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

CYP27C1 Gene

protein-coding   GIFtS: 47
GCID: GC02M127941

cytochrome P450, family 27, subfamily C, polypeptide 1

 Explore 2 diseases affiliated with
CYP27C1 via our new
 Human Malady Compendium 
Biological research products
for CYP27C1
    

(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 C, Polypeptide 11 2
FLJ160081
Cytochrome P450 27C12
Cytochrome P450, Family 27, Subfamily C, Polypeptide 132
EC 1.14.-.-3

External Ids:    HGNC: 334801   Entrez Gene: 3397612   Ensembl: ENSG000001866847   UniProtKB: Q4G0S43   

Export aliases for CYP27C1 gene to outside databases

Previous GC identifers: GC02M127658 GC02M120248


(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 CYP27C1:
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. (provided by RefSeq, Jul 2008)

Gene Wiki entry for CYP27C1


(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_022135.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CYP27C1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCYP27C1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CYP27C1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP27C1


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

Entrez Gene cytogenetic band: 2q14.3   Ensembl cytogenetic band:  2q14.3   HGNC cytogenetic band: 2q14.3

CYP27C1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP27C1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M127941:  view genomic region     (about GC identifiers)

Start:
127,941,412 bp from pter      End:
127,977,654 bp from pter
Size:
36,243 bases      Orientation:
minus strand

(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: C27C1_HUMAN, Q4G0S4 (See protein sequence)
Recommended Name: Cytochrome P450 27C1  
Size: 372 amino acids; 42632 Da
Cofactor: Heme group (By similarity)
Subcellular location: Membrane (Potential)
Secondary accessions: Q6ZNI7

Explore the universe of human proteins at neXtProt for CYP27C1: NX_Q4G0S4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q4G0S4

  • CYP27C1 Protein expression data from MOPED and PaxDb:    About this image 
    CYP27C1 Protein Expression
    REFSEQ proteins: NP_001001665.3  
    ENSEMBL proteins: 
     ENSP00000334128   ENSP00000387198  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020membrane IEA--

    CYP27C1 for ontologies           About GeneDecksing



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

    CYP27C1 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 Q4G0S4

    ProtoNet protein and cluster: Q4G0S4

    UniProtKB/Swiss-Prot: C27C1_HUMAN, Q4G0S4
    Similarity: Belongs to the cytochrome P450 family


    (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

         Enzyme Number (IUBMB): EC 1.14.-.-1

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity IEA--
    GO:0005506iron ion binding IEA--
    GO:0009055electron carrier activity IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA--
    GO:0020037heme binding IEA--
         
    CYP27C1 for ontologies           About GeneDecksing


    Animal Models:
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    (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  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cytochrome P450 - arranged by substrate type
    cytochrome P4500.73
    2Biological oxidations
    metapathway biotransformation0.41


    2 BioSystems Pathways for CYP27C1 
        cytochrome P450
    metapathway biotransformation


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CYP27C1

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

    Browse Tocris compounds for CYP27C1

    1 HMDB Compound for CYP27C1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Search CenterWatch for drugs/clinical trials and news about CYP27C1 / C27C1 

    (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,
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    About This Section

    REFSEQ mRNAs for CYP27C1 gene: 
    NM_001001665.3  

    Unigene Cluster for CYP27C1:

    Cytochrome P450, family 27, subfamily C, polypeptide 1
    Hs.407639  [show with all ESTs]
    Unigene Representative Sequence: BC039307
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000335247(uc002tod.2 uc021vnn.1) ENST00000409327

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    hsa-miR-144 hsa-miR-642a
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AK131190.1 BC039307.1 

    2 DOTS entries:

    DT.91720197  DT.97797836 

    8 AceView cDNA sequences:

    BM562765 AA423992 BC039307 NM_001001665 AK131190 BI459427 BQ277249 BX478822 

    GeneLoc Exon Structure


    (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

    CYP27C1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACATTATGCT
    CYP27C1 Expression
    About this image
    See CYP27C1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CYP27C1

    SOURCE GeneReport for Unigene cluster: Hs.407639
        SABiosciences Custom PCR Arrays for CYP27C1

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP27C1

    (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 CYP27C1 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CYP27C11 cytochrome P450, family 27, subfamily C, polypeptide more 75.72(n)
    80.91(a)
      424227  XM_422077.2  XP_422077.2 
    lizard
    (Anolis carolinensis)
    Reptilia CYP27C16
    --
    63(a)
    1 ↔ 1
    GL343344.1(765872-783930)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.54502 Xenopus laevis transcribed sequence with weak similarity more 74.97(n)    BX850857.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.113802 Transcribed sequence with weak similarity to protein more 76.19(n)    BG305152.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cyp12c16
    Cyp12a46
    (see all 12)
    Cyp12a4
    (see all 12)
    21(a)
    19(a)
    (see all 12)
    possible ortholog
    possible ortholog
    (see all 12)
    3L(18677629-18679419)
    3R(14960885-14962858)
    worm
    (Caenorhabditis elegans)
    Secernentea cyp-44A16
    Probable cytochrome P450 CYP44
    18(a)
    possible ortholog
    II(5503949-5506098)


    ENSEMBL Gene Tree for CYP27C1 (if available)
    TreeFam Gene Tree for CYP27C1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CYP27C1 gene
    CYP11A12  CYP27A12  CYP11B12  CYP24A12  CYP11B22  CYP27B12  
    7 SIMAP similar genes for CYP27C1 using alignment to 1 protein entry:     C27C1_HUMAN:
    CYP27A1    CYP27B1    CYP3A5    CYP24    CYP24A1    CYP11B2
    CYP11B1

    CYP27C1 for paralogs           About GeneDecksing



    (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

    10/520 NCBI SNPs in CYP27C1 are shown (see all 520    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1407333691,2
    C--127940989(+) TCTAA-/CCCAAC 1 -- ds50010--------
    rs557218171,2
    C--127940992(+) TAACCC/AACCCC 1 -- ds50011Minor allele frequency- A:0.00NA 2
    rs130105721,2
    C--127940993(+) AACCAC/ACCCCC 1 -- ds50011Minor allele frequency- A:0.00NA 2
    rs1130204431,2
    C--127940997(+) AACCCC/TCCTTT 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs355779921,2
    C,F--127941324(+) CTCTCC/TGCAGA 1 -- ds50018Minor allele frequency- T:0.37NA WA EA 368
    rs1148905491,2
    --127941359(+) GGTAAA/GAGCAA 1 -- ds50011Minor allele frequency- G:0.01WA 118
    rs1511991891,2
    --127941407(+) TCAGTA/CTTTTG 1 -- ds50010--------
    rs1402539941,2
    --127941516(+) ACAACA/TTCTGC 1 -- ut310--------
    rs1820820271,2
    --127941550(+) CCCGCA/GGCCTC 1 -- ut310--------
    rs1503768251,2
    --127941558(+) CTCCCC/GACCTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CYP27C1 (127941412 - 127977654 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CYP27C1
         1 CNV: 3391

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

    CYP27C1 for disorders           About GeneDecksing

    2 diseases for CYP27C1:    About MalaCards
    osteonecrosis    cholesterol

    1 disease from the University of Copenhagen DISEASES database for CYP27C1:
    Osteonecrosis

    Export disorders for CYP27C1 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)
    About This Section

    PubMed articles for CYP27C1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CYP27C1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    2. A genome-wide association study of self-rated health. (PubMed id 20707712)1 Mosing M.A....Martin N.G. (2010)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    4. Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants. (PubMed id 15128046)1 Nelson D.R....Nebert D.W. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 339761 HGNC: 33480 AceView: FLJ16008 Ensembl:ENSG00000186684 euGenes: HUgn339761
    ECgene: CYP27C1 H-InvDB: CYP27C1

    (According to HUGE)
    About This Section
      --

    (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 CYP27C1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CYP27C1 gene:
    Search GeneIP for patents involving CYP27C1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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