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Aliases for CYP8B1 Gene

Aliases for CYP8B1 Gene

  • Cytochrome P450 Family 8 Subfamily B Member 1 2 3 5
  • Cytochrome P450, Subfamily VIIIB (Sterol 12-Alpha-Hydroxylase), Polypeptide 1 2 3
  • 7-Alpha-Hydroxy-4-Cholesten-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
  • CYP12 3 4
  • 7 Alpha-Hydroxy-4-Cholesten-3-One 12-Alpha-Hydroxylase 3
  • EC 1.14.18.8 4
  • 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 Bile Duct Disease and Biliary Tract Disease. Among its related pathways are Arachidonic acid metabolism and Phase II conjugation. 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 CYP7B1.

UniProtKB/Swiss-Prot for CYP8B1 Gene

  • Involved in bile acid synthesis and is responsible for the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7 alpha, 12 alpha-dihydroxy-4-cholesten-3-one. Responsible for the balance between formation of cholic acid and chenodeoxycholic acid. Has a rather broad substrate specificity including a number of 7-alpha-hydroxylated C27 steroids.

Gene Wiki entry for CYP8B1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP8B1 Gene

Genomics for CYP8B1 Gene

Regulatory Elements for CYP8B1 Gene

Enhancers for CYP8B1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CYP8B1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CYP8B1 Gene

Chromosome:
3
Start:
42,856,005 bp from pter
End:
42,876,165 bp from pter
Size:
20,161 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

Proteomics data for CYP8B1 Gene at MOPED

Post-translational modifications for CYP8B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP8B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CYP8B1 Gene

Domains & Families for CYP8B1 Gene

Gene Families for CYP8B1 Gene

Protein Domains for CYP8B1 Gene

Suggested Antigen Peptide Sequences for CYP8B1 Gene

GenScript: Design optimal peptide antigens:

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

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
UniProtKB/Swiss-Prot CatalyticActivity:
7-alpha-hydroxycholest-4-en-3-one + 2 ferrocytochrome b5 + 2 H(+) + O(2) = 7-alpha,12-alpha-dihydroxycholest-4-en-3-one + 2 ferricytochrome b5 + + H(2)O.
UniProtKB/Swiss-Prot Function:
Involved in bile acid synthesis and is responsible for the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7 alpha, 12 alpha-dihydroxy-4-cholesten-3-one. Responsible for the balance between formation of cholic acid and chenodeoxycholic acid. Has a rather broad substrate specificity including a number of 7-alpha-hydroxylated C27 steroids.

Enzyme Numbers (IUBMB) for CYP8B1 Gene

Gene Ontology (GO) - Molecular Function for CYP8B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008397 sterol 12-alpha-hydroxylase activity TAS 10051404
GO:0019825 oxygen binding TAS 10051404
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:

Animal Model Products

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
Jensen Localization Image for CYP8B1 Gene COMPARTMENTS Subcellular localization image for CYP8B1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
golgi apparatus 2
nucleus 2
lysosome 1
mitochondrion 1
peroxisome 1
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for CYP8B1 Gene

Pathways & Interactions for CYP8B1 Gene

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

Interacting Proteins for CYP8B1 Gene

Gene Ontology (GO) - Biological Process for CYP8B1 Gene

None

No data available for SIGNOR curated interactions for CYP8B1 Gene

Drugs & Compounds for CYP8B1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0

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

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
  • 7 alpha-3ox-C
  • 7 alpha-Hydroxy-4-cholesten-3-one
  • 7-a-Hydroxy-4-cholesten-3-one
  • 7-a-Hydroxycholest-4-en-3-one
  • 7-alpha-Hydroxy-4-cholesten-3-one
3862-25-7
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
genes like me logo Genes that share compounds with CYP8B1: view

Transcripts for CYP8B1 Gene

mRNA/cDNA for CYP8B1 Gene

Unigene Clusters for CYP8B1 Gene

Cytochrome P450, family 8, subfamily B, polypeptide 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for CYP8B1 Gene

GeneLoc Exon Structure for
CYP8B1
ECgene alternative splicing isoforms for
CYP8B1

Expression for CYP8B1 Gene

mRNA expression in normal human tissues for CYP8B1 Gene

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, PaxDb, and MOPED for CYP8B1 Gene



SOURCE GeneReport for Unigene cluster for CYP8B1 Gene Hs.447793

mRNA Expression by UniProt/SwissProt for CYP8B1 Gene

Q9UNU6-CP8B1_HUMAN
Tissue specificity: Liver.
genes like me logo Genes that share expression patterns with CYP8B1: view

Protein tissue co-expression partners for CYP8B1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
dog
(Canis familiaris)
Mammalia LOC485619 35
  • 83.57 (n)
  • 80.84 (a)
CYP8B1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp8b1 35
  • 79 (n)
  • 75 (a)
Cyp8b1 16
Cyp8b1 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC736962 35
  • 99.53 (n)
  • 98.8 (a)
CYP8B1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp8b1 35
  • 79.56 (n)
  • 74.55 (a)
cow
(Bos Taurus)
Mammalia CYP8B1 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 46 (a)
OneToMany
-- 36
  • 47 (a)
OneToMany
chicken
(Gallus gallus)
Aves CYP8B1 35
  • 59.39 (n)
  • 54.55 (a)
lizard
(Anolis carolinensis)
Reptilia CYP8B1 36
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488168 35
  • 59.57 (n)
  • 56.02 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC64456 35
zebrafish
(Danio rerio)
Actinopterygii cyp8b1 35
  • 58.74 (n)
  • 52.87 (a)
wufk74d09 35
cyp8b1 36
  • 50 (a)
OneToMany
cyp8b2 36
  • 49 (a)
OneToMany
cyp8b3 36
  • 50 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1855 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
ManyToMany
CSA.4049 36
  • 33 (a)
ManyToMany
Species with no ortholog for CYP8B1:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CYP8B1 Gene

Paralogs for CYP8B1 Gene

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

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

Variants for CYP8B1 Gene

Sequence variations from dbSNP and Humsavar for CYP8B1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_010381 -
rs9865715 - 42,875,555(+) GATGG(A/C/G)GCCAA reference, missense
rs35764459 - 42,875,104(+) GCATC(C/T)TGTGA reference, missense
rs35637877 - 42,874,748(+) CCTGA(A/G)GAGGG reference, missense
rs734969 -- 42,876,414(+) GCTGT(C/T)GTGAG upstream-variant-2KB

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)

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

Disorders for CYP8B1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CYP8B1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bile duct disease
  • bile duct disorder nos
biliary tract disease
  • biliary tract diseases
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CYP8B1

Genetic Association Database (GAD)
CYP8B1
Human Genome Epidemiology (HuGE) Navigator
CYP8B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYP8B1
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) Gaafvels M. … Eggertsen G. (Genomics 1999) 2 3 4 23 67
  2. Human and murine hepatic sterol-12-alpha-hydroxylase and other xenobiotic metabolism mRNA are upregulated by soy isoflavones. (PMID: 17585019) Li Y. … Shay N.F. (J. Nutr. 2007) 3 23
  3. Suppression of bile acid synthesis by thyroid hormone in primary human hepatocytes. (PMID: 16937432) Ellis E.C. (World J. Gastroenterol. 2006) 3 23
  4. Transcriptional regulation of the human sterol 12alpha-hydroxylase gene (CYP8B1): roles of heaptocyte nuclear factor 4alpha in mediating bile acid repression. (PMID: 11535594) Zhang M. … Chiang J.Y. (J. Biol. Chem. 2001) 3 23
  5. Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. (PMID: 25187353) Goldstein J.I. … Sullivan P.F. (Nat Commun 2014) 3

Products for CYP8B1 Gene

Sources for CYP8B1 Gene

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