Showing entry for Cholesterol side-chain cleavage enzyme, mitochondrial


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT006317
Protein NameCholesterol side-chain cleavage enzyme, mitochondrial
Uniport IdP05108
GeneCYP11A1
Gene Id1583
Domainp450
Pfam PF00067  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.3 Lipid metabolism hsa00140 Steroid hormone biosynthesis
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
5. Organismal Systems 5.2 Endocrine system hsa04913 Ovarian steroidogenesis
5. Organismal Systems 5.2 Endocrine system hsa04925 Aldosterone synthesis and secretion
5. Organismal Systems 5.2 Endocrine system hsa04927 Cortisol synthesis and secretion
6. Human Diseases 6.7 Endocrine and metabolic diseases hsa04934 Cushing syndrome
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0006700 C21-steroid hormone biosynthetic process
Biological Process GO:0071375 cellular response to peptide hormone stimulus
Biological Process GO:0008203 cholesterol metabolic process
Biological Process GO:0034650 cortisol metabolic process
Biological Process GO:0006704 glucocorticoid biosynthetic process
Biological Process GO:0016125 sterol metabolic process
Biological Process GO:0042359 vitamin D metabolic process
molecular function GO:0008386 cholesterol monooxygenase (side-chain-cleaving) activity
molecular function GO:0020037 heme binding
molecular function GO:0005506 iron ion binding
cellular component GO:0005743 mitochondrial inner membrane
cellular component GO:0005759 mitochondrial matrix
cellular component GO:0005739 mitochondrion
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-1643685 Disease
R-HSA-196071 Metabolism of steroid hormones
R-HSA-196108 Pregnenolone biosynthesis
R-HSA-211859 Biological oxidations
R-HSA-211897 Cytochrome P450 - arranged by substrate type
R-HSA-211945 Phase I - Functionalization of compounds
R-HSA-211976 Endogenous sterols
R-HSA-556833 Metabolism of lipids
R-HSA-5579026 Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)
R-HSA-5579029 Metabolic disorders of biological oxidation enzymes
R-HSA-5668914 Diseases of metabolism
R-HSA-8957322 Metabolism of steroids
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0001122 BXGD000023 Acidosis Nutritional and Metabolic Diseases
C0001403 BXGD000048 Addison Disease Immune System Diseases; Endocrine System Diseases
C0001430 BXGD000054 Adenoma Neoplasms
C0001623 BXGD000066 Adrenal gland hypofunction Endocrine System Diseases
C0001627 BXGD000068 Congenital adrenal hyperplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0004096 BXGD000252 Asthma Respiratory Tract Diseases; Immune System Diseases
C0005890 BXGD000345 Body Height
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006145 BXGD000376 Breast Diseases Skin and Connective Tissue Diseases
C0007103 BXGD000426 Malignant neoplasm of endometrium Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0008354 BXGD000533 Cholera Infections
C0008497 BXGD000549 Choriocarcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0011175 BXGD000701 Dehydration Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0011853 BXGD000752 Diabetes Mellitus, Experimental Nutritional and Metabolic Diseases; Endocrine System Diseases
C0011860 BXGD000755 Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases; Endocrine System Diseases
C0014170 BXGD000902 Endometrial Neoplasms Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0014173 BXGD000903 Endometrial Hyperplasia Female Urogenital Diseases and Pregnancy Complications
C0014175 BXGD000904 Endometriosis Female Urogenital Diseases and Pregnancy Complications
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0015625 BXGD001006 Fanconi Anemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C0015934 BXGD001026 Fetal Growth Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0016034 BXGD001034 Breast Fibrocystic Disease Skin and Connective Tissue Diseases
C0018418 BXGD001192 Gynecomastia Skin and Connective Tissue Diseases
C0018553 BXGD001203 Hamartoma Syndrome, Multiple Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C0018800 BXGD001225 Cardiomegaly Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0018817 BXGD001235 Atrial Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0019360 BXGD001327 Herpes zoster disease Infections
C0020428 BXGD001377 Hyperaldosteronism Endocrine System Diseases
C0020456 BXGD001392 Hyperglycemia Nutritional and Metabolic Diseases
C0020461 BXGD001395 Hyperkalemia Nutritional and Metabolic Diseases
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0020619 BXGD001447 Hypogonadism Endocrine System Diseases
C0020625 BXGD001451 Hyponatremia Nutritional and Metabolic Diseases
C0020649 BXGD001459 Hypotension Cardiovascular Diseases
C0022333 BXGD001534 Jacksonian Seizure Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0023903 BXGD001720 Liver neoplasms Digestive System Diseases; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027720 BXGD002028 Nephrosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0029453 BXGD002154 Osteopenia Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029456 BXGD002157 Osteoporosis Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0032460 BXGD002355 Polycystic Ovary Syndrome Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0033578 BXGD002408 Prostatic Neoplasms Neoplasms; Male Urogenital Diseases
C0034012 BXGD002449 Delayed Puberty Endocrine System Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036875 BXGD002640 Disorders of Sex Development Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0037899 BXGD002710 Sphingolipidoses Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0038220 BXGD002740 Status Epilepticus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0042963 BXGD003018 Vomiting Pathological Conditions, Signs and Symptoms
C0085083 BXGD003120 Ovarian Hyperstimulation Syndrome Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0149516 BXGD003324 Chronic sinusitis Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0149940 BXGD003391 Sciatic Neuropathy Nervous System Diseases
C0149958 BXGD003395 Complex partial seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151526 BXGD003432 Premature Birth Female Urogenital Diseases and Pregnancy Complications
C0156394 BXGD003856 Hypertrophy of clitoris Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0158986 BXGD003916 Neonatal hypoglycemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0162635 BXGD003964 Angelman Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0162834 BXGD003988 Hyperpigmentation Skin and Connective Tissue Diseases
C0175701 BXGD004007 Aarskog syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
C0175754 BXGD004015 Agenesis of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0206081 BXGD004152 Hyperandrogenism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0206667 BXGD004228 Adrenal Cortical Adenoma Neoplasms; Endocrine System Diseases
C0206686 BXGD004241 Adrenocortical carcinoma Neoplasms; Endocrine System Diseases
C0220766 BXGD004341 Congenital hypoplasia of adrenal gland Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
C0232466 BXGD004543 Feeding difficulties
C0234533 BXGD004687 Generalized seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234535 BXGD004688 Clonic Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0238395 BXGD004922 Male Pseudohermaphroditism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0240783 BXGD005054 Increased circulating renin level
C0241355 BXGD005092 Small testicle
C0264408 BXGD005387 Childhood asthma Respiratory Tract Diseases; Immune System Diseases
C0270824 BXGD006113 Visual seizure Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0270844 BXGD006115 Tonic Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0270846 BXGD006116 Epileptic drop attack Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0271160 BXGD006166 Cortical cataract Eye Diseases
C0271750 BXGD006256 Adrenal calcification Endocrine System Diseases
C0279626 BXGD006657 Squamous cell carcinoma of esophagus Digestive System Diseases; Neoplasms
C0342474 BXGD007485 Lipoid congenital adrenal hyperplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0342482 BXGD007486 X-linked Adrenal Hypoplasia Endocrine System Diseases
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0405580 BXGD008325 Adrenal cortical hypofunction Endocrine System Diseases
C0422850 BXGD008457 Seizures, Somatosensory Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0422852 BXGD008458 Seizures, Auditory Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0422853 BXGD008459 Olfactory seizure Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0422854 BXGD008460 Gustatory seizure Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0422855 BXGD008461 Vertiginous seizure Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0425913 BXGD008554 Uterus absent (finding)
C0429468 BXGD008651 Anovulatory (finding) Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0452147 BXGD008832 Hypospadias, penoscrotal Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0476089 BXGD008977 Endometrial Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0494475 BXGD009030 Tonic - clonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0520463 BXGD009085 Chronic active hepatitis Digestive System Diseases
C0520927 BXGD009124 Decreased fertility
C0524528 BXGD009229 Pervasive Development Disorder Mental Disorders
C0541764 BXGD009259 Delayed bone age
C0546884 BXGD009345 Hypovolemia Pathological Conditions, Signs and Symptoms
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0700225 BXGD009882 Serum creatinine raised Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0747845 BXGD010184 early pregnancy
C0751056 BXGD010306 Non-epileptic convulsion Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751110 BXGD010318 Single Seizure Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751123 BXGD010326 Atonic Absence Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751494 BXGD010472 Convulsive Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751495 BXGD010473 Seizures, Focal Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751496 BXGD010474 Seizures, Sensory Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0848558 BXGD010882 Hypospadias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0853662 BXGD010975 Oestrogen deficiency
C0857175 BXGD011140 Postinfarction
C0857899 BXGD011166 Decreased circulating aldosterone level Immune System Diseases; Endocrine System Diseases
C0877008 BXGD011325 Enzyme inhibition disorder
C1285291 BXGD012170 Fetal ascites Pathological Conditions, Signs and Symptoms
C1384583 BXGD012942 Congenital absence of germinal epithelium of testes Male Urogenital Diseases
C1458155 BXGD013136 Mammary Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C1510586 BXGD013176 Autism Spectrum Disorders Mental Disorders
C1691215 BXGD013491 Penile hypospadias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1704272 BXGD013537 Benign Prostatic Hyperplasia Male Urogenital Diseases
C1739135 BXGD013733 Progression of prostate cancer
C1836623 BXGD014139 Decreased circulating cortisol level Immune System Diseases; Endocrine System Diseases
C1846223 BXGD014792 Adrenal hypoplasia
C1846347 BXGD014802 Renal salt wasting
C1848178 BXGD014909 Female external genitalia in individual with 46,XY karyotype
C1848296 BXGD014918 DOSAGE-SENSITIVE SEX REVERSAL Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C1853926 BXGD015365 NONAKA MYOPATHY Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1857276 BXGD015688 Trichohepatoenteric Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2315100 BXGD017021 Pediatric failure to thrive Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
C2751824 BXGD017742 46, XY Disorders of Sex Development Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C2930619 BXGD017890 Sex Differentiation Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C3151055 BXGD018376 ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
C3278923 BXGD018748 Dilated ventricles (finding)
C3280392 BXGD018826 EDICT syndrome
C3489793 BXGD018950 46,XY Sex Reversal 3 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C3495874 BXGD019008 Nonepileptic Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3496069 BXGD019017 cocaine use
C3502131 BXGD019041 Adrenal Insufficiency, Congenital Endocrine System Diseases
C3502132 BXGD019042 Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C3671887 BXGD019330 Hypernatriuria
C3887638 BXGD019906 Failure to thrive in infant Pathological Conditions, Signs and Symptoms
C3887896 BXGD019925 Primary Adrenal Insufficiency
C4021124 BXGD020560 Adrenocorticotropic hormone excess Nervous System Diseases; Endocrine System Diseases
C4021550 BXGD020666 Elevated circulating follicle stimulating hormone level
C4021551 BXGD020667 Absence of secondary sex characteristics
C4021740 BXGD020748 Increased circulating ACTH level
C4021823 BXGD020808 Ambiguous genitalia, male Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C4021972 BXGD020849 Urogenital sinus anomaly
C4022708 BXGD020966 Midshaft hypospadias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C4022829 BXGD021008 Abnormal urine potassium concentration
C4022995 BXGD021056 Sex reversal
C4023101 BXGD021106 Elevated circulating luteinizing hormone level
C4023703 BXGD021249 Abnormality of the Leydig cells
C4024734 BXGD021394 Low maternal serum estriol
C4024842 BXGD021435 Generalized bronze hyperpigmentation
C4048158 BXGD021890 Convulsions Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4072894 BXGD022015 Decreased circulating androgen level
C4072908 BXGD022022 Induced vaginal delivery
C4284088 BXGD022434 MIRAGE SYNDROME Pathological Conditions, Signs and Symptoms
C4316903 BXGD022711 Absence Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4317109 BXGD022725 Epileptic Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4317123 BXGD022727 Myoclonic Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4331349 BXGD022813 Steroidogenic Acute Regulatory Protein Deficiency
C4476786 BXGD022868 Testicular adrenal rest tumor Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
C4505436 BXGD022962 Generalized Absence Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4707238 BXGD023711 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0008676 Haem 616.49
BXGC0038316 Cholesterol 386.35
BXGC0046139 Aminoglutethimide 232.12
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein