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    CYP4F12 cytochrome P450 family 4 subfamily F member 12 [ Homo sapiens (human) ]

    Gene ID: 66002, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CYP4F12provided by HGNC
    Official Full Name
    cytochrome P450 family 4 subfamily F member 12provided by HGNC
    Primary source
    HGNC:HGNC:18857
    See related
    Ensembl:ENSG00000186204 MIM:611485; AllianceGenome:HGNC:18857
    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
    CYPIVF12; F22329_1
    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 likely localizes to the endoplasmic reticulum. When expressed in yeast the enzyme is capable of oxdizing arachidonic acid. It can also catalyze the epoxidation of 22:6n-3 and 22:5n-3 polyunsaturated long-chain fatty acids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
    Expression
    Biased expression in small intestine (RPKM 23.2), duodenum (RPKM 22.3) and 10 other tissues See more
    Orthologs
    all
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    Genomic context

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    See CYP4F12 in Genome Data Viewer
    Location:
    19p13.12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (15673087..15697174)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (15798486..15822059)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (15783897..15807984)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 4 subfamily F member 3 Neighboring gene cytochrome P450 family 4 subfamily F member 10, pseudogene Neighboring gene olfactory receptor family 10 subfamily H member 2 Neighboring gene olfactory receptor family 10 subfamily H member 3

    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. CYP4F12 is a potential biomarker and inhibits cell migration of head and neck squamous cell carcinoma via EMT pathway. Jia W, et al. Sci Rep, 2023 Jul 6. PMID 37414830, Free PMC Article
    2. Genetic variants of CYP4F12 gene are associated with glioma susceptibility. Li N, et al. Int J Cancer, 2021 Dec 1. PMID 34319593
    3. Distinction between human cytochrome P450 (CYP) isoforms and identification of new phosphorylation sites by mass spectrometry. Redlich G, et al. J Proteome Res, 2008 Nov. PMID 18828626
    4. Human CYP4F12 genetic polymorphism: identification and functional characterization of seven variant allozymes. Cauffiez C, et al. Biochem Pharmacol, 2004 Dec 15. PMID 15548388
    5. Expression and induction of CYP4F subfamily in human leukocytes and HL60 cells. Kikuta Y, et al. Biochim Biophys Acta, 2004 Jul 5. PMID 15238214

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CYP4F12 is a potential biomarker and inhibits cell migration of head and neck squamous cell carcinoma via EMT pathway.
      Title: CYP4F12 is a potential biomarker and inhibits cell migration of head and neck squamous cell carcinoma via EMT pathway.
    2. Genetic variants of CYP4F12 gene are associated with glioma susceptibility.
      Title: Genetic variants of CYP4F12 gene are associated with glioma susceptibility.
    3. These results suggest that human and marmoset P450 3A4/90 and 4F12 in livers or small intestines played important roles in terfenadine t-butyl hydroxylation. Marmosets could be a model for humans during first pass extraction of terfenadine and related substrates.
      Title: Terfenadine t-butyl hydroxylation catalyzed by human and marmoset cytochrome P450 3A and 4F enzymes in livers and small intestines.
    4. Our results showed that HCV infection induced expression of CYP4F12 protein, which bound to the HCV replication complex to facilitate viral replication.
      Title: Inducible CYP4F12 enhances Hepatitis C virus infection via association with viral nonstructural protein 5B.
    5. 3-hydroxystearate and 3-hydroxypalmitate are converted to omega-hydroxylated 3-OHDCA precursors in liver; CYP4F11 and, to a lesser extent, CYP4F2 catalyzed omega-hydroxylation of 3-hydroxystearate; CYP4F3b, CYP4F12, and CYP4A11 had negligible activity.
      Title: Omega oxidation of 3-hydroxy fatty acids by the human CYP4F gene subfamily enzyme CYP4F11.
    6. We conclude that CYP4F8 and CYP4F12 catalyze epoxidation of 22:6n-3 and 22:5n-3, and CYP4F8 omega3-hydroxylation of 22:5n-6.
      Title: Oxygenation of polyunsaturated long chain fatty acids by recombinant CYP4F8 and CYP4F12 and catalytic importance of Tyr-125 and Gly-328 of CYP4F8.
    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

    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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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alkane 1-monooxygenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables arachidonic acid epoxygenase activity ISS
    Inferred from Sequence or Structural Similarity
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables monooxygenase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in epoxygenase P450 pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in fatty acid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in leukotriene B4 catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in long-chain fatty acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in menaquinone catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phylloquinone catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in pressure natriuresis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in renal water homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sodium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in very long-chain fatty acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in vitamin E metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in xenobiotic metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in intracellular membrane-bounded organelle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cytochrome P450 4F12
    Names
    cytochrome P450, family 4, subfamily F, polypeptide 12
    cytochrome P450, subfamily IVF, polypeptide 12
    NP_076433.3
    XP_006722913.1
    XP_011526504.1
    XP_011526506.1
    XP_011526507.1
    XP_011526509.1
    XP_011526510.1
    XP_016882661.1
    XP_054177808.1
    XP_054177809.1
    XP_054177810.1
    XP_054177811.1
    XP_054177812.1
    XP_054177813.1
    XP_054177814.1

    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_008336.2 RefSeqGene

      Range
      5012..29099
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_023944.4 → NP_076433.3  cytochrome P450 4F12

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the supported protein.
      Source sequence(s)
      AB035130, AC122702, DC418592, DR422336
      Consensus CDS
      CCDS42517.1
      UniProtKB/Swiss-Prot
      E7ET51, O60389, Q5JPJ7, Q9HCS1, Q9HCS2
      UniProtKB/TrEMBL
      Q8IV39
      Related
      ENSP00000448998.1, ENST00000550308.6
      Conserved Domains (1) summary
      pfam00067
      Location:52 → 506
      p450; Cytochrome P450

    RNA

    1. NR_117085.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and contains two additional internal segments, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB035130, AC122702, AK075435, BC034916, DC418592, DR422336
      Related
      ENST00000518629.7

    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

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      15673087..15697174
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027172.2 → XP_016882661.1  cytochrome P450 4F12 isoform X1

    2. XM_011528208.3 → XP_011526510.1  cytochrome P450 4F12 isoform X2

      See identical proteins and their annotated locations for XP_011526510.1

      Conserved Domains (1) summary
      pfam00067
      Location:1 → 357
      p450; Cytochrome P450

    3. XM_006722850.4 → XP_006722913.1  cytochrome P450 4F12 isoform X2

      See identical proteins and their annotated locations for XP_006722913.1

      Conserved Domains (1) summary
      pfam00067
      Location:1 → 357
      p450; Cytochrome P450

    4. XM_011528202.4 → XP_011526504.1  cytochrome P450 4F12 isoform X2

      See identical proteins and their annotated locations for XP_011526504.1

      Conserved Domains (1) summary
      pfam00067
      Location:1 → 357
      p450; Cytochrome P450

    5. XM_011528205.3 → XP_011526507.1  cytochrome P450 4F12 isoform X3

      See identical proteins and their annotated locations for XP_011526507.1

      Conserved Domains (1) summary
      pfam00067
      Location:4 → 334
      p450; Cytochrome P450

    6. XM_011528207.3 → XP_011526509.1  cytochrome P450 4F12 isoform X4

      Conserved Domains (1) summary
      pfam00067
      Location:1 → 316
      p450; Cytochrome P450

    7. XM_011528204.3 → XP_011526506.1  cytochrome P450 4F12 isoform X3

      See identical proteins and their annotated locations for XP_011526506.1

      Conserved Domains (1) summary
      pfam00067
      Location:4 → 334
      p450; Cytochrome P450

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      15798486..15822059
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321833.1 → XP_054177808.1  cytochrome P450 4F12 isoform X1

    2. XM_054321839.1 → XP_054177814.1  cytochrome P450 4F12 isoform X2

    3. XM_054321834.1 → XP_054177809.1  cytochrome P450 4F12 isoform X2

    4. XM_054321835.1 → XP_054177810.1  cytochrome P450 4F12 isoform X2

    5. XM_054321837.1 → XP_054177812.1  cytochrome P450 4F12 isoform X3

    6. XM_054321838.1 → XP_054177813.1  cytochrome P450 4F12 isoform X4

    7. XM_054321836.1 → XP_054177811.1  cytochrome P450 4F12 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HCS2.3 GenPept UniProtKB/Swiss-Prot:Q9HCS2

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