CYP4X1

Summary

CYP4X1 (cytochrome P450 family 4 subfamily X member 1, HGNC:20244) is a protein-coding gene on chromosome 1p33, encoding Cytochrome P450 4X1 (Q8N118). A cytochrome P450 monooxygenase that selectively catalyzes the epoxidation of the last double bond of the arachidonoyl moiety of anandamide, potentially modulating endocannabinoid signaling.

This gene encodes a member of the cytochrome P450 superfamily of enzymes and is located within a cluster of genes belonging to this superfamily on chromosome 1. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 260293 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 83 total
• Druggable target: yes
• MANE Select transcript: NM_178033

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20244
Approved symbol	CYP4X1
Name	cytochrome P450 family 4 subfamily X member 1
Location	1p33
Locus type	gene with protein product
Status	Approved
Aliases	MGC40051
Ensembl gene	ENSG00000186377
Ensembl biotype	protein_coding
OMIM	614999
Entrez	260293

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000371901, ENST00000466294, ENST00000859098, ENST00000963228

RefSeq mRNA: 3 — MANE Select: NM_178033 NM_001320289, NM_001320290, NM_178033

CCDS: CCDS544

Canonical transcript exons

ENST00000371901 — 12 exons

Exon	Start	End
ENSE00001332660	47049422	47049504
ENSE00001332661	47048565	47048629
ENSE00001332663	47046467	47046600
ENSE00001332665	47039342	47039532
ENSE00001332673	47036017	47036171
ENSE00001332675	47035806	47035933
ENSE00001332678	47033241	47033368
ENSE00001332679	47031436	47031480
ENSE00001332681	47029990	47030131
ENSE00001456409	47050000	47050751
ENSE00001456413	47023669	47023994
ENSE00003627059	47038660	47038766

Expression profiles

Bgee: expression breadth ubiquitous, 241 present calls, max score 99.01.

FANTOM5 (CAGE): breadth broad, TPM avg 2.2393 / max 131.2645, expressed in 495 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2760	1.5611	427
2758	0.3122	140
2759	0.1444	78
2762	0.0816	45
2757	0.0457	18
2756	0.0324	14
2766	0.0240	1
2764	0.0212	1
2763	0.0096	1
2765	0.0072	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
palpebral conjunctiva	UBERON:0001812	99.01	gold quality
trachea	UBERON:0003126	98.62	gold quality
bronchial epithelial cell	CL:0002328	97.99	gold quality
bronchus	UBERON:0002185	97.95	gold quality
nasal cavity epithelium	UBERON:0005384	95.44	gold quality
epithelium of nasopharynx	UBERON:0001951	93.63	gold quality
nasal cavity mucosa	UBERON:0001826	92.82	gold quality
Brodmann (1909) area 23	UBERON:0013554	92.59	gold quality
descending thoracic aorta	UBERON:0002345	91.72	gold quality
urethra	UBERON:0000057	91.65	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.58	gold quality
mucosa of paranasal sinus	UBERON:0005030	91.13	gold quality
endothelial cell	CL:0000115	90.84	gold quality
right coronary artery	UBERON:0001625	90.73	gold quality
minor salivary gland	UBERON:0001830	90.67	gold quality
thoracic aorta	UBERON:0001515	90.38	gold quality
cardiac muscle of right atrium	UBERON:0003379	90.37	gold quality
ascending aorta	UBERON:0001496	90.27	gold quality
trigeminal ganglion	UBERON:0001675	89.79	gold quality
esophagus squamous epithelium	UBERON:0006920	89.66	gold quality
aorta	UBERON:0000947	89.15	gold quality
mouth mucosa	UBERON:0003729	88.76	gold quality
germinal epithelium of ovary	UBERON:0001304	88.54	gold quality
saliva-secreting gland	UBERON:0001044	88.41	gold quality
popliteal artery	UBERON:0002250	88.24	gold quality
tibial artery	UBERON:0007610	88.24	gold quality
coronary artery	UBERON:0001621	88.00	gold quality
left coronary artery	UBERON:0001626	87.94	gold quality
parietal pleura	UBERON:0002400	87.88	gold quality
middle temporal gyrus	UBERON:0002771	87.48	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-114	yes	30.88
E-MTAB-9388	yes	11.11
E-ANND-3	yes	10.14

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): PPARA

miRNA regulators (miRDB)

30 targeting CYP4X1, 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-4425	100.00	67.59	1049
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-5580-3P	99.70	69.41	2052
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-6073	99.60	70.36	793
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-3616-5P	99.55	67.02	989
HSA-MIR-573	99.55	67.44	955
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-18A-5P	99.29	71.05	806
HSA-MIR-18B-5P	99.29	71.05	806
HSA-MIR-4735-3P	99.14	69.85	777
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-1537-5P	98.70	68.33	999
HSA-MIR-633	98.35	69.45	1167
HSA-MIR-4778-5P	97.96	68.06	1634
HSA-MIR-3127-5P	97.52	65.24	786
HSA-MIR-6730-3P	97.03	67.54	889

Literature-anchored findings (GeneRIF, showing 4)

• PPARalpha has a role in CYP4X1 regulation, and the glucocorticoid and progesterone receptors have roles in CYP4Z1 gene activation (PMID:15797250)
• Key residues were identified to be responsible for the binding of arachidonic acid and anandamide with orphan human cytochrome P450 4X1. (PMID:25595103)
• results indicate that the CYP4X1 gene modulates the onset of disease in patients with E200K genetic and sporadic Creutzfeldt-Jakob disease. (PMID:30032116)
• The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients. (PMID:30755683)

Cross-species orthologs

32 orthologs

Organism	Symbol	Gene ID
danio_rerio	cyp4t8	ENSDARG00000004964
danio_rerio	cyp4f3	ENSDARG00000053530
mus_musculus	Cyp4x1	ENSMUSG00000047155
rattus_norvegicus	Cyp4x1	ENSRNOG00000043513
drosophila_melanogaster	Cyp4d1	FBGN0005670
drosophila_melanogaster	Cyp4d2	FBGN0011576
drosophila_melanogaster	Cyp4e2	FBGN0014469
drosophila_melanogaster	Cyp4c3	FBGN0015032
drosophila_melanogaster	Cyp4d8	FBGN0015033
drosophila_melanogaster	Cyp4e1	FBGN0015034
drosophila_melanogaster	Cyp4e3	FBGN0015035
drosophila_melanogaster	Cyp4ae1	FBGN0015036
drosophila_melanogaster	Cyp4p1	FBGN0015037
drosophila_melanogaster	Cyp4d14	FBGN0023541
drosophila_melanogaster	Cyp4s3	FBGN0030615
drosophila_melanogaster	Cyp4ac1	FBGN0031693
drosophila_melanogaster	Cyp4ac2	FBGN0031694
drosophila_melanogaster	Cyp4ac3	FBGN0031695
drosophila_melanogaster	Cyp4d21	FBGN0031925
drosophila_melanogaster	Cyp4ad1	FBGN0033292
drosophila_melanogaster	Cyp4p2	FBGN0033395
drosophila_melanogaster	Cyp4p3	FBGN0033397
drosophila_melanogaster	Cyp4aa1	FBGN0034053
drosophila_melanogaster	Cyp4d20	FBGN0035344
drosophila_melanogaster	Cyp312a1	FBGN0036778
caenorhabditis_elegans		WBGENE00007140
caenorhabditis_elegans		WBGENE00009226
caenorhabditis_elegans		WBGENE00010354
caenorhabditis_elegans		WBGENE00013381
caenorhabditis_elegans		WBGENE00016147
caenorhabditis_elegans		WBGENE00021200
caenorhabditis_elegans		WBGENE00021412

Paralogs (12): CYP19A1 (ENSG00000137869), CYP4B1 (ENSG00000142973), CYP4V2 (ENSG00000145476), CYP4A22 (ENSG00000162365), CYP4F11 (ENSG00000171903), CYP4F22 (ENSG00000171954), CYP4F2 (ENSG00000186115), CYP4Z1 (ENSG00000186160), CYP4F12 (ENSG00000186204), CYP4F8 (ENSG00000186526), CYP4F3 (ENSG00000186529), CYP4A11 (ENSG00000187048)

Protein

Protein identifiers

Cytochrome P450 4X1 — Q8N118 (reviewed: Q8N118)

Alternative names: CYPIVX1

All UniProt accessions (1): Q8N118

UniProt curated annotations — full annotation on UniProt →

Function. A cytochrome P450 monooxygenase that selectively catalyzes the epoxidation of the last double bond of the arachidonoyl moiety of anandamide, potentially modulating endocannabinoid signaling. Has no hydroxylase activity toward various fatty acids, steroids and prostaglandins. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase).

Subcellular location. Endoplasmic reticulum membrane. Microsome membrane.

Tissue specificity. Expressed in brain, heart, kidney and skin and, at lower levels, in skeletal muscle and liver. In the brain, high levels are detected in amygdala and lower levels in globus pallidus and cerebellum. In the heart, very high levels in aorta, but very low levels in other heart regions. Also expressed in breast, prostate and colon.

Similarity. Belongs to the cytochrome P450 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8N118-1	1	yes
Q8N118-2	2
Q8N118-3	3

RefSeq proteins (3): NP_001307218, NP_001307219, NP_828847* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001128	Cyt_P450	Family
IPR002401	Cyt_P450_E_grp-I	Family
IPR017972	Cyt_P450_CS	Conserved_site
IPR036396	Cyt_P450_sf	Homologous_superfamily
IPR050196	Cytochrome_P450_Monoox	Family

Pfam: PF00067

Catalyzed reactions (Rhea), 1 shown:

• N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-ethanolamine + reduced [NADPH–hemoprotein reductase] + O2 = N-(14,15-epoxy-5Z,8Z,11Z-eicosatrienoyl)-ethanolamine + oxidized [NADPH–hemoprotein reductase] + H2O + H(+) (RHEA:53148)

UniProt features (6 total): splice variant 2, chain 1, transmembrane region 1, binding site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N118-F1	89.05	0.66

Functional residue map

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

Ligand- & substrate-binding residues (1): 454 (axial binding residue)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 76 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, GOBP_LIPID_METABOLIC_PROCESS, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, RICKMAN_HEAD_AND_NECK_CANCER_A, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, CHANG_IMMORTALIZED_BY_HPV31_UP, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_TETRAPYRROLE_BINDING, GOMF_IRON_ION_BINDING, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN_NAD_P_H_AS_ONE_DONOR_AND_INCORPORATION_OF_ONE_ATOM_OF_OXYGEN, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_WITH_LMP1_UP, MIKKELSEN_IPS_HCP_WITH_H3_UNMETHYLATED, GOMF_MONOOXYGENASE_ACTIVITY

GO Biological Process (1): lipid metabolic process (GO:0006629)

GO Molecular Function (7): iron ion binding (GO:0005506), heme binding (GO:0020037), anandamide 14,15 epoxidase activity (GO:0062189), monooxygenase activity (GO:0004497), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705), metal ion binding (GO:0046872)

GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
oxidoreductase activity	2
primary metabolic process	1
transition metal ion binding	1
tetrapyrrole binding	1
anandamide epoxidase activity	1
catalytic activity	1
cation binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1634 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CYP4X1	CYP2B6	P20813	507
CYP4X1	EPHX2	P34913	391
CYP4X1	CYB5RL	Q6IPT4	382
CYP4X1	CYB5R4	Q7L1T6	377
CYP4X1	CYB5R1	Q9UHQ9	375
CYP4X1	CYP7B1	O75881	374
CYP4X1	CYB5R2	Q6BCY4	374
CYP4X1	CYP8B1	Q9UNU6	371
CYP4X1	PPIG	Q13427	365
CYP4X1	CYB5R3	P00387	363
CYP4X1	FMO4	P31512	291
CYP4X1	CYP2S1	Q96SQ9	290
CYP4X1	FMO1	Q01740	290
CYP4X1	CYP2U1	Q7Z449	283
CYP4X1	CDK20	Q8IZL9	271

IntAct

18 interactions, top by confidence:

A	B	Type	Score
SLC30A2	ESYT2	psi-mi:“MI:0914”(association)	0.530
SLC6A8	ILVBL	psi-mi:“MI:0914”(association)	0.530
CYP4X1	PPFIA1	psi-mi:“MI:0915”(physical association)	0.400
SLC12A9	PGRMC1	psi-mi:“MI:0914”(association)	0.350
SLC18A3	ORC4	psi-mi:“MI:0914”(association)	0.350
SLC19A2	TMEM223	psi-mi:“MI:0914”(association)	0.350
SLC22A24	ADCY3	psi-mi:“MI:0914”(association)	0.350
SLC30A7	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A12	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A14	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A4	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A8	CEBPZOS	psi-mi:“MI:0914”(association)	0.350
SLC6A11	ILVBL	psi-mi:“MI:0914”(association)	0.350
SLC6A3	GET1	psi-mi:“MI:0914”(association)	0.350
SLC7A1	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC7A7	KLRG2	psi-mi:“MI:0914”(association)	0.350

BioGRID (20): PPFIA1 (Affinity Capture-MS), PPFIA1 (Affinity Capture-MS), CYP4X1 (Affinity Capture-MS), PPFIA1 (Affinity Capture-MS), CYP4X1 (Affinity Capture-MS), CYP4X1 (Affinity Capture-MS), CYP4X1 (Affinity Capture-MS), CYP4X1 (Affinity Capture-MS), CYP4X1 (Affinity Capture-MS), CYP4X1 (Affinity Capture-MS), CYP4X1 (Affinity Capture-MS), CYP4X1 (Affinity Capture-MS), CYP4X1 (Affinity Capture-MS), CYP4X1 (Affinity Capture-MS), CYP4X1 (Affinity Capture-MS)

ESM2 similar proteins: A2A974, F1Q8C3, H1A988, O18993, O35728, O88833, P00186, P04799, P08516, P08684, P13584, P14579, P14581, P15128, P15129, P20815, P20816, P20817, P24453, P24462, P24463, P24464, P33268, P33274, P51869, P51871, P78329, P79102, P79401, P98187, Q00557, Q08477, Q29496, Q3MID2, Q64391, Q64462, Q64464, Q6A152, Q6NT55, Q86W10

Diamond homologs: A0A067DE75, A0A067ELB0, A0A0B4L1W8, A0A0S2II38, A0A0U2U8U5, A0A140JWM8, A0A1I9Q5Z0, A0A3Q7HBJ5, A0A3Q7HS74, A0A7T9QPT0, A0AAW1JA93, A0AAW1NEA3, A2A974, A2RRT9, A2WLP4, A2Z212, A5BFI4, A9QNE7, B8QHP1, B8QHP5, F6H9N6, H2DH16, I7C6E8, I7CT85, K4CEE8, K4CI52, O09158, O35728, O43174, O44221, O46051, O55127, O70537, O81077, O81974, O88833, O93323, P08516, P0DXH8, P11707

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 25 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
R-HSA-425366	5	50.4×	3e-06
SLC-mediated transmembrane transport	5	16.4×	2e-04
Transport of small molecules	6	8.4×	8e-04

GO biological processes:

GO term	Partners	Fold	FDR
intracellular zinc ion homeostasis	5	109.4×	6e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	70
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1463 predictions. Top by Δscore:

Variant	Effect	Δscore
1:47023902:GCCAT:G	donor_gain	1.0000
1:47029988:A:AG	acceptor_gain	1.0000
1:47029989:G:GC	acceptor_gain	1.0000
1:47029989:GT:G	acceptor_gain	1.0000
1:47029989:GTTT:G	acceptor_gain	1.0000
1:47031421:T:A	acceptor_gain	1.0000
1:47033231:A:AG	acceptor_gain	1.0000
1:47033238:A:AG	acceptor_gain	1.0000
1:47033238:AAG:A	acceptor_gain	1.0000
1:47033239:A:G	acceptor_gain	1.0000
1:47033364:TGCTG:T	donor_gain	1.0000
1:47033365:GCTG:G	donor_gain	1.0000
1:47033365:GCTGG:G	donor_gain	1.0000
1:47033368:GGTA:G	donor_loss	1.0000
1:47033369:GT:G	donor_loss	1.0000
1:47033370:T:TC	donor_loss	1.0000
1:47033371:AA:A	donor_loss	1.0000
1:47035931:CAGGT:C	donor_loss	1.0000
1:47035932:AGGTC:A	donor_loss	1.0000
1:47035933:GGTC:G	donor_loss	1.0000
1:47035934:GTC:G	donor_loss	1.0000
1:47035935:T:A	donor_loss	1.0000
1:47038654:A:AG	acceptor_gain	1.0000
1:47038655:C:G	acceptor_gain	1.0000
1:47038655:CCCA:C	acceptor_loss	1.0000
1:47038658:A:AG	acceptor_gain	1.0000
1:47038658:A:AT	acceptor_loss	1.0000
1:47038659:G:GA	acceptor_gain	1.0000
1:47038659:GA:G	acceptor_gain	1.0000
1:47038659:GAT:G	acceptor_gain	1.0000

AlphaMissense

3381 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:47049440:T:C	F431L	0.989
1:47049442:C:A	F431L	0.989
1:47049442:C:G	F431L	0.989
1:47035812:T:A	W167R	0.971
1:47035812:T:C	W167R	0.971
1:47049425:T:C	F426L	0.971
1:47049427:T:A	F426L	0.971
1:47049427:T:G	F426L	0.971
1:47036108:T:C	F238L	0.970
1:47036110:C:A	F238L	0.970
1:47036110:C:G	F238L	0.970
1:47033306:T:C	F144L	0.969
1:47033308:C:A	F144L	0.969
1:47033308:C:G	F144L	0.969
1:47046511:A:T	E373V	0.968
1:47049488:T:C	F447L	0.966
1:47049490:C:A	F447L	0.966
1:47049490:C:G	F447L	0.966
1:47048615:T:A	W420R	0.964
1:47048615:T:C	W420R	0.964
1:47039476:A:C	Q339H	0.958
1:47039476:A:T	Q339H	0.958
1:47046520:G:C	R376P	0.958
1:47039487:G:C	R343P	0.957
1:47048617:G:C	W420C	0.956
1:47048617:G:T	W420C	0.956
1:47050067:T:C	F475L	0.955
1:47050069:C:A	F475L	0.955
1:47050069:C:G	F475L	0.955
1:47033286:G:C	R137P	0.954

dbSNP variants (sampled 300 via entrez): RS1000020617 (1:46973586 A>G), RS1000029265 (1:47020842 G>A), RS1000041905 (1:47008791 C>T), RS1000073847 (1:47016734 G>A), RS1000110607 (1:46966388 G>C,T), RS1000221666 (1:47014169 ATAG>A), RS1000224088 (1:47000222 A>G), RS1000256091 (1:46979305 T>C), RS1000300858 (1:46967536 G>A), RS1000378744 (1:46979103 G>A), RS1000410521 (1:47054200 G>T), RS1000426557 (1:47016528 A>G), RS1000433631 (1:46984928 C>G,T), RS1000480432 (1:47030576 T>C), RS1000524072 (1:46985057 T>C)

Disease associations

OMIM: gene MIM:614999 | 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: yes

ChEMBL targets (1): CHEMBL6048 (SINGLE PROTEIN)

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs17102977	CYP4X1		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — CYP4 family

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases methylation	8
Benzo(a)pyrene	decreases expression, decreases methylation, increases methylation	4
entinostat	increases expression, affects cotreatment	2
Air Pollutants	decreases expression, increases abundance	2
Estradiol	affects cotreatment, decreases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
Aflatoxin B1	affects expression, decreases expression	2
Particulate Matter	affects cotreatment, decreases expression, increases abundance	2
methyleugenol	decreases expression	1
pirinixic acid	increases expression	1
lead acetate	decreases expression	1
trichostatin A	increases expression	1
arsenite	increases expression	1
sodium arsenite	decreases expression	1
cupric chloride	decreases expression	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, increases expression	1
eprenetapopt	affects expression, affects reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Ethanol	affects cotreatment, decreases expression, increases abundance	1
Calcitriol	decreases expression	1
Carbamazepine	affects expression	1
Copper	affects cotreatment, decreases expression	1
Cytarabine	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diazinon	decreases methylation	1

ChEMBL screening assays

1 unique, capped per target: 1 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1035291	ADMET	Inhibition of CYP4A4	Discovery of a peroxisome proliferator activated receptor gamma (PPARgamma) modulator with balanced PPARalpha activity for the treatment of type 2 diabetes and dyslipidemia. — J Med Chem

Clinical trials (associated diseases)

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