UniProt:Q02318 CYP27A1

chain
  • transit peptide:1-33
  • chain:34-531
checksum 62025EB670DBD8E9
comment
  • FUNCTION Cytochrome P450 monooxygenase that catalyzes regio- and stereospecific hydroxylation of cholesterol and its derivatives. Hydroxylates (with R stereochemistry) the terminal methyl group of cholesterol side-chain in a three step reaction to yield at first a C26 alcohol, then a C26 aldehyde and finally a C26 acid (PubMed:9660774, PubMed:12077124, PubMed:21411718, PubMed:28190002). Regulates cholesterol homeostasis by catalyzing the conversion of excess cholesterol to bile acids via both the 'neutral' (classic) and the 'acid' (alternative) pathways (PubMed:9660774, PubMed:1708392, PubMed:11412116, PubMed:2019602, PubMed:7915755, PubMed:9186905, PubMed:9790667). May also regulate cholesterol homeostasis via generation of active oxysterols, which act as ligands for NR1H2 and NR1H3 nuclear receptors, modulating the transcription of genes involved in lipid metabolism (PubMed:9660774, PubMed:12077124). Plays a role in cholestanol metabolism in the cerebellum. Similarly to cholesterol, hydroxylates cholestanol and may facilitate sterol diffusion through the blood-brain barrier to the systemic circulation for further degradation (PubMed:28190002). Also hydroxylates retinal 7-ketocholesterol, a noxious oxysterol with pro-inflammatory and pro-apoptotic effects, and may play a role in its elimination from the retinal pigment epithelium (PubMed:21411718). May play a redundant role in vitamin D biosynthesis. Catalyzes 25-hydroxylation of vitamin D3 that is required for its conversion to a functionally active form (PubMed:15465040).PATHWAY Hormone biosynthesis; cholecalciferol biosynthesis.PATHWAY Steroid metabolism; cholesterol degradation.PATHWAY Lipid metabolism; bile acid biosynthesis.SUBUNIT Interacts with HSP70; this interaction is required for initial targeting to mitochondria.TISSUE SPECIFICITY Expressed in the neural retina and underlying retinal pigment epithelium (at protein level) (PubMed:21411718). Expressed in the gray and white matter of cerebellum (at protein level) (PubMed:28190002).SIMILARITY Belongs to the cytochrome P450 family.
crossReference
databaseName UniProt
dbId 52634
description
  • recommendedName: fullName evidence="1"Sterol 26-hydroxylase, mitochondrial ecNumber evidence="5 9 10 13 14 16"1.14.15.15/ecNumber alternativeName: fullName evidence="18"5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 26-hydroxylase alternativeName: Cytochrome P-450C27/25 alternativeName: Cytochrome P450 27 alternativeName: fullName evidence="18"Sterol 27-hydroxylase alternativeName: fullName evidence="17"Vitamin D(3) 25-hydroxylase
displayName UniProt:Q02318 CYP27A1
geneName
  • CYP27A1
  • CYP27
identifier Q02318
isSequenceChanged false
keyword
  • 3D-structure
  • Acetylation
  • Cataract
  • Cholesterol metabolism
  • Disease variant
  • Heme
  • Iron
  • Lipid biosynthesis
  • Lipid metabolism
  • Membrane
  • Metal-binding
  • Mitochondrion
  • Mitochondrion inner membrane
  • Monooxygenase
  • Oxidoreductase
  • Reference proteome
  • Steroid biosynthesis
  • Steroid metabolism
  • Sterol metabolism
  • Transit peptide
modified [InstanceEdit:11703684] Shorser, Solomon, 2021-05-28
name
  • CYP27A1
otherIdentifier
  • 0006130152
  • 11731430_a_at
  • 1593
  • 16891082
  • 203979_at
  • 2528094
  • 2528095
  • 2528096
  • 2528107
  • 2528108
  • 2528110
  • 2528111
  • 2528112
  • 2528113
  • 2528114
  • 2528115
  • 2528116
  • 2528117
  • 2528118
  • 8048432
  • 999_at
  • A_33_P3361422
  • GO:0003674
  • GO:0004497
  • GO:0005506
  • GO:0005575
  • GO:0005622
  • GO:0005737
  • GO:0005739
  • GO:0005743
  • GO:0005759
  • GO:0006629
  • GO:0006694
  • GO:0006699
  • GO:0006707
  • GO:0008150
  • GO:0008202
  • GO:0008203
  • GO:0008395
  • GO:0009056
  • GO:0009058
  • GO:0016020
  • GO:0016125
  • GO:0016491
  • GO:0016705
  • GO:0020037
  • GO:0030343
  • GO:0031073
  • GO:0036378
  • GO:0043167
  • GO:0043226
  • GO:0044281
  • GO:0046872
  • GO:0047748
  • GO:0047749
  • GO:0055114
  • HMNXSV003001072
  • ILMN_1704985
  • PH_hs_0004731
  • TC02001311.hg
  • X59812_at
  • g4503210_3p_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • CP27A_HUMAN
  • A8K303
  • Q6LDB4
  • Q86YQ6
sequenceLength 531
species [Species:48887] Homo sapiens
url http://purl.uniprot.org/uniprot/Q02318
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