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Aliases for CYP27A1 Gene

Aliases for CYP27A1 Gene

  • Cytochrome P450, Family 27, Subfamily A, Polypeptide 1 2 3
  • CYP27 3 4 6
  • 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
  • Vitamin D(3) 25-Hydroxylase 3 4
  • Cytochrome P-450C27/25 3 4
  • Sterol 27-Hydroxylase 3 4
  • Cytochrome P450 27 3 4
  • CTX 3 6
  • 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
  • Sterol 26-Hydroxylase, Mitochondrial 3
  • Cholestanetriol 26-Monooxygenase 3
  • Cerebrotendinous Xanthomatosis 2
  • EC 1.14.13.15 4
  • CP27 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, Polypeptide 1) is a Protein Coding gene. Diseases associated with CYP27A1 include cerebrotendinous xanthomatosis and xanthomatosis. 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 CYP11A1.

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

Genomic Location for CYP27A1 Gene

Start:
218,781,749 bp from pter
End:
218,815,293 bp from pter
Size:
33,545 bases
Orientation:
Plus strand

Genomic View for CYP27A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q02318-CP27A_HUMAN
    Recommended name:
    Sterol 26-hydroxylase, mitochondrial
    Protein Accession:
    Q02318
    Secondary Accessions:
    • A8K303
    • Q6LDB4
    • Q86YQ6

    Protein attributes for CYP27A1 Gene

    Size:
    531 amino acids
    Molecular mass:
    60235 Da
    Cofactor:
    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:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CYP27A1 Gene

Domains for CYP27A1 Gene

Gene Families for CYP27A1 Gene

HGNC:
  • CYP :Cytochrome P450s
IUPHAR :

Suggested Antigen Peptide Sequences for CYP27A1 Gene

Graphical View of Domain Structure for InterPro Entry

Q02318

UniProtKB/Swiss-Prot:

CP27A_HUMAN :
  • Q02318
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

Gene Ontology (GO) - Molecular Function for CYP27A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0008395 steroid hydroxylase activity TAS 9790667
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
GO:0020037 heme binding IEA --
GO:0030343 vitamin D3 25-hydroxylase activity IEA --
genes like me logo Genes that share ontologies with CYP27A1: view
genes like me logo Genes that share phenotypes with CYP27A1: view

Animal Models for CYP27A1 Gene

MGI Knock Outs for CYP27A1:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for CYP27A1 Gene

Localization for CYP27A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP27A1 Gene

Mitochondrion membrane.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for CYP27A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005740 mitochondrial envelope --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with CYP27A1: view

Pathways 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: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:0016125 sterol metabolic process TAS --
genes like me logo Genes that share ontologies with CYP27A1: view

Compounds for CYP27A1 Gene

(13) HMDB Compounds for CYP27A1 Gene

Compound Synonyms Cas Number PubMed IDs
27-Deoxy-5b-cyprinol
  • 5-beta-cholestane-3-alpha-7-alpha-12-alpha-26-tetraol
862-53-3
3 beta-Hydroxy-5-cholestenoate
  • 3 beta-Hydroxycholest-5-en-27-oic acid
6561-58-6
3a,7a-Dihydroxy-5b-cholestane
  • 5beta-Cholestane-3alpha,7alpha-diol
3862-26-8
5-b-Cholestane-3a ,7a ,12a-triol
  • 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol
Not Available
7 alpha,26-Dihydroxy-4-cholesten-3-one
  • 4-cholesten-7alpha,26-diol-3-one
4675-38-1

(4) Drugbank Compounds for CYP27A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Chenodeoxycholic acid
  • Chenocholic acid
474-25-9 enzyme substrate
Cholecalciferol
  • (+)-vitamin D3
67-97-0 enzyme substrate
Ergocalciferol
  • Synthetic Vitamin D
50-14-6 enzyme substrate
Pegvisomant
  • GH
218620-50-9 enzyme inducer

(32) Novoseek inferred chemical compound relationships for CYP27A1 Gene

Compound -log(P) Hits PubMed IDs
27-hydroxycholesterol 96.4 15
3beta-hydroxy-5-cholestenoic acid 94.1 2
sterol 92.2 179
cholestanol 91.7 10
chenodeoxycholic acid 85.2 4
genes like me logo Genes that share compounds with CYP27A1: view

Transcripts for CYP27A1 Gene

mRNA/cDNA 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
CYP27A1
ECgene alternative splicing isoforms for
CYP27A1

Expression for CYP27A1 Gene

mRNA expression in normal human tissues for CYP27A1 Gene

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

This gene is overexpressed in Liver (12.5).

Integrated Proteomics: protein expression 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 expressions with CYP27A1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
chimpanzee
(Pan troglodytes)
Mammalia CYP27A1 36
  • 99 (a)
OneToOne
LOC459951 35
  • 98.93 (n)
  • 99.44 (a)
cow
(Bos Taurus)
Mammalia CYP27A1 35
  • 82.7 (n)
  • 77.55 (a)
CYP27A1 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYP27A1 35
  • 84.6 (n)
  • 81.75 (a)
CYP27A1 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp27a1 35
  • 79.21 (n)
  • 72.59 (a)
Cyp27a1 16
Cyp27a1 36
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CYP27A1 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP27A1 36
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp27a1 35
  • 79.02 (n)
  • 73.53 (a)
chicken
(Gallus gallus)
Aves CYP27A1 35
  • 65.91 (n)
  • 56.64 (a)
CYP27A1 36
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYP27A1 36
  • 54 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2428 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496109 35
  • 58.8 (n)
  • 52.78 (a)
Str.11938 35
zebrafish
(Danio rerio)
Actinopterygii CYP27A1 (3 of 6) 36
  • 44 (a)
OneToMany
CYP27A1 (5 of 6) 36
  • 38 (a)
OneToMany
CYP27A1 (6 of 6) 36
  • 45 (a)
OneToMany
cyp27a1.2 36
  • 45 (a)
OneToMany
cyp27a1.4 36
  • 45 (a)
OneToMany
cyp27a7 36
  • 44 (a)
OneToMany
wufb58e08 35
zgc:136333 35
  • 57.45 (n)
  • 51.4 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005774 35
  • 46.24 (n)
  • 30.88 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cyp49a1 35
  • 46.8 (n)
  • 32.58 (a)
sad 36
  • 24 (a)
OneToMany
Cyp301a1 37
  • 25 (a)
Cyp12b2 37
  • 27 (a)
Cyp12c1 37
  • 25 (a)
Cyp49a1 37
  • 30 (a)
Cyp12a5 37
  • 27 (a)
Cyp12a4 37
  • 26 (a)
Cyp12d1 37
  • 24 (a)
Cyp12e1 37
  • 26 (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

ENSEMBL:
Gene Tree for CYP27A1 (if available)
TreeFam:
Gene Tree for CYP27A1 (if available)

Paralogs for CYP27A1 Gene

Paralogs for CYP27A1 Gene

Selected 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 MAF
rs658787 -- 218,810,238(-) gcagt(G/T)gcatg intron-variant
rs682417 -- 218,799,316(+) cccaa(C/T)tacaa intron-variant
rs690833 -- 218,806,810(+) tgagg(A/G)ttgaa intron-variant
rs691066 -- 218,813,698(+) AGTAC(C/T)GGGAT intron-variant
rs691414 -- 218,808,526(+) GGTGA(C/T)GTTTC intron-variant

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

Relevant External Links for CYP27A1 Gene

HapMap Linkage Disequilibrium report
CYP27A1
Human Gene Mutation Database (HGMD)
CYP27A1
Locus Specific Mutation Databases (LSDB)
CYP27A1

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

Disorders for CYP27A1 Gene

(1) OMIM Diseases for CYP27A1 Gene (606530)

UniProtKB/Swiss-Prot

CP27A_HUMAN
  • 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.

(1) University of Copenhagen DISEASES for CYP27A1 Gene

(16) Novoseek inferred disease relationships for CYP27A1 Gene

Disease -log(P) Hits PubMed IDs
xanthomatosis cerebrotendinous 97.6 43
xanthoma 85.1 2
atherosclerosis 53.7 10
rickets 47.1 1
cataract 47 3

Relevant External Links for CYP27A1

GeneTests
CYP27A1
GeneReviews
CYP27A1
Genetic Association Database (GAD)
CYP27A1
Human Genome Epidemiology (HuGE) Navigator
CYP27A1
genes like me logo Genes that share disorders with CYP27A1: view

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
  2. Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX). (PMID: 7915755) Kim K.-K. … Seyama Y. (J. Lipid Res. 1994) 3 4 23
  3. Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. (PMID: 8514861) Leitersdorf E. … Berginer V.M. (J. Clin. Invest. 1993) 3 4 23
  4. Novel homozygous and compound heterozygous mutations of sterol 27- hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families. (PMID: 9186905) Chen W. … Seyama Y. (J. Lipid Res. 1997) 3 4 23
  5. Transfected human liver cytochrome P-450 hydroxylates vitamin D analogs at different side-chain positions. (PMID: 7690968) Guo Y.-D. … Jones G. (Proc. Natl. Acad. Sci. U.S.A. 1993) 3 4 23

Products for CYP27A1 Gene

  • antibodies-online proteins for CYP27A1
  • antibodies-online antibodies for CYP27A1
  • antibodies-online kits for CYP27A1

Sources for CYP27A1 Gene

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