ELOVL1

Summary

ELOVL1 (ELOVL fatty acid elongase 1, HGNC:14418) is a protein-coding gene on chromosome 1p34.2, encoding Very long chain fatty acid elongase 1 (Q9BW60). Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle.

Enables fatty acid elongase activity. Involved in fatty acid biosynthetic process and sphingolipid biosynthetic process. Located in endoplasmic reticulum.

Source: NCBI Gene 64834 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features (Strong, GenCC)
• GWAS associations: 8
• Clinical variants (ClinVar): 79 total — 1 pathogenic
• Phenotypes (HPO): 28
• Druggable target: yes
• MANE Select transcript: NM_022821

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14418
Approved symbol	ELOVL1
Name	ELOVL fatty acid elongase 1
Location	1p34.2
Locus type	gene with protein product
Status	Approved
Aliases	Ssc1
Ensembl gene	ENSG00000066322
Ensembl biotype	protein_coding
OMIM	611813
Entrez	64834

Gene structure

Transcript identifiers

Ensembl transcripts: 48 — 35 protein_coding, 13 protein_coding_CDS_not_defined

ENST00000372458, ENST00000413844, ENST00000464204, ENST00000465321, ENST00000468865, ENST00000470769, ENST00000470968, ENST00000478481, ENST00000479439, ENST00000479686, ENST00000482302, ENST00000487209, ENST00000496932, ENST00000497050, ENST00000497569, ENST00000621943, ENST00000855975, ENST00000855976, ENST00000855977, ENST00000855978, ENST00000855979, ENST00000855980, ENST00000855981, ENST00000855982, ENST00000855983, ENST00000855984, ENST00000855985, ENST00000855986, ENST00000855987, ENST00000855988, ENST00000855989, ENST00000855990, ENST00000855991, ENST00000855992, ENST00000912511, ENST00000912512, ENST00000912513, ENST00000912514, ENST00000912515, ENST00000912516, ENST00000912517, ENST00000912518, ENST00000968825, ENST00000968826, ENST00000968827, ENST00000968828, ENST00000968829, ENST00000968830

RefSeq mRNA: 4 — MANE Select: NM_022821 NM_001256399, NM_001256401, NM_001256402, NM_022821

CCDS: CCDS485, CCDS57987

Canonical transcript exons

ENST00000372458 — 8 exons

Exon	Start	End
ENSE00001861658	43367915	43368011
ENSE00001890435	43363401	43364137
ENSE00003496970	43364738	43364794
ENSE00003499131	43364928	43365008
ENSE00003520353	43364542	43364647
ENSE00003536789	43365564	43365623
ENSE00003554824	43364324	43364460
ENSE00003636673	43365186	43365376

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 61.9714 / max 786.4119, expressed in 1825 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12039	55.2780	1825
12038	2.4434	1164
12035	2.1896	895
12034	0.9941	316
12037	0.5911	381
12036	0.3656	192
12033	0.1096	54

Top tissues by expression

134 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	99.20	gold quality
lower esophagus mucosa	UBERON:0035834	99.10	gold quality
skin of abdomen	UBERON:0001416	98.88	gold quality
zone of skin	UBERON:0000014	98.81	gold quality
skin of leg	UBERON:0001511	98.77	gold quality
esophagus mucosa	UBERON:0002469	98.69	gold quality
corpus callosum	UBERON:0002336	98.42	gold quality
mucosa of transverse colon	UBERON:0004991	98.11	gold quality
right lobe of thyroid gland	UBERON:0001119	97.56	gold quality
esophagus	UBERON:0001043	97.55	gold quality
islet of Langerhans	UBERON:0000006	97.46	gold quality
granulocyte	CL:0000094	97.44	gold quality
vagina	UBERON:0000996	97.34	gold quality
substantia nigra	UBERON:0002038	97.32	gold quality
rectum	UBERON:0001052	97.29	gold quality
left lobe of thyroid gland	UBERON:0001120	97.26	gold quality
subcutaneous adipose tissue	UBERON:0002190	97.22	gold quality
body of stomach	UBERON:0001161	97.08	gold quality
tibial nerve	UBERON:0001323	97.02	gold quality
minor salivary gland	UBERON:0001830	97.00	gold quality
metanephros cortex	UBERON:0010533	96.99	gold quality
transverse colon	UBERON:0001157	96.97	gold quality
thyroid gland	UBERON:0002046	96.95	gold quality
saliva-secreting gland	UBERON:0001044	96.90	gold quality
adipose tissue	UBERON:0001013	96.86	gold quality
mucosa of stomach	UBERON:0001199	96.83	gold quality
duodenum	UBERON:0002114	96.68	gold quality
upper lobe of left lung	UBERON:0008952	96.68	gold quality
vermiform appendix	UBERON:0001154	96.62	gold quality
right lung	UBERON:0002167	96.61	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	17.79
E-GEOD-84465	yes	9.90
E-HCAD-13	yes	7.26
E-MTAB-7606	no	1444.79

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NR1H3, PPARA

miRNA regulators (miRDB)

47 targeting ELOVL1, 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-10401-5P	99.99	65.79	948
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-18A-3P	99.56	65.68	1092
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-5190	99.15	67.76	1234
HSA-MIR-6768-3P	99.14	67.38	1319
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-5587-5P	99.07	68.58	838
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-625-5P	99.02	68.64	2031
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-12114	98.70	63.45	730
HSA-MIR-6838-3P	98.40	65.88	559

Literature-anchored findings (GeneRIF, showing 7)

• The authors identify ELOVL1 (elongation of very-long-chain-fatty acids) as the single elongase catalysing the synthesis of both saturated VLCFA (C26:0) and mono-unsaturated VLCFA (C26:1). (PMID:20166112)
• ELOVL1 activity is regulated with the ceramide synthase CERS2, an enzyme essential for C24 sphingolipid synthesis. (PMID:20937905)
• down-regulation of ELOVL1 had a comprehensive effect on the synthesis of very long chain ceramides which possibly point to a requirement for ELOVL1 expression for full CerS2-activity. (PMID:23538298)
• Results suggest that inhibition of atty acid elongase 1 (ELOVL1) may be an underlying mechanism by which Lorenzo’s oil exerts its action. (PMID:24489110)
• ELOV1 promotes very long-chain fatty acid accumulation X-linked adrenoleukodystrophy and is inhibited by CoA esters of bezafibrate and gemfibrozil. (PMID:25499606)
• he ELOVL1 p.Ser165Phe mutation is a likely cause of ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) and dysmorphic features (IKSHD). (PMID:29496980)
• A dominant ELOVL1 mutation causes a neuro-ichthyotic disorder possibly amenable to treatment with PPAR-modulating drugs. (PMID:30487246)

Cross-species orthologs

20 orthologs

Organism	Symbol	Gene ID
danio_rerio	elovl1a	ENSDARG00000099960
danio_rerio	elovl1b	ENSDARG00000103735
mus_musculus	Elovl1	ENSMUSG00000006390
rattus_norvegicus	Elovl1	ENSRNOG00000028448
drosophila_melanogaster	CG18609	FBGN0034382
drosophila_melanogaster	CG17821	FBGN0034383
drosophila_melanogaster	Elovl7	FBGN0037534
drosophila_melanogaster	CG8534	FBGN0037761
drosophila_melanogaster	eloF	FBGN0037762
drosophila_melanogaster	CG16904	FBGN0037763
drosophila_melanogaster	CG9459	FBGN0037764
drosophila_melanogaster	CG9458	FBGN0037765
drosophila_melanogaster	CG5326	FBGN0038983
drosophila_melanogaster	sit	FBGN0038986
drosophila_melanogaster	CG30008	FBGN0050008
drosophila_melanogaster	CG31141	FBGN0051141
drosophila_melanogaster	CG31522	FBGN0051522
drosophila_melanogaster	CG31523	FBGN0051523
drosophila_melanogaster	CG33110	FBGN0053110
drosophila_melanogaster	bond	FBGN0260942

Paralogs (6): ELOVL5 (ENSG00000012660), ELOVL4 (ENSG00000118402), ELOVL3 (ENSG00000119915), ELOVL7 (ENSG00000164181), ELOVL6 (ENSG00000170522), ELOVL2 (ENSG00000197977)

Protein

Protein identifiers

Very long chain fatty acid elongase 1 — Q9BW60 (reviewed: Q9BW60)

Alternative names: 3-keto acyl-CoA synthase ELOVL1, ELOVL fatty acid elongase 1, Elongation of very long chain fatty acids protein 1, Very long chain 3-ketoacyl-CoA synthase 1, Very long chain 3-oxoacyl-CoA synthase 1

All UniProt accessions (1): Q9BW60

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 monounsaturated acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate in the production of both saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. Important for saturated C24:0 and monounsaturated C24:1 sphingolipid synthesis. Indirectly inhibits RPE65 via production of VLCFAs.

Subunit / interactions. Interacts with LASS2 and HSD17B12. Interacts with TECR.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Ubiquitous.

Disease relevance. Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies (IKSHD) [MIM:618527] An autosomal dominant disease characterized by ichthyosis due to epidermal hyperproliferation and increased keratinisation, hypomyelination of the central white matter, spastic paraplegia, central nystagmus, optic atrophy, reduction of peripheral vision and visual acuity, and dysmorphic facial features. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The C-terminal di-lysine motif may confer endoplasmic reticulum localization.

Pathway. Lipid metabolism; fatty acid biosynthesis.

Similarity. Belongs to the ELO family. ELOVL1 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BW60-1	1	yes
Q9BW60-2	2

RefSeq proteins (4): NP_001243328, NP_001243330, NP_001243331, NP_073732* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002076	ELO_fam	Family
IPR030457	ELO_CS	Conserved_site
IPR033681	ELOVL1	Family

Pfam: PF01151

Catalyzed reactions (Rhea), 8 shown:

• a very-long-chain acyl-CoA + malonyl-CoA + H(+) = a very-long-chain 3-oxoacyl-CoA + CO2 + CoA (RHEA:32727)
• octadecanoyl-CoA + malonyl-CoA + H(+) = 3-oxoeicosanoyl-CoA + CO2 + CoA (RHEA:35319)
• eicosanoyl-CoA + malonyl-CoA + H(+) = 3-oxodocosanoyl-CoA + CO2 + CoA (RHEA:35327)
• docosanoyl-CoA + malonyl-CoA + H(+) = 3-oxotetracosanoyl-CoA + CO2 + CoA (RHEA:36507)
• tetracosanoyl-CoA + malonyl-CoA + H(+) = 3-oxohexacosanoyl-CoA + CO2 + CoA (RHEA:36515)
• hexacosanoyl-CoA + malonyl-CoA + H(+) = 3-oxooctacosanyol-CoA + CO2 + CoA (RHEA:36519)
• (11Z)-eicosenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(13Z)-docosenoyl-CoA + CO2 + CoA (RHEA:36527)
• (13Z)-docosenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(15Z)-tetracosenoyl-CoA + CO2 + CoA (RHEA:36531)

UniProt features (15 total): transmembrane region 7, sequence conflict 3, chain 1, splice variant 1, sequence variant 1, short sequence motif 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BW60-F1	90.46	0.77

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 1

Function

Pathways and Gene Ontology

Reactome pathways

3 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

MSigDB gene sets: 282 (showing top): REACTOME_SYNTHESIS_OF_VERY_LONG_CHAIN_FATTY_ACYL_COAS, GOBP_EPITHELIUM_DEVELOPMENT, SHEPARD_CRASH_AND_BURN_MUTANT_UP, 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, GOBP_CERAMIDE_BIOSYNTHETIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_FATTY_ACYL_COA_METABOLIC_PROCESS, GOBP_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS, GOBP_SPHINGOLIPID_METABOLIC_PROCESS

GO Biological Process (15): 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), ceramide biosynthetic process (GO:0046513), establishment of skin barrier (GO:0061436), 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-2 pathways:

Category	Pathways
alpha-linolenic (omega3) and linoleic (omega6) acid metabolism	2
Fatty acyl-CoA biosynthesis	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
ceramide metabolic process	1
sphingolipid biosynthetic process	1
skin epidermis development	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

1124 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ELOVL1	CERS2	Q96G23	728
ELOVL1	AWAT1	Q58HT5	718
ELOVL1	DGAT2	Q96PD7	688
ELOVL1	ABCD1	P33897	667
ELOVL1	CERS3	Q8IU89	646
ELOVL1	SCD	O00767	636
ELOVL1	FADS2	O95864	611
ELOVL1	HSD17B12	Q53GQ0	605
ELOVL1	FADS1	O60427	583
ELOVL1	ACOX1	Q15067	561
ELOVL1	FEN1	P39748	554
ELOVL1	SCD5	Q86SK9	547
ELOVL1	FASN	P49327	544
ELOVL1	ABCD2	Q9UBJ2	532
ELOVL1	ACACA	Q13085	498

IntAct

44 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
ELOVL1	GLP1R	psi-mi:“MI:0915”(physical association)	0.540
GLP1R	ELOVL1	psi-mi:“MI:0915”(physical association)	0.540
GLP1R	ELOVL1	psi-mi:“MI:0403”(colocalization)	0.540
SDC1	ILVBL	psi-mi:“MI:0915”(physical association)	0.400
Tubg1	BDP1	psi-mi:“MI:0914”(association)	0.350
Smn1	CLNS1A	psi-mi:“MI:0914”(association)	0.350
	TSPO	psi-mi:“MI:0914”(association)	0.350
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
POMK	ESYT2	psi-mi:“MI:0914”(association)	0.350
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
ELOVL1	LDHA	psi-mi:“MI:0914”(association)	0.350
SLC1A1	UBXN8	psi-mi:“MI:0914”(association)	0.350
ATP2A3	UBXN8	psi-mi:“MI:0914”(association)	0.350
ZC3HC1	SULT2B1	psi-mi:“MI:0914”(association)	0.350
VIPR2	EI24	psi-mi:“MI:0914”(association)	0.350
HTR1B	SCAMP2	psi-mi:“MI:0914”(association)	0.350
ELOVL1	RAB5A	psi-mi:“MI:0914”(association)	0.350
SLC11A2	UBXN8	psi-mi:“MI:0914”(association)	0.350
SLC7A1	ESYT2	psi-mi:“MI:0914”(association)	0.350
TECR	HSD17B12	psi-mi:“MI:0914”(association)	0.350
CTNNA1	KIF2A	psi-mi:“MI:0914”(association)	0.350
ATF2	ABLIM1	psi-mi:“MI:0914”(association)	0.350
CEBPA	SAP18	psi-mi:“MI:0914”(association)	0.350

BioGRID (78): ELOVL1 (Affinity Capture-RNA), ELOVL1 (Affinity Capture-RNA), ELOVL1 (Proximity Label-MS), ELOVL1 (Affinity Capture-MS), ELOVL1 (Affinity Capture-MS), PSMD10 (Affinity Capture-MS), TWF2 (Affinity Capture-MS), ELOVL1 (Affinity Capture-MS), ELOVL1 (Affinity Capture-MS), ELOVL1 (Affinity Capture-RNA), ELOVL1 (Affinity Capture-MS), ELOVL1 (Proximity Label-MS), ELOVL1 (Proximity Label-MS), ELOVL1 (Proximity Label-MS), ELOVL1 (Proximity Label-MS)

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: A0A0C5PHQ7, A0JNC4, A1L3X0, B4QVX4, D4A612, D4ADY9, O35949, P25358, Q1HRV8, Q2KJD9, Q32NI8, Q3S8M4, Q4D321, Q4D5J7, Q4Q5G6, Q4QJ85, Q4R516, Q57X51, Q5M8U1, Q5RFL5, Q8BHI7, Q920L7, Q95K73, Q9BW60, Q9D2Y9, Q9EQC4, Q9GZR5, Q9JLJ4, Q9JLJ5, Q9NXB9, Q9NYP7, Q9VH58, Q9VHX7, P40319, P49191, Q03574, Q54TC9, Q57UP8, Q5ZJR8, Q7LKX0

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
ELOVL1	“down-regulates quantity”	palmitoyl-CoA	“chemical modification”
ELOVL1	“up-regulates quantity”	3-hydroxyoctadecanoyl-CoA	“chemical modification”

Disease & clinical

Clinical variants and AI predictions

ClinVar

79 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	35
Likely benign	27
Benign	5

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1686880	NM_022821.4(ELOVL1):c.376-2A>G	Pathogenic

SpliceAI

1026 predictions. Top by Δscore:

Variant	Effect	Δscore
1:43364323:CCAG:C	donor_gain	1.0000
1:43364460:CCTG:C	acceptor_loss	1.0000
1:43364461:C:CA	acceptor_loss	1.0000
1:43364462:T:C	acceptor_loss	1.0000
1:43364564:C:CT	donor_gain	1.0000
1:43364646:ACCTG:A	acceptor_loss	1.0000
1:43364648:CTG:C	acceptor_loss	1.0000
1:43364649:T:A	acceptor_loss	1.0000
1:43364736:A:AC	donor_gain	1.0000
1:43364737:C:CC	donor_gain	1.0000
1:43365009:C:CC	acceptor_gain	1.0000
1:43365287:C:CT	acceptor_gain	1.0000
1:43365287:C:T	acceptor_gain	1.0000
1:43365288:A:T	acceptor_gain	1.0000
1:43365309:G:C	acceptor_gain	1.0000
1:43365558:TCTTA:T	donor_loss	1.0000
1:43365559:CTTAC:C	donor_loss	1.0000
1:43365561:TACCT:T	donor_loss	1.0000
1:43365562:ACC:A	donor_loss	1.0000
1:43365563:C:CA	donor_loss	1.0000
1:43365619:GGACT:G	acceptor_gain	1.0000
1:43365622:CT:C	acceptor_gain	1.0000
1:43365622:CTCTG:C	acceptor_loss	1.0000
1:43365623:TC:T	acceptor_loss	1.0000
1:43365624:C:CC	acceptor_gain	1.0000
1:43365624:CT:C	acceptor_loss	1.0000
1:43365625:T:A	acceptor_loss	1.0000
1:43364137:TCTAG:T	acceptor_loss	0.9900
1:43364138:C:CC	acceptor_gain	0.9900
1:43364138:C:T	acceptor_loss	0.9900

AlphaMissense

1836 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:43364015:G:C	F247L	1.000
1:43364015:G:T	F247L	1.000
1:43364017:A:G	F247L	1.000
1:43364593:G:C	H144D	1.000
1:43364742:T:A	D124V	1.000
1:43364742:T:G	D124A	1.000
1:43364743:C:G	D124H	1.000
1:43364006:G:C	F250L	0.999
1:43364006:G:T	F250L	0.999
1:43364008:A:G	F250L	0.999
1:43364129:A:C	F209L	0.999
1:43364129:A:T	F209L	0.999
1:43364130:A:G	F209S	0.999
1:43364131:A:G	F209L	0.999
1:43364325:A:G	L206P	0.999
1:43364348:T:A	K198N	0.999
1:43364348:T:G	K198N	0.999
1:43364349:T:A	K198I	0.999
1:43364353:A:G	W197R	0.999
1:43364353:A:T	W197R	0.999
1:43364394:C:T	G183E	0.999
1:43364407:A:G	Y179H	0.999
1:43364408:C:A	M178I	0.999
1:43364408:C:G	M178I	0.999
1:43364408:C:T	M178I	0.999
1:43364417:A:C	H175Q	0.999
1:43364417:A:T	H175Q	0.999
1:43364418:T:C	H175R	0.999
1:43364419:G:C	H175D	0.999
1:43364419:G:T	H175N	0.999

dbSNP variants (sampled 300 via entrez): RS1000849032 (1:43367461 C>T), RS1000928572 (1:43363685 G>C), RS1001713724 (1:43368084 G>A), RS1002013283 (1:43369847 A>C), RS1002036851 (1:43364928 C>T), RS1002046112 (1:43369537 C>T), RS1002108476 (1:43363206 T>C), RS1003007566 (1:43366343 G>A), RS1004189336 (1:43364823 C>A,G,T), RS1004402910 (1:43363564 T>C), RS1005367402 (1:43363607 A>T), RS1005460454 (1:43363834 T>C), RS1005465921 (1:43368509 C>A,T), RS1005706303 (1:43369951 T>C), RS1006719024 (1:43364725 T>A)

Disease associations

OMIM: gene MIM:611813 | disease phenotypes: MIM:618527

GenCC curated gene-disease

Disease	Classification	Inheritance
ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features	Strong	Autosomal dominant

Mondo (2): ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features (MONDO:0032798), optic atrophy (MONDO:0003608)

Orphanet (0):

HPO phenotypes

28 total (28 of 28 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000011	Neurogenic bladder
HP:0000217	Xerostomia
HP:0000407	Sensorineural hearing impairment
HP:0000543	Optic disc pallor
HP:0000613	Photophobia
HP:0000639	Nystagmus
HP:0000956	Acanthosis nigricans
HP:0000958	Dry skin
HP:0000962	Hyperkeratosis
HP:0001036	Parakeratosis
HP:0001133	Constriction of peripheral visual field
HP:0001249	Intellectual disability
HP:0001251	Ataxia
HP:0001257	Spasticity
HP:0001258	Spastic paraplegia
HP:0001260	Dysarthria
HP:0001270	Motor delay
HP:0001310	Dysmetria
HP:0001337	Tremor
HP:0001348	Brisk reflexes
HP:0001583	Rotary nystagmus
HP:0003429	CNS hypomyelination
HP:0003487	Babinski sign
HP:0003593	Infantile onset
HP:0007663	Reduced visual acuity
HP:0008064	Ichthyosis
HP:0025092	Epidermal acanthosis

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST010696_6	Cortical thickness (min-P)	3.000000e-08
GCST010697_32	Cortical surface area (min-P)	4.000000e-08
GCST010698_63	Subcortical volume (min-P)	3.000000e-09
GCST010699_87	Brain morphology (min-P)	9.000000e-14
GCST010700_24	Cortical thickness (MOSTest)	1.000000e-10
GCST010701_5	Cortical surface area (MOSTest)	1.000000e-08
GCST010702_132	Subcortical volume (MOSTest)	8.000000e-15
GCST010703_201	Brain morphology (MOSTest)	1.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009896	Optic Atrophy	C10.292.700.225; C11.640.451

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6001 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

112 potent at pChembl≥5 of 116 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.52	IC50	0.3	nM	CHEMBL5090501
9.40	IC50	0.4	nM	CHEMBL5092963
9.22	IC50	0.6	nM	CHEMBL5075747
8.70	IC50	2	nM	CHEMBL5081977
8.52	IC50	3	nM	CHEMBL5093558
8.30	IC50	5	nM	CHEMBL5085396
8.30	IC50	5	nM	CHEMBL5081193
8.15	IC50	7	nM	CHEMBL5091893
8.15	IC50	7	nM	CHEMBL5079831
8.15	IC50	7	nM	CHEMBL5088572
8.05	IC50	9	nM	CHEMBL5091423
8.05	IC50	9	nM	CHEMBL5082929
8.05	IC50	9	nM	CHEMBL5081193
8.00	IC50	10	nM	CHEMBL5084780
7.96	IC50	11	nM	CHEMBL5081193
7.92	IC50	12	nM	CHEMBL5084384
7.92	IC50	12	nM	CHEMBL5169448
7.89	IC50	13	nM	CHEMBL5081193
7.82	IC50	15	nM	CHEMBL5084868
7.82	IC50	15	nM	CHEMBL5081193
7.77	IC50	17	nM	CHEMBL5185729
7.77	IC50	17	nM	CHEMBL5081193
7.75	IC50	18	nM	CHEMBL5203823
7.75	IC50	18	nM	CHEMBL5206398
7.70	IC50	20	nM	CHEMBL5204141
7.70	IC50	20	nM	CHEMBL5081193
7.66	IC50	22	nM	CHEMBL5172768
7.64	IC50	23	nM	CHEMBL5185644
7.52	IC50	30	nM	CHEMBL5205200
7.42	IC50	38	nM	CHEMBL5199478
7.37	IC50	43	nM	CHEMBL5081193
7.30	IC50	50	nM	CHEMBL5194186
7.22	IC50	60	nM	CHEMBL5080503
7.22	IC50	60	nM	CHEMBL5077819
7.22	IC50	60	nM	CHEMBL5190392
7.16	IC50	70	nM	CHEMBL5200554
7.10	IC50	80	nM	CHEMBL5088321
7.10	IC50	80	nM	CHEMBL5174762
7.00	IC50	100	nM	CHEMBL5204609
6.96	IC50	110	nM	CHEMBL5202816
6.96	IC50	110	nM	CHEMBL5192322
6.92	IC50	120	nM	CHEMBL5087669
6.85	IC50	140	nM	CHEMBL5094213
6.85	IC50	140	nM	CHEMBL5094005
6.85	IC50	140	nM	CHEMBL5182190
6.85	IC50	140	nM	CHEMBL5188173
6.77	IC50	170	nM	CHEMBL5200718
6.77	IC50	170	nM	CHEMBL5202203
6.72	IC50	190	nM	CHEMBL5190417
6.68	IC50	210	nM	CHEMBL5084617

PubChem BioAssay actives

111 with measured affinity, of 146 total; 50 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
4-[3-(3-fluoropyrazol-1-yl)cyclobutyl]-6-(3-pyrazol-1-ylcyclobutyl)oxypyrimidine	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.0003	uM
(2S)-2-phenyl-4-[6-(3-pyrazol-1-ylcyclobutyl)oxypyrimidin-4-yl]morpholine	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.0004	uM
4-[3-(4-fluoropyrazol-1-yl)cyclobutyl]-6-(3-pyrazol-1-ylcyclobutyl)oxypyrimidine	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.0006	uM
4-[3-(3-chloropyrazol-1-yl)cyclobutyl]-6-(3-pyrazol-1-ylcyclobutyl)oxypyrimidine	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.0020	uM
4-[6-[2-(4-fluorophenyl)ethoxy]pyrimidin-4-yl]-1,4-oxazepane	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.0030	uM
1-(2-fluorophenyl)-N-[1-(2-fluoro-4-pyridinyl)pyrazol-3-yl]cyclopropane-1-carboxamide	1877169: Inhibition of ELOVL1 in Het Female 1 patient-derived human lymphocyte assessed as reduction of C26:0 VLCFA synthesis incubated for 48 hrs by cellular assay	ic50	0.0050	uM
(2S)-4-[6-[3-(1,3-oxazol-2-yl)cyclobutyl]oxypyrimidin-4-yl]-2-phenylmorpholine	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.0050	uM
4-[6-[3-(5-methylpyrazol-1-yl)propoxy]pyrimidin-4-yl]-2-(trifluoromethyl)morpholine	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.0070	uM
4-[6-[3-(5-methylpyrazol-1-yl)propoxy]pyrimidin-4-yl]-2-phenylmorpholine	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.0070	uM
4-[3-(5-methylpyrazol-1-yl)propoxy]-6-piperidin-1-ylpyrimidine	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.0070	uM
(2S)-4-[6-[3-(1,3,4-oxadiazol-2-yl)cyclobutyl]oxypyrimidin-4-yl]-2-phenylmorpholine	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.0090	uM
(2S)-2-phenyl-4-[6-[3-(triazol-1-yl)cyclobutyl]oxypyrimidin-4-yl]morpholine	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.0090	uM
4-(3-pyrazol-1-ylcyclobutyl)-6-(3-pyrazol-1-ylcyclobutyl)oxypyrimidine	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.0100	uM
1-(2-fluorophenyl)-N-(1-phenylpyrazol-3-yl)cyclopropane-1-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.0120	uM
4-[6-[2-(4-fluorophenyl)ethoxy]pyrimidin-4-yl]morpholine	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.0120	uM
(2S)-2-phenyl-4-[6-(3-phenylcyclobutyl)oxypyrimidin-4-yl]morpholine	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.0150	uM
1-(2,6-difluorophenyl)-N-[1-(5-fluoro-3-pyridinyl)pyrazol-3-yl]cyclopropane-1-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.0170	uM
1-(2-fluorophenyl)-N-[1-(5-fluoro-3-pyridinyl)pyrazol-3-yl]cyclopropane-1-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.0180	uM
1-(2-fluorophenyl)-N-[1-(1,2,4-thiadiazol-5-yl)pyrazol-3-yl]cyclopropane-1-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.0180	uM
1-phenyl-N-(1-phenylpyrazol-3-yl)cyclopropane-1-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.0200	uM
N-[1-(5-fluoro-3-pyridinyl)pyrazol-3-yl]-1-phenylcyclopropane-1-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.0220	uM
1-(2-fluorophenyl)-N-[1-(6-fluoro-3-pyridinyl)pyrazol-3-yl]cyclopropane-1-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.0230	uM
1-(2-fluorophenyl)-N-(1-pyrimidin-4-ylpyrazol-3-yl)cyclopropane-1-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.0300	uM
(2S)-2-phenyl-N-(1-phenylpyrazol-3-yl)propanamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.0380	uM
1-(2-fluorophenyl)-N-[1-(2-methoxy-4-pyridinyl)pyrazol-3-yl]cyclopropane-1-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.0500	uM
2-(2-fluorophenyl)-N-(1-phenylpyrazol-3-yl)acetamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.0600	uM
6-[2-(4-fluorophenyl)ethoxy]-N-methyl-N-(oxolan-3-yl)pyrimidin-4-amine	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.0600	uM
6-[2-(4-fluorophenyl)ethoxy]-N,N-dimethylpyrimidin-4-amine	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.0600	uM
2-phenyl-N-(1-phenylpyrazol-3-yl)acetamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.0700	uM
1-(2-fluorophenyl)-N-(1-pyridin-4-ylpyrazol-3-yl)cyclopropane-1-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.0800	uM
4-[2-(4-fluorophenyl)ethoxy]-6-piperidin-1-ylpyrimidine	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.0800	uM
1-(4-fluorophenyl)-N-[1-(5-fluoro-3-pyridinyl)pyrazol-3-yl]cyclopropane-1-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.1000	uM
1-(4-cyanophenyl)-N-[1-(5-fluoro-3-pyridinyl)pyrazol-3-yl]cyclopropane-1-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.1100	uM
1-(2-chlorophenyl)-N-[1-(5-fluoro-3-pyridinyl)pyrazol-3-yl]cyclopropane-1-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.1100	uM
8-[6-[3-(5-methylpyrazol-1-yl)propoxy]pyrimidin-4-yl]-2,5-dioxa-8-azaspiro[3.5]nonane	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.1200	uM
2,2-difluoro-1-phenyl-N-(1-phenylpyrazol-3-yl)cyclopropane-1-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.1400	uM
4-[2-(5-methylpyrazol-1-yl)ethoxy]-6-piperidin-1-ylpyrimidine	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.1400	uM
2-(2-methylpyrazol-3-yl)-4-[6-[3-(5-methylpyrazol-1-yl)propoxy]pyrimidin-4-yl]morpholine	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.1400	uM
1-(2,3-difluorophenyl)-N-[1-(5-fluoro-3-pyridinyl)pyrazol-3-yl]cyclopropane-1-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.1400	uM
N-[1-(5-fluoro-3-pyridinyl)pyrazol-3-yl]-1-(3-methoxyphenyl)cyclopropane-1-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.1700	uM
1-(2,5-difluorophenyl)-N-[1-(5-fluoro-3-pyridinyl)pyrazol-3-yl]cyclopropane-1-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.1700	uM
1-(3-fluorophenyl)-N-[1-(5-fluoro-3-pyridinyl)pyrazol-3-yl]cyclopropane-1-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.1900	uM
(2R)-2-phenyl-N-(1-phenylpyrazol-3-yl)propanamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.2100	uM
1-[6-[2-(4-fluorophenyl)ethoxy]pyrimidin-4-yl]azepane	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.2300	uM
6-[6-[3-(5-methylpyrazol-1-yl)propoxy]pyrimidin-4-yl]-3-oxa-6-azabicyclo[3.1.1]heptane	1813718: Inhibition of ELOVL1 in HEK293 cells assessed as reduction of C26:0 lipo phosphatidyl choline synthesis	ic50	0.2300	uM
3-phenyl-N-(1-phenylpyrazol-3-yl)oxetane-3-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.2600	uM
2-(2-fluorophenyl)-N-(4-phenyl-1,3-thiazol-2-yl)acetamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.2800	uM
2-methyl-2-phenyl-N-(1-phenylpyrazol-3-yl)propanamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.3000	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148315: Binding affinity to human ELOVL1 incubated for 45 mins by Kinobead based pull down assay	kd	0.3096	uM
1-(3-cyanophenyl)-N-[1-(5-fluoro-3-pyridinyl)pyrazol-3-yl]cyclopropane-1-carboxamide	1877130: Inhibition of ELOVL1 in human HEK2936E cells assessed as reduction of C26:0 LPC synthesis incubated for 48 hrs by cellular assay	ic50	0.3100	uM

CTD chemical–gene interactions

56 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, increases methylation	5
sodium arsenite	decreases expression, increases expression, affects binding, increases reaction	3
Air Pollutants	affects cotreatment, increases abundance, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tetrachlorodibenzodioxin	increases expression	2
bufotalin	affects expression	1
alpha phellandrene	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, increases expression	1
sodium arsenate	increases abundance, decreases expression	1
terbufos	increases methylation	1
trichostatin A	increases expression	1
beta-lapachone	increases expression	1
2-bromopalmitate	increases palmitoylation, decreases reaction, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
cupric chloride	increases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
GW 4064	increases expression	1
GW 7647	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
obeticholic acid	increases expression	1
6-(4-chlorophenyl)imidazo(2,1-b)(1,3)thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime	increases expression	1
bisphenol B	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Acetaminophen	increases expression	1
Acrolein	increases abundance, affects cotreatment, increases expression	1

ChEMBL screening assays

22 unique, capped per target: 22 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1007918	Binding	Inhibition of human ELOVL1 expressed in african green monkey COS7 cells	Synthesis and evaluation of a novel indoledione class of long chain fatty acid elongase 6 (ELOVL6) inhibitors. — J Med Chem

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_SL92	HAP1 ELOVL1 (-) 1	Cancer cell line	Male
CVCL_XN40	HAP1 ELOVL1 (-) 2	Cancer cell line	Male
CVCL_XN41	HAP1 ELOVL1 (-) 3	Cancer cell line	Male
CVCL_XN42	HAP1 ELOVL1 (-) 4	Cancer cell line	Male

Clinical trials (associated diseases)

10 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT01064505	PHASE1	COMPLETED	Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients
NCT05147701	PHASE1	RECRUITING	Safety of Cultured Allogeneic Adult Umbilical Cord Derived Mesenchymal Stem Cells for NAION
NCT02882477	PHASE2/PHASE3	UNKNOWN	Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy
NCT01834079	PHASE1/PHASE2	UNKNOWN	Study the Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Optic Nerve Disease
NCT04680143	PHASE1/PHASE2	COMPLETED	Systemic Erythropoietin Injection in Patients Having Optic Atrophy
NCT03011541	Not specified	RECRUITING	Stem Cell Ophthalmology Treatment Study II
NCT04580979	Not specified	COMPLETED	Natural History Study of FDXR Mutation-related Mitochondriopathy
NCT04594590	Not specified	COMPLETED	Natural History Study of SLC25A46 Mutation-related Mitochondriopathy
NCT04723160	Not specified	COMPLETED	Computer Aided Diagnosis of Multiple Eye Fundus Diseases From Color Fundus Photograph
NCT06390579	Not specified	COMPLETED	Building Research With Artificial Intelligence in Neuro-Ophthalmology