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

Gene ID: 1580, updated on 23-Nov-2021

Summary

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
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]
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

See CYP4B1 in Genome Data Viewer
Location:
1p33
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (46799046..46819413)
105.20201022 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 Sharpr-MPRA regulatory region 7632 Neighboring gene EF-hand calcium binding domain 14 Neighboring gene uncharacterized LOC105378699 Neighboring gene cytochrome P450 family 4 subfamily Z member 2, pseudogene Neighboring gene tubulin alpha pseudogene 8 Neighboring gene cytochrome P450 family 4 subfamily A member 11

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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

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

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_000779.4NP_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)
    AL356793, BM977596, DA380788, X16699
    Consensus CDS
    CCDS542.1
    UniProtKB/Swiss-Prot
    P13584
    Related
    ENSP00000271153.4, ENST00000271153.8
    Conserved Domains (1) summary
    pfam00067
    Location:47500
    p450; Cytochrome P450
  2. NM_001099772.2NP_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)
    AL356793, BC017758, BM977596
    Consensus CDS
    CCDS41328.1
    UniProtKB/Swiss-Prot
    P13584
    Related
    ENSP00000360991.4, ENST00000371923.9
    Conserved Domains (1) summary
    pfam00067
    Location:47501
    p450; Cytochrome P450
  3. NM_001319161.2NP_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, AL356793, AY151049, BM982575, CD013981
    Consensus CDS
    CCDS81318.1
    UniProtKB/TrEMBL
    B4DV41, Q8IZB0
    Related
    ENSP00000360987.4, ENST00000371919.8
    Conserved Domains (1) summary
    pfam00067
    Location:47486
    p450; Cytochrome P450
  4. NM_001319162.2NP_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_001319163.2NP_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_135003.2 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017000466.1XP_016855955.1  cytochrome P450 4B1 isoform X1

  2. XM_011540832.2XP_011539134.1  cytochrome P450 4B1 isoform X2

    Related
    ENSP00000492115.1, ENST00000640628.1
    Conserved Domains (1) summary
    cl12078
    Location:47294
    p450; Cytochrome P450
  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_946559.2 RNA Sequence

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