Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CYP27A1 Gene

Aliases for CYP27A1 Gene

  • Cytochrome P450 Family 27 Subfamily A Member 1 2 3 5
  • Cytochrome P450, Subfamily XXVIIA (Steroid 27-Hydroxylase, Cerebrotendinous Xanthomatosis), Polypeptide 1 2 3
  • 5-Beta-Cholestane-3-Alpha,7-Alpha,12-Alpha-Triol 27-Hydroxylase 3 4
  • Cytochrome P450, Family 27, Subfamily A, Polypeptide 1 2 3
  • Vitamin D(3) 25-Hydroxylase 3 4
  • Cytochrome P-450C27/25 3 4
  • Sterol 27-Hydroxylase 3 4
  • Cytochrome P450 27 3 4
  • CYP27 3 4
  • 5-Beta-Cholestane-3-Alpha, 7-Alpha, 12-Alpha-Triol 26-Hydroxylase 3
  • 5-Beta-Cholestane-3-Alpha, 7-Alpha, 12-Alpha-Triol 27-Hydroxylase 3
  • Cholestanetriol 26-Monooxygenase 3
  • Cerebrotendinous Xanthomatosis 2
  • EC 4
  • CP27 3
  • CTX 3

External Ids for CYP27A1 Gene

Previous HGNC Symbols for CYP27A1 Gene

  • CYP27

Previous GeneCards Identifiers for CYP27A1 Gene

  • GC02P217662
  • GC02P218367
  • GC02P219610
  • GC02P219849
  • GC02P219472
  • GC02P219354
  • GC02P211499
  • GC02P219646

Summaries for CYP27A1 Gene

Entrez Gene Summary for CYP27A1 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 mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]

GeneCards Summary for CYP27A1 Gene

CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP27A1 include Cerebrotendinous Xanthomatosis and Xanthomatosis. Among its related pathways are Vitamin D synthesis 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 CYP11B1.

UniProtKB/Swiss-Prot for CYP27A1 Gene

  • Catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol. Has also a vitamin D3-25-hydroxylase activity.

Gene Wiki entry for CYP27A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP27A1 Gene

Genomics for CYP27A1 Gene

Regulatory Elements for CYP27A1 Gene

Enhancers for CYP27A1 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 CYP27A1 on UCSC Golden Path with GeneCards custom track

Promoters for CYP27A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CYP27A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CYP27A1 Gene

218,781,749 bp from pter
218,815,293 bp from pter
33,545 bases
Plus strand

Genomic View for CYP27A1 Gene

Genes around CYP27A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP27A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP27A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP27A1 Gene

Proteins for CYP27A1 Gene

  • Protein details for CYP27A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Sterol 26-hydroxylase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • A8K303
    • Q6LDB4
    • Q86YQ6

    Protein attributes for CYP27A1 Gene

    531 amino acids
    Molecular mass:
    60235 Da
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYP27A1 Gene

neXtProt entry for CYP27A1 Gene

Proteomics data for CYP27A1 Gene at MOPED

Post-translational modifications for CYP27A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP27A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CYP27A1 Gene

Domains & Families for CYP27A1 Gene

Gene Families for CYP27A1 Gene

Suggested Antigen Peptide Sequences for CYP27A1 Gene

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 CYP27A1: view

Function for CYP27A1 Gene

Molecular function for CYP27A1 Gene

GENATLAS Biochemistry:
cytochrome p450,family XXVII A polypeptide 1,vitamin D3 25-hydroxylase,mitochondrial,expressed in liver,also mediating 27-hydroxylation of cholestane triol,a cholesterol metabolite,involved in calcium homeostasis,catalyzing the initial oxidation of sterol intermediates in hepatic bile synthesis
UniProtKB/Swiss-Prot CatalyticActivity:
5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol + 3 NADPH + 3 O(2) = (25R)-3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestan-26-oate + 3 NADP(+) + 4 H(2)O.
UniProtKB/Swiss-Prot Function:
Catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol. Has also a vitamin D3-25-hydroxylase activity.

Enzyme Numbers (IUBMB) for CYP27A1 Gene

genes like me logo Genes that share phenotypes with CYP27A1: view

Human Phenotype Ontology for CYP27A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP27A1 Gene

MGI Knock Outs for CYP27A1:

Animal Model Products

CRISPR Products

No data available for Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for CYP27A1 Gene

Localization for CYP27A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP27A1 Gene

Mitochondrion membrane.

Subcellular locations from

Jensen Localization Image for CYP27A1 Gene COMPARTMENTS Subcellular localization image for CYP27A1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
extracellular 2
nucleus 2
peroxisome 2
endoplasmic reticulum 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for CYP27A1 Gene

Pathways & Interactions for CYP27A1 Gene

genes like me logo Genes that share pathways with CYP27A1: view

UniProtKB/Swiss-Prot Q02318-CP27A_HUMAN

  • Pathway: Hormone biosynthesis; cholecalciferol biosynthesis.

Interacting Proteins for CYP27A1 Gene

Gene Ontology (GO) - Biological Process for CYP27A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016125 sterol metabolic process TAS --
genes like me logo Genes that share ontologies with CYP27A1: view

No data available for SIGNOR curated interactions for CYP27A1 Gene

Drugs & Compounds for CYP27A1 Gene

(17) Drugs for CYP27A1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cholecalciferol Approved Nutra Enzyme, substrate Fat-soluble secosteroids 810,804
Ergocalciferol Approved Nutra Enzyme, substrate 1192
chenodeoxycholic acid Approved Pharma Antagonist, Enzyme, substrate 27
Pegvisomant Approved Pharma Enzyme, inducer 0
cholesterol Experimental Pharma Agonist 0

(36) Additional Compounds for CYP27A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (25R)-5-beta-cholestane-3-alpha,7-alpha,12-alpha,26-tetraol
  • 3a,7a,12a,26-Tetrahydroxy-5b-cholestane
  • 5-b-Cholestane-3a-7-tetraol
  • 5-beta-Cholestane-3-alpha-7-alpha-12-alpha-26-tetraol
  • 5-beta-Cholestane-3a-7-tetraol
3 alpha,7 alpha,26-Trihydroxy-5beta-cholestane
  • (25R)-5beta-cholestane-3alpha,7alpha,26-triol
  • (3alpha,5beta,7alpha)-Cholestane-3,7,26-triol
  • 3alpha,7alpha,26-Trihydroxy-5beta-cholestane
  • 5 beta-Cholestane-3 alpha,7 alpha,26-triol
  • 5beta-cholestan-3alpha,7alpha,26-triol
3 beta-Hydroxy-5-cholestenoate
  • (3beta)-3-hydroxy-Cholest-5-en-26-oate
  • (3beta)-3-hydroxy-Cholest-5-en-26-oic acid
  • 3 beta-Hydroxycholest-5-en-27-oate
  • 3 beta-Hydroxycholest-5-en-27-oic acid
  • 3-HCOA
  • (6R)-2-methyl-6-[(3R,5S,7R,8R,9S,10S,12S,13R,14S,17R)-3,7,12-trihydroxy-10,13-dimethyl-2,3,4,5,6,7,8,9,11,12,14,15,16,17-tetradecahydro-1H-cyclopenta[a]phenanthren-17-yl]heptanal
  • 3,7,12-Trihydroxycholestan-26-al
  • 3-alpha-7-alpha-12-alpha-Trihydroxy-5-beta-cholestan-26-al
  • 3alpha,7-alpha,12alpha-Trihydroxy-5beta-cholestan-26-al
3a,7a,12a-Trihydroxy-5b-cholestanoic acid
  • (25R)-3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestan-26-oate
  • (25R)-3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestan-26-oic acid
  • 3-alpha,7-alpha,12-alpha-Trihydroxy-5-beta-cholestanate
  • 3a,7a,12a-Trihydroxy-5b-cholestanoate
  • 3a,7a,12a-Trihydroxy-5b-cholestanoic acid
genes like me logo Genes that share compounds with CYP27A1: view

Transcripts for CYP27A1 Gene

Unigene Clusters for CYP27A1 Gene

Cytochrome P450, family 27, subfamily A, polypeptide 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CYP27A1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11
SP1: - -
SP2: -
SP3: - - - - - -
SP4: - - -
SP5: - -

Relevant External Links for CYP27A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CYP27A1 Gene

mRNA expression in normal human tissues for CYP27A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP27A1 Gene

This gene is overexpressed in Liver (x12.5).

Protein differential expression in normal tissues from HIPED for CYP27A1 Gene

This gene is overexpressed in Liver (17.5) and Urine (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CYP27A1 Gene

SOURCE GeneReport for Unigene cluster for CYP27A1 Gene Hs.516700

genes like me logo Genes that share expression patterns with CYP27A1: view

Protein tissue co-expression partners for CYP27A1 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CYP27A1 Gene

Orthologs for CYP27A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP27A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CYP27A1 35
  • 82.7 (n)
  • 77.55 (a)
CYP27A1 36
  • 78 (a)
(Canis familiaris)
Mammalia CYP27A1 35
  • 84.6 (n)
  • 81.75 (a)
CYP27A1 36
  • 79 (a)
(Mus musculus)
Mammalia Cyp27a1 35
  • 79.21 (n)
  • 72.59 (a)
Cyp27a1 16
Cyp27a1 36
  • 71 (a)
(Pan troglodytes)
Mammalia LOC459951 35
  • 98.93 (n)
  • 99.44 (a)
CYP27A1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Cyp27a1 35
  • 79.02 (n)
  • 73.53 (a)
(Monodelphis domestica)
Mammalia CYP27A1 36
  • 62 (a)
(Ornithorhynchus anatinus)
Mammalia CYP27A1 36
  • 53 (a)
(Gallus gallus)
Aves CYP27A1 35
  • 65.91 (n)
  • 56.64 (a)
CYP27A1 36
  • 52 (a)
(Anolis carolinensis)
Reptilia CYP27A1 36
  • 54 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496109 35
  • 58.8 (n)
  • 52.78 (a)
Str.11938 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.2428 35
(Danio rerio)
Actinopterygii wufb58e08 35
zgc:136333 35
  • 57.45 (n)
  • 51.4 (a)
CYP27A1 (3 of 6) 36
  • 44 (a)
CYP27A1 (5 of 6) 36
  • 38 (a)
CYP27A1 (6 of 6) 36
  • 45 (a)
cyp27a1.2 36
  • 45 (a)
cyp27a1.4 36
  • 45 (a)
cyp27a7 36
  • 44 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cyp12a4 37
  • 26 (a)
Cyp12a5 37
  • 27 (a)
Cyp12b2 37
  • 27 (a)
Cyp12c1 37
  • 25 (a)
Cyp12d1 37
  • 24 (a)
Cyp12e1 37
  • 26 (a)
Cyp301a1 37
  • 25 (a)
Cyp49a1 37
  • 30 (a)
Cyp49a1 35
  • 46.8 (n)
  • 32.58 (a)
sad 36
  • 24 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005774 35
  • 46.24 (n)
  • 30.88 (a)
Species with no ortholog for CYP27A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 CYP27A1 Gene

Gene Tree for CYP27A1 (if available)
Gene Tree for CYP27A1 (if available)

Paralogs for CYP27A1 Gene

Paralogs for CYP27A1 Gene

(4) SIMAP similar genes for CYP27A1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CYP27A1: view

Variants for CYP27A1 Gene

Sequence variations from dbSNP and Humsavar for CYP27A1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_001303 Cerebrotendinous xanthomatosis (CTX)
VAR_001304 Cerebrotendinous xanthomatosis (CTX)
VAR_012285 Cerebrotendinous xanthomatosis (CTX)
rs121908099 Cerebrotendinous xanthomatosis (CTX) 218,814,409(+) CTCCC(A/G)GATCA reference, missense
VAR_012287 Cerebrotendinous xanthomatosis (CTX)

Structural Variations from Database of Genomic Variants (DGV) for CYP27A1 Gene

Variant ID Type Subtype PubMed ID
nsv875863 CNV Gain 21882294
nsv518750 CNV Loss 19592680

Variation tolerance for CYP27A1 Gene

Residual Variation Intolerance Score: 82.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.52; 55.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYP27A1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP27A1 Gene

Disorders for CYP27A1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for CYP27A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cerebrotendinous xanthomatosis
  • cholestanol storage disease
  • xanthelasmatosis
lipid storage disease
  • inborn lipid storage disorder
prostate leiomyosarcoma
  • leiomyosarcoma of the prostate
vitamin d-dependent rickets, type i
  • vitamin d-dependent rickets type i
- elite association - COSMIC cancer census association via MalaCards


  • Cerebrotendinous xanthomatosis (CTX) [MIM:213700]: Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts. {ECO:0000269 PubMed:12000359, ECO:0000269 PubMed:2019602, ECO:0000269 PubMed:7915755, ECO:0000269 PubMed:9186905, ECO:0000269 PubMed:9790667}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CYP27A1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CYP27A1: view

No data available for Genatlas for CYP27A1 Gene

Publications for CYP27A1 Gene

  1. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. (PMID: 2019602) Cali J.J. … Russell D.W. (J. Biol. Chem. 1991) 2 3 4 23 67
  2. [Recent studies on vitamin D metabolizing enzymes]. (PMID: 16816472) Sakaki T. (Clin Calcium 2006) 23 25 26
  3. Metabolism of vitamin D3 by cytochromes P450. (PMID: 15574355) Sakaki T. … Inouye K. (Front. Biosci. 2005) 23 25 26
  4. Cholecalciferol (vitamin D3) inhibits growth and invasion by up-regulating nuclear receptors and 25-hydroxylase (CYP27A1) in human prostate cancer cells. (PMID: 16158255) Tokar E.J. … Webber M.M. (Clin. Exp. Metastasis 2005) 23 25 26
  5. Expression of vitamin D3 25-hydroxylase (CYP27) mRNA after induction by vitamin D3 or UVB radiation in keratinocytes of human skin equivalents--a preliminary study. (PMID: 10541881) Lehmann B. … Meurer M. (Arch. Dermatol. Res. 1999) 23 25 26

Products for CYP27A1 Gene

Sources for CYP27A1 Gene