MGP Database

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MGP000775

Ontology/Pathway Information

Entrez Gene ID1593
Gene Namecytochrome P450, family 27, subfamily A, polypeptide 1
Gene Symbol CYP27A1
SpeciesHomo sapiens
Gene Ontology (GO Annotations)
GO IDSourceTypeDescription
GO:0005743 IEA:EnsemblCmitochondrial inner membrane
GO:0005759 TAS:ReactomeCmitochondrial matrix
GO:0047749 IEA:UniProtKB-ECFcholestanetriol 26-monooxygenase activity
GO:0031073 IEA:EnsemblFcholesterol 26-hydroxylase activity
GO:0020037 IEA:InterProFheme binding
GO:0005506 IEA:InterProFiron ion binding
GO:0008395 TAS:ProtIncFsteroid hydroxylase activity
GO:0030343 IEA:EnsemblFvitamin D3 25-hydroxylase activity
GO:0006699 TAS:ReactomePbile acid biosynthetic process
GO:0008206 TAS:ReactomePbile acid metabolic process
GO:0008203 IEA:EnsemblPcholesterol metabolic process
GO:0044281 TAS:ReactomePsmall molecule metabolic process
GO:0016125 TAS:ReactomePsterol metabolic process
GO:0006805 TAS:ReactomePxenobiotic metabolic process
REACTOME Pathway Links
REACTOME Pathway IDDescription
REACT_11040Bile acid and bile salt metabolism
REACT_13433Biological oxidations
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_11054Synthesis of bile acids and bile salts
REACT_11053Synthesis of bile acids and bile salts via 24-hydroxycholesterol
REACT_11048Synthesis of bile acids and bile salts via 27-hydroxycholesterol
REACT_11041Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
SMP Pathway Links
SMP IDDescription
SMP0072027-Hydroxylase Deficiency
SMP00035Bile Acid Biosynthesis
SMP00315Cerebrotendinous Xanthomatosis (CTX)
SMP00314Congenital Bile Acid Synthesis Defect Type II
SMP00318Congenital Bile Acid Synthesis Defect Type III
SMP00317Familial Hypercholanemia (FHCA)
SMP00316Zellweger Syndrome
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