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

Gene ID: 1580, updated on 6-Sep-2017
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; Vega:OTTHUMG00000007984
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]
Orthologs
Location:
1p33
Exon count:
12
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (46798995..46819349)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47264670..47285021)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene activator of 90 kDa heat shock protein ATPase homolog 2-like Neighboring gene uncharacterized LOC105378699 Neighboring gene cytochrome P450 family 4 subfamily Z member 2, pseudogene Neighboring gene tubulin alpha 1c pseudogene Neighboring gene cytochrome P450 family 4 subfamily A member 11

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
NHGRI GWA Catalog
  • Arachidonic acid metabolism, organism-specific biosystem (from REACTOME)
    Arachidonic acid metabolism, organism-specific biosystemEicosanoids, oxygenated, 20-carbon fatty acids, are autocrine and paracrine signaling molecules that modulate physiological processes including pain, fever, inflammation, blood clot formation, smooth...
  • Biological oxidations, organism-specific biosystem (from REACTOME)
    Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
  • Cytochrome P450 - arranged by substrate type, organism-specific biosystem (from REACTOME)
    Cytochrome P450 - arranged by substrate type, organism-specific biosystemThe P450 isozyme system is the major phase 1 biotransforming system in man, accounting for more than 90% of drug biotransformations. This system has huge catalytic versatility and a broad substrate s...
  • Eicosanoids, organism-specific biosystem (from REACTOME)
    Eicosanoids, organism-specific biosystemArachidonic acid is metabolized via three major enzymatic pathways: cyclooxygenase, lipoxygenase, and cytochrome P450. The cytochrome P450 pathway metabolites are oxygenated metabolites of arachidoni...
  • Fatty acids, organism-specific biosystem (from REACTOME)
    Fatty acids, organism-specific biosystemThe CYP4 family are the main CYPs involved in the metabolism of long-chain fatty acids.
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Metapathway biotransformation, organism-specific biosystem (from WikiPathways)
    Metapathway biotransformation, organism-specific biosystem
    Metapathway biotransformation
  • Miscellaneous substrates, organism-specific biosystem (from REACTOME)
    Miscellaneous substrates, organism-specific biosystemApproximately a quarter of the 57 human CYPs still remain "orphans" in the sense that their function, expression sites, and regulation are largely not elucidated. While there is enough experimental e...
  • Nuclear Receptors in Lipid Metabolism and Toxicity, organism-specific biosystem (from WikiPathways)
    Nuclear Receptors in Lipid Metabolism and Toxicity, organism-specific biosystemNuclear receptors are transcription factors that are activated upon binding to its ligands. Initially, they had been classified as classic endocrine nuclear hormone receptors and orphan receptors. Ho...
  • Oxidation by Cytochrome P450, organism-specific biosystem (from WikiPathways)
    Oxidation by Cytochrome P450, organism-specific biosystemOxidation of a substrate by Cytochrome P450. Adapted from Niesink et al., Chapter 3, p. 47-48.
  • Phase 1 - Functionalization of compounds, organism-specific biosystem (from REACTOME)
    Phase 1 - Functionalization of compounds, organism-specific biosystemPhase 1 of metabolism is concerned with functionalization, that is the introduction or exposure of functional groups on the chemical structure of a compound. This provides a 'handle' for phase 2 conj...
  • Synthesis of Leukotrienes (LT) and Eoxins (EX), organism-specific biosystem (from REACTOME)
    Synthesis of Leukotrienes (LT) and Eoxins (EX), organism-specific biosystemLeukotrienes (LTs) are biologically active molecules formed in response to inflammatory stimuli. They cause contraction of bronchial smooth muscles, stimulation of vascular permeability, and attracti...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aromatase activity IEA
Inferred from Electronic Annotation
more info
 
drug binding IEA
Inferred from Electronic Annotation
more info
 
fluorene oxygenase activity IEA
Inferred from Electronic Annotation
more info
 
heme binding IEA
Inferred from Electronic Annotation
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
oxygen binding TAS
Traceable Author Statement
more info
 
toxic substance binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
biphenyl metabolic process IEA
Inferred from Electronic Annotation
more info
 
exogenous drug catabolic process IEA
Inferred from Electronic Annotation
more info
 
fluorene metabolic process IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
organelle membrane IEA
Inferred from Electronic Annotation
more info
 
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
XP_011539134.1
XP_011539135.1
XP_016855955.1

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
    5001..25352
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000779.3NP_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) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is 1 aa shorter compared to isoform a.
    Source sequence(s)
    BM977596, DA380788, X16699
    Consensus CDS
    CCDS542.1
    UniProtKB/Swiss-Prot
    P13584
    Related
    ENSP00000271153.4, OTTHUMP00000009678, ENST00000271153.8, OTTHUMT00000021911
    Conserved Domains (1) summary
    pfam00067
    Location:47500
    p450; Cytochrome P450
  2. NM_001099772.1NP_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) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    BC017758, BM977596, DA380788
    Consensus CDS
    CCDS41328.1
    UniProtKB/Swiss-Prot
    P13584
    Related
    ENSP00000360991.4, OTTHUMP00000009679, ENST00000371923.8, OTTHUMT00000021912
    Conserved Domains (1) summary
    pfam00067
    Location:47501
    p450; Cytochrome P450
  3. NM_001319161.1NP_001306090.1  cytochrome P450 4B1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AK300921, AY151049, BM982575, CD013981
    Consensus CDS
    CCDS81318.1
    UniProtKB/TrEMBL
    B4DV41, Q8IZB0
    Related
    ENSP00000360987.4, OTTHUMP00000009680, ENST00000371919.8, OTTHUMT00000021913
    Conserved Domains (1) summary
    pfam00067
    Location:47486
    p450; Cytochrome P450
  4. NM_001319162.1NP_001306091.1  cytochrome P450 4B1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate exons compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AK300921, AL356793, BM982575, CD013981, DC358497
    UniProtKB/TrEMBL
    B4DV41
    Conserved Domains (1) summary
    pfam00067
    Location:1338
    p450; Cytochrome P450
  5. NM_001319163.1NP_001306092.1  cytochrome P450 4B1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two alternate exons and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (e) is shorter at the N-terminus and lacks an internal aa compared to isoform a.
    Source sequence(s)
    AK300921, AL356793, BM982575, CD013981
    UniProtKB/TrEMBL
    B4DV41
    Conserved Domains (1) summary
    pfam00067
    Location:1337
    p450; Cytochrome P450

RNA

  1. NR_135003.1 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, BM982575, CD013981
    Related
    ENST00000464439.6, OTTHUMT00000091328

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

    Range
    46798995..46819349
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540832.1XP_011539134.1  cytochrome P450 4B1 isoform X2

    Related
    ENSP00000492115.1, ENST00000640628.1
    Conserved Domains (1) summary
    cl12078
    Location:47294
    p450; Cytochrome P450
  2. XM_017000466.1XP_016855955.1  cytochrome P450 4B1 isoform X1

  3. XM_011540833.1XP_011539135.1  cytochrome P450 4B1 isoform X3

    See identical proteins and their annotated locations for XP_011539135.1

    Conserved Domains (1) summary
    pfam00067
    Location:62267
    p450; Cytochrome P450

RNA

  1. XR_946559.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    47381383..47401714
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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