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

Gene ID: 1582, updated on 13-Mar-2020

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
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
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

Genomic context

See CYP8B1 in Genome Data Viewer
Location:
3p22.1
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (42872192..42875879, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (42913684..42917633, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene HIG1 hypoxia inducible domain family member 1A Neighboring gene coiled-coil domain containing 58 pseudogene 4 Neighboring gene atypical chemokine receptor 2 Neighboring gene Sharpr-MPRA regulatory region 10622 Neighboring gene Sharpr-MPRA regulatory region 13936 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 22

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ17826

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heme binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
oxygen binding TAS
Traceable Author Statement
more info
PubMed 
sterol 12-alpha-hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
sterol metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
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
CYPVIIIB1
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)

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
    Q9UNU6
    Related
    ENSP00000318867.4, ENST00000316161.6
    Conserved Domains (1) summary
    cl12078
    Location:41493
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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