CYP4A11 cytochrome P450 family 4 subfamily A member 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP4A11provided by HGNC
Official Full Name: cytochrome P450 family 4 subfamily A member 11provided by HGNC
Primary source: HGNC:HGNC:2642
See related: Ensembl:ENSG00000187048 MIM:601310; AllianceGenome:HGNC:2642
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: CP4Y; CYP4A2; CYP4AII; CYPIVA11
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 hydroxylates medium-chain fatty acids such as laurate and myristate. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
Expression: Biased expression in liver (RPKM 280.4) and kidney (RPKM 130.2) See more
Orthologs: all
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Genomic context

Location:: 1p33

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (46929188..46941476, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (46806597..46818885, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (47394860..47407148, complement)

Chromosome 1 - NC_000001.11 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: 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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The role of cytochrome P450 gene rs1126742 polymorphism and risk of hypertension: a systematic review and meta-analysis.
Title: The role of cytochrome P450 gene rs1126742 polymorphism and risk of hypertension: a systematic review and meta-analysis.
CYP4A11 is involved in the development of nonalcoholic fatty liver disease via ROSinduced lipid peroxidation and inflammation.
Title: CYP4A11 is involved in the development of nonalcoholic fatty liver disease via ROS‑induced lipid peroxidation and inflammation.
Mutation in CYP4A11 gene is associated with cetuximab resistance in colorectal cancer.
Title: New genetic variations discovered in KRAS wild-type cetuximab resistant chinese colorectal cancer patients.
The rs1126742 T/C polymorphism of CYP4A11 is more likely to be a genetic risk factor for the hypertension cases in the Caucasian population. Moreover, whereas the AG genotype of CYP4A11 rs9332978 may be associated with an increased risk of hypertension, the AA genotype of rs9333025 may be linked to a decreased risk of cardiovascular and cerebrovascular diseases. [meta-analysis]
Title: Genetic role of CYP4A11 polymorphisms in the risk of developing cardiovascular and cerebrovascular diseases.
Haplotype G-C-A of CYP4A11 was associated with increased risk of coronary artery disease.
Title: A Novel Polymorphism in the Promoter of the CYP4A11 Gene Is Associated with Susceptibility to Coronary Artery Disease.
Gene-gene interaction between rs1126742 and rs3890011 and gene-environment interaction between rs1126742 and smoking were associated with increased EH risk.
Title: Associations of CYP4A11 gene-gene and gene-smoking interactions with essential hypertension in the male eastern Chinese Han population.
The DEGs, such as AGTR1, CYP3A4 and CYP4A11 may play critical roles in the development of HTN likely via the regulation by hsa-miR-26b-5p and taking part in some pathways.
Title: Identification of potential candidate genes for hypertensive nephropathy based on gene expression profile.
Heme-thiolate sulfenylation of human cytochrome P450 4A11 functions as a redox switch for catalytic inhibition.
Title: Heme-thiolate sulfenylation of human cytochrome P450 4A11 functions as a redox switch for catalytic inhibition.
These results point to a potential 20-HETE dependence of intrarenal angiotensinogen production and ANGII receptor type 1 activation that are associated with increases in NCC and SGK1 and identify elevated P450 4A11 activity and 20-HETE as potential risk factors for salt-sensitive human hypertension by perturbation of the renal renin-angiotensin axis.
Title: 20-Hydroxyeicosatetraenoic Acid (HETE)-dependent Hypertension in Human Cytochrome P450 (CYP) 4A11 Transgenic Mice: NORMALIZATION OF BLOOD PRESSURE BY SODIUM RESTRICTION, HYDROCHLOROTHIAZIDE, OR BLOCKADE OF THE TYPE 1 ANGIOTENSIN II RECEPTOR.
CYP4A11 Variants are associated with Ischemic Stroke.
Title: Interactions Among CYP2C8, EPHX2, and CYP4A11 Variants and CYP Plasma Metabolite Levels in Ischemic Stroke.

Submit: New GeneRIF Correction See all GeneRIFs (44)

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

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Human metabolic individuality in biomedical and pharmaceutical research. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-74787 (e-PCR)
- UniSTS:82953

GDB:226298 (e-PCR)
- UniSTS:156239

SHGC-145153 (e-PCR)
- UniSTS:174420

SHGC-74786 (e-PCR)
- UniSTS:79317

RH122360 (e-PCR)
- UniSTS:138457

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alkane 1-monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alkane 1-monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables arachidonic acid epoxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables arachidonic acid monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables aromatase 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 long-chain fatty acid omega-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables monooxygenase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in arachidonic acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in arachidonic acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in epoxygenase P450 pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid metabolic process	TAS Traceable Author Statement more info
involved_in icosanoid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in kidney development	IBA Inferred from Biological aspect of Ancestor more info
involved_in lauric acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in leukotriene B4 catabolic process	IEA Inferred from Electronic Annotation more info
involved_in leukotriene metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in linoleic acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in long-chain fatty acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in omega-hydroxylase P450 pathway	TAS Traceable Author Statement more info
involved_in oxylipin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of icosanoid secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pressure natriuresis	IEP Inferred from Expression Pattern more info	PubMed
involved_in renal water homeostasis	IEP Inferred from Expression Pattern more info	PubMed
involved_in sodium ion homeostasis	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cytochrome P450 4A11

Names: 20-HETE synthase; 20-hydroxyeicosatetraenoic acid synthase; P450HL-omega; alkane-1 monooxygenase; cytochrome P-450HK-omega; cytochrome P450, family 4, subfamily A, polypeptide 11; cytochrome P450, subfamily IVA, polypeptide 11; cytochrome P450HL-omega; fatty acid omega-hydroxylase; lauric acid omega-hydroxylase; long-chain fatty acid omega-monooxygenase

NP_000769.2

EC 1.14.14.1

EC 1.14.14.80

NP_001306084.1

EC 1.14.14.1

EC 1.14.14.80

NP_001350516.1

EC 1.14.14.1

EC 1.14.14.80

XP_005270596.1

EC 1.14.14.1

EC 1.14.14.80

XP_016855954.1

EC 1.14.14.1

EC 1.14.14.80

XP_054190680.1

EC 1.14.14.1

EC 1.14.14.80

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_007932.1 RefSeqGene

Range

5009..17297

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000778.4 → NP_000769.2 cytochrome P450 4A11 isoform 1

See identical proteins and their annotated locations for NP_000769.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL731892, CD014132, D26481, S67580

Consensus CDS

CCDS543.1

UniProtKB/Swiss-Prot

Q02928, Q06766, Q16865, Q16866, Q5VSP8, Q86SU6, Q8IWY5

UniProtKB/TrEMBL

Q16802

Related

ENSP00000311095.4, ENST00000310638.9

Conserved Domains (1) summary

pfam00067
Location:52 → 505

p450; Cytochrome P450
NM_001319155.2 → NP_001306084.1 cytochrome P450 4A11 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AL731892, CD013974, L04751

UniProtKB/TrEMBL

Q16802

Conserved Domains (1) summary

pfam00067
Location:52 → 473

p450; Cytochrome P450
NM_001363587.2 → NP_001350516.1 cytochrome P450 4A11 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (10) has multiple differences in the coding region compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AL731892

Consensus CDS

CCDS85973.1

UniProtKB/TrEMBL

A5PL05, V9GZ77

Related

ENSP00000477495.1, ENST00000462347.5

Conserved Domains (1) summary

pfam00067
Location:52 → 407

p450; Cytochrome P450

RNA

NR_134988.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two alternate exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL731892, CD013975, L04751
NR_134989.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL731892, CD013976, L04751
NR_134990.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate splice junction and lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL731892, CD013977, L04751
NR_134991.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) uses an alternate splice junction and lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL731892, CD013978, L04751
NR_134992.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks four alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL731892, CD013979, L04751
NR_134993.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (8) lacks three alternate exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL731892, CD013980, L04751

Related

ENST00000475477.5
NR_134994.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (9) uses an alternate splice junction and lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL731892, CD014132, L04751

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

46929188..46941476 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017000465.2 → XP_016855954.1 cytochrome P450 4A11 isoform X1

UniProtKB/TrEMBL

B4DPB8
XM_005270539.1 → XP_005270596.1 cytochrome P450 4A11 isoform X2

UniProtKB/TrEMBL

A5PL05

Conserved Domains (1) summary

cl12078
Location:52 → 357

p450; Cytochrome P450