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CYP4A22 cytochrome P450 family 4 subfamily A member 22 [ Homo sapiens (human) ]

Gene ID: 284541, updated on 27-Nov-2024

Summary

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Official Symbol
CYP4A22provided by HGNC
Official Full Name
cytochrome P450 family 4 subfamily A member 22provided by HGNC
Primary source
HGNC:HGNC:20575
See related
Ensembl:ENSG00000162365 MIM:615341; AllianceGenome:HGNC:20575
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
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 gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Expression
Biased expression in liver (RPKM 60.8) and kidney (RPKM 24.2) See more
Orthologs
all
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Genomic context

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See CYP4A22 in Genome Data Viewer
Location:
1p33
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (47137441..47149727)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (47014885..47027171)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47603113..47615399)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 4 subfamily X member 1 Neighboring gene uncharacterized LOC124904172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47489635-47490135 Neighboring gene cytochrome P450 family 4 subfamily Z member 1 Neighboring gene tubulin alpha pseudogene 9 Neighboring gene CYP4A22 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47569786-47570506 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:47573513-47574122 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:47578681-47579223 Neighboring gene Sharpr-MPRA regulatory region 13342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47644793-47645294 Neighboring gene MT-ND1 pseudogene 34 Neighboring gene long intergenic non-protein coding RNA 853

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
  • 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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Related articles in PubMed

  1. Novel polymorphisms in CYP4A22 associated with susceptibility to coronary heart disease. Huang K, et al. BMC Med Genomics, 2024 Mar 4. PMID 38438909, Free PMC Article
  2. Functional characterization and mechanistic modeling of the human cytochrome P450 enzyme CYP4A22. Durairaj P, et al. FEBS Lett, 2019 Aug. PMID 31199497
  3. Molecular modeling study on orphan human protein CYP4A22 for identification of potential ligand binding site. Gajendrarao P, et al. J Mol Graph Model, 2010 Feb 26. PMID 20079672
  4. Genetic polymorphism of CYP4A11 and CYP4A22 genes and in silico insights from comparative 3D modelling in a French population. Lino Cardenas CL, et al. Gene, 2011 Nov 1. PMID 21820496
  5. Genetic polymorphisms and haplotype structures of the CYP4A22 gene in a Japanese population. Hiratsuka M, et al. Mutat Res, 2006 Jul 25. PMID 16806293

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel polymorphisms in CYP4A22 associated with susceptibility to coronary heart disease.
    Title: Novel polymorphisms in CYP4A22 associated with susceptibility to coronary heart disease.
  2. Study demonstrate that the CYP4A22 gene codes for an active enzyme. It catalyzes the hydroxylation of both lauric and myristic acids. The structural model of CYP4A22 and substrate docking experiments suggest that its broadened spectrum of catalyzed reactions results from increased residual mobility of active site residue Phe320 and that arginines Arg96 and Arg233 are essential for substrate recognition.
    Title: Functional characterization and mechanistic modeling of the human cytochrome P450 enzyme CYP4A22.
  3. Data suggest that results could be helpful for further investigations of the potential role of CYP4A variants in the genetic susceptibility to cardiovascular diseases such as arterial hypertension.
    Title: Genetic polymorphism of CYP4A11 and CYP4A22 genes and in silico insights from comparative 3D modelling in a French population.
  4. A homology model has been constructed for CYP4A22 and refined by molecular dynamics simulation.
    Title: Molecular modeling study on orphan human protein CYP4A22 for identification of potential ligand binding site.
Submit: New GeneRIF Correction

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
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

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 16-hydroxypalmitate dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables alkane 1-monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables arachidonate monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
NOT enables arachidonate omega-hydroxylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables heme binding IEA
Inferred from Electronic Annotation
more info
  
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
  
enables long-chain fatty acid omega-hydroxylase activity IEA
Inferred from Electronic Annotation
more info
  
enables medium-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 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 linoleic acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lipid hydroxylation IDA
Inferred from Direct Assay
more info
 PubMed 
NOT involved_in omega-hydroxylase P450 pathway IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
cytochrome P450 4A22
Names
CYPIVA22
cytochrome P450 4A22K
cytochrome P450, family 4, subfamily A, polypeptide 22
fatty acid omega-hydroxylase
lauric acid omega-hydroxylase
long-chain fatty acid omega-monooxygenase
NP_001010969.2
NP_001295031.1
XP_005270824.1
XP_005270827.1
XP_047274137.1
XP_054192098.1
XP_054192099.1
XP_054192100.1

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

  1. NG_007937.1 RefSeqGene

    Range
    5007..17293
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001010969.4 → NP_001010969.2  cytochrome P450 4A22 isoform 1

    See identical proteins and their annotated locations for NP_001010969.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL135960, BC148248
    Consensus CDS
    CCDS30707.1
    UniProtKB/Swiss-Prot
    Q5TCH3, Q5TCH4, Q6JXK7, Q6JXK8, Q9NRM4
    UniProtKB/TrEMBL
    Q16802
    Related
    ENSP00000360958.3, ENST00000371891.8
    Conserved Domains (1) summary
    pfam00067
    Location:52 → 505
    p450; Cytochrome P450

  2. NM_001308102.2 → NP_001295031.1  cytochrome P450 4A22 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and has multiple differences in the coding region, one of which results in a translational frameshift, compared to variant 1. The resulting protein (isoform 2) has a distinct internal region and has a shorter C-terminus than isoform 1.
    Source sequence(s)
    AL135960, BC142607, BC142690, BC148248
    Consensus CDS
    CCDS76160.1
    UniProtKB/TrEMBL
    A0A087WZX9, A5PL05
    Related
    ENSP00000482952.1, ENST00000619754.4
    Conserved Domains (1) summary
    cl12078
    Location:52 → 357
    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

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    47137441..47149727
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270767.4 → XP_005270824.1  cytochrome P450 4A22 isoform X1

    See identical proteins and their annotated locations for XP_005270824.1

    UniProtKB/TrEMBL
    A5PL05, Q5TCH5
    Related
    ENSP00000360957.3, ENST00000371890.7
    Conserved Domains (1) summary
    cl12078
    Location:52 → 407
    p450; Cytochrome P450

  2. XM_047418181.1 → XP_047274137.1  cytochrome P450 4A22 isoform X2

  3. XM_005270770.4 → XP_005270827.1  cytochrome P450 4A22 isoform X3

    UniProtKB/TrEMBL
    V9GYQ2
    Conserved Domains (1) summary
    cl12078
    Location:52 → 212
    p450; Cytochrome P450

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    47014885..47027171
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336123.1 → XP_054192098.1  cytochrome P450 4A22 isoform X1

  2. XM_054336124.1 → XP_054192099.1  cytochrome P450 4A22 isoform X2

  3. XM_054336125.1 → XP_054192100.1  cytochrome P450 4A22 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5TCH4.1 GenPept UniProtKB/Swiss-Prot:Q5TCH4

Gene LinkOut

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