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

Gene ID: 1579, updated on 14-Nov-2024

Summary

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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

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See CYP4A11 in Genome Data Viewer
Location:
1p33
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (46929188..46941476, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (46806597..46818885, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47394860..47407148, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 4 subfamily B member 1 Neighboring gene cytochrome P450 family 4 subfamily Z member 2, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47327255-47327861 Neighboring gene tubulin alpha pseudogene 8 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:47434192-47434383 Neighboring gene cytochrome P450 family 4 subfamily A member 26, pseudogene Neighboring gene cytochrome P450 family 4 subfamily X member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47449029-47449836 Neighboring gene cytochrome P450 family 4 subfamily A member 43, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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
Human metabolic individuality in biomedical and pharmaceutical research.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 arachidonate epoxygenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables arachidonate monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
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 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 arachidonate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in arachidonate 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
NP_001306084.1
NP_001350516.1
XP_005270596.1
XP_016855954.1
XP_054190680.1

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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

  1. NG_007932.1 RefSeqGene

    Range
    5009..17297
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    46929188..46941476 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    B4DPB8

  2. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    46806597..46818885 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334705.1 → XP_054190680.1  cytochrome P450 4A11 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q02928.1 GenPept UniProtKB/Swiss-Prot:Q02928

Gene LinkOut

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