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FLASH GENE
Symbol CYP11A1 contributors: mct/npt - updated : 21-11-2017
HGNC name cytochrome P450, family 11, subfamily A, polypeptide 1
HGNC id 2590
Corresponding disease
CYP11A1D adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
Location 15q24.1      Physical location : 74.630.102 - 74.660.081
Synonym name
  • cholesterol 20-22 desmolase
  • steroid 20-22-lyase
  • cytochrome P450, subfamily XIA (cholesterol side chain cleavage)
  • cytochrome P450 11A1, mitochondrial
  • Synonym symbol(s) CYP11A , P450SCC, P450, CYPXIA1
    EC.number 1.14.15.6
    DNA
    TYPE functioning gene
    STRUCTURE 29.98 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1936 - 521 - 2017 28991453
    9 - 2010 - 363 - 2017 28991453
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvesselsaorta   
    Endocrineadrenal glandcortex   
    Reproductivemale systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    ReproductiveLeydig cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period puberty, pregnancy
    Text syncytiotrophoblast, prepubertal testis
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated HemoP
    mono polymer monomer
    isoforms Precursor
    HOMOLOGY
    interspecies homolog to rattus cyp11a1
    Homologene
    FAMILY
  • multigenic cytochrome P450 superfamily of mixed-function monooxygenases
  • cytochrome P450, subfamily XIA
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • cholesterol desmolase converting of cholesterol to pregnenolone first and limiting step in the synthesis of steroid hormones
  • catalyzing the first step of steroidogenesis in adrenals and gonads under the control of cAMP-mediated hormonal signals (Guo 2007)
  • is the only known enzyme that cleaves the side chain of cholesterol, yielding pregnenolone, the precursor of all steroid hormones
  • is the first and rate-limiting enzyme in the steroidogenic pathway, converting cholesterol to pregnenolone
  • playing an important role in the metabolism of vitamin D3
  • biosynthesis of steroid hormones in vertebrates is initiated by the cytochrome P450 CYP11A1, which performs the side-chain cleavage of cholesterol thereby producing pregnenolone
  • sex hormones positively regulate the overall production of steroid hormones suggesting the need to reassess the role of CYP11A1 in steroid hormone biosynthesis and its substrate-dependent mechanistic properties
  • likely changes in histone modification and chromatin structure in the CYP11A1 proximal promoter are involved in the rapid increase of CYP11A1 gene expression in granulosa cells (GCs) undergoing luteinization during ovulation
  • catalyzes the conversion of cholesterol to pregnenolone through side chain cleavage inside the mitochondria
  • rate-limiting step in the steroid synthesis pathway is catalyzed by CYP11A1 through three sequential reactions
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism hormone
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NADPH, heme
  • protein
  • flavoprotein P450 oxidoreductase (POR)
  • expression in human granulosa cells is regulated by NR5A2
  • interacting with NR5A1 and JUND (NR5A1 and JUND cooperate to activate CYP11A1 transcription) (Guo 2007)
  • transcription factors stimulate CYP11A1 transcriptional activity through interaction with their specific cis-elements or through protein-protein interaction
  • supports steroid biosynthesis in steroidogenic cells through electron transfer to the rate-limiting steroidogenic enzyme, CYP11A1
  • cell & other
    REGULATION
    Other CYP11A1 expression is increased in activated T cells
    ASSOCIATED DISORDERS
    corresponding disease(s) CYP11A1D
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in severe preeclampsia compared with normal pregnancy in both mRNA and protein levels (pMID!: 23555523)
    Susceptibility
  • to breast cancer
  • to polycystic ovary syndrome (PCOS)
  • Variant & Polymorphism other
  • common variants that may influence expression to significantly modify risk of breast cancer (Yaspan 2007)
  • association between CYP11A1 promoter pentanucleotide repeat polymorphism and PCOS
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS