R-HSA-191273 | Cholesterol biosynthesis |
MSigDB gene sets: 303 (showing top):
GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, JI_RESPONSE_TO_FSH_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, PATIL_LIVER_CANCER, PUJANA_CHEK2_PCC_NETWORK, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, WEI_MYCN_TARGETS_WITH_E_BOX, SMITH_TERT_TARGETS_DN, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, KOKKINAKIS_METHIONINE_DEPRIVATION_96HR_UP, YU_MYC_TARGETS_UP, UEDA_PERIFERAL_CLOCK, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN
GO Biological Process (10): cholesterol biosynthetic process (GO:0006695), isoprenoid biosynthetic process (GO:0008299), isopentenyl diphosphate biosynthetic process (GO:0009240), response to stilbenoid (GO:0035634), dimethylallyl diphosphate biosynthetic process (GO:0050992), lipid metabolic process (GO:0006629), steroid biosynthetic process (GO:0006694), steroid metabolic process (GO:0008202), cholesterol metabolic process (GO:0008203), sterol biosynthetic process (GO:0016126)
GO Molecular Function (7): magnesium ion binding (GO:0000287), isopentenyl-diphosphate delta-isomerase activity (GO:0004452), manganese ion binding (GO:0030145), metal ion binding (GO:0046872), protein binding (GO:0005515), isomerase activity (GO:0016853), intramolecular oxidoreductase activity (GO:0016860)
GO Cellular Component (3): cytoplasm (GO:0005737), peroxisome (GO:0005777), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Regulation of cholesterol biosynthesis by SREBP (SREBF) | 1 |
| Cholesterol biosynthesis | 1 |
| Metabolism of steroids | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| lipid biosynthetic process | 2 |
| phospholipid biosynthetic process | 2 |
| sterol metabolic process | 2 |
| cellular anatomical structure | 2 |
| cholesterol metabolic process | 1 |
| sterol biosynthetic process | 1 |
| secondary alcohol biosynthetic process | 1 |
| isoprenoid metabolic process | 1 |
| isoprenoid biosynthetic process | 1 |
| isopentenyl diphosphate metabolic process | 1 |
| response to chemical | 1 |
| dimethylallyl diphosphate metabolic process | 1 |
| primary metabolic process | 1 |
| steroid metabolic process | 1 |
| lipid metabolic process | 1 |
| secondary alcohol metabolic process | 1 |
| steroid biosynthetic process | 1 |
| metal ion binding | 1 |
| intramolecular oxidoreductase activity, transposing C=C bonds | 1 |
| transition metal ion binding | 1 |
| cation binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| isomerase activity | 1 |
| intracellular anatomical structure | 1 |
| microbody | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1204 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IDI1 | MVD | P53602 | 843 |
| IDI1 | SQLE | Q14534 | 842 |
| IDI1 | FDFT1 | P37268 | 842 |
| IDI1 | HMGCS1 | Q01581 | 828 |
| IDI1 | FDPS | P14324 | 825 |
| IDI1 | MVK | Q03426 | 810 |
| IDI1 | HMGCR | P04035 | 809 |
| IDI1 | GGPS1 | O95749 | 805 |
| IDI1 | PMVK | Q15126 | 799 |
| IDI1 | DHCR7 | Q9UBM7 | 769 |
| IDI1 | MSMO1 | Q15800 | 767 |
| IDI1 | CYP51A1 | Q16850 | 764 |
| IDI1 | INSIG1 | O15503 | 739 |
| IDI1 | HSD17B7 | P56937 | 731 |
| IDI1 | DHCR24 | Q15392 | 717 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IDI1 | VWA8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| IDI1 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| IDI1 | WT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| rep | MYCBP2 | psi-mi:“MI:0914”(association) | 0.350 |
| IDI1 | BLMH | psi-mi:“MI:0914”(association) | 0.350 |
| FECH | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| FN1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| IMMP1L | NUDT19 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (46): VWA8 (Affinity Capture-MS), VWA8 (Affinity Capture-MS), IDI1 (Two-hybrid), IDI1 (Proximity Label-MS), IDI1 (Affinity Capture-MS), IDI1 (Affinity Capture-MS), IDI1 (Affinity Capture-MS), IDI1 (Affinity Capture-MS), ZNF655 (Two-hybrid), IDI1 (Affinity Capture-MS), IDI1 (Proximity Label-MS), IDI1 (Affinity Capture-MS), IDI1 (Proximity Label-MS), IDI1 (Proximity Label-MS), IDI1 (Proximity Label-MS)
ESM2 similar proteins: A0A7C9FSB8, A2TLM1, A6H7H7, B8BKI7, B9N1F9, B9SQI7, D2XV59, E0CSI1, F1N9S8, O00178, O08582, O35586, O35760, O48964, O48965, O76031, O81770, P11029, P11497, P58044, P69341, Q0J035, Q13085, Q13907, Q14165, Q1LZ95, Q1LZ96, Q28559, Q2R483, Q38929, Q39471, Q39472, Q39664, Q3UMR5, Q42553, Q4R4W5, Q5NVE1, Q5R8R6, Q5SWU9, Q5U2U0
Diamond homologs: A0A1D8PLI2, A0A7C9FSB8, A1T5G2, A4FK76, A8GDW2, A9AST0, A9MRI5, B1VTW2, B5F9P6, I1RZ92, O35586, O35760, O42641, O48964, O48965, P15496, P58044, Q0RBQ7, Q10132, Q13907, Q1LZ95, Q38929, Q39471, Q39472, Q39664, Q42553, Q4R4W5, Q4WM52, Q5E7U8, Q5NWG5, Q5R8R6, Q5YYB6, Q6A5Z1, Q6D3F5, Q7N0A6, Q82MJ7, Q8BFZ6, Q9BXS1, Q9NH02, Q9X7Q6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
48 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 37 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
719 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:1041504:CCTAA:C | acceptor_loss | 1.0000 |
| 10:1041505:C:CA | acceptor_loss | 1.0000 |
| 10:1041505:C:CC | acceptor_gain | 1.0000 |
| 10:1041506:T:G | acceptor_loss | 1.0000 |
| 10:1042627:GTTAC:G | donor_loss | 1.0000 |
| 10:1042628:TTAC:T | donor_loss | 1.0000 |
| 10:1042629:TA:T | donor_loss | 1.0000 |
| 10:1042631:C:CA | donor_loss | 1.0000 |
| 10:1042631:CCT:C | donor_gain | 1.0000 |
| 10:1042759:CAAC:C | acceptor_gain | 1.0000 |
| 10:1042764:T:G | acceptor_loss | 1.0000 |
| 10:1043298:AAC:A | donor_loss | 1.0000 |
| 10:1043299:A:AC | donor_gain | 1.0000 |
| 10:1043299:A:AT | donor_loss | 1.0000 |
| 10:1043300:C:CC | donor_gain | 1.0000 |
| 10:1043300:C:CG | donor_loss | 1.0000 |
| 10:1043389:TAATC:T | acceptor_gain | 1.0000 |
| 10:1043390:AATC:A | acceptor_gain | 1.0000 |
| 10:1043391:ATC:A | acceptor_gain | 1.0000 |
| 10:1043391:ATCC:A | acceptor_loss | 1.0000 |
| 10:1043392:TC:T | acceptor_gain | 1.0000 |
| 10:1043393:CC:C | acceptor_gain | 1.0000 |
| 10:1043393:CCT:C | acceptor_loss | 1.0000 |
| 10:1043394:C:CC | acceptor_gain | 1.0000 |
| 10:1043394:CTG:C | acceptor_loss | 1.0000 |
| 10:1043395:T:C | acceptor_loss | 1.0000 |
| 10:1043401:C:CT | acceptor_gain | 1.0000 |
| 10:1043402:A:T | acceptor_gain | 1.0000 |
| 10:1042647:T:TA | donor_gain | 0.9900 |
| 10:1042652:G:C | donor_gain | 0.9900 |
AlphaMissense
1878 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:1042734:A:C | H88Q | 0.996 |
| 10:1042734:A:T | H88Q | 0.996 |
| 10:1042736:G:C | H88D | 0.996 |
| 10:1043371:A:C | S55R | 0.996 |
| 10:1043371:A:T | S55R | 0.996 |
| 10:1043373:T:G | S55R | 0.996 |
| 10:1043305:A:C | F77L | 0.995 |
| 10:1043305:A:T | F77L | 0.995 |
| 10:1043307:A:G | F77L | 0.995 |
| 10:1043327:C:G | R70T | 0.995 |
| 10:1043374:A:C | F54L | 0.995 |
| 10:1043374:A:T | F54L | 0.995 |
| 10:1043376:A:G | F54L | 0.995 |
| 10:1044033:C:A | K36N | 0.995 |
| 10:1044033:C:G | K36N | 0.995 |
| 10:1042749:A:C | N83K | 0.994 |
| 10:1042749:A:T | N83K | 0.994 |
| 10:1043314:C:A | K74N | 0.994 |
| 10:1043314:C:G | K74N | 0.994 |
| 10:1043326:T:A | R70S | 0.994 |
| 10:1043326:T:G | R70S | 0.994 |
| 10:1043385:G:C | H51D | 0.993 |
| 10:1044023:G:C | H40D | 0.993 |
| 10:1044024:A:C | C39W | 0.993 |
| 10:1042663:A:G | L112P | 0.992 |
| 10:1041285:A:G | W196R | 0.991 |
| 10:1041285:A:T | W196R | 0.991 |
| 10:1041427:T:A | E148D | 0.991 |
| 10:1041427:T:G | E148D | 0.991 |
| 10:1042737:A:C | S87R | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000115722 (10:1049307 C>A,T), RS1000127747 (10:1046000 A>C), RS1000216791 (10:1039848 G>A), RS1000336083 (10:1048078 G>A), RS1000340233 (10:1051424 G>A), RS1000783377 (10:1039409 T>C,G), RS1001465854 (10:1040150 G>A), RS1001552146 (10:1047931 C>T), RS1001669736 (10:1052479 A>G), RS1001673336 (10:1047601 T>C), RS1001743449 (10:1052748 G>A,C), RS1001810412 (10:1052353 T>C), RS1001919698 (10:1047721 G>C), RS1002168730 (10:1050785 A>G), RS1002507679 (10:1056184 A>C)
Disease associations
OMIM: gene MIM:604055 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — Lanosterol biosynthesis pathway
Most potent curated ligand interactions (1 total), top 1:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| NE21650 | Inhibition | 4.2 | pIC50 |
CTD chemical–gene interactions
124 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| perfluorooctane sulfonic acid | decreases expression | 5 |
| Valproic Acid | affects expression, decreases expression | 4 |
| Cyclosporine | affects cotreatment, affects expression, decreases expression | 4 |
| bisphenol A | decreases methylation, increases expression, affects expression, affects methylation, affects cotreatment | 3 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 3 |
| Cisplatin | affects cotreatment, increases expression, affects expression | 3 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Benzo(a)pyrene | decreases expression | 2 |
| Quercetin | decreases expression | 2 |
| Tunicamycin | decreases expression | 2 |
| Aflatoxin B1 | affects expression, decreases expression, decreases methylation | 2 |
| beta-Naphthoflavone | decreases expression | 2 |
| aristolochic acid I | decreases expression, increases expression | 1 |
| afuresertib | increases expression | 1 |
| 6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine | increases expression | 1 |
| bisphenol F | increases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| 22-hydroxycholesterol | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| alpha phellandrene | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| dodecyldimethylamine oxide | increases expression | 1 |
| o,p’-DDT | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.