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Aliases for CYP7B1 Gene

Aliases for CYP7B1 Gene

  • Cytochrome P450, Family 7, Subfamily B, Polypeptide 1 2 3
  • Cytochrome P450, Subfamily VIIB (Oxysterol 7 Alpha-Hydroxylase), Polypeptide 1 2 3
  • Oxysterol 7-Alpha-Hydroxylase 3 4
  • Cytochrome P450 7B1 3 4
  • CBAS3 3 6
  • SPG5A 3 6
  • Spastic Paraplegia 5A (Autosomal Recessive) 2
  • 25-Hydroxycholesterol 7-Alpha-Hydroxylase 3
  • Oxysterol 7alpha-Hydroxylase 3
  • EC 4
  • CP7B 3

External Ids for CYP7B1 Gene

Previous HGNC Symbols for CYP7B1 Gene

  • SPG5A

Previous GeneCards Identifiers for CYP7B1 Gene

  • GC08M064752
  • GC08M065448
  • GC08M065223
  • GC08M065558
  • GC08M065671
  • GC08M060998
  • GC08M065500

Summaries for CYP7B1 Gene

Entrez Gene Summary for CYP7B1 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 first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. [provided by RefSeq, Jul 2008]

GeneCards Summary for CYP7B1 Gene

CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1) is a Protein Coding gene. Diseases associated with CYP7B1 include bile acid synthesis defect, congenital, 3 and spastic paraplegia 5a, autosomal recessive. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP8B1.

Gene Wiki entry for CYP7B1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP7B1 Gene

Genomics for CYP7B1 Gene

Regulatory Elements for CYP7B1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CYP7B1 Gene

64,587,763 bp from pter
64,798,791 bp from pter
211,029 bases
Minus strand

Genomic View for CYP7B1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CYP7B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP7B1 Gene

Proteins for CYP7B1 Gene

  • Protein details for CYP7B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    25-hydroxycholesterol 7-alpha-hydroxylase
    Protein Accession:
    Secondary Accessions:
    • B2RN07
    • Q9UNF5

    Protein attributes for CYP7B1 Gene

    506 amino acids
    Molecular mass:
    58256 Da
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

neXtProt entry for CYP7B1 Gene

Proteomics data for CYP7B1 Gene at MOPED

Post-translational modifications for CYP7B1 Gene

  • Ubiquitination at Lys218 and Lys256
  • Modification sites at PhosphoSitePlus

Other Protein References for CYP7B1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CYP7B1 Gene

Domains for CYP7B1 Gene

Gene Families for CYP7B1 Gene

Protein Domains for CYP7B1 Gene

Suggested Antigen Peptide Sequences for CYP7B1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cytochrome P450 family.
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP7B1: view

Function for CYP7B1 Gene

Molecular function for CYP7B1 Gene

GENATLAS Biochemistry:
cytochrome p450,subfamily VIIB (oxysterol 7 alpha hydroxylase),polypeptide 1,microsomal,component of the acidic pathway of primary bile acids synthesis,closely linked to CYP7A1
UniProtKB/Swiss-Prot CatalyticActivity:
Cholest-5-ene-3-beta,25-diol + NADPH + O(2) = cholest-5-ene-3-beta,7-alpha,25-triol + NADP(+) + H(2)O
UniProtKB/Swiss-Prot CatalyticActivity:
(25R)-cholest-5-ene-3-beta,26-diol + NADPH + O(2) = (25R)-cholest-5-ene-3-beta,7-alpha,26-triol + NADP(+) + H(2)O

Enzyme Numbers (IUBMB) for CYP7B1 Gene

Gene Ontology (GO) - Molecular Function for CYP7B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0008396 oxysterol 7-alpha-hydroxylase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
GO:0020037 heme binding IEA --
GO:0033783 25-hydroxycholesterol 7alpha-hydroxylase activity IEA --
genes like me logo Genes that share ontologies with CYP7B1: view
genes like me logo Genes that share phenotypes with CYP7B1: view

Animal Models for CYP7B1 Gene

MGI Knock Outs for CYP7B1:

Animal Model Products

miRNA for CYP7B1 Gene

miRTarBase miRNAs that target CYP7B1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYP7B1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for CYP7B1 Gene

Localization for CYP7B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP7B1 Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.

Subcellular locations from

Jensen Localization Image for CYP7B1 Gene COMPARTMENTS Subcellular localization image for CYP7B1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 2
cytosol 1
extracellular 1
lysosome 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CYP7B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with CYP7B1: view

Pathways for CYP7B1 Gene

genes like me logo Genes that share pathways with CYP7B1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot O75881-CP7B1_HUMAN

  • Pathway: Lipid metabolism; bile acid biosynthesis

Interacting Proteins for CYP7B1 Gene

Gene Ontology (GO) - Biological Process for CYP7B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006699 bile acid biosynthetic process TAS --
GO:0006805 xenobiotic metabolic process TAS --
GO:0008203 cholesterol metabolic process IEA --
GO:0008206 bile acid metabolic process TAS --
GO:0008219 cell death --
genes like me logo Genes that share ontologies with CYP7B1: view

Drugs for CYP7B1 Gene

(17) HMDB Compounds for CYP7B1 Gene

Compound Synonyms Cas Number PubMed IDs
  • (beta)-cholest-5-ene-3-25-diol
  • (25R)-26-Hydroxycholesterol
3 beta,7 alpha-Dihydroxy-5-cholestenoate
  • (3beta,7alpha)-3,7-dihydroxy-Cholest-5-en-26-oate
3 beta-Hydroxy-5-cholestenoate
  • (3beta)-3-hydroxy-Cholest-5-en-26-oate
  • 7-a,25-Dihydroxycholesterol

(9) Novoseek inferred chemical compound relationships for CYP7B1 Gene

Compound -log(P) Hits PubMed IDs
5alpha-androstane-3alpha,17beta-diol 86.2 3
27-hydroxycholesterol 85 1
25-hydroxycholesterol 73.6 2
dhea 72.8 9
steroid 50.4 1
genes like me logo Genes that share compounds with CYP7B1: view

Transcripts for CYP7B1 Gene

mRNA/cDNA for CYP7B1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CYP7B1 Gene

Cytochrome P450, family 7, subfamily B, polypeptide 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYP7B1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP7B1 Gene

No ASD Table

Relevant External Links for CYP7B1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CYP7B1 Gene

mRNA expression in normal human tissues for CYP7B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for CYP7B1 Gene

This gene is overexpressed in Liver (12.9), Stomach (10.5), Spleen (8.5), and Tlymphocyte (7.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CYP7B1 Gene

SOURCE GeneReport for Unigene cluster for CYP7B1 Gene Hs.667720

mRNA Expression by UniProt/SwissProt for CYP7B1 Gene

Tissue specificity: Brain, testis, ovary, prostate, liver, colon, kidney, and small intestine
genes like me logo Genes that share expressions with CYP7B1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Expression partners for CYP7B1 Gene

Orthologs for CYP7B1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CYP7B1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CYP7B1 35
  • 81.3 (n)
  • 71.66 (a)
CYP7B1 36
  • 71 (a)
(Canis familiaris)
Mammalia CYP7B1 35
  • 84.02 (n)
  • 74.59 (a)
CYP7B1 36
  • 73 (a)
(Mus musculus)
Mammalia Cyp7b1 35
  • 76.88 (n)
  • 67.23 (a)
Cyp7b1 16
Cyp7b1 36
  • 65 (a)
(Pan troglodytes)
Mammalia CYP7B1 35
  • 99.6 (n)
  • 99.41 (a)
CYP7B1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Cyp7b1 35
  • 76.38 (n)
  • 66.6 (a)
(Monodelphis domestica)
Mammalia CYP7B1 36
  • 53 (a)
(Ornithorhynchus anatinus)
Mammalia CYP7B1 36
  • 51 (a)
(Gallus gallus)
Aves CYP7B1 35
  • 65.81 (n)
  • 53.76 (a)
CYP7B1 36
  • 53 (a)
(Anolis carolinensis)
Reptilia CYP7B1 36
  • 47 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp7b1 35
  • 63.11 (n)
  • 52.99 (a)
(Danio rerio)
Actinopterygii LOC570455 35
  • 53.28 (n)
  • 43.84 (a)
cyp7c1 36
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
CSA.4049 36
  • 36 (a)
Species with no ortholog for CYP7B1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 CYP7B1 Gene

Gene Tree for CYP7B1 (if available)
Gene Tree for CYP7B1 (if available)

Paralogs for CYP7B1 Gene

Paralogs for CYP7B1 Gene

(5) SIMAP similar genes for CYP7B1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CYP7B1: view

Variants for CYP7B1 Gene

Sequence variations from dbSNP and Humsavar for CYP7B1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs716283 -- 64,707,409(-) ATAAA(A/C)CCCCC intron-variant
rs1007219 -- 64,664,229(+) AGATC(A/G)GACCT intron-variant
rs1986181 -- 64,674,671(+) AATAC(A/C)CCGTA intron-variant
rs2356981 -- 64,714,068(-) attga(C/G)catgc intron-variant
rs2356982 -- 64,714,006(-) caaga(A/G)atctt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CYP7B1 Gene

Variant ID Type Subtype PubMed ID
nsv6231 CNV Loss 18451855
esv1348104 CNV Deletion 17803354
esv1348944 CNV Deletion 17803354

Relevant External Links for CYP7B1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP7B1 Gene

Disorders for CYP7B1 Gene

(2) OMIM Diseases for CYP7B1 Gene (603711)


  • Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:18252231}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Congenital bile acid synthesis defect 3 (CBAS3) [MIM:613812]: A disorder resulting in severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable. {ECO:0000269 PubMed:9802883}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for CYP7B1 Gene

(2) Novoseek inferred disease relationships for CYP7B1 Gene

Disease -log(P) Hits PubMed IDs
prostate cancer 15.7 4
tumors 0 1

Genatlas disease for CYP7B1 Gene

severe cholestasis with neonatal cirrhosis and liver synthetic failure with extremely high levels of 27-hydroxycholesterol

Relevant External Links for CYP7B1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with CYP7B1: view

Publications for CYP7B1 Gene

  1. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. (PMID: 18252231) Tsaousidou M.K. … Crosby A.H. (Am. J. Hum. Genet. 2008) 2 3 4 23
  2. A functional C-G polymorphism in the CYP7B1 promoter region and its different distribution in Orientals and Caucasians. (PMID: 15007371) Jakobsson J. … EkstrAPm L. (Pharmacogenomics J. 2004) 3 23 48
  3. Structure and functions of human oxysterol 7alpha-hydroxylase cDNAs and gene CYP7B1. (PMID: 10588945) Wu Z.L. … Chiang J.Y.L. (J. Lipid Res. 1999) 3 4 23
  4. Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7-alpha-hydroxylase gene causes severe neonatal liver disease. (PMID: 9802883) Setchell K.D.R. … Russell D.W. (J. Clin. Invest. 1998) 2 3 4
  5. Dehydroepiandrosterone 7alpha-hydroxylation in human tissues: possible interference with type 1 11beta-hydroxysteroid dehydrogenase-mediated processes. (PMID: 17467270) Hennebert O. … Morfin R. (J. Steroid Biochem. Mol. Biol. 2007) 3 23 26

Products for CYP7B1 Gene

Sources for CYP7B1 Gene

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