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    CYP4B1 cytochrome P450 family 4 subfamily B member 1 [ Homo sapiens (human) ]

    Gene ID: 1580, updated on 14-Nov-2024

    Summary

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    Official Symbol
    CYP4B1provided by HGNC
    Official Full Name
    cytochrome P450 family 4 subfamily B member 1provided by HGNC
    Primary source
    HGNC:HGNC:2644
    See related
    Ensembl:ENSG00000142973 MIM:124075; AllianceGenome:HGNC:2644
    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
    CYPIVB1; P-450HP
    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. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
    Annotation information
    Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
    Expression
    Biased expression in lung (RPKM 169.4), fat (RPKM 49.5) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CYP4B1 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 (46799046..46819413)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (46676425..46696812)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47264718..47285085)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene EFCAB14 antisense RNA 1 Neighboring gene uncharacterized LOC105378698 Neighboring gene Sharpr-MPRA regulatory region 7632 Neighboring gene EF-hand calcium binding domain 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47193413-47194254 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47194255-47195096 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:47210608-47210835 Neighboring gene uncharacterized LOC105378699 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:47256389-47256889 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 cytochrome P450 family 4 subfamily A member 11

    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. CYP4B1 polymorphisms and the risk of breast cancer in Chinese women: a case-control study.
      Title: CYP4B1 polymorphisms and the risk of breast cancer in Chinese women: a case-control study.
    2. Missense variants in CYP4B1 associated with increased risk of lung cancer among Chinese Han population.
      Title: Missense variants in CYP4B1 associated with increased risk of lung cancer among Chinese Han population.
    3. reviews ability of CYP4B1 to hydroxylate fatty acids and fatty alcohols, its role in xenobiotic and endobiotic metabolism, and its unusual heme-binding characteristics
      Title: Spotlight on CYP4B1.
    4. Case-control study on CYP4B1 gene polymorphism and susceptibility to gastric cancer in the chinese Han population.
      Title: Case-control study on CYP4B1 gene polymorphism and susceptibility to gastric cancer in the chinese Han population.
    5. CYP4B1 is a prognostic biomarker and potential therapeutic target in lung adenocarcinoma.
      Title: CYP4B1 is a prognostic biomarker and potential therapeutic target in lung adenocarcinoma.
    6. Cytochrome P450 4B1 (CYP4B1) as a target in cancer treatment.
      Title: Cytochrome P450 4B1 (CYP4B1) as a target in cancer treatment.
    7. oxidation of fatty acids and fatty alcohols by cytochrome P450 monooxygenase CYP4B1
      Title: Novel insights into oxidation of fatty acids and fatty alcohols by cytochrome P450 monooxygenase CYP4B1.
    8. Loss of the CYP4B1 gene expression may play an important role in urothelial carcinoma progression.
      Title: Downregulation of the cytochrome P450 4B1 protein confers a poor prognostic factor in patients with urothelial carcinomas of upper urinary tracts and urinary bladder.
    9. the Ser207 insertion does not rescue the P450 functional activity of human CYP4B1 that has been lost during evolution.
      Title: Characterization of an Additional Splice Acceptor Site Introduced into CYP4B1 in Hominoidae during Evolution.
    10. Single nucleotide polymorphisms of CYP2C8,CYP2E1 and CYP4B1 are associated with susceptibility to gout in ethnic Han males population.
      Title: [Association of single nucleotide polymorphisms of cytochrome P450 gene with susceptibility to gout in ethnic Han males from coastal regions of Shandong province].
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    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
    Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
    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 heme binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables heterocyclic compound binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables monooxygenase activity TAS
    Traceable Author Statement
    more info
    		  
    enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxygen binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biphenyl metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fatty acid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    cytochrome P450 4B1
    Names
    cytochrome P450, family 4, subfamily B, polypeptide 1
    cytochrome P450, subfamily IVB, polypeptide 1
    cytochrome P450-HP
    microsomal monooxygenase
    NP_000770.2
    NP_001093242.1
    NP_001306090.1
    NP_001306091.1
    NP_001306092.1

    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_007939.1 RefSeqGene

      Range
      5049..25416
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000779.4 → NP_000770.2  cytochrome P450 4B1 isoform b

      See identical proteins and their annotated locations for NP_000770.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, coding) represents the allele encoded by the GRCh38 reference genome and encodes isoform (b).
      Source sequence(s)
      AL356793, BM977596, DA380788, X16699
      Consensus CDS
      CCDS542.1
      UniProtKB/Swiss-Prot
      P13584, Q1HBI2, Q8TD85, Q8WWF2, Q8WWU9, Q8WWV0
      Related
      ENSP00000271153.4, ENST00000271153.8
      Conserved Domains (1) summary
      pfam00067
      Location:47 → 500
      p450; Cytochrome P450

    2. NM_001099772.2 → NP_001093242.1  cytochrome P450 4B1 isoform a

      See identical proteins and their annotated locations for NP_001093242.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, coding) represents the allele encoded by the GRCh38 reference genome and encodes isoform (a).
      Source sequence(s)
      AL356793, BC017758, BM977596
      Consensus CDS
      CCDS41328.1
      UniProtKB/Swiss-Prot
      P13584
      Related
      ENSP00000360991.4, ENST00000371923.9
      Conserved Domains (1) summary
      pfam00067
      Location:47 → 501
      p450; Cytochrome P450

    3. NM_001319161.2 → NP_001306090.1  cytochrome P450 4B1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, coding) represents the allele encoded by the GRCh38 reference genome and encodes isoform (c).
      Source sequence(s)
      AK300921, AL356793, AY151049, BM982575, CD013981
      Consensus CDS
      CCDS81318.1
      UniProtKB/TrEMBL
      Q8IZB0
      Related
      ENSP00000360987.4, ENST00000371919.8
      Conserved Domains (1) summary
      pfam00067
      Location:47 → 486
      p450; Cytochrome P450

    4. NM_001319162.2 → NP_001306091.1  cytochrome P450 4B1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, coding) represents the allele encoded by the GRCh38 reference genome and encodes isoform (d).
      Source sequence(s)
      AK300921, AL356793, BM982575, CD013981, DC358497
      UniProtKB/TrEMBL
      B4DV41
      Conserved Domains (1) summary
      pfam00067
      Location:1 → 338
      p450; Cytochrome P450

    5. NM_001319163.2 → NP_001306092.1  cytochrome P450 4B1 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, coding) represents the allele encoded by the GRCh38 reference genome and encodes isoform (e).
      Source sequence(s)
      AK300921, AL356793, BM982575, CD013981
      UniProtKB/TrEMBL
      B4DV41
      Conserved Domains (1) summary
      pfam00067
      Location:1 → 337
      p450; Cytochrome P450

    RNA

    1. NR_135003.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate splice junction 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)
      AK300921, AL356793, BM982575, CD013981
      Related
      ENST00000464439.6

    2. NR_178057.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, non-coding) uses the same exon combination as variant (1, coding) but represents the allele present on the T2T-CHM13v2.0 genome assembly. 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)
      CP068277

    3. NR_178058.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, non-coding) uses the same exon combination as variant (2, coding) but represents the allele present on the T2T-CHM13v2.0 genome assembly. 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)
      CP068277

    4. NR_178059.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, non-coding) uses the same exon combination as variant (3, coding) but represents the allele present on the T2T-CHM13v2.0 genome assembly. 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)
      CP068277

    5. NR_178060.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, non-coding) uses the same exon combination as variant (4, coding) but represents the allele present on the T2T-CHM13v2.0 genome assembly. 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)
      CP068277

    6. NR_178061.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, non-coding) uses the same exon combination as variant (5, coding) but represents the allele present on the T2T-CHM13v2.0 genome assembly. 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)
      CP068277

    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
      46799046..46819413
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      46676425..46696812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P13584.2 GenPept UniProtKB/Swiss-Prot:P13584

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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