ELOVL3
gene geneOn this page
Also known as CIG-30
Summary
ELOVL3 (ELOVL fatty acid elongase 3, HGNC:18047) is a protein-coding gene on chromosome 10q24.32, encoding Very long chain fatty acid elongase 3 (Q9HB03). Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle.
This gene encodes a protein that belongs to the GNS1/SUR4 family. Members of this family play a role in elongation of long chain fatty acids to provide precursors for synthesis of sphingolipids and ceramides.
Source: NCBI Gene 83401 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 46 total
- Druggable target: yes
- MANE Select transcript:
NM_152310
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18047 |
| Approved symbol | ELOVL3 |
| Name | ELOVL fatty acid elongase 3 |
| Location | 10q24.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CIG-30 |
| Ensembl gene | ENSG00000119915 |
| Ensembl biotype | protein_coding |
| OMIM | 611815 |
| Entrez | 83401 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000370005
RefSeq mRNA: 1 — MANE Select: NM_152310
NM_152310
CCDS: CCDS7531
Canonical transcript exons
ENST00000370005 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000811501 | 102228417 | 102228568 |
| ENSE00000811502 | 102227626 | 102227757 |
| ENSE00001451468 | 102228825 | 102229589 |
| ENSE00001451470 | 102226299 | 102226649 |
Expression profiles
Bgee: expression breadth ubiquitous, 141 present calls, max score 96.72.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1580 / max 10.1365, expressed in 72 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 106690 | 0.1580 | 72 |
Top tissues by expression
245 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper leg skin | UBERON:0004262 | 96.72 | gold quality |
| upper arm skin | UBERON:0004263 | 91.22 | gold quality |
| mammalian vulva | UBERON:0000997 | 89.92 | gold quality |
| oocyte | CL:0000023 | 88.01 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.33 | gold quality |
| secondary oocyte | CL:0000655 | 79.73 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.39 | gold quality |
| adrenal tissue | UBERON:0018303 | 72.55 | gold quality |
| skin of abdomen | UBERON:0001416 | 72.04 | gold quality |
| monocyte | CL:0000576 | 69.46 | gold quality |
| zone of skin | UBERON:0000014 | 69.36 | gold quality |
| leukocyte | CL:0000738 | 68.87 | gold quality |
| skin of leg | UBERON:0001511 | 66.35 | gold quality |
| right lung | UBERON:0002167 | 64.60 | gold quality |
| granulocyte | CL:0000094 | 63.48 | gold quality |
| omental fat pad | UBERON:0010414 | 62.84 | gold quality |
| peritoneum | UBERON:0002358 | 62.78 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 62.42 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 62.01 | gold quality |
| adipose tissue | UBERON:0001013 | 60.64 | gold quality |
| ileal mucosa | UBERON:0000331 | 59.92 | silver quality |
| nipple | UBERON:0002030 | 59.35 | gold quality |
| right adrenal gland | UBERON:0001233 | 59.28 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 58.76 | gold quality |
| bone marrow cell | CL:0002092 | 58.47 | gold quality |
| bone marrow | UBERON:0002371 | 57.61 | gold quality |
| tibialis anterior | UBERON:0001385 | 56.58 | silver quality |
| upper lobe of left lung | UBERON:0008952 | 56.42 | gold quality |
| adrenal cortex | UBERON:0001235 | 56.13 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 55.99 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.29 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR1H3, PPARA, PPARG, SREBF1
miRNA regulators (miRDB)
32 targeting ELOVL3, 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-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-2116-3P | 99.74 | 64.32 | 889 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-451B | 99.55 | 68.28 | 1380 |
| HSA-MIR-302B-5P | 99.50 | 69.49 | 1857 |
| HSA-MIR-302D-5P | 99.50 | 69.34 | 1863 |
| HSA-MIR-653-5P | 99.46 | 67.35 | 1300 |
| HSA-MIR-532-3P | 99.34 | 65.76 | 1195 |
| HSA-MIR-4254 | 99.11 | 65.15 | 1315 |
| HSA-MIR-4434 | 99.10 | 67.01 | 1984 |
| HSA-MIR-5703 | 99.10 | 67.09 | 2053 |
| HSA-MIR-382-3P | 98.83 | 67.10 | 1074 |
| HSA-MIR-6501-3P | 98.71 | 67.45 | 1480 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-4782-5P | 98.35 | 69.33 | 1474 |
| HSA-MIR-5706 | 98.35 | 69.33 | 1463 |
| HSA-MIR-6867-3P | 98.12 | 66.07 | 1305 |
| HSA-MIR-8089 | 97.74 | 66.21 | 1698 |
Literature-anchored findings (GeneRIF, showing 2)
- Study found that BRG1 expression was up-regulated along with Elvol3 in prostate cancer cells. BRG1 over-expression dose-dependently augmented the induction of the Elovl3 promoter activity, suggesting that regulation of Elovl3 expression by BRG1 occurred at the transcriptional level. (PMID:31154107)
- Elongation of very long chain fatty acids-3 (Elovl3) is activated by ZHX2 and is a regulator of cell cycle progression. (PMID:37847682)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zgc:92749 | ENSDARG00000012632 |
| danio_rerio | elovl6l | ENSDARG00000038639 |
| mus_musculus | Elovl3 | ENSMUSG00000038754 |
| rattus_norvegicus | Elovl3 | ENSRNOG00000019124 |
| drosophila_melanogaster | Baldspot | FBGN0260960 |
| caenorhabditis_elegans | WBGENE00001241 | |
| caenorhabditis_elegans | WBGENE00001242 | |
| caenorhabditis_elegans | WBGENE00001247 |
Paralogs (6): ELOVL5 (ENSG00000012660), ELOVL1 (ENSG00000066322), ELOVL4 (ENSG00000118402), ELOVL7 (ENSG00000164181), ELOVL6 (ENSG00000170522), ELOVL2 (ENSG00000197977)
Protein
Protein identifiers
Very long chain fatty acid elongase 3 — Q9HB03 (reviewed: Q9HB03)
Alternative names: 3-keto acyl-CoA synthase ELOVL3, Cold-inducible glycoprotein of 30 kDa, ELOVL fatty acid elongase 3, Elongation of very long chain fatty acids protein 3, Very long chain 3-ketoacyl-CoA synthase 3, Very long chain 3-oxoacyl-CoA synthase 3
All UniProt accessions (1): Q9HB03
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that exhibits activity toward saturated and unsaturated acyl-CoA substrates with higher activity toward C18 acyl-CoAs, especially C18:0 acyl-CoAs. May participate in the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.
Subunit / interactions. Interacts with TECR.
Subcellular location. Endoplasmic reticulum membrane.
Tissue specificity. Testis.
Post-translational modifications. N-Glycosylated.
Domain organisation. The C-terminal di-lysine motif may confer endoplasmic reticulum localization.
Pathway. Lipid metabolism; polyunsaturated fatty acid biosynthesis.
Similarity. Belongs to the ELO family. ELOVL3 subfamily.
RefSeq proteins (1): NP_689523* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002076 | ELO_fam | Family |
| IPR030457 | ELO_CS | Conserved_site |
| IPR033679 | ELOVL3 | Family |
Pfam: PF01151
Catalyzed reactions (Rhea), 9 shown:
- a very-long-chain acyl-CoA + malonyl-CoA + H(+) = a very-long-chain 3-oxoacyl-CoA + CO2 + CoA (RHEA:32727)
- hexadecanoyl-CoA + malonyl-CoA + H(+) = 3-oxooctadecanoyl-CoA + CO2 + CoA (RHEA:35315)
- octadecanoyl-CoA + malonyl-CoA + H(+) = 3-oxoeicosanoyl-CoA + CO2 + CoA (RHEA:35319)
- eicosanoyl-CoA + malonyl-CoA + H(+) = 3-oxodocosanoyl-CoA + CO2 + CoA (RHEA:35327)
- (9Z,12Z)-octadecadienoyl-CoA + malonyl-CoA + H(+) = (11Z,14Z)-3-oxoicosa-11,14-dienoyl-CoA + CO2 + CoA (RHEA:36503)
- docosanoyl-CoA + malonyl-CoA + H(+) = 3-oxotetracosanoyl-CoA + CO2 + CoA (RHEA:36507)
- (9Z)-octadecenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(11Z)-eicosenoyl-CoA + CO2 + CoA (RHEA:36511)
- (9Z,12Z,15Z)-octadecatrienoyl-CoA + malonyl-CoA + H(+) = (11Z,14Z,17Z)-3-oxoeicosatrienoyl-CoA + CO2 + CoA (RHEA:36523)
- tetradecanoyl-CoA + malonyl-CoA + H(+) = 3-oxohexadecanoyl-CoA + CO2 + CoA (RHEA:39167)
UniProt features (11 total): transmembrane region 7, glycosylation site 2, chain 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HB03-F1 | 90.74 | 0.72 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (2): 110, 6
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-2046105 | Linoleic acid (LA) metabolism |
| R-HSA-2046106 | alpha-linolenic acid (ALA) metabolism |
| R-HSA-75876 | Synthesis of very long-chain fatty acyl-CoAs |
| R-HSA-9844594 | Transcriptional regulation of brown and beige adipocyte differentiation by EBF2 |
| R-HSA-9933387 | RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression |
MSigDB gene sets: 140 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, REACTOME_SYNTHESIS_OF_VERY_LONG_CHAIN_FATTY_ACYL_COAS, BENPORATH_ES_WITH_H3K27ME3, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, EVI1_05, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, MARTINEZ_RB1_TARGETS_UP, GOBP_FATTY_ACYL_COA_METABOLIC_PROCESS, GOBP_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS
GO Biological Process (14): unsaturated fatty acid biosynthetic process (GO:0006636), fatty acid elongation, saturated fatty acid (GO:0019367), sphingolipid biosynthetic process (GO:0030148), fatty acid elongation, monounsaturated fatty acid (GO:0034625), fatty acid elongation, polyunsaturated fatty acid (GO:0034626), long-chain fatty-acyl-CoA biosynthetic process (GO:0035338), alpha-linolenic acid metabolic process (GO:0036109), very long-chain fatty acid biosynthetic process (GO:0042761), linoleic acid metabolic process (GO:0043651), positive regulation of cold-induced thermogenesis (GO:0120162), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631), fatty acid biosynthetic process (GO:0006633), fatty acid elongation (GO:0030497)
GO Molecular Function (3): fatty acid elongase activity (GO:0009922), protein binding (GO:0005515), transferase activity (GO:0016740)
GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| alpha-linolenic (omega3) and linoleic (omega6) acid metabolism | 2 |
| Fatty acyl-CoA biosynthesis | 1 |
| Transcriptional regulation of brown and beige adipocyte differentiation | 1 |
| Circadian clock | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| fatty acid biosynthetic process | 3 |
| unsaturated fatty acid metabolic process | 3 |
| lipid biosynthetic process | 2 |
| fatty acid elongation, unsaturated fatty acid | 2 |
| long-chain fatty acid metabolic process | 2 |
| olefinic compound metabolic process | 2 |
| fatty acid elongation | 1 |
| sphingolipid metabolic process | 1 |
| long-chain fatty-acyl-CoA metabolic process | 1 |
| fatty-acyl-CoA biosynthetic process | 1 |
| very long-chain fatty acid metabolic process | 1 |
| positive regulation of multicellular organismal process | 1 |
| cold-induced thermogenesis | 1 |
| regulation of cold-induced thermogenesis | 1 |
| primary metabolic process | 1 |
| lipid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| fatty acid metabolic process | 1 |
| monocarboxylic acid biosynthetic process | 1 |
| acyltransferase activity, transferring groups other than amino-acyl groups | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
954 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ELOVL3 | CIDEA | O60543 | 809 |
| ELOVL3 | UCP1 | P25874 | 794 |
| ELOVL3 | AWAT1 | Q58HT5 | 755 |
| ELOVL3 | PRDM16 | Q9HAZ2 | 752 |
| ELOVL3 | DIO2 | Q92813 | 722 |
| ELOVL3 | FABP4 | P15090 | 695 |
| ELOVL3 | COX7A1 | P24310 | 694 |
| ELOVL3 | DGAT2 | Q96PD7 | 675 |
| ELOVL3 | PPARGC1A | Q9UBK2 | 664 |
| ELOVL3 | SCD | O00767 | 627 |
| ELOVL3 | PLIN1 | O60240 | 618 |
| ELOVL3 | TMEM26 | Q6ZUK4 | 598 |
| ELOVL3 | CPT1B | Q92523 | 578 |
| ELOVL3 | FASN | P49327 | 577 |
| ELOVL3 | ADRB3 | P13945 | 576 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TECR | HACD2 | psi-mi:“MI:0914”(association) | 0.850 |
| TECR | HACD1 | psi-mi:“MI:0914”(association) | 0.700 |
| MUC20 | ELOVL3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ELOVL3 | APOB | psi-mi:“MI:0914”(association) | 0.350 |
| TECR | HSD17B12 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (7): ELOVL3 (Synthetic Lethality), STOM (Affinity Capture-MS), APOB (Affinity Capture-MS), ACTA1 (Affinity Capture-MS), ATP13A3 (Affinity Capture-MS), ELOVL3 (Affinity Capture-Western), MUC20 (Two-hybrid)
ESM2 similar proteins: A0A0C5PHQ7, A0JNC4, A1L3X0, B4QVX4, D4A612, D4ADY9, G5EEE5, O35949, P49191, Q03574, Q1A3B0, Q1HRV8, Q20300, Q20303, Q2KJD9, Q32NI8, Q3S8M4, Q4D321, Q4D5J7, Q4DHY3, Q4DUK4, Q4QJ85, Q4R516, Q54TC9, Q57UP6, Q57X51, Q5M8U1, Q5RFL5, Q6GLX2, Q6P4N1, Q6PC64, Q84QC0, Q8BHI7, Q8IU89, Q920L5, Q920L6, Q920L7, Q95K73, Q9BW60, Q9D2Y9
Diamond homologs: A1L3X0, D4ADY9, G5EEE5, P49191, Q03574, Q20300, Q20303, Q4D5J7, Q4DHY2, Q4DUK4, Q4DUK7, Q4Q5G6, Q4QJ85, Q555E8, Q57UP7, Q57UP8, Q5ZJR8, Q6PC64, Q7LKX0, Q86JM5, Q920L5, Q920L6, Q9D2Y9, Q9H5J4, Q9HB03, Q9VH58, Q9VV87, Q9XVQ9, A0A0C5PHQ7, A0JNC4, O35949, Q2KJD9, Q4DHY3, Q4R516, Q54CJ4, Q57UP6, Q5RFL5, Q8BHI7, Q920L7, Q9BW60
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ELOVL3 | “down-regulates quantity” | palmitoyl-CoA | “chemical modification” |
| ELOVL3 | “up-regulates quantity” | 3-hydroxyoctadecanoyl-CoA | “chemical modification” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
46 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
876 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:102226621:GACA:G | donor_gain | 1.0000 |
| 10:102227113:G:GT | donor_gain | 1.0000 |
| 10:102227754:TCAGG:T | donor_loss | 1.0000 |
| 10:102227755:CAGG:C | donor_loss | 1.0000 |
| 10:102227756:AGGTA:A | donor_loss | 1.0000 |
| 10:102227757:GGTAA:G | donor_loss | 1.0000 |
| 10:102227759:T:G | donor_loss | 1.0000 |
| 10:102228415:A:AG | acceptor_gain | 1.0000 |
| 10:102228416:G:GA | acceptor_gain | 1.0000 |
| 10:102228416:GT:G | acceptor_gain | 1.0000 |
| 10:102226576:G:GT | donor_gain | 0.9900 |
| 10:102226641:G:GT | donor_gain | 0.9900 |
| 10:102226642:GAGTA:G | donor_gain | 0.9900 |
| 10:102226647:TTGG:T | donor_loss | 0.9900 |
| 10:102226648:TGGTG:T | donor_loss | 0.9900 |
| 10:102226649:GGTG:G | donor_loss | 0.9900 |
| 10:102226650:G:A | donor_loss | 0.9900 |
| 10:102226651:T:G | donor_loss | 0.9900 |
| 10:102227616:T:TA | acceptor_gain | 0.9900 |
| 10:102227621:GCCAG:G | acceptor_loss | 0.9900 |
| 10:102227622:CCA:C | acceptor_loss | 0.9900 |
| 10:102227624:AG:A | acceptor_gain | 0.9900 |
| 10:102227625:G:GT | acceptor_loss | 0.9900 |
| 10:102227625:GG:G | acceptor_gain | 0.9900 |
| 10:102227673:T:TA | acceptor_gain | 0.9900 |
| 10:102227758:G:GG | donor_gain | 0.9900 |
| 10:102228413:TCA:T | acceptor_loss | 0.9900 |
| 10:102228414:CAG:C | acceptor_loss | 0.9900 |
| 10:102228416:G:GT | acceptor_loss | 0.9900 |
| 10:102228416:GTAT:G | acceptor_gain | 0.9900 |
AlphaMissense
1807 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:102229187:T:C | F250L | 0.997 |
| 10:102229189:T:A | F250L | 0.997 |
| 10:102229189:T:G | F250L | 0.997 |
| 10:102228881:C:G | H148D | 0.996 |
| 10:102228961:C:A | N174K | 0.996 |
| 10:102228961:C:G | N174K | 0.996 |
| 10:102228555:G:C | K124N | 0.994 |
| 10:102228555:G:T | K124N | 0.994 |
| 10:102228887:A:C | S150R | 0.994 |
| 10:102228889:C:A | S150R | 0.994 |
| 10:102228889:C:G | S150R | 0.994 |
| 10:102228828:A:C | D130A | 0.993 |
| 10:102228944:T:A | W169R | 0.993 |
| 10:102228944:T:C | W169R | 0.993 |
| 10:102227756:A:C | S78R | 0.992 |
| 10:102228417:T:A | S78R | 0.992 |
| 10:102228417:T:G | S78R | 0.992 |
| 10:102228550:A:C | S123R | 0.992 |
| 10:102228552:C:A | S123R | 0.992 |
| 10:102228552:C:G | S123R | 0.992 |
| 10:102228828:A:T | D130V | 0.992 |
| 10:102228884:C:G | H149D | 0.992 |
| 10:102228831:C:T | T131I | 0.991 |
| 10:102228886:C:A | H149Q | 0.991 |
| 10:102228886:C:G | H149Q | 0.991 |
| 10:102228827:G:C | D130H | 0.990 |
| 10:102228529:T:A | W116R | 0.989 |
| 10:102228529:T:C | W116R | 0.989 |
| 10:102228828:A:G | D130G | 0.989 |
| 10:102228878:T:G | Y147D | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000237780 (10:102225940 G>C,T), RS1001237297 (10:102224638 C>T), RS1001335132 (10:102226167 A>G), RS1002125245 (10:102223420 A>G), RS1002234427 (10:102226739 C>T), RS1003132174 (10:102228140 C>G,T), RS1004075703 (10:102223510 A>G), RS1005140000 (10:102228813 T>C), RS1005654010 (10:102225086 C>T), RS1005773081 (10:102224721 G>C), RS1006142399 (10:102227140 C>T), RS1006527861 (10:102222935 A>C), RS1007147284 (10:102225410 T>C), RS1007414787 (10:102223889 C>T), RS1008559961 (10:102224179 G>A,C)
Disease associations
OMIM: gene MIM:611815 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005141_71 | Cognitive ability (MTAG) | 3.000000e-13 |
| GCST005142_30 | Cognitive ability | 3.000000e-06 |
| GCST005316_72 | Intelligence (MTAG) | 6.000000e-19 |
| GCST005956_50 | Waist-to-hip ratio adjusted for BMI | 8.000000e-06 |
| GCST005958_15 | Waist-to-hip ratio adjusted for BMI (age >50) | 4.000000e-06 |
| GCST005962_36 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 6.000000e-07 |
| GCST006269_517 | General cognitive ability | 8.000000e-15 |
| GCST010002_298 | Refractive error | 3.000000e-22 |
| GCST011703_47 | Smoking initiation | 2.000000e-10 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004337 | intelligence |
| EFO:0004784 | self reported educational attainment |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0005670 | smoking initiation |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5791 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
9 potent at pChembl≥5 of 9 total, top 9 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.23 | IC50 | 59 | nM | CHEMBL493642 |
| 6.89 | IC50 | 130 | nM | CHEMBL570571 |
| 6.66 | IC50 | 221 | nM | CHEMBL490750 |
| 6.47 | IC50 | 337 | nM | CHEMBL449121 |
| 6.43 | IC50 | 375 | nM | CHEMBL490110 |
| 6.30 | IC50 | 503 | nM | CHEMBL491944 |
| 5.96 | IC50 | 1100 | nM | CHEMBL491949 |
| 5.82 | IC50 | 1510 | nM | CHEMBL574934 |
| 5.16 | IC50 | 6940 | nM | CHEMBL2308139 |
PubChem BioAssay actives
9 with measured affinity, of 10 total; 9 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 6,6-dimethyl-3-[5-methyl-3-oxo-2-(4-propan-2-ylphenyl)-1H-pyrazol-4-yl]-1-phenyl-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione | 350116: Inhibition of human ELOVL3 expressed in african green monkey COS7 cells assessed as stearoyl-CoA elongation | ic50 | 0.0590 | uM |
| 4-fluoro-N-[[(4S)-2-oxo-6-(1H-pyrazol-5-yl)-4-(trifluoromethyl)-1H-3,1-benzoxazin-4-yl]methyl]benzamide | 441682: Inhibition of human ELOVL3 | ic50 | 0.1300 | uM |
| 3-[2-(4-chlorophenyl)-5-methyl-3-oxo-1H-pyrazol-4-yl]-6,6-dimethyl-1-phenyl-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione | 350116: Inhibition of human ELOVL3 expressed in african green monkey COS7 cells assessed as stearoyl-CoA elongation | ic50 | 0.2210 | uM |
| 6,6-dimethyl-3-[5-methyl-3-oxo-2-[4-(trifluoromethoxy)phenyl]-1H-pyrazol-4-yl]-1-phenyl-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione | 350116: Inhibition of human ELOVL3 expressed in african green monkey COS7 cells assessed as stearoyl-CoA elongation | ic50 | 0.3370 | uM |
| 6,6-dimethyl-3-[5-methyl-2-(4-methylphenyl)-3-oxo-1H-pyrazol-4-yl]-1-phenyl-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione | 350116: Inhibition of human ELOVL3 expressed in african green monkey COS7 cells assessed as stearoyl-CoA elongation | ic50 | 0.3750 | uM |
| 3-[2-(4-methoxyphenyl)-5-methyl-3-oxo-1H-pyrazol-4-yl]-6,6-dimethyl-1-phenyl-3-(trifluoromethyl)-5,7-dihydroindole-2,4-dione | 350116: Inhibition of human ELOVL3 expressed in african green monkey COS7 cells assessed as stearoyl-CoA elongation | ic50 | 0.5030 | uM |
| 4-[4-[6,6-dimethyl-2,4-dioxo-1-phenyl-3-(trifluoromethyl)-5,7-dihydroindol-3-yl]-5-methyl-3-oxo-1H-pyrazol-2-yl]benzonitrile | 350116: Inhibition of human ELOVL3 expressed in african green monkey COS7 cells assessed as stearoyl-CoA elongation | ic50 | 1.1000 | uM |
| 2-(1-methylimidazol-4-yl)sulfonyl-N-(4-propan-2-yloxyphenyl)-2-azabicyclo[2.2.2]octane-6-carboxamide | 437051: Inhibition of C-terminal V5-epitope-tagged human ELOVL3 expressed in african green monkey COS7 cells | ic50 | 1.5100 | uM |
| (1R,5S)-3-pyridin-2-ylsulfonyl-N-[4-(trifluoromethyl)phenyl]-8-azabicyclo[3.2.1]octane-8-carboxamide | 420896: Inhibition of human ELOVL3 expressed in Pichia pastoris SND1168 | ic50 | 6.9400 | uM |
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases methylation, affects methylation, increases expression | 3 |
| Valproic Acid | increases expression | 3 |
| aristolochic acid I | increases expression | 1 |
| methylmercuric chloride | increases expression, decreases response to substance | 1 |
| propionaldehyde | increases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | decreases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| linalool | decreases expression | 1 |
| pentanal | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| quinocetone | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Aldehydes | increases expression | 1 |
| Camptothecin | increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Endosulfan | decreases expression | 1 |
| Mercuric Chloride | decreases response to substance, increases expression | 1 |
| Nickel | decreases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Quercetin | increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
ChEMBL screening assays
4 unique, capped per target: 4 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1007917 | Binding | Inhibition of human ELOVL3 expressed in african green monkey COS7 cells assessed as stearoyl-CoA elongation | Synthesis and evaluation of a novel indoledione class of long chain fatty acid elongase 6 (ELOVL6) inhibitors. — J Med Chem |
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.