CYP4F3 cytochrome P450 family 4 subfamily F member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP4F3provided by HGNC
Official Full Name: cytochrome P450 family 4 subfamily F member 3provided by HGNC
Primary source: HGNC:HGNC:2646
See related: Ensembl:ENSG00000186529 MIM:601270; AllianceGenome:HGNC:2646
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CPF3; CYP4F; LTB4H; CYPIVF3
Summary: This gene, CYP4F3, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F8, is approximately 18 kb away. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2019]
Expression: Biased expression in liver (RPKM 51.6), bone marrow (RPKM 29.9) and 6 other tissues See more
Orthologs: all
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Genomic context

Location:: 19p13.12

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (15640897..15662825)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (15766167..15788209)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (15751707..15773635)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

High n3:n6 polyunsaturated fatty acids (PUFA) intake was associated with a reduced risk of ulcerative colitis (UC) in individuals with the GG/AG genotype at a single nucleotide polymorphism in CYP4F3 but not those with the AA genotype. The association between dietary n3:n6 PUFA intake and risk of UC may be modified variants at CYP4F3.
Title: Genetic Polymorphisms in Fatty Acid Metabolism Modify the Association Between Dietary n3: n6 Intake and Risk of Ulcerative Colitis: A Prospective Cohort Study.
The results suggest that a potentially functional single-nucleotide polymorphisms in CYP4F3 (rs4646904) may contribute to the etiology of lung cancer, especially in smokers.
Title: Pathway-analysis of published genome-wide association studies of lung cancer: A potential role for the CYP4F3 locus.
Children who consumed a higher dietary ratio of omega6/omega3 were susceptible for Crohn's disease if they were also carriers of specific variants of CYP4F3 and FADS2 genes.
Title: Interactions between the dietary polyunsaturated fatty acid ratio and genetic factors determine susceptibility to pediatric Crohn's disease.
In this short review, emphasis will be placed on the regulation and the functional roles of human CYP4F3--{REVIEW}
Title: Human cytochrome P450 4F3: structure, functions, and prospects.
can directly stimulate osteoclast differentiation dependent of RANKL
Title: LTB4 can stimulate human osteoclast differentiation dependent of RANKL.
CYP4F3B is the key enzyme to produce 20-HETE by omega-hydroxylation of arachidonic acid in liver cells
Title: CYP4F3B is induced by PGA1 in human liver cells: a regulation of the 20-HETE synthesis.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
By regulating the balance of LTB4 in the lung, LTB4OH may function as a suppressor of lung carcinogenesis.
Title: Differential modulation of leukotriene B4 synthesis and degradation in human bronchoalveolar lavage cells by lipopolysaccharide and tobacco smoke.
Main fatty acid pathway is the omega-hydroxylation of polyunsaturated fatty acids.
Title: Cytochromes P450 from family 4 are the main omega hydroxylating enzymes in humans: CYP4F3B is the prominent player in PUFA metabolism.
3-hydroxystearate and 3-hydroxypalmitate are converted to omega-hydroxylated 3-OHDCA precursors in liver; CYP4F11 and, to a lesser extent, CYP4F2 catalyzed omega-hydroxylation of 3-hydroxystearate; CYP4F3b, CYP4F12, and CYP4A11 had negligible activity.
Title: Omega oxidation of 3-hydroxy fatty acids by the human CYP4F gene subfamily enzyme CYP4F11.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D19S244 (e-PCR)
- UniSTS:147762

NoName (e-PCR)
- UniSTS:482391

SHGC-12532 (e-PCR)
- UniSTS:41569

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 20-aldehyde-leukotriene B4 20-monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables 20-aldehyde-leukotriene B4 20-monooxygenase activity	TAS Traceable Author Statement more info
enables 20-hydroxy-leukotriene B4 omega oxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables 20-hydroxy-leukotriene B4 omega oxidase activity	TAS Traceable Author Statement more info
enables arachidonate omega-hydroxylase activity	IEA Inferred from Electronic Annotation more info
enables heme binding	IEA Inferred from Electronic Annotation more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables leukotriene-B4 20-monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables leukotriene-B4 20-monooxygenase activity	TAS Traceable Author Statement more info
enables long-chain fatty acid omega-1 hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables long-chain fatty acid omega-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables monooxygenase activity	TAS Traceable Author Statement more info
enables very long-chain fatty acid omega-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in arachidonate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in arachidonate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in fatty acid omega-oxidation	IDA Inferred from Direct Assay more info	PubMed
involved_in icosanoid metabolic process	TAS Traceable Author Statement more info
involved_in leukotriene B4 catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in leukotriene B4 catabolic process	IEA Inferred from Electronic Annotation more info
involved_in leukotriene metabolic process	TAS Traceable Author Statement more info
involved_in lipoxin A4 metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in lipoxin B4 metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in menaquinone catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in omega-hydroxylase P450 pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in phylloquinone catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: cytochrome P450 4F3

Names: 20-HETE synthase; 20-hydroxyeicosatetraenoic acid synthase; cytochrome P-450; cytochrome P450, family 4, subfamily F, polypeptide 3; cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase); cytochrome P450-LTB-omega; docosahexaenoic acid omega-hydroxylase CYP4F3; leukotriene B4 omega hydroxylase; leukotriene-B(4) 20-monooxygenase 2; leukotriene-B(4) omega-hydroxylase 2; leukotriene-B4 20-monooxygenase

NP_000887.2

EC 1.14.14.1

EC 1.14.14.79

EC 1.14.14.94

NP_001186137.1

EC 1.14.14.1

EC 1.14.14.79

EC 1.14.14.94

NP_001186138.1

EC 1.14.14.1

EC 1.14.14.79

EC 1.14.14.94

NP_001356625.1

EC 1.14.14.1

EC 1.14.14.79

EC 1.14.14.94

XP_011526316.1

EC 1.14.14.1

EC 1.14.14.79

EC 1.14.14.94

XP_016882304.1

EC 1.14.14.1

EC 1.14.14.79

EC 1.14.14.94

XP_047294796.1

EC 1.14.14.1

EC 1.14.14.79

EC 1.14.14.94

XP_054177005.1

EC 1.14.14.1

EC 1.14.14.79

EC 1.14.14.94

XP_054177006.1

EC 1.14.14.1

EC 1.14.14.79

EC 1.14.14.94

XP_054177007.1

EC 1.14.14.1

EC 1.14.14.79

EC 1.14.14.94

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007964.2 RefSeqGene

Range

5002..26930

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000896.3 → NP_000887.2 cytochrome P450 4F3 isoform a

See identical proteins and their annotated locations for NP_000887.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform a, which is the same length but has internal differences compared to isoform b.

Source sequence(s)

AB002454, AD000685, D12621

Consensus CDS

CCDS12332.1

UniProtKB/Swiss-Prot

B7Z8Z3, O60634, Q08477, Q5U740

UniProtKB/TrEMBL

A0A0A0MQR0

Related

ENSP00000221307.6, ENST00000221307.13

Conserved Domains (1) summary

pfam00067
Location:52 → 515

p450; Cytochrome P450
NM_001199208.2 → NP_001186137.1 cytochrome P450 4F3 isoform b

See identical proteins and their annotated locations for NP_001186137.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon and contains another alternate in-frame exon compared to variant 1. The resulting isoform (b) is the same length but has a different internal segment compared to isoform a. Variants 2, 3, and 4 all encode the same isoform (b).

Source sequence(s)

AB002454, AD000685, BC136299, DB184202

Consensus CDS

CCDS59362.1

UniProtKB/TrEMBL

B7Z442

Related

ENSP00000466988.1, ENST00000591058.5

Conserved Domains (1) summary

pfam00067
Location:52 → 515

p450; Cytochrome P450
NM_001199209.2 → NP_001186138.1 cytochrome P450 4F3 isoform b

See identical proteins and their annotated locations for NP_001186138.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks an alternate in-frame exon, and contains another alternate in-frame exon compared to variant 1. The resulting isoform (b) is the same length but has a different internal segment compared to isoform a. Variants 2, 3, and 4 all encode the same isoform (b).

Source sequence(s)

AD000685, AK316136, BC136299, DB184202

Consensus CDS

CCDS59362.1

UniProtKB/TrEMBL

B7Z442

Related

ENSP00000466395.1, ENST00000586182.6

Conserved Domains (1) summary

pfam00067
Location:52 → 515

p450; Cytochrome P450
NM_001369696.1 → NP_001356625.1 cytochrome P450 4F3 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (4), as well as variants 2 and 3, encodes isoform b.

Source sequence(s)

AD000685

Consensus CDS

CCDS59362.1

UniProtKB/TrEMBL

B7Z442

Related

ENSP00000468105.1, ENST00000585846.1

Conserved Domains (1) summary

pfam00067
Location:52 → 515

p450; Cytochrome P450

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

15640897..15662825

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047438840.1 → XP_047294796.1 cytochrome P450 4F3 isoform X2

UniProtKB/TrEMBL

B7Z449
XM_017026815.2 → XP_016882304.1 cytochrome P450 4F3 isoform X1

Conserved Domains (1) summary

pfam00067
Location:52 → 378

p450; Cytochrome P450
XM_011528014.4 → XP_011526316.1 cytochrome P450 4F3 isoform X2

See identical proteins and their annotated locations for XP_011526316.1

UniProtKB/TrEMBL

B7Z449

Conserved Domains (1) summary

pfam00067
Location:1 → 366

p450; Cytochrome P450

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

15766167..15788209

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054321031.1 → XP_054177006.1 cytochrome P450 4F3 isoform X2

UniProtKB/TrEMBL

B7Z449
XM_054321030.1 → XP_054177005.1 cytochrome P450 4F3 isoform X1
XM_054321032.1 → XP_054177007.1 cytochrome P450 4F3 isoform X2

UniProtKB/TrEMBL

B7Z449