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

CYP11A1 Gene

protein-coding   GIFtS: 68
GCID: GC15M074630

Cytochrome P450, Family 11, Subfamily A, Polypeptide 1

(Previous names: cytochrome P450, subfamily XIA (cholesterol side chain cleavage))
(Previous symbol: CYP11A)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cytochrome P450, Family 11, Subfamily A, Polypeptide 11 2     Cholesterol Monooxygenase (Side-Chain-Cleaving)1
CYP11A1 2 3 5     Cholesterol 20-22 Desmolase2
Cytochrome P450, Subfamily XIA (Cholesterol Side Chain Cleavage)1 2     Cholesterol Monooxygenase (Side-Chain Cleaving)2
Cytochrome P450 11A12 3     Cholesterol Side-Chain Cleavage Enzyme, Mitochondrial2
Cytochrome P450(Scc)2 3     Cytochrome P450C11A12
CYPXIA12 3     Steroid 20-22-Lyase2
EC 1.14.15.63 8     Cholesterol Desmolase3
P450SCC2 5     EC 1.14.158

External Ids:    HGNC: 25901   Entrez Gene: 15832   Ensembl: ENSG000001404597   OMIM: 1184855   UniProtKB: P051083   

Export aliases for CYP11A1 gene to outside databases

Previous GC identifers: GC15M067746 GC15M072206 GC15M072345 GC15M072417 GC15M051425


(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 CYP11A1 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 protein localizes to the mitochondrial inner membrane and catalyzes the conversion of
cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two
transcript variants encoding different isoforms have been found for this gene. The cellular location of the
smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. (provided by RefSeq, Jul
2008)

GeneCards Summary for CYP11A1 Gene: 
CYP11A1 (cytochrome P450, family 11, subfamily A, polypeptide 1) is a protein-coding gene. Diseases associated with CYP11A1 include congenital adrenal insufficiency, and adrenal insufficiency, congenital, with 46,xy sex reversal, and among its related super-pathways are Cytochrome P450 - arranged by substrate type and Metabolic pathways. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP27A1.

UniProtKB/Swiss-Prot: CP11A_HUMAN, P05108
Function: Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone

Gene Wiki entry for CYP11A1 (Cholesterol side-chain cleavage enzyme) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CYP11A1 gene promoter:
         Egr-2   CREB   deltaCREB   POU6F1 (c2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CYP11A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CYP11A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP11A1


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

Entrez Gene cytogenetic band: 15q23-q24   Ensembl cytogenetic band:  15q24.1   HGNC cytogenetic band: 15q23-q24

CYP11A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP11A1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M074630:  view genomic region     (about GC identifiers)

Start:
74,630,100 bp from pter      End:
74,660,081 bp from pter
Size:
29,982 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CP11A_HUMAN, P05108 (See protein sequence)
Recommended Name: Cholesterol side-chain cleavage enzyme, mitochondrial precursor  
Size: 521 amino acids; 60102 Da
Cofactor: Heme group
Subunit: Interacts with FDX1/adrenodoxin
Subcellular location: Mitochondrion membrane
4 PDB 3D structures from and Proteopedia for CYP11A1:
3N9Y (3D)        3N9Z (3D)        3NA0 (3D)        3NA1 (3D)    
Secondary accessions: A8K8D5 B3KPU8 G3XAD7 Q15081 Q16805 Q8N1A7
Alternative splicing: 2 isoforms:  P05108-1   P05108-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CYP11A1: NX_P05108

Explore proteomics data for CYP11A1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P05108

  • 4/20 DME Specific Peptides for CYP11A1 (P05108) (see all 20)
     GVRQCLG  NLYHFWR  AGGVDTT  LQWHLYE 

    CYP11A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CYP11A1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000772.2  NP_001093243.1  

    ENSEMBL proteins: 
     ENSP00000351455   ENSP00000268053   ENSP00000391081   ENSP00000456941   ENSP00000402064  
     ENSP00000456598   ENSP00000388018   ENSP00000405488   ENSP00000439750  
    Reactome Protein details: P05108
    Human Recombinant Protein Products for CYP11A1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    OriGene Protein Over-expression Lysate for CYP11A1
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    Novus Biologicals CYP11A1 Proteins
    Novus Biologicals CYP11A1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CYP11A1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ISS--
    GO:0005743mitochondrial inner membrane ----
    GO:0005759mitochondrial matrix TAS--
    GO:0030061mitochondrial crista IEA--
    GO:0043204perikaryon IEA--

    CYP11A1 for ontologies           About GeneDecksing



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

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP11A1 
    CYP11, CYP17, CYP19, CYP20 and CYP21 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 P05108

    ProtoNet protein and cluster: P05108

    1 Blocks protein domain: IPB002399 Mitochondrial P450 clan signature

    UniProtKB/Swiss-Prot: CP11A_HUMAN, P05108
    Similarity: Belongs to the cytochrome P450 family


    CYP11A1 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP11A_HUMAN, P05108
    Function: Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone
    Catalytic activity: Cholesterol + 6 reduced adrenodoxin + 3 O(2) = pregnenolone + 4-methylpentanal + 6 oxidized
    adrenodoxin + 4 H(2)O
    Induction: By 8-bromo cyclic AMP

         Enzyme Numbers (IUBMB): EC 1.14.15.61 2 EC 1.14.152

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity ----
    GO:0005506iron ion binding IEA--
    GO:0008386cholesterol monooxygenase (side-chain-cleaving) activity ISS--
    GO:0009055electron carrier activity IEA--
    GO:0015485cholesterol binding IEA--
         
    CYP11A1 for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Cyp11a1):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     immune system  mortality/aging  muscle  nervous system  normal 
     reproductive system 

    CYP11A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CYP11A1: Cyp11a1tm1.1Bcc Cyp11a1tm1Bcc

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CYP11A1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CYP11A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CYP11A1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CYP11A1 

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    Inhib. RNA
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): CYP11A1 (NM_000781)
    Sino Biological Human cDNA Clone for CYP11A1
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CYP11A1 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    Phase 1 - Functionalization of compounds0.74
    cytochrome P4500.75
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3Biological oxidations
    Biological oxidations0.55
    metapathway biotransformation0.41
    4Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D1.00
    Steroid hormones1.00
    5Mineralocorticoid biosynthesis
    Glucocorticoid & Mineralcorticoid Metabolism0.67

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CYP11A1
        Development Role of Activin A in cell differentiation and proliferation


    1 Cell Signaling Technology (CST) Pathway for CYP11A1
        Glucose / Energy Metabolism

    1 GeneGo (Thomson Reuters) Pathway for CYP11A1
        Development Role of Activin A in cell differentiation and proliferation

    4 BioSystems Pathways for CYP11A1
        cytochrome P450
    Prostaglandin Synthesis and Regulation
    metapathway biotransformation
    Glucocorticoid & Mineralcorticoid Metabolism


    5/9        Reactome Pathways for CYP11A1 (see all 9)
        Cytochrome P450 - arranged by substrate type
    Metabolism
    Pregnenolone biosynthesis
    Steroid hormones
    Endogenous sterols


    3         Kegg Pathways  (Kegg details for CYP11A1):
        Steroid hormone biosynthesis
    Metabolic pathways
    Ovarian steroidogenesis

    UniProtKB/Swiss-Prot: CP11A_HUMAN, P05108
    Pathway: Lipid metabolism; C21-steroid hormone metabolism


    CYP11A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CYP11A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/51 Interacting proteins for CYP11A1 (P051082, 3 ENSP000002680534) via UniProtKB, MINT, STRING, and/or I2D (see all 51)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD2Q157962, 3, ENSP000002621604MINT-61586 I2D: score=3 STRING: ENSP00000262160
    SMAD3P840222, 3, ENSP000003329734MINT-61713 I2D: score=3 STRING: ENSP00000332973
    SMAD9O151982, 3, ENSP000003691544MINT-62142 I2D: score=3 STRING: ENSP00000369154
    FDX1P101093, ENSP000002602704I2D: score=2 STRING: ENSP00000260270
    CYP11B2P190993, ENSP000003258224I2D: score=1 STRING: ENSP00000325822
    About this table

    Gene Ontology (GO): 5/60 biological process terms (GO ID links to tree view) (see all 60):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001101response to acid IEA--
    GO:0006082organic acid metabolic process ----
    GO:0006694steroid biosynthetic process ----
    GO:0006700C21-steroid hormone biosynthetic process TAS--
    GO:0006701progesterone biosynthetic process IEA--

    CYP11A1 for ontologies           About GeneDecksing



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

    CYP11A1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CYP11A1 (CP11A)

    10/18 HMDB Compounds for CYP11A1 (see all 18)    About this table
    CompoundSynonyms CAS #PubMed Ids
    7-Dehydrocholesterol(-)-7-dehydrocholesterol (see all 26)434-16-214657394
    17a,20a-Dihydroxycholesterol17alpha,20alpha-Dihydroxycholesterol ----
    17a-Hydroxypregnenolone17-Hydroxy-D5-pregnenolone (see all 9)387-79-1--
    20a,22b-Dihydroxycholesterol-- (see all 2)15234-55-6--
    20alpha-Hydroxycholesterol20alpha-Hydroxycholesterol (see all 4)516-72-3--
    22b-Hydroxycholesterol(3beta,22R)-Cholest-5-ene-3,22-diol (see all 4)22348-64-7--
    4-Methylpentanal4-Methyl valeraldehyde (see all 6)1119-16-0--
    Cholesterol(+)-ent-Cholesterol (see all 39)57-88-5--
    Clotrimazole(Chlorotrityl)imidazole (see all 72)23593-75-1--
    DigoxinCardoxin (see all 19)20830-75-5--

    10/15 DrugBank Compounds for CYP11A1 (see all 15)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AminoglutethimideDl-Aminoglutethimide (see all 2)125-84-8targetinhibitor11752352 16817851 11161433
    Cholecalciferol(+)-vitamin D3 (see all 5)67-97-0enzymesubstrate19000766 18573681 14657394
    Digoxin-- 20830-75-5enzymeinhibitor9886754 11309248 15249423
    ClomifeneChlomaphene (see all 11)911-45-5enzymeinhibitor19934256
    ClotrimazoleChlotrimazole (see all 2)23593-75-1enzymeinhibitor3921030
    DexamethasoneDesametasone (see all 9)50-02-2enzymeinhibitor19934256
    DigitoxinDigitoksin (see all 3)71-63-6enzyme--10381263
    Dihydrotestosterone(5a,17b)-17-Hydroxyandrostan-3-one (see all 17)521-18-6enzymesubstrate19934256
    DinoprostoneDinoprostone Prostaglandin E2 (see all 3)363-24-6enzymesubstrate19934256
    GlutethimideGlutathimid (see all 5)77-21-4enzymeinhibitor19934256

    10/79 Novoseek inferred chemical compound relationships for CYP11A1 gene (see all 79)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3beta-hydroxysteroid 93.7 113 12414909 (2), 7810070 (2), 1879398 (1), 11517168 (1) (see all 88)
    22r-hydroxycholesterol 82.7 10 8947841 (2), 7826890 (1), 9578606 (1), 17479410 (1) (see all 6)
    steroid 80.6 92 11701663 (2), 16684834 (2), 8626850 (2), 1310416 (1) (see all 72)
    cholesterol 79.3 390 11502818 (4), 1661294 (3), 2226329 (2), 10418987 (2) (see all 99)
    20alpha-hydroxycholesterol 78.8 4 7792814 (1), 9578606 (1), 14715710 (1)
    progesterone 75.6 110 2226329 (7), 8399837 (4), 7826890 (3), 9002660 (3) (see all 65)
    testosterone 73.2 59 15126571 (3), 16930210 (2), 12916318 (2), 10864789 (2) (see all 42)
    17beta-hydroxysteroid 70.6 18 15514087 (2), 9059565 (1), 17447562 (1), 16298753 (1) (see all 14)
    dhea 69.4 16 12916318 (2), 8964847 (2), 1846003 (1), 1835446 (1) (see all 8)
    aminoglutethimide 68 6 2226329 (2), 2226298 (1), 1895288 (1), 1613747 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about CYP11A1 / CP11A

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CYP11A1 gene (2 alternative transcripts): 
    NM_000781.2  NM_001099773.1  

    Unigene Cluster for CYP11A1:

    Cytochrome P450, family 11, subfamily A, polypeptide 1
    Hs.303980  [show with all ESTs]
    Unigene Representative Sequence: NM_001099773
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358632(uc002axs.2 uc010bjm.1) ENST00000268053(uc002axt.2 uc010bjn.1 uc010ulj.1 uc010bjq.3)
    ENST00000498141 ENST00000435365 ENST00000566674 ENST00000450547 ENST00000569662
    ENST00000466978 ENST00000416978 ENST00000467407 ENST00000419019(uc010bjp.1)
    ENST00000541301
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    Additional mRNA sequence: 

    AK056794.1 AK225715.1 AK292300.1 AK292301.1 AK293204.1 AK293211.1 AK300178.1 AK310362.1 
    AY603498.1 BC032329.1 M14565.1 M28253.1 

    23 DOTS entries:

    DT.455430  DT.95254645  DT.100813945  DT.121017955  DT.92440247  DT.101984284  DT.91926659  DT.95254650 
    DT.100728575  DT.92440248  DT.99997399  DT.100671698  DT.100714063  DT.40243605  DT.100728403  DT.100805396 
    DT.100809761  DT.121017947  DT.121017958  DT.121629520  DT.91671342  DT.95254647  DT.95102644 

    24/231 AceView cDNA sequences (see all 231):

    BC032329 CR614174 AU135781 AA576851 CR602305 BF793124 BQ002817 BM563516 
    CR594184 CR626277 AU137976 CR608581 BX356670 CR596946 AV704507 BX356386 
    BM554013 AA333938 CR612104 BI826464 CR616636 AI185653 BI825562 CR591351 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CYP11A1 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
    SP1:                                -     -                                                                     
    SP2:                                      -                                                                     
    SP3:        -     -     -     -     -     -                                                                     
    SP4:                                -                                                                           
    SP5:                                -                                                                           


    ECgene alternative splicing isoforms for CYP11A1

    (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

    CYP11A1 expression in normal human tissues (normalized intensities)      CYP11A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGACAATAA
    CYP11A1 Expression
    About this image


    CYP11A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/23 selected tissues (see all 23) fully expand
     
     Testis (Reproductive System)    fully expand to see all 7 entries
             Testicular Interstitial Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Ovary (Reproductive System)    fully expand to see all 3 entries
             Granulosa Cells Primary Follicle
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   
     
     Adrenal Gland (Endocrine System)    fully expand to see all 2 entries
             adrenal gland ; glandular cells   
             Adrenal Cortex   
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             Syncytiotrophoblast Multinuclear Cells Chorionic Villus
             placenta ; trophoblastic cells   

    See CYP11A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CYP11A1

    SOURCE GeneReport for Unigene cluster: Hs.303980
        SABiosciences Expression via Pathway-Focused PCR Arrays including CYP11A1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat
              Cellular Stress Responses 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CYP11A1 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp11a11 , 5 cytochrome P450, family 11, subfamily a, polypeptide more1, 5 80.18(n)1
    76.41(a)1
      9 (31.63 cM)5
    130701  NM_019779.31  NP_062753.31 
     580150175 
    chicken
    (Gallus gallus)
    Aves CYP11A11 cytochrome P450, family 11, subfamily A, polypeptide more 63.93(n)
    54.32(a)
      414838  NM_001001756.1  NP_001001756.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia AF449175.12   -- 74.88(n)    AF449175.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF527755.12   -- 75.09(n)   80374  AF527755.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dib6
    Cyp12b26
    (see all 12)
    Cyp12b2
    (see all 12)
    24(a)
    23(a)
    (see all 12)
    possible ortholog
    possible ortholog
    (see all 12)
    3L(4062292-4064551)
    2R(14642500-14644588)
    worm
    (Caenorhabditis elegans)
    Secernentea cyp-44A16
    Probable cytochrome P450 CYP44
    25(a)
    possible ortholog
    II(5503966-5506115)


    ENSEMBL Gene Tree for CYP11A1 (if available)
    TreeFam Gene Tree for CYP11A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CYP11A1 gene
    CYP27A12  CYP11B12  CYP24A12  CYP27C12  CYP11B22  CYP27B12  
    4 SIMAP similar genes for CYP11A1 using alignment to 9 protein entries:     CP11A_HUMAN (see all proteins):
    CYP11B1    CYP11B2    CYP27B1    CYP27A1

    CYP11A1 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) 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

    10/630 SNPs in CYP11A1 are shown (see all 630)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0652424
    Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)4--see VAR_0652422 L P mis40--------
    VAR_0169494
    Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)4--see VAR_0169492 A V mis40--------
    VAR_0169514
    Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)4--see VAR_0169512 R W mis40--------
    VAR_0652444
    Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)4--see VAR_0652442 V E mis40--------
    VAR_0652414
    Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)4--see VAR_0652412 L W mis40--------
    VAR_0652434
    Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)4--see VAR_0652432 A V mis40--------
    rs725475081,2
    Cpathogenic154682971(-) TGCTGC/TGGGCA 4 R W mis10--------
    rs1436603191,2
    --54680577(+) TCACCC/TACAGT 2 -- ds50010--------
    rs1472153761,2
    --54680584(+) CAGTTC/TTCGGC 2 -- ds50010--------
    rs1486942181,2
    --54680614(+) CTGGCA/TGGGCC 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for CYP11A1 (74630100 - 74660081 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CYP11A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv2406n71CNV Loss21882294
    esv28469CNV Gain19812545
    nsv510938CNV Complex20534489


    Human Gene Mutation Database (HGMD): CYP11A1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CYP11A1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP11A1

    (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.)
    About This Section
    OMIM gene information: 118485   
    OMIM disorders: 201710  
    UniProtKB/Swiss-Prot: CP11A_HUMAN, P05108
  • Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743]: A rare disorder that can
    present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are elevated and
    adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes
    with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe
    early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure. Patients with
    congenital adrenal insufficiency do not manifest the massive adrenal enlargement typical of congenital lipoid
    adrenal hyperplasia. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/47 diseases for CYP11A1 (see all 47):    About MalaCards
    congenital adrenal insufficiency    adrenal insufficiency, congenital, with 46,xy sex reversal    inherited isolated adrenal insufficiency due to cyp11a1 deficiency    congenital lipoid adrenal hyperplasia
    lipoid adrenal hyperplasia    histidinemia    hyperandrogenism    endocrine diseases
    adrenocortical carcinoma    adrenal adenoma    addison's disease    polycystic ovary syndrome
    smith-lemli-opitz syndrome    ovarian disease    familial prostate cancer    cytochrome p450
    ovarian hyperstimulation syndrome    cushing's syndrome    leydig cell tumor    autoimmune hepatitis

    2 diseases from the University of Copenhagen DISEASES database for CYP11A1:
    Congenital adrenal insufficiency     Histidinemia

    CYP11A1 for disorders           About GeneDecksing

    10/39 Novoseek inferred disease relationships for CYP11A1 gene (see all 39)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipoid congenital adrenal hyperplasia 89.6 12 11502818 (3), 1661294 (2), 8481356 (1), 10856721 (1) (see all 5)
    carcinoma adrenocortical 68.9 2 11869873 (1), 9231058 (1)
    leydig cell tumor 68.4 1 10418988 (1)
    polycystic ovary syndrome 65.8 12 15126571 (2), 18725155 (2), 20450755 (2), 19342032 (1) (see all 6)
    adrenal hyperplasia congenital 65.3 4 7877888 (3)
    adenoma adrenocortical 61.2 3 1820978 (1), 1448379 (1), 1835446 (1)
    polycystic ovaries 60 4 11821083 (2), 15126571 (1), 9455828 (1)
    apeced 57.2 6 15482854 (1), 7523005 (1), 11524733 (1), 9030872 (1)
    addisons disease 56.4 6 8106620 (1), 8626850 (1), 10852471 (1), 7523005 (1) (see all 5)
    choriocarcinoma 54.8 5 10372718 (1), 1309352 (1), 7678794 (1), 16730372 (1) (see all 5)

    Genetic Association Database (GAD): CYP11A1
    Human Genome Epidemiology (HuGE) Navigator: CYP11A1 (45 documents)

    Export disorders for CYP11A1 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 CYP11A1 gene, integrated from 9 sources (see all 549):
    (articles sorted by number of sources associating them with CYP11A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. (PubMed id 18182448)1, 2, 9 Kim C.J....Miller W.L. (2008)
    2. Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency. (PubMed id 11502818)1, 2, 9 Tajima T.... Miller W.L. (2001)
    3. A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient. (PubMed id 19116240)1, 2, 9 Rubtsov P....Tiulpakov A. (2009)
    4. Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans. (PubMed id 12161514)1, 2, 9 Katsumata N....Tanaka T. (2002)
    5. Genetic variation in CYP11A1 and StAR in relation to endometrial cancer risk. (PubMed id 20199803)1, 4, 9 Terry K....De Vivo I. (2010)
    6. Haplotype analysis of CYP11A1 identifies promoter variants associated with breast cancer risk. (PubMed id 17575134)1, 4, 9 Yaspan B.L....Smith J.R. (2007)
    7. Population-based case-control study of CYP11A gene polymorphism and breast cancer risk. (PubMed id 15159300)1, 4, 9 Zheng W....Smith J.R. (2004)
    8. Polymorphisms in steroid hormone biosynthesis genes and risk of breast cancer and fibrocystic breast conditions in Chinese women. (PubMed id 18483327)1, 4, 9 Sakoda L.C....Chen C. (2008)
    9. CYP11A1 and CYP17 promoter polymorphisms associate with hyperandrogenemia in polycystic ovary syndrome. (PubMed id 18725155)1, 4, 9 Pusalkar M....Maitra A. (2008)
    10. Microsatellite polymorphism of steroid hormone synthesis gene CYP11A1 is associated with advanced prostate cancer. (PubMed id 15054879)1, 4, 9 Kumazawa T....Habuchi T. (2004)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1583 HGNC: 2590 AceView: CYP11A1 Ensembl:ENSG00000140459 euGenes: HUgn1583
    ECgene: CYP11A1 Kegg: 1583 H-InvDB: CYP11A1

    (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 CYP11A1 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 CYP11A1 gene:
    Search GeneIP for patents involving CYP11A1

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



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