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-cho... See more...

Aliases for CYP8B1 Gene

Aliases for CYP8B1 Gene

  • Cytochrome P450 Family 8 Subfamily B Member 1 2 3 5
  • CYP12 2 3 4
  • Cytochrome P450, Subfamily VIIIB (Sterol 12-Alpha-Hydroxylase), Polypeptide 1 2 3
  • 7-Alpha-Hydroxycholest-4-En-3-One 12-Alpha-Hydroxylase 3 4
  • Cytochrome P450, Family 8, Subfamily B, Polypeptide 1 2 3
  • Sterol 12-Alpha-Hydroxylase 3 4
  • Cytochrome P450 8B1 3 4
  • CYPVIIIB1 3 4
  • 7 Alpha-Hydroxy-4-Cholesten-3-One 12-Alpha-Hydroxylase 3
  • 7-Alpha-Hydroxy-4-Cholesten-3-One 12-Alpha-Hydroxylase 4
  • EC 1.14.18.8 4
  • CYP8B1 5
  • CP8B 3

External Ids for CYP8B1 Gene

Previous GeneCards Identifiers for CYP8B1 Gene

  • GC03M042218
  • GC03M042094
  • GC03M042732
  • GC03M042874
  • GC03M042888

Summaries for CYP8B1 Gene

Entrez Gene Summary for CYP8B1 Gene

  • 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]

GeneCards Summary for CYP8B1 Gene

CYP8B1 (Cytochrome P450 Family 8 Subfamily B Member 1) is a Protein Coding gene. Diseases associated with CYP8B1 include Heart Defects, Congenital, And Other Congenital Anomalies and Cholestasis, Progressive Familial Intrahepatic, 2. Among its related pathways are Farnesoid X Receptor Pathway and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is PTGIS.

UniProtKB/Swiss-Prot Summary for CYP8B1 Gene

  • A cytochrome P450 monooxygenase involved in primary bile acid biosynthesis. Catalyzes the 12alpha-hydroxylation of 7alpha-hydroxy-4-cholesten-3-one, an intermediate metabolite in cholic acid biosynthesis (PubMed:10051404). Controls biliary balance of cholic acid and chenodeoxycholic acid, ultimately regulating the intestinal absorption of dietary lipids (By similarity). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH--hemoprotein reductase) (By similarity).

Gene Wiki entry for CYP8B1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYP8B1 Gene

Genomics for CYP8B1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYP8B1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP8B1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYP8B1

Top Transcription factor binding sites by QIAGEN in the CYP8B1 gene promoter:
  • AP-1
  • ARP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • HEN1
  • Pax-2a
  • Pax-2b

Genomic Locations for CYP8B1 Gene

Latest Assembly
chr3:42,856,005-42,875,898
(GRCh38/hg38)
Size:
19,894 bases
Orientation:
Minus strand

Previous Assembly
chr3:42,913,684-42,917,371
(GRCh37/hg19 by Entrez Gene)
Size:
3,688 bases
Orientation:
Minus strand

chr3:42,897,497-42,917,633
(GRCh37/hg19 by Ensembl)
Size:
20,137 bases
Orientation:
Minus strand

Genomic View for CYP8B1 Gene

Genes around CYP8B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP8B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP8B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP8B1 Gene

Proteins for CYP8B1 Gene

  • Protein details for CYP8B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNU6-CP8B1_HUMAN
    Recommended name:
    7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase
    Protein Accession:
    Q9UNU6
    Secondary Accessions:
    • B2RCY3
    • O75958
    • Q6NWT2
    • Q6NWT3

    Protein attributes for CYP8B1 Gene

    Size:
    501 amino acids
    Molecular mass:
    58068 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

neXtProt entry for CYP8B1 Gene

Post-translational modifications for CYP8B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP8B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for CYP8B1

No data available for DME Specific Peptides for CYP8B1 Gene

Domains & Families for CYP8B1 Gene

Gene Families for CYP8B1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CYP8B1 Gene

InterPro:
Blocks:
  • E-class P450 group IV signature

Suggested Antigen Peptide Sequences for CYP8B1 Gene

GenScript: Design optimal peptide antigens:
  • Sterol 12-alpha-hydroxylase (CP8B1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UNU6

UniProtKB/Swiss-Prot:

CP8B1_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP8B1: view

Function for CYP8B1 Gene

Molecular function for CYP8B1 Gene

UniProtKB/Swiss-Prot Function:
A cytochrome P450 monooxygenase involved in primary bile acid biosynthesis. Catalyzes the 12alpha-hydroxylation of 7alpha-hydroxy-4-cholesten-3-one, an intermediate metabolite in cholic acid biosynthesis (PubMed:10051404). Controls biliary balance of cholic acid and chenodeoxycholic acid, ultimately regulating the intestinal absorption of dietary lipids (By similarity). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH--hemoprotein reductase) (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=7alpha-hydroxycholest-4-en-3-one + O2 + reduced [NADPH--hemoprotein reductase] = 7alpha,12alpha-dihydroxycholest-4-en-3-one + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:46752, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17899, ChEBI:CHEBI:28477, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; EC=1.14.18.8; Evidence={ECO:0000269|PubMed:10051404};.
GENATLAS Biochemistry:
cytochrome P450 subfamily VIIIB polypeptide 1,hepatic microsomal enzyme,involved in bile synthesis,controlling the ratio of cholic acid over chenodeoxycholic cholic acid in bile

Enzyme Numbers (IUBMB) for CYP8B1 Gene

Phenotypes From GWAS Catalog for CYP8B1 Gene

Gene Ontology (GO) - Molecular Function for CYP8B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0005506 iron ion binding IEA --
GO:0008397 sterol 12-alpha-hydroxylase activity IBA,ISS --
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
genes like me logo Genes that share ontologies with CYP8B1: view
genes like me logo Genes that share phenotypes with CYP8B1: view

Animal Models for CYP8B1 Gene

MGI Knock Outs for CYP8B1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP8B1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CYP8B1 Gene

Localization for CYP8B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP8B1 Gene

Endoplasmic reticulum membrane. Single-pass membrane protein. Microsome membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP8B1 gene
Compartment Confidence
extracellular 3
plasma membrane 2
mitochondrion 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
golgi apparatus 2
cytoskeleton 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CYP8B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031090 organelle membrane IEA --
genes like me logo Genes that share ontologies with CYP8B1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP8B1 Gene

Pathways & Interactions for CYP8B1 Gene

genes like me logo Genes that share pathways with CYP8B1: view

UniProtKB/Swiss-Prot Q9UNU6-CP8B1_HUMAN

  • Pathway: Lipid metabolism; bile acid biosynthesis.

Gene Ontology (GO) - Biological Process for CYP8B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006699 bile acid biosynthetic process ISS,TAS --
GO:0016125 sterol metabolic process TAS --
GO:0031667 response to nutrient levels IEA --
GO:0038183 bile acid signaling pathway IEA --
GO:0045797 positive regulation of intestinal cholesterol absorption ISS --
genes like me logo Genes that share ontologies with CYP8B1: view

No data available for SIGNOR curated interactions for CYP8B1 Gene

Drugs & Compounds for CYP8B1 Gene

(8) Drugs for CYP8B1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
NADP Experimental Pharma 0
NADPH Experimental Pharma 0
heme Pharma 0

(4) Additional Compounds for CYP8B1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
7a,12a-Dihydroxy-cholestene-3-one
  • 7-a,12-a-Dihydroxy-4-cholesten-3-one
  • 7-a,12-a-Dihydroxycholest-4-en-3-one
  • 7-a,12-alpha-Dihydroxy-4-cholesten-3-one
  • 7-a,12-alpha-Dihydroxycholest-4-en-3-one
  • 7-alpha,12-alpha-Dihydroxy-4-cholesten-3-one
7a-Hydroxy-cholestene-3-one
  • 7alpha-Hydroxy-4-cholesten-3-one
  • Cholest-4-en-7alpha-ol-3-one
  • 7a-Hydroxy-4-cholesten-3-one
  • 7Α-hydroxy-4-cholesten-3-one
  • Cholest-4-en-7a-ol-3-one
3862-25-7
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
genes like me logo Genes that share compounds with CYP8B1: view

Transcripts for CYP8B1 Gene

mRNA/cDNA for CYP8B1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP8B1

Alternative Splicing Database (ASD) splice patterns (SP) for CYP8B1 Gene

No ASD Table

Relevant External Links for CYP8B1 Gene

GeneLoc Exon Structure for
CYP8B1

Expression for CYP8B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYP8B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP8B1 Gene

This gene is overexpressed in Liver (x50.5).

Protein differential expression in normal tissues from HIPED for CYP8B1 Gene

This gene is overexpressed in Gallbladder (50.4) and Liver (16.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CYP8B1 Gene



Protein tissue co-expression partners for CYP8B1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYP8B1

SOURCE GeneReport for Unigene cluster for CYP8B1 Gene:

Hs.447793

mRNA Expression by UniProt/SwissProt for CYP8B1 Gene:

Q9UNU6-CP8B1_HUMAN
Tissue specificity: Liver.

Evidence on tissue expression from TISSUES for CYP8B1 Gene

  • Liver(4.8)
  • Gall bladder(2.4)
  • Intestine(2.4)
  • Kidney(2.2)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with CYP8B1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP8B1 Gene

Orthologs for CYP8B1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CYP8B1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC736962 29
  • 99.53 (n)
CYP8B1 30
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC485619 29
  • 83.57 (n)
CYP8B1 30
  • 81 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cyp8b1 29
  • 79.56 (n)
Mouse
(Mus musculus)
Mammalia Cyp8b1 29 16 30
  • 79 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CYP8B1 30
  • 77 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 47 (a)
OneToMany
-- 30
  • 46 (a)
OneToMany
Chicken
(Gallus gallus)
Aves CYP8B1 29
  • 59.39 (n)
Lizard
(Anolis carolinensis)
Reptilia CYP8B1 30
  • 48 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100488168 29
  • 59.57 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC64456 29
Zebrafish
(Danio rerio)
Actinopterygii cyp8b1 29 30
  • 58.74 (n)
OneToMany
cyp8b3 30
  • 50 (a)
OneToMany
cyp8b2 30
  • 49 (a)
OneToMany
wufk74d09 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1855 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4049 30
  • 33 (a)
ManyToMany
-- 30
  • 29 (a)
ManyToMany
Species where no ortholog for CYP8B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CYP8B1 Gene

ENSEMBL:
Gene Tree for CYP8B1 (if available)
TreeFam:
Gene Tree for CYP8B1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYP8B1: view image
Alliance of Genome Resources:
Additional Orthologs for CYP8B1

Paralogs for CYP8B1 Gene

Paralogs for CYP8B1 Gene

(4) SIMAP similar genes for CYP8B1 Gene using alignment to 2 proteins:

  • CP8B1_HUMAN
  • C9JFR9_HUMAN
genes like me logo Genes that share paralogs with CYP8B1: view

Variants for CYP8B1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYP8B1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs112066175 Benign: not provided 42,874,613(-) C/T
NM_004391.3(CYP8B1):c.1204G>A (p.Val402Ile)
MISSENSE
rs35637877 Benign: not provided 42,874,748(-) G/Ap.Leu357Phe
NM_004391.3(CYP8B1):c.1069C>T (p.Leu357Phe)
MISSENSE
rs35764459 Benign: not provided 42,875,104(-) T/Cp.Lys238Arg
NM_004391.3(CYP8B1):c.713A>G (p.Lys238Arg)
MISSENSE
rs61747186 Benign: not provided 42,874,746(-) G/A
NM_004391.3(CYP8B1):c.1071C>T (p.Leu357=)
SYNONYMOUS
rs741817 Benign: not provided 42,875,019(-) C/A
NM_004391.3(CYP8B1):c.798G>T (p.Gly266=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CYP8B1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for CYP8B1 Gene

Residual Variation Intolerance Score: 61.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.62; 45.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYP8B1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP8B1
Leiden Open Variation Database (LOVD)
CYP8B1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CYP8B1 Gene

Disorders for CYP8B1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for CYP8B1 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CYP8B1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CYP8B1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYP8B1 Gene

Publications for CYP8B1 Gene

  1. Structure and chromosomal assignment of the sterol 12alpha-hydroxylase gene (CYP8B1) in human and mouse: eukaryotic cytochrome P-450 gene devoid of introns. (PMID: 10051404) Gåfvels M … Eggertsen G (Genomics 1999) 2 3 4 22
  2. Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. (PMID: 19898482) Ross CJ … CPNDS Consortium (Nature genetics 2009) 3 40
  3. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) 3 40
  4. Human and murine hepatic sterol-12-alpha-hydroxylase and other xenobiotic metabolism mRNA are upregulated by soy isoflavones. (PMID: 17585019) Li Y … Shay NF (The Journal of nutrition 2007) 3 22
  5. Suppression of bile acid synthesis by thyroid hormone in primary human hepatocytes. (PMID: 16937432) Ellis EC (World journal of gastroenterology 2006) 3 22

Products for CYP8B1 Gene

Sources for CYP8B1 Gene