CYP2F1 cytochrome P450 family 2 subfamily F member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP2F1provided by HGNC
Official Full Name: cytochrome P450 family 2 subfamily F member 1provided by HGNC
Primary source: HGNC:HGNC:2632
See related: Ensembl:ENSG00000197446 MIM:124070; Vega:OTTHUMG00000167412
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: C2F1; CYP2F; CYPIIF1
Summary: This gene 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 and is known to dehydrogenate 3-methylindole, an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
Orthologs: all

Genomic context

Location:: 19q13.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
108	current	GRCh38.p7 (GCF_000001405.33)	19	NC_000019.10 (41114292..41128381)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (41620312..41634286)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Tissue distribution of transgenic mRNA expression agrees well with the known respiratory tract-selective expression of CYP2A13 and CYP2F1 and hepatic expression of CYP2B6 in humans.
Title: Generation and characterization of a CYP2A13/2B6/2F1-transgenic mouse model.
Patients with occupational chronic bronchitis and healthy workers significantly differed from each other in the frequency distribution of the genotypes ofthe CYP2F1 (rs11399890, c.14_15insC
Title: [Polymorphic markers of the CYP1B1 (4326C > G), CYP2F1 (c.14_15insC), CYP2J2 (-76G > T), and CYP2S1 (13106C > T and 13255A > G) genes and genetic predisposition to chronic respiratory diseases induced by smoking and occupational factors].
Association analysis of CYP2F1 gene insertion variant with chronic obstructive pulmonary disease have shown high frequency (87.5%) of normal allele in Tatars patients with very severe stage and manifestation of chronic obstructive pulmonary disease.
Title: [The CYP1B1 and CYP2F1 genes polymorphisms frequency in three ethnic groups of Bashkortostan and chronic obstructive pulmonary disease patients].
A lot of genetic polymorphism of CYP2F1 gene is found in Guangdong population of China, however, no single genetic polymorphism associated with the individual susceptibility to nasopharyngeal carcinoma can be identified.
Title: [Study on genetic polymorphisms of CYP2F1 gene in Guangdong population of China].
Observational study of genotype prevalence. (HuGE Navigator)
Title: CYP2F1 genetic polymorphism: identification of interethnic variations.
Observational study of gene-disease association. (HuGE Navigator)
Title: [The CYP1B1 and CYP2F1 genes polymorphisms frequency in three ethnic groups of Bashkortostan and chronic obstructive pulmonary disease patients].
a novel LSF(lung-specific factor) and its consensus sequence that may control tissue-specific expression of CYP2F1.
Title: Characterization of the human lung CYP2F1 gene and identification of a novel lung-specific binding motif.
24 novel mutations distributed in the promoter region of the gene, as well as in the coding regions and their flanking intronic sequences;the CYP2F1 genetic polymorphism has no implications in the pathogenesis of lung cancer
Title: Molecular analysis of the CYP2F1 gene: identification of a frequent non-functional allelic variant.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See Variation Viewer (GRCh37.p13)

Pathways from BioSystems

Go to the top of the page Help

Biological oxidations, organism-specific biosystem (from REACTOME)
Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
CYP2E1 reactions, organism-specific biosystem (from REACTOME)
CYP2E1 reactions, organism-specific biosystemCYP2E1 can metabolize and activate a large number of solvents and industrial monomers as well as drugs. This quality of CYP2E1 may make it an important determinant of human susceptibility to the toxi...
Cytochrome P450 - arranged by substrate type, organism-specific biosystem (from REACTOME)
Cytochrome P450 - arranged by substrate type, organism-specific biosystemThe P450 isozyme system is the major phase 1 biotransforming system in man, accounting for more than 90% of drug biotransformations. This system has huge catalytic versatility and a broad substrate s...
Fatty acids, organism-specific biosystem (from REACTOME)
Fatty acids, organism-specific biosystemThe CYP4 family are the main CYPs involved in the metabolism of long-chain fatty acids.
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of xenobiotics by cytochrome P450, organism-specific biosystem (from KEGG)
Metabolism of xenobiotics by cytochrome P450, organism-specific biosystem
Metabolism of xenobiotics by cytochrome P450
Metabolism of xenobiotics by cytochrome P450, conserved biosystem (from KEGG)
Metabolism of xenobiotics by cytochrome P450, conserved biosystem
Metabolism of xenobiotics by cytochrome P450
Metapathway biotransformation, organism-specific biosystem (from WikiPathways)
Metapathway biotransformation, organism-specific biosystem
Metapathway biotransformation
Oxidation by Cytochrome P450, organism-specific biosystem (from WikiPathways)
Oxidation by Cytochrome P450, organism-specific biosystemOxidation of a substrate by Cytochrome P450. Adapted from Niesink et al., Chapter 3, p. 47-48.
Phase 1 - Functionalization of compounds, organism-specific biosystem (from REACTOME)
Phase 1 - Functionalization of compounds, organism-specific biosystemPhase 1 of metabolism is concerned with functionalization, that is the introduction or exposure of functional groups on the chemical structure of a compound. This provides a 'handle' for phase 2 conj...
Tryptophan metabolism, organism-specific biosystem (from WikiPathways)
Tryptophan metabolism, organism-specific biosystem
Tryptophan metabolism
Xenobiotics, organism-specific biosystem (from REACTOME)
Xenobiotics, organism-specific biosystemOf the 50 microsomal CYPs, 15 act on xenobiotics. They all possess wide substrate specificity to cater for most foreign compounds that find their way into the body.

General gene information

Go to the top of the page Help

Markers

NoName (e-PCR)
- UniSTS:482388

NoName (e-PCR)
- UniSTS:486503

SHGC-132734 (e-PCR)
- UniSTS:170864

NoName (e-PCR)
- UniSTS:481142

D19S986 (e-PCR)
- UniSTS:30889

Homology

Homologs of the CYP2F1 gene: The CYP2F1 gene is conserved in chimpanzee, Rhesus monkey, dog, mouse, and rat.
Orthologs from Annotation Pipeline: 37 organisms have orthologs with human gene CYP2F1
The Hierarchical Catalog of Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
arachidonic acid epoxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
aromatase activity	IEA Inferred from Electronic Annotation more info
heme binding	IEA Inferred from Electronic Annotation more info
iron ion binding	IEA Inferred from Electronic Annotation more info
monooxygenase activity	TAS Traceable Author Statement more info	PubMed
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IDA Inferred from Direct Assay more info	PubMed
oxygen binding	TAS Traceable Author Statement more info
steroid hydroxylase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
epoxygenase P450 pathway	IBA Inferred from Biological aspect of Ancestor more info
naphthalene metabolic process	IDA Inferred from Direct Assay more info	PubMed
oxidation-reduction process	IEA Inferred from Electronic Annotation more info
response to toxic substance	IEA Inferred from Electronic Annotation more info
trichloroethylene metabolic process	IEA Inferred from Electronic Annotation more info
xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
endoplasmic reticulum membrane	TAS Traceable Author Statement more info
intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
organelle membrane	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: cytochrome P450 2F1

Names: cytochrome P450, family 2, subfamily F, polypeptide 1; cytochrome P450, subfamily IIF, polypeptide 1; flavoprotein-linked monooxygenase; microsomal monooxygenase; xenobiotic monooxygenase

NP_000765.2

EC 1.14.14.1

XP_011524853.1

EC 1.14.14.1

XP_011524854.1

EC 1.14.14.1

XP_011524855.1

EC 1.14.14.1

XP_011524856.1

EC 1.14.14.1

XP_011524857.1

EC 1.14.14.1

XP_016881873.1

EC 1.14.14.1

XP_016881874.1

EC 1.14.14.1

XP_016881875.1

EC 1.14.14.1

XP_016881876.1

EC 1.14.14.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.