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

Gene ID: 1580, updated on 5-Mar-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
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Genomic context

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Location:
1p33
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (46799046..46819413)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (46676425..46696812)
105.20220307 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
  • 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. Spotlight on CYP4B1. Röder A, et al. Int J Mol Sci, 2023 Jan 20. PMID 36768362, Free PMC Article
  2. Case-control study on CYP4B1 gene polymorphism and susceptibility to gastric cancer in the chinese Han population. Yu S, et al. BMC Med Genomics, 2022 Oct 28. PMID 36307788, Free PMC Article
  3. CYP4B1 is a prognostic biomarker and potential therapeutic target in lung adenocarcinoma. Liu X, et al. PLoS One, 2021. PMID 33592039, Free PMC Article
  4. Cytochrome P450 4B1 (CYP4B1) as a target in cancer treatment. Lim S, et al. Hum Exp Toxicol, 2020 Jun. PMID 32054340
  5. Novel insights into oxidation of fatty acids and fatty alcohols by cytochrome P450 monooxygenase CYP4B1. Thesseling FA, et al. Arch Biochem Biophys, 2020 Jan 15. PMID 31801692, Free PMC Article

See all (46) citations in PubMed

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 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 aromatase activity IEA
Inferred from Electronic Annotation
more info
  
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 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_2023_10

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

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