U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    CYP8B1 cytochrome P450 family 8 subfamily B member 1 [ Homo sapiens (human) ]

    Gene ID: 1582, updated on 27-Nov-2024

    Summary

    Official Symbol
    CYP8B1provided by HGNC
    Official Full Name
    cytochrome P450 family 8 subfamily B member 1provided by HGNC
    Primary source
    HGNC:HGNC:2653
    See related
    Ensembl:ENSG00000180432 MIM:602172; AllianceGenome:HGNC:2653
    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
    CP8B; CYP12; CYPVIIIB1
    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 endoplasmic reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless. [provided by RefSeq, Jul 2008]
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CYP8B1 in Genome Data Viewer
    Location:
    3p22.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (42872192..42875879, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (42887769..42891456, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (42913684..42917371, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene HIG1 hypoxia inducible domain family member 1A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14251 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:42847019-42847816 Neighboring gene MIX23 pseudogene 4 Neighboring gene atypical chemokine receptor 2 Neighboring gene Sharpr-MPRA regulatory region 10622 Neighboring gene uncharacterized LOC124909373 Neighboring gene Sharpr-MPRA regulatory region 4247 Neighboring gene Sharpr-MPRA regulatory region 10602 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:42916634-42916810 Neighboring gene Sharpr-MPRA regulatory region 13936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14252 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:42931092-42931592 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 22 Neighboring gene zinc finger protein 662

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ17826

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 5beta-cholestane-3alpha,7alpha-diol 12alpha-hydroxylase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity TAS
    Traceable Author Statement
    more info
     
    enables heme binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxygen binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables sterol 12-alpha-hydroxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables sterol 12-alpha-hydroxylase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in bile acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bile acid biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in bile acid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in positive regulation of intestinal cholesterol absorption ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to cholesterol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nutrient levels IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sterol metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase
    Names
    7 alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase
    cytochrome P450 8B1
    cytochrome P450, family 8, subfamily B, polypeptide 1
    cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1
    sterol 12-alpha-hydroxylase
    NP_004382.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_007970.1 RefSeqGene

      Range
      5263..8950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004391.3NP_004382.2  7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase

      See identical proteins and their annotated locations for NP_004382.2

      Status: REVIEWED

      Source sequence(s)
      AC099329
      Consensus CDS
      CCDS2707.1
      UniProtKB/Swiss-Prot
      B2RCY3, O75958, Q6NWT2, Q6NWT3, Q9UNU6
      UniProtKB/TrEMBL
      C9JFR9
      Related
      ENSP00000318867.4, ENST00000316161.6
      Conserved Domains (1) summary
      cl12078
      Location:41493
      p450; Cytochrome P450

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      42872192..42875879 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      42887769..42891456 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)