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CYP27A1 Gene

protein-coding   GIFtS: 70
GCID: GC02P219646

Cytochrome P450, Family 27, Subfamily A, Polypeptide 1

(Previous names: cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase,...)
(Previous symbol: CYP27)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cytochrome P450, Family 27, Subfamily A, Polypeptide 11 2     CTX2 5
CYP271 2 3 5     Cerebrotendinous Xanthomatosis1
Cytochrome P450, Subfamily XXVIIA (Steroid 27-Hydroxylase,
Cerebrotendinous Xanthomatosis), Polypeptide 11 2
     5-Beta-Cholestane-3-Alpha, 7-Alpha, 12-Alpha-Triol 26-Hydroxylase2
Cytochrome P-450C27/252 3     5-Beta-Cholestane-3-Alpha, 7-Alpha, 12-Alpha-Triol 27-Hydroxylase2
Cytochrome P450 272 3     CP272
Sterol 27-Hydroxylase2 3     Cholestanetriol 26-Monooxygenase2
Vitamin D(3) 25-Hydroxylase2 3     Sterol 26-Hydroxylase, Mitochondrial2
5-Beta-Cholestane-3-Alpha,7-Alpha,12-Alpha-Triol 27-Hydroxylase2 3     EC 1.14.13.153

External Ids:    HGNC: 26051   Entrez Gene: 15932   Ensembl: ENSG000001359297   OMIM: 6065305   UniProtKB: Q023183   

Export aliases for CYP27A1 gene to outside databases

Previous GC identifers: GC02P217662 GC02P218367 GC02P219610 GC02P219849 GC02P219472 GC02P219354 GC02P211499


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 xanthomatosis, and cerebrotendinous xanthomatosis. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP19A1.

UniProtKB/Swiss-Prot: CP27A_HUMAN, Q02318
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

Gene Wiki entry for CYP27A1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYP27A1 gene promoter:
         COUP-TF1   p53   COUP   HNF-4alpha2   NF-kappaB   GATA-1   HNF-4alpha1   COUP-TF   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCYP27A1 promoter sequence
   Search Chromatin IP Primers for CYP27A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYP27A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35

CYP27A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP27A1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P219646:  view genomic region     (about GC identifiers)

Start:
219,646,472 bp from pter      End:
219,680,016 bp from pter
Size:
33,545 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CP27A_HUMAN, Q02318 (See protein sequence)
Recommended Name: Sterol 26-hydroxylase, mitochondrial precursor  
Size: 531 amino acids; 60235 Da
Cofactor: Heme group
1 PDB 3D structure from and Proteopedia for CYP27A1:
1MFX (3D)    
Secondary accessions: A8K303 Q6LDB4 Q86YQ6

Explore the universe of human proteins at neXtProt for CYP27A1: NX_Q02318

Explore proteomics data for CYP27A1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CYP27A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000775.1  
    ENSEMBL proteins: 
     ENSP00000258415   ENSP00000404945   ENSP00000392671  
    Reactome Protein details: Q02318

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP27A1
    CYP24, CYP26 and CYP27 families

    3 InterPro protein domains:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002401 Cyt_P450_E_grp-I

    Graphical View of Domain Structure for InterPro Entry Q02318

    ProtoNet protein and cluster: Q02318

    2 Blocks protein domains:
    IPB002399 Mitochondrial P450 clan signature
    IPB002401 E-class P450 group I signature


    UniProtKB/Swiss-Prot: CP27A_HUMAN, Q02318
    Similarity: Belongs to the cytochrome P450 family


    CYP27A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP27A_HUMAN, Q02318
    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
    Catalytic activity: 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

         Genatlas biochemistry entry for CYP27A1:
    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

         Enzyme Number (IUBMB): EC 1.14.13.151

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0008395steroid hydroxylase activity TAS9790667
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0020037heme binding IEA--
    GO:0030343vitamin D3 25-hydroxylase activity IEA--
         
    CYP27A1 for ontologies           About GeneDecksing


    Phenotypes:
         7 GenomeRNAi human phenotypes for CYP27A1:
     Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica  
     Decreased Salmonella enterica   Decreased Salmonella-containin  Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cyp27a1):
     homeostasis/metabolism  liver/biliary system 

    CYP27A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cyp27a1tm1Elt for CYP27A1

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    1 qRT-PCR Assays for microRNA that regulate CYP27A1:
    hsa-miR-3908
    SwitchGear 3'UTR luciferase reporter plasmidCYP27A1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CP27A_HUMAN, Q02318: Mitochondrion membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    peroxisome2
    extracellular1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005740mitochondrial envelope ----
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--

    CYP27A1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CYP27A1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.88
    Synthesis of bile acids and bile salts via 24-hydroxycholesterol0.00
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.88
    Primary bile acid biosynthesis0.00
    Bile acid and bile salt metabolism0.73
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol0.00
    bile acid biosynthesis, neutral pathway0.48
    2Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    Vitamin D2 ergocalciferol metabolism0.00
    Phase 1 - Functionalization of compounds0.75
    Endogenous sterols0.00
    cytochrome P4500.74
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    4Biological oxidations
    Biological oxidations0.56
    metapathway biotransformation0.42
    5Vitamin D synthesis
    Vitamin D synthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for CYP27A1
        Vitamin D2 (ergocalciferol) metabolism

    4 BioSystems Pathways for CYP27A1
        Vitamin D synthesis
    cytochrome P450
    bile acid biosynthesis, neutral pathway
    metapathway biotransformation

    4 Reactome Pathways for CYP27A1
        Synthesis of bile acids and bile salts via 24-hydroxycholesterol
    Endogenous sterols
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol


    3 Kegg Pathways  (Kegg details for CYP27A1):
        Primary bile acid biosynthesis
    Metabolic pathways
    PPAR signaling pathway

    UniProtKB/Swiss-Prot: CP27A_HUMAN, Q02318
    Pathway: Hormone biosynthesis; cholecalciferol biosynthesis


    CYP27A1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CYP27A1: 

              Drug Metabolism: Phase I Enzymes in human mouse rat
              PPAR Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CYP27A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for CYP27A1 (Q023183 ENSP000002584154) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA4P349323, ENSP000003029614I2D: score=1 STRING: ENSP00000302961
    AKR1C4ENSP000002631264STRING: ENSP00000263126
    CH25HENSP000003609184STRING: ENSP00000360918
    CYP46A1ENSP000002618354STRING: ENSP00000261835
    CYP7A1ENSP000003016454STRING: ENSP00000301645
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006699bile acid biosynthetic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008203cholesterol metabolic process IEA--
    GO:0008206bile acid metabolic process TAS--
    GO:0016125sterol metabolic process TAS--

    CYP27A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CYP27A1 (CP27A)

    Selected HMDB Compounds for CYP27A1 (see all 13)    About this table
    CompoundSynonyms CAS #PubMed Ids
    27-Deoxy-5b-cyprinol5-beta-cholestane-3-alpha-7-alpha-12-alpha-26-tetraol (see all 8)862-53-3--
    3 beta-Hydroxy-5-cholestenoate3 beta-Hydroxycholest-5-en-27-oic acid (see all 13)6561-58-6--
    3a,7a-Dihydroxy-5b-cholestane5beta-Cholestane-3alpha,7alpha-diol (see all 5)3862-26-8--
    5-b-Cholestane-3a ,7a ,12a-triol5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol (see all 3)----
    7 alpha,26-Dihydroxy-4-cholesten-3-one4-cholesten-7alpha,26-diol-3-one (see all 5)4675-38-1--
    7a,12a-Dihydroxy-5b-cholestan-3-one7a,12a-Dihydroxy-5b-cholestan-3-one (see all 4)----
    Cholesterol(+)-ent-Cholesterol (see all 39)57-88-5--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--

    4 DrugBank Compounds for CYP27A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Chenodeoxycholic acidChenocholic acid (see all 3)474-25-9enzymesubstrate19696711 12385778 15576845 7824882 11181760 12011083 12509506
    Cholecalciferol(+)-vitamin D3 (see all 5)67-97-0enzymesubstrate15574355 15207715 10541881 15369780 20619365 15353333 16158255
    ErgocalciferolSynthetic Vitamin D (see all 2)50-14-6enzymesubstrate20511052 15574355 15764712 16816472 16516540
    PegvisomantGH (see all 6)218620-50-9enzymeinducer12597773

    Selected Novoseek inferred chemical compound relationships for CYP27A1 gene (see all 32)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    27-hydroxycholesterol 96.4 20 10869358 (3), 8001744 (2), 12531903 (1), 19158428 (1) (see all 12)
    3beta-hydroxy-5-cholestenoic acid 94.1 3 8001744 (1), 9334194 (1)
    sterol 92.2 242 10869358 (6), 8639470 (5), 9059518 (5), 9790667 (4) (see all 99)
    cholestanol 91.7 12 12777473 (2), 16445943 (2), 8006521 (1), 20494109 (1) (see all 8)
    chenodeoxycholic acid 85.2 5 15576845 (1), 19696711 (1), 12385778 (1), 7824882 (1)
    7alpha-hydroxy-4-cholesten-3-one 83.3 1 15576845 (1)
    24s-hydroxy-cholesterol 82.6 1 12119285 (1)
    7-dehydrocholesterol 73 2 7824882 (1), 11254748 (1)
    cholesterol 72.1 137 12531903 (5), 16477808 (4), 10428977 (4), 8001744 (3) (see all 67)
    25-hydroxyvitamin d 71 23 12782149 (6), 7937829 (3), 8706816 (2), 15574355 (1) (see all 8)



    CYP27A1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CYP27A1 gene: 
    NM_000784.3  

    Unigene Cluster for CYP27A1:

    Cytochrome P450, family 27, subfamily A, polypeptide 1
    Hs.516700  [show with all ESTs]
    Unigene Representative Sequence: AK226039
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000494263(uc002viz.4) ENST00000258415 ENST00000445971 ENST00000466602
    ENST00000411688

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    Additional mRNA sequence: 

    AK226039.1 AK290418.1 AK310782.1 AY178622.1 BC017044.2 BC040430.1 BC051851.1 M62401.1 
    X59812.1 

    11 DOTS entries:

    DT.452571  DT.95126203  DT.100794495  DT.91721632  DT.100794492  DT.40117227  DT.95126207  DT.100794486 
    DT.120988608  DT.95126194  DT.95368629 

    Selected AceView cDNA sequences (see all 189):

    BI910741 CA448887 BQ720408 BC051851 BI522534 CB164776 CA444988 CD370680 
    CR592594 BU626452 AL524490 BI909166 BX432043 BE386036 CA309091 BQ575480 
    BI760589 BC040430 BI818860 BU727992 BU171580 BQ897261 BQ030428 NM_000784 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CYP27A1    About this scheme

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


    ECgene alternative splicing isoforms for CYP27A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CYP27A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTCAGATGA
    CYP27A1 Expression
    About this image

    CYP27A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYP27A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.516700
        Pathway & Disease-focused RT2 Profiler PCR Arrays including CYP27A1: 
              Drug Metabolism: Phase I Enzymes in human mouse rat
              PPAR Targets in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CYP27A1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp27a11 , 5 cytochrome P450, family 27, subfamily a, polypeptide more1, 5 79.21(n)1
    72.59(a)1
      1 (38.54 cM)5
    1040861  NM_024264.41  NP_077226.21 
     747135745 
    chicken
    (Gallus gallus)
    Aves CYP27A11 cytochrome P450, family 27, subfamily A, polypeptide more 65.91(n)
    56.64(a)
      431683  XM_422056.4  XP_422056.3 
    lizard
    (Anolis carolinensis)
    Reptilia CYP27A16
    cytochrome P450, family 27, subfamily A, polypepti...
    54(a)
    1 ↔ 1
    1(96009742-96033773)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.24282 Xenopus laevis transcribed sequence with weak similarity more 74.87(n)    BX844334.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb58e082 Transcribed sequence with weak similarity to protein more 72.25(n)    57042331 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cyp49a11 , 3 cytochrome P4503
    Cyp49a11
    30(a)
    (best of 8)3
    46.8(n)1
    32.58(a)1
      361051  NM_001259327.21  NP_001246256.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CYP27A1 gene
    CYP19A12  CYP11B12  CYP24A12  CYP46A12  CYP11B22  CYP27B12  CYP11A12  CYP27C12  
    4 SIMAP similar genes for CYP27A1 using alignment to 4 protein entries:     CP27A_HUMAN (see all proteins):
    CYP27C1    CYP27B1    CYP24A1    CYP11A1

    CYP27A1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CYP27A1 (see all 730)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0169664
    Cerebrotendinous xanthomatosis (CTX)4--see VAR_0169662 G E mis40--------
    VAR_0122854
    Cerebrotendinous xanthomatosis (CTX)4--see VAR_0122852 R S mis40--------
    VAR_0013044
    Cerebrotendinous xanthomatosis (CTX)4--see VAR_0013042 R C mis40--------
    VAR_0122874
    Cerebrotendinous xanthomatosis (CTX)4--see VAR_0122872 R Q mis40--------
    VAR_0122864
    Cerebrotendinous xanthomatosis (CTX)4--see VAR_0122862 R Q mis40--------
    VAR_0122884
    Cerebrotendinous xanthomatosis (CTX)4--see VAR_0122882 R W mis40--------
    VAR_0013034
    Cerebrotendinous xanthomatosis (CTX)4--see VAR_0013032 R C mis40--------
    rs725513131,2
    Cpathogenic1219058147(+) CTATGA/GGCCGT 2 E G mis10--------
    rs1219080961,2
    Cpathogenic1219062578(+) CTCTGA/C/TGGTAG 3 S R C mis10--------
    rs1219080991,2
    Cpathogenic1219062801(+) CTCCCG/AGATCA 2 /Q /R mis11Minor allele frequency- A:0.00NA 4552

    HapMap Linkage Disequilibrium report for CYP27A1 (219646472 - 219680016 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CYP27A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv518750CNV Loss19592680
    nsv875863CNV Gain21882294

    Human Gene Mutation Database (HGMD): CYP27A1
    Locus Specific Mutation Databases (LSDB): CYP27A1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CYP27A1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP27A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606530   
    OMIM disorders: 213700  
    UniProtKB/Swiss-Prot: CP27A_HUMAN, Q02318
  • Cerebrotendinous xanthomatosis (CTX) [MIM:213700]: Rare sterol storage disorder characterized clinically
    by progressive neurologic dysfunction, premature atherosclerosis, and cataracts. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for CYP27A1 (see all 35):    About MalaCards
    xanthomatosis    cerebrotendinous xanthomatosis    lipid storage disease    vitamin d-dependent rickets type i
    sitosterolemia    smith-lemli-opitz syndrome    rickets    pulmonary alveolar proteinosis
    cholelithiasis    hepatoblastoma    gallbladder cancer    cholestasis
    hypercholesterolemia    rabies    cataract    diarrhea
    dementia    atherosclerosis    coronary heart disease    cholera

    1 disease from the University of Copenhagen DISEASES database for CYP27A1:
    Cerebrotendinous xanthomatosis

    CYP27A1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for CYP27A1 gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xanthomatosis cerebrotendinous 97.6 51 8728324 (2), 10519880 (2), 8728327 (2), 8044416 (1) (see all 40)
    xanthoma 85.1 2 8014582 (1), 17325385 (1)
    atherosclerosis 53.7 12 8078928 (2), 15533057 (2), 12531903 (1), 11111083 (1) (see all 8)
    rickets 47.1 1 15544953 (1)
    cataract 47 3 20450308 (2), 8014582 (1)
    cholestasis 26.9 1 15795599 (1)
    hepatoblastoma 24 1 11521968 (1)
    rare disease 13.6 1 20494109 (1)
    hypercholesterolemia 12.4 1 10885331 (1)
    atherosclerotic plaque 8.95 2 9059518 (2)

    GeneTests: CYP27A1
    GeneReviews: CYP27A1
    Genetic Association Database (GAD): CYP27A1
    Human Genome Epidemiology (HuGE) Navigator: CYP27A1 (10 documents)

    Export disorders for CYP27A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CYP27A1 gene, integrated from 10 sources (see all 219):
    (articles sorted by number of sources associating them with CYP27A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. (PubMed id 2019602)1, 2, 3, 9 Cali J.J.... Russell D.W. (J. Biol. Chem. 1991)
    2. A novel arg362ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity. (PubMed id 9790667)1, 2, 9 Chen W.... Seyama Y. (Biochemistry 1998)
    3. Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX). (PubMed id 7915755)1, 2, 9 Kim K.-K.... Seyama Y. (J. Lipid Res. 1994)
    4. Novel homozygous and compound heterozygous mutations of sterol 27- hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families. (PubMed id 9186905)1, 2, 9 Chen W.... Seyama Y. (J. Lipid Res. 1997)
    5. Transfected human liver cytochrome P-450 hydroxylates vitamin D analogs at different side-chain positions. (PubMed id 7690968)1, 2, 9 Guo Y.-D.... Jones G. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    6. Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis. (PubMed id 1708392)1, 2, 9 Cali J.J. and Russell D.W. (J. Biol. Chem. 1991)
    7. Asthma and genes encoding components of the vitamin D pathway. (PubMed id 19852851)1, 4, 9 BossAc Y....Laprise C. (Respir. Res. 2009)
    8. Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk. (PubMed id 19255064)1, 4, 9 Ahn J....Hayes R.B. (Carcinogenesis 2009)
    9. Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. (PubMed id 8514861)1, 2, 9 Leitersdorf E.... Berginer V.M. (J. Clin. Invest. 1993)
    10. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1593 HGNC: 2605 AceView: CYP27A1 Ensembl:ENSG00000135929 euGenes: HUgn1593
    ECgene: CYP27A1 Kegg: 1593 H-InvDB: CYP27A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CYP27A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CYP27A1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CYP27A1 gene:
    Search GeneIP for patents involving CYP27A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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