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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CYP27A1 Gene

protein-coding   GIFtS: 69
GCID: GC02P219610

cytochrome P450, family 27, subfamily A, polypeptide 1

(Previous names: cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase,...)
(Previous symbol: CYP27)
 Explore 35 diseases affiliated with
CYP27A1 via
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 Human Malady Compendium 
Biological research products
for CYP27A1    

Aliases
for CYP27A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Cytochrome P450, Family 27, Subfamily A, Polypeptide 11 2     Vitamin D(3) 25-Hydroxylase2 3
CYP271 2 3 5     5-Beta-Cholestane-3-Alpha,7-Alpha,12-Alpha-Triol 27-Hydroxylase2 3
CTX1 2 5     5-Beta-Cholestane-3-Alpha, 7-Alpha, 12-Alpha-Triol 26-Hydroxylase2
CP271 2     5-Beta-Cholestane-3-Alpha, 7-Alpha, 12-Alpha-Triol 27-Hydroxylase2
Cytochrome P450, Subfamily XXVIIA (Steroid 27-Hydroxylase, Cerebrotendinous
Xanthomatosis), Polypeptide 11 2
     Cholestanetriol 26-Monooxygenase2
Cytochrome P-450C27/252 3     Sterol 26-Hydroxylase, Mitochondrial2
Cytochrome P450 272 3     EC 1.14.13.153
Sterol 27-Hydroxylase2 3     

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 GC02P219849 GC02P219472 GC02P219354 GC02P211499


Summaries
for CYP27A1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CYP27A1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences 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 plasmid: CYP27A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CYP27A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP27A1


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

Entrez Gene cytogenetic band: 2q33-qter   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q33-qter

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 GC02P219610:  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

Proteins
for CYP27A1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Mitochondrion membrane
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q02318

    • CYP27A1 Protein expression data from MOPED and PaxDb:    About this image 
    CYP27A1 Protein Expression
    REFSEQ proteins: NP_000775.1  
    ENSEMBL proteins: 
     ENSP00000258415   ENSP00000404945   ENSP00000392671  
    Reactome Protein details: Q02318
    Human Recombinant Protein Products for CYP27A1: 
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    OriGene Purified Protein: CYP27A1
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    Novus Biologicals CYP27A1 Protein
    Novus Biologicals CYP27A1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CYP27A1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    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



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    Uscn ELISAs and CLIAs for CYP27A1

    Protein Domains /
    Families
    for CYP27A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CYP27A1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 families:
    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


    Function
    for CYP27A1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    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): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0008395steroid hydroxylase activity TAS9790667
    GO:0009055electron carrier activity IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0020037heme binding 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:
         Mouse knock-out Cyp27a1tm1Elt for CYP27A1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CYP27A1 

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate CYP27A1:
    hsa-miR-3908
    SwitchGear 3'UTR luciferase reporter plasmid: CYP27A1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CYP27A1 (see all 4)
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    In Situ Assay
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    Pathways & Interactions
    for CYP27A1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Synthesis of bile acids and bile salts
    		Synthesis of bile acids and bile salts1.00
    		Synthesis of bile acids and bile salts via 24-hydroxycholesterol0.53
    		Primary bile acid biosynthesis0.84
    		bile acid biosynthesis, neutral pathway0.52
    		Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.79
    		Synthesis of bile acids and bile salts via 27-hydroxycholesterol0.37
    		Bile acid and bile salt metabolism0.70
    2Cytochrome P450 - arranged by substrate type
    		Cytochrome P450 - arranged by substrate type1.00
    		cytochrome P4500.73
    		Phase 1 - Functionalization of compounds0.74
    3Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    4Vitamin D2 (ergocalciferol) metabolism
    		Vitamin D2 (ergocalciferol) metabolism1.00
    		Vitamin D synthesis0.40
    		Vitamin D2 (ergocalciferol) metabolism1.00
    5Biological oxidations
    		Biological oxidations1.00
    		metapathway biotransformation0.41

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for CYP27A1
        Vitamin D2 (ergocalciferol) metabolism


    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

    5/11        Reactome Pathways for CYP27A1 (see all 11)
        Cytochrome P450 - arranged by substrate type
    Bile acid and bile salt metabolism
    Metabolism
    Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts via 7alpha-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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CYP27A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/15 Interacting proteins for CYP27A1 (Q023183 ENSP000002584154) via UniProtKB, MINT, STRING, and/or I2D (see all 15)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA4P349323I2D: score=1 
    AKR1C4ENSP000002631264STRING: ENSP00000263126
    CH25HENSP000003609184STRING: ENSP00000360918
    CYP46A1ENSP000002618354STRING: ENSP00000261835
    CYP7A1ENSP000003016454STRING: ENSP00000301645
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    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:0044281small molecule metabolic process TAS--

    CYP27A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CYP27A1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CYP27A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CYP27A1

    10/13 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

    10/32 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about CYP27A1 / CP27A 

    Transcripts
    for CYP27A1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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

    miRNA
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    hsa-miR-3908
    SwitchGear 3'UTR luciferase reporter plasmid: CYP27A1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: CYP27A1
    OriGene siRNA: CYP27A1
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    Sirion Biotech Custom design and validation of potent shRNA sequences against CYP27A1 
    Clone
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    Primer
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    Additional cDNA 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 

    24/189 AceView cDNA sequences (see all 189):

    AI380701 AL524490 CA448887 BI522534 BE386036 CB164776 CR592594 NM_000784 
    M62401 BG741766 AU279715 BU626452 BQ007566 CR590744 AI286211 BU726525 
    H99411 BQ897261 BI909166 BQ575480 BI818860 AL531434 CA309091 BQ030428 

    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

    Expression
    for CYP27A1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CYP27A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTCAGATGA
    CYP27A1 Expression
    About this image

    CYP27A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CYP27A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CYP27A1

    SOURCE GeneReport for Unigene cluster: Hs.516700
        SABiosciences Expression via Pathway-Focused PCR Arrays including CYP27A1: 
              Drug Metabolism: Phase I Enzymes in human mouse rat
              PPAR Targets in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CYP27A1
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    In Situ
    Assay Products:     
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    Orthologs
    for CYP27A1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for CYP27A1 gene from 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CYP27A11 cytochrome P450, family 27, subfamily A, polypeptide more 64.69(n)
    55.34(a)    		   431683  XM_422056.3  XP_422056.3 
    lizard
    (Anolis carolinensis)    		 Reptilia CYP27A16
    		 --
    		 53(a)
    		 1 ↔ 1
    		 1(96013728-96033643)
    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
    CG18377-PA1    		 30(a)
    (best of 8)3
    47.87(n)1
    34.06(a)1    		   361051  NM_206081.21  NP_995803.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea cyp-44A16
    		 Probable cytochrome P450 CYP44
    		 22(a)
    		 possible ortholog
    		 II(5503949-5506098)


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

    Paralogs
    for CYP27A1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CYP27A1 gene
    CYP11A12  CYP11B12  CYP24A12  CYP11B22  CYP27C12  CYP27B12  
    5 SIMAP similar genes for CYP27A1 using alignment to 4 protein entries:     CP27A_HUMAN (see all proteins):
    CYP27C1    CYP27B1    CYP24    CYP24A1    CYP11A1

    CYP27A1 for paralogs           About GeneDecksing



    Genomic Variants
    for CYP27A1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/582 NCBI SNPs in CYP27A1 are shown (see all 582)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs725513131,2
    		Cpathogenic219674478(+) CTATGA/GGCCGT 2 E G mis10--------
    rs1219080961,2
    		Cpathogenic219678909(+) CTCTGA/C/TGGTAG 3 S R C mis10--------
    rs1219080991,2
    		Cpathogenic219679132(+) CTCCCG/AGATCA 2 /Q /R mis11Minor allele frequency- A:0.00NA 4552
    rs1219080981,2
    		Cpathogenic219679424(+) GGGTCC/TGGGCC 2 R W mis10--------
    rs725513221,2
    		Cpathogenic219679439(+) TGGGCC/G/TGCAGG 3 R G C mis10--------
    rs1149842271,2
    		F--219644527(+) GATCAT/ATTGAA 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1504934721,2
    		--219644600(+) CTATAC/GCCAGG 1 -- us2k10--------
    rs126142061,2
    		C,F,H--219644625(+) TTTTTT/GTTGTT 1 -- us2k1 trp35Minor allele frequency- G:0.17NA WA EA 368
    rs116951171,2
    		C,F,H--219644628(+) TTTTTG/TTTGTT 1 -- us2k12Minor allele frequency- T:0.30NA CSA 10
    rs1383043391,2
    		--219644700(+) TCCTGA/GGTTTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CYP27A1 (219646472 - 219680016 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CYP27A1: --
    Human Gene Mutation Database (HGMD): CYP27A1

    Locus Specific Mutation Databases (LSDB): CYP27A1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CYP27A1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP27A1

    Disorders / Diseases
    for CYP27A1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CYP27A1 for disorders           About GeneDecksing

    OMIM gene information: 606530   
    OMIM disorders: 213700  
    UniProtKB/Swiss-Prot: CP27A_HUMAN, Q02318
  • Defects in CYP27A1 are the cause of cerebrotendinous xanthomatosis (CTX) [MIM:213700]. CTX is a rare sterol
    • storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and
    cataracts

    20/35 diseases for CYP27A1 (see all 35):    About MalaCards
    cerebrotendinous xanthomatosis    xanthomatosis    lipid storage disease    smith-lemli-opitz syndrome
    vitamin d-dependent rickets, type i    cholesterol    pulmonary alveolar proteinosis    rickets
    sitosterolemia    coronary heart disease    neurodegenerative disease    cholestasis
    hyperlipidemia    hypercholesterolemia    hepatoblastoma    cholelithiasis
    cataract    gallbladder cancer    dementia    rabies

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

    10/16 Novoseek 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
    Cerebrotendinous Xanthomatosis

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

    Export disorders for CYP27A1 gene to outside databases

    Publications
    for CYP27A1 gene

    (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)
    About This Section

    PubMed articles for CYP27A1 gene, integrated from 9 sources (see all 217):
    (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. (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. (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. (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. (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. (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. (1991)
    7. 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. (1993)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Differences in the regulation of the classical and the alternative pathway for bile acid synthesis in human liver. No coordinate regulation of CYP7A1 and CYP27A1. (PubMed id 12011083)1, 7 Bjorkhem I....Wikvall K. (2002)
    10. Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. (PubMed id 12000359)1, 2 Lamon-Fava S.... Calandra S. (2002)

    External Searches for CYP27A1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CYP27A1 gene

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

    Other Databases showing CYP27A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CYP27A1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CYP27A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP27A1

    Intellectual Property
    for CYP27A1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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