Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniPathway vocabulary mapping
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
UniProtKB entry P05108 (CP11A_HUMAN), Cholesterol side-chain cleavage enzyme, mitochondrial
Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency.
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Human CYP11A1 variant studies include functional catalytic assays and combined adrenal/gonadal phenotypes. Residual activity varies by allele; avoid stating that every variant abolishes all steroid synthesis.
"the mitochondrial cholesterol side chain cleavage enzyme, is the only enzyme that catalyzes the conversion of cholesterol to pregnenolone and, thus, is required for the biosynthesis of all steroid hormones"
Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.
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Human CYP11A1 variant studies include functional catalytic assays and combined adrenal/gonadal phenotypes. Residual activity varies by allele; avoid stating that every variant abolishes all steroid synthesis.
"Mitochondrial cytochrome P450scc converts cholesterol to pregnenolone in all steroidogenic tissues"
Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system.
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Full text read after supported refresh. Human CYP11A1, adrenodoxin and reductase constructs were used in reconstitution/crystallography; bovine comparisons in the discussion are not the target experiment. Establishes the three-step chemistry and heme/ferredoxin electron-transfer geometry.
"the precursor to all steroid hormones, pregnenolone, is synthesized from cholesterol by an enzyme complex comprising adrenodoxin reductase (AdR), adrenodoxin (Adx), and a cytochrome P450 (P450scc or CYP11A1)"
Novel interactive partners of neuroligin 3: new aspects for pathogenesis of autism.
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Original protein-interaction source inspected. The interaction annotation is retained as provenance but generic protein binding is removed as functionally uninformative; no assertion that the physical interaction is false.
"The interactions of NLGN3 with a subset of candidates, including EEF1A1, FLNA, ITPRIP, CYP11A1, MT-CO2, GPR175, ACOT2, and QPRT, were further validated"
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.
Oxidation of cholesterol to 22beta-hydroxycholesterol
Oxidation of 22beta-hydroxycholesterol to 20alpha,22beta-hydroxycholesterol
CYP11A1 cleaves 20a,22b-DHCHOL
Pregnenolone biosynthesis
Defective CYP11A1 does not cleave 20a,22b-DHCHOL
In vivo evidence for a novel pathway of vitamin D₃ metabolism initiated by P450scc and modified by CYP27B1.
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Human keratinocytes produce CYP11A1-pathway vitamin D metabolites.
"We also detected endogenous production of 20(OH)D3, 22(OH) D3, 20,23(OH)(2)D3, 20,22(OH)(2)D3, and 17,20,23(OH)(3)D3 by immortalized human keratinocytes."
Regulated expression of cytochrome P-450scc (cholesterol-side-chain cleavage enzyme) in cultured cell lines detected by antibody against bacterially expressed human protein.
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Primary cAMP-induction study includes human JEG-3 and mouse Y1 cells. Supports downstream hormonal regulation of CYP11A1 synthesis, not direct binding or sensing of peptide hormones.
"The production of P-450scc in Y1 and JEG-3 cells was stimulated by 8-bromo cyclic AMP"