Javascript is not enabled on this browser. This site will not work properly without Javascript.
PhosphoSitePlus Homepage Cell Signaling Technology
PhosphoSitePlus
HomeAbout PhosphoSiteUsing PhosphoSiteCuration ProcessContact
NIH-logos NIGMS Logo NIAAA Logo NCI Logo NIH Logo
Protein Page:
CYP11A1 (human)

Overview
CYP11A1 Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone. Defects in CYP11A1 are the cause of adrenal insufficiency congenital with 46,XY sex reversal (AICSR). 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. Belongs to the cytochrome P450 family. Note: This description may include information from UniProtKB.
Protein type: Mitochondrial; EC 1.14.15.6; Lipid Metabolism - C21-steroid hormone; Oxidoreductase
Cellular Component: mitochondrial crista; mitochondrion; mitochondrial matrix; perikaryon
Molecular Function: cholesterol monooxygenase (side-chain-cleaving) activity; iron ion binding; cholesterol binding; heme binding
Biological Process: steroid metabolic process; response to alkaloid; maternal process involved in pregnancy; dibenzo-p-dioxin metabolic process; response to insecticide; estrogen biosynthetic process; response to L-ascorbic acid; response to salt stress; response to vitamin E; Leydig cell differentiation; biphenyl metabolic process; cerebellum development; response to gamma radiation; response to corticosterone stimulus; response to drug; cholesterol metabolic process; progesterone biosynthetic process; fractalkine metabolic process; hippocampus development; phthalate metabolic process; mating behavior; vitamin D metabolic process; Schwann cell differentiation; response to genistein; response to hydrogen peroxide; xenobiotic metabolic process; C21-steroid hormone biosynthetic process; sterol metabolic process; granulosa cell differentiation; phenol metabolic process
Reference #:  P05108 (UniProtKB)
Alt. Names/Synonyms: cholesterol 20-22 desmolase; Cholesterol desmolase; cholesterol monooxygenase (side-chain cleaving); Cholesterol side-chain cleavage enzyme, mitochondrial; CP11A; CYP11A; CYP11A1; CYPXIA1; Cytochrome P450 11A1; Cytochrome P450(scc); cytochrome P450, family 11, subfamily A, polypeptide 1; cytochrome P450, subfamily XIA (cholesterol side chain cleavage); cytochrome P450C11A1; P450SCC; steroid 20-22-lyase
Gene Symbols: CYP11A1
Molecular weight: 60,102 Da
Basal Isoelectric point: 8.89  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
Select Structure to View Below

CYP11A1

Protein Structure Not Found.


STRING  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  DISEASE  |  Scansite  |  Pfam  |  RCSB PDB  |  ENZYME  |  Phospho3D  |  Phospho.ELM  |  NetworKIN  |  Source  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene  |  InnateDB


Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 S113-p DVALLFKsEGPNPER
0 1 T164-p EVMAPEAtKNFLPLL
  mouse

 
C110 DASILFSCEGPNPER
I161 EVMAPGAIKNFVPLL
  rat

 
C111 DAATLFSCEGPNPER
I162 EVMAPDSIKNFVPLL
  cow

 
F113 DVAHLFKFEGSYPER
I164 EVMAPEAIKNFIPLL
Home  |  Curator Login With enhanced literature mining using Linguamatics I2E I2E Logo Produced by 3rd Millennium  |  Design by Digizyme
©2003-2013 Cell Signaling Technology, Inc.