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

    Gene ID: 284541, updated on 2-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 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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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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