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

CYP11A1 Gene

protein-coding   GIFtS: 66
GCID: GC15M074630

cytochrome P450, family 11, subfamily A, polypeptide 1

(Previous names: cytochrome P450, subfamily XIA (cholesterol side chain...)
(Previous symbol: CYP11A)
 Explore 63 diseases affiliated with
CYP11A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CYP11A1    

Aliases
for CYP11A1 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 11, Subfamily A, Polypeptide 11 2     Cholesterol 20-22 Desmolase2
CYP11A1 2 3 5     Cholesterol Monooxygenase (Side-Chain Cleaving)2
P450SCC1 2 5     Cholesterol Side-Chain Cleavage Enzyme, Mitochondrial2
Cytochrome P450, Subfamily XIA (Cholesterol Side Chain Cleavage)1 2     Cytochrome P450C11A12
Cytochrome P450 11A12 3     Steroid 20-22-Lyase2
Cytochrome P450(Scc)2 3     Cholesterol Desmolase3
CYPXIA12 3     EC 1.14.158
EC 1.14.15.63 8     

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


Summaries
for CYP11A1 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 CYP11A1:
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)

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)


Genomic Views
for CYP11A1 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_000015.9  NC_018926.1  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

Proteins
for CYP11A1 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: CP11A_HUMAN, P05108 (See protein sequence)
Recommended Name: Cholesterol side-chain cleavage enzyme, mitochondrial precursor  
Size: 521 amino acids; 60102 Da
Cofactor: Heme group (By similarity)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000351455   ENSP00000268053   ENSP00000391081   ENSP00000456941   ENSP00000402064  
     ENSP00000387487   ENSP00000456598   ENSP00000388018   ENSP00000405488   ENSP00000439750  
    Reactome Protein details: P05108
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: CYP11A1
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    Novus Biologicals CYP11A1 Proteins
    Novus Biologicals CYP11A1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn Antibodies for CYP11A1
    ThermoFisher Antibodies for CYP11A1

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    Uscn ELISAs and CLIAs for CYP11A1

    Protein Domains /
    Families
    for CYP11A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CYP11A1 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 P05108

    ProtoNet protein and cluster: P05108

    1 Blocks protein family: IPB002399 Mitochondrial P450 clan signature

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


    Function
    for CYP11A1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

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

    Enzyme Numbers (IUBMB): EC 1.14.15.61 2 EC 1.14.152

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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    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


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


    Pathways & Interactions
    for CYP11A1 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 - 5/10 super-pathways (see all 10) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cytochrome P450 - arranged by substrate type
    		Cytochrome P450 - arranged by substrate type1.00
    		cytochrome P4500.73
    		Phase 1 - Functionalization of compounds0.74
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    3Biological oxidations
    		Biological oxidations1.00
    		metapathway biotransformation0.41
    4PKA activation in glucagon signalling
    		Development_Role of Activin A in cell differentiation and proliferation0.33
    		Development Role of Activin A in cell differentiation and proliferation0.33
    5Vitamin D (calciferol) metabolism
    		Metabolism of steroid hormones and vitamin D0.27
    		Steroid hormones0.27

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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


    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


    2         Kegg Pathways  (Kegg details for CYP11A1):
        Steroid hormone biosynthesis
    Metabolic pathways

    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): 5/59 biological process terms (GO ID links to tree view) (see all 59):    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



    Drugs & Compounds
    for CYP11A1 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

    CYP11A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CYP11A1

    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 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 

    Transcripts
    for CYP11A1 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,
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    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 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
    13 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 ENST00000433240
    ENST00000569662 ENST00000466978 ENST00000416978 ENST00000467407 ENST00000419019(uc010bjp.1)
    ENST00000541301

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    Inhib. RNA
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    Additional cDNA 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):

    CR594184 CR616636 BI829814 AL540349 CR626277 BX359242 CD013982 BX357574 
    AI185653 BQ002817 BM554013 CD013983 BM563516 BX417680 AA333938 AU137976 
    AA576851 BF793124 BC032329 CF528396 CR608581 AU135781 CR602621 CR602305 

    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

    Expression
    for CYP11A1 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

    CYP11A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGACAATAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CYP11A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    7 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryAntral FollicleTheca CellsOvary
    PlacentaChorionic VillusSyncytiotrophoblast Multinuclear CellsExtraembryonic Tissues, Placenta
    TestisTestis InterstitiumLeydig CellsTestis
    TestisTestis InterstitiumPre-Leydig CellsTestis
    OvaryAntral FollicleCumulus CellsOvary
    OvaryPrimary FollicleGranulosa CellsOvary
    TestisSeminiferous TubulesSecondary SpermatocyteGerm Cells, Male Gametocytes
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Syncytiotrophoblast-like cells (Generation of syncyt...)
    Definitive endoderm-like cells (A scalable, suspensi...)

    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

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CYP11A1
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    In Situ
    Assay Products:     
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    Orthologs
    for CYP11A1 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 CYP11A1 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CYP11A11 cytochrome P450, family 11, subfamily A, polypeptide 1 less 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
    Cyp12c16
    (see all 12)    		 Cyp12c1
    (see all 12)    		 23(a)
    23(a)
    (see all 12)    		 possible ortholog
    possible ortholog
    (see all 12)    		 3L(4062292-4064551)
    3L(18677629-18679419)
    worm
    (Caenorhabditis elegans)    		 Secernentea cyp-44A16
    		 Probable cytochrome P450 CYP44
    		 24(a)
    		 possible ortholog
    		 II(5503949-5506098)


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

    Paralogs
    for CYP11A1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CYP11A1 gene
    CYP27A12  CYP11B12  CYP24A12  CYP11B22  CYP27C12  CYP27B12  
    5 SIMAP similar genes for CYP11A1 using alignment to 9 protein entries:     CP11A_HUMAN (see all proteins):
    CYP11B1    CYP11B2    CYP27B1    CYP27A1    CYP24A1

    CYP11A1 for paralogs           About GeneDecksing



    Genomic Variants
    for CYP11A1 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

    10/512 NCBI SNPs in CYP11A1 are shown (see all 512)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 15 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs725475081,2
    		Cpathogenic74632028(-) TGCTGA/C/G/T 
                GGGCA     		8 R G W syn1 mis10--------
    rs1436603191,2
    		--74629634(+) TCACCC/TACAGT 2 -- ds50010--------
    rs1472153761,2
    		--74629641(+) CAGTTC/TTCGGC 2 -- ds50010--------
    rs1486942181,2
    		--74629671(+) CTGGCA/TGGGCC 2 -- ds50010--------
    rs770963841,2
    		F,--74629723(+) GAGTTC/TACCCA 2 -- ds50011Minor allele frequency- T:0.03NA 120
    rs1427657321,2
    		--74629836(+) CTTTGG/TCCTTC 2 -- ds50010--------
    rs1837886281,2
    		C,--74630316(+) GATCAC/TTGCTG 4 Q syn10--------
    rs1506150981,2
    		C,--74630460(+) CAGATA/GGTAGG 2 -- int10--------
    rs1880463581,2
    		--74630543(+) TGATTG/TGAGGA 2 -- int10--------
    rs1397311821,2
    		--74630608(+) TGCACC/GCTTAG 2 -- int10--------

    HapMap Linkage Disequilibrium report for CYP11A1 (74630100 - 74660081 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for CYP11A1
         1 CNV: 66836
         1 Inversion: 37170
    Human Gene Mutation Database (HGMD): CYP11A1

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CYP11A1

    Disorders / Diseases
    for CYP11A1 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
    CYP11A1 for disorders           About GeneDecksing

    OMIM gene information: 118485   
    OMIM disorders: 201710  
    UniProtKB/Swiss-Prot: CP11A_HUMAN, P05108
  • Defects in CYP11A1 are the cause of 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

    20/63 diseases for CYP11A1 (see all 63):    About MalaCards
    adrenal insufficiency, congenital with or without 46, xy sex reversal    cholesterol    xy sex reversal    smith-lemli-opitz syndrome
    dosage-sensitive sex reversal    sex reversal    lipoid congenital adrenal hyperplasia    adrenal hyperplasia
    lipoid adrenal hyperplasia    patent ductus arteriosus    polycystic ovary syndrome    temporal lobe epilepsy
    congenital adrenal insufficiency    leydig cell tumor    delayed puberty    adrenal adenoma
    corpus callosum    premature ovarian failure    adrenal hypoplasia    ovarian hyperstimulation syndrome

    3 diseases from the University of Copenhagen DISEASES database for CYP11A1:
    Congenital adrenal insufficiency     Polycystic ovary syndrome     Histidinemia

    10/39 Novoseek 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

    Publications
    for CYP11A1 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 CYP11A1 gene, integrated from 9 sources (see all 546):
    (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. 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)
    6. 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)
    7. Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone. (PubMed id 15126571)1, 4, 9 Gaasenbeek M....McCarthy M.I. (2004)
    8. A pathway for the metabolism of vitamin D3: unique hydroxylated metabolites formed during catalysis with cytochrome P450scc (CYP11A1). (PubMed id 14657394)6, 7, 9 Guryev O....Estabrook R.W. (2003)
    9. Identifying susceptibility genes for prostate cancer--a family-based association study of polymorphisms in CYP17, CYP19, CYP11A1, and LH-beta. (PubMed id 16103457)1, 4, 9 Douglas J.A....Cooney K.A. (2005)
    10. No association between the microsatellite polymorphism (TTTTA)n in the promoter of the CYP11A gene and ovarian hyperstimulation syndrome. (PubMed id 16391898)1, 4 Ferk P....Teran N. (2006)

    External Searches for CYP11A1 gene

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

    Genome Databases showing CYP11A1 gene

    (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

    Other Databases showing CYP11A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CYP11A1 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 CYP11A1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for CYP11A1 gene

    (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:
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