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CYP11A1 Gene

protein-coding   GIFtS: 67
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)
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Aliases
Cytochrome P450, Family 11, Subfamily A, Polypeptide 11 2     Cholesterol Monooxygenase (Side-Chain-Cleaving)1
CYP11A1 2 3     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 inherited isolated adrenal insufficiency due to cyp11a1 deficiency. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   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 Chromatin IP Primers for CYP11A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: 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
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

Selected DME Specific Peptides for CYP11A1 (P05108) (see all 20)
 GVRQCLG  NLYHFWR  AGGVDTT  LQWHLYE 


See CYP11A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

CYP11A1 Human Recombinant Protein Products:

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Novus Biologicals CYP11A1 Proteins
Novus Biologicals CYP11A1 Lysates
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CYP11A1 Antibody Products:

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Cloud-Clone Corp. CLIAs for CYP11A1


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

IUPHAR Guide to PHARMACOLOGY protein family classification: 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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: 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): Selected molecular function terms (see all 6):    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:0015485cholesterol binding IEA--
GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
     
CYP11A1 for ontologies           About GeneDecksing


Phenotypes:
     12 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Cyp11a1):
 behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body  hematopoietic system 
 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: Let us create your new Knockout/Knockin mouse model for CYP11A1
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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

miRNA
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Inhib. RNA
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OriGene RNAi products in human, mouse, rat for CYP11A1
Predesigned siRNA for gene silencing in human, mouse, rat CYP11A1

Gene Editing
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OriGene clones in human, mouse for CYP11A1 (see all 12)
OriGene ORF clones in mouse, rat for CYP11A1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): CYP11A1 (NM_000781)
Sino Biological Human cDNA Clone for CYP11A1
DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYP11A1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP11A1

Cell Line
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GenScript Custom overexpressing Cell Line Services for CYP11A1
Browse ESI BIO Cell Lines and PureStem Progenitors for CYP11A1 
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP11A1


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
CP11A_HUMAN, P05108: Mitochondrion membrane
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion5
cytosol2
nucleus1

Gene Ontology (GO): 5 cellular component terms:    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


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for CYP11A1 About   (see all 10)  
See pathways by source

SuperPathContained pathways About
1Cytochrome P450 - arranged by substrate type
Cytochrome P450 - arranged by substrate type0.75
cytochrome P4500.74
Phase 1 - Functionalization of compounds0.75
Endogenous sterols0.00
2Metabolism
Metabolism0.38
Metabolism of lipids and lipoproteins0.37
Metabolic pathways0.38
3Biological oxidations
Biological oxidations0.56
metapathway biotransformation0.42
4Steroid hormone biosynthesis
Steroid hormone biosynthesis
Glucocorticoid andamp; Mineralcorticoid Metabolism0.00
5Metabolism of steroid hormones and vitamin D
Pregnenolone biosynthesis0.00
Metabolism of steroid hormones and vitamin D

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


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

5 BioSystems Pathways for CYP11A1
    cytochrome P450
Prostaglandin Synthesis and Regulation
Corticotropin-releasing hormone
metapathway biotransformation
Glucocorticoid & Mineralcorticoid Metabolism


2 Reactome Pathways for CYP11A1
    Endogenous sterols
Pregnenolone biosynthesis


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

    Pathway & Disease-focused RT2 Profiler 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

Interactions:

    GeneGlobe Interaction Network for CYP11A1

STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

Selected Interacting proteins for CYP11A1 (P051082, 3 ENSP000002680534) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
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
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Gene Ontology (GO): Selected biological process terms (see all 60):    About this table

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

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

Browse Tocris compounds for CYP11A1 (CP11A)

Selected 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--

Selected 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

Selected 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)



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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for 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
miRNA
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Clone
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OriGene ORF clones in mouse, rat for CYP11A1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): CYP11A1 (NM_000781)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYP11A1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP11A1
Primer
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CYP11A1
  QuantiTect SYBR Green Assays in human, mouse, rat CYP11A1
  QuantiFast Probe-based Assays in human, mouse, rat CYP11A1

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 

Selected AceView cDNA sequences (see all 231):

BF793124 BX106463 BX357574 BI826464 CR625769 AA333938 BQ002817 BX343816 
CR602621 CD013983 BX356386 BI829814 BM554013 CR612104 AU135781 AU135778 
BX417680 AI185653 CR602305 AY603498 AV704507 CD013984 AU137976 CR614174 

GeneLoc Exon Structure

Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CYP11A1 expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 7) fully expand
 
 Testis (Reproductive System)    fully expand to see all 5 entries
         Testicular Interstitial Cells Testis Interstitium
 
 Ovary (Reproductive System)    fully expand to see all 2 entries
         Granulosa Cells Primary Follicle
 
 Trophoblast (Extraembryonic Tissues)
         Trophoblast Cells Trophoblast
 
 Neurons
         GABAergic Amacrine Cells Inner Nuclear Layer
 
 Placenta (Extraembryonic Tissues)
         Syncytiotrophoblast-like cells
CYP11A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CYP11A1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.303980
    Pathway & Disease-focused RT2 Profiler 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)
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This gene was present in the common ancestor of animals.

Orthologs for CYP11A1 gene from Selected species (see all 15)    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 64.06(n)
54.55(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
shd6
shade
24(a)
23(a)
many ↔ many
many ↔ many
3L(4062292-4064551)
3L(14607558-14615305)
worm
(Caenorhabditis elegans)
Secernentea cyp-44A16
Protein CYP-44A1 (cyp-44A1) mRNA, complete cds
25(a)
1 → many
II(5503966-5506115) WBGene00000375


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)
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Paralogs for CYP11A1 gene
CYP27A12  CYP19A12  CYP11B12  CYP24A12  CYP46A12  CYP11B22  CYP27C12  CYP27B12  
4 SIMAP similar genes for CYP11A1 using alignment to 8 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CYP11A1 (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
Site Specific Mutation Identification with 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.)
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OMIM gene information: 118485   
OMIM disorders: 613743  
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

  • Selected diseases for CYP11A1 (see all 52):    
    About MalaCards
    congenital adrenal insufficiency    inherited isolated adrenal insufficiency due to cyp11a1 deficiency    lipoid adrenal hyperplasia    histidinemia
    dosage-sensitive sex reversal    hyperandrogenism    congenital adrenal hyperplasia    addison's disease
    adrenal adenoma    adrenocortical carcinoma    smith-lemli-opitz syndrome    polycystic ovary syndrome
    ovarian disease    cushing's syndrome    ovarian hyperstimulation syndrome    leydig cell tumor
    hyperaldosteronism    asperger syndrome    patent ductus arteriosus    cholera

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

    CYP11A1 for disorders           About GeneDecksing

    Selected 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)
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    PubMed articles for CYP11A1 gene, integrated from 10 sources (see all 551):
    (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. (J. Clin. Endocrinol. Metab. 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. (J. Clin. Endocrinol. Metab. 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. (J. Clin. Endocrinol. Metab. 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. (J. Clin. Endocrinol. Metab. 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. (Gynecol. Oncol. 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. (Cancer Res. 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. (amp 2004)
    8. CYP11A1 and CYP17 promoter polymorphisms associate with hyperandrogenemia in polycystic ovary syndrome. (PubMed id 18725155)1, 4, 9 Pusalkar M....Maitra A. (Fertil. Steril. 2009)
    9. 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. (amp 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. (Int. J. Cancer 2004)

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

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

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

    (According to HUGE)
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      --

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