MGP Database

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MGP000777

Ontology/Pathway Information

Entrez Gene ID1595
Gene Namecytochrome P450, family 51, subfamily A, polypeptide 1
Gene Symbol CYP51A1
SpeciesHomo sapiens
Gene Ontology (GO Annotations)
GO IDSourceTypeDescription
GO:0005783 IDA:HPACendoplasmic reticulum
GO:0005789 TAS:ReactomeCendoplasmic reticulum membrane
GO:0016021 IEA:UniProtKB-KWCintegral component of membrane
GO:0016020 IDA:UniProtKBCmembrane
GO:0020037 IDA:UniProtKBFheme binding
GO:0005506 IEA:InterProFiron ion binding
GO:0008398 IDA:UniProtKBFsterol 14-demethylase activity
GO:0006695 TAS:ReactomePcholesterol biosynthetic process
GO:0033488 IEA:EnsemblPcholesterol biosynthetic process via 24,25-dihydrolanosterol
GO:0070988 IDA:GOCPdemethylation
GO:0044281 TAS:ReactomePsmall molecule metabolic process
GO:0006694 IDA:UniProtKBPsteroid biosynthetic process
GO:0016125 TAS:ReactomePsterol metabolic process
GO:0006805 TAS:ReactomePxenobiotic metabolic process
REACTOME Pathway Links
REACTOME Pathway IDDescription
REACT_147904Activation of gene expression by SREBF (SREBP)
REACT_13433Biological oxidations
REACT_9405Cholesterol biosynthesis
REACT_13567Cytochrome P450 - arranged by substrate type
REACT_268767Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)
REACT_268601Defective CYP11B1 causes Adrenal hyperplasia 4 (AH4)
REACT_268761Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency)
REACT_268217Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5)
REACT_268478Defective CYP19A1 causes Aromatase excess syndrome (AEXS)
REACT_268087Defective CYP1B1 causes Glaucoma
REACT_267893Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3)
REACT_268803Defective CYP24A1 causes Hypercalcemia, infantile (HCAI)
REACT_268108Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)
REACT_267734Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4)
REACT_268413Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX)
REACT_268633Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A)
REACT_268491Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B)
REACT_268326Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56)
REACT_268441Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5)
REACT_267709Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3)
REACT_268486Defective FMO3 causes Trimethylaminuria (TMAU)
REACT_267863Defective MAOA causes Brunner syndrome (BRUNS)
REACT_268528Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD)
REACT_116125Disease
REACT_13812Endogenous sterols
REACT_267615Metabolic disorders of biological oxidation enzymes
REACT_111217Metabolism
REACT_22258Metabolism of lipids and lipoproteins
REACT_13705Phase 1 - Functionalization of compounds
REACT_147797Regulation of cholesterol biosynthesis by SREBP (SREBF)
SMP Pathway Links
SMP IDDescription
SMP00095Alendronate Action Pathway
SMP00131Atorvastatin Action Pathway
SMP00111Cerivastatin Action Pathway
SMP00387CHILD Syndrome
SMP00508Cholesteryl ester storage disease
SMP00388Chondrodysplasia Punctata II, X Linked Dominant (CDPX2)
SMP00386Desmosterolosis
SMP00119Fluvastatin Action Pathway
SMP00209Hypercholesterolemia
SMP00509Hyper-IgD syndrome
SMP00079Ibandronate Action Pathway
SMP00099Lovastatin Action Pathway
SMP00319Lysosomal Acid Lipase Deficiency (Wolman Disease)
SMP00510Mevalonic aciduria
SMP00117Pamidronate Action Pathway
SMP00089Pravastatin Action Pathway
SMP00112Risedronate Action Pathway
SMP00092Rosuvastatin Action Pathway
SMP00082Simvastatin Action Pathway
SMP00389Smith-Lemli-Opitz Syndrome (SLOS)
SMP00023Steroid Biosynthesis
SMP00511Wolman disease
SMP00107Zoledronate Action Pathway
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