CYP27A1
entrez
1593
canonical
uniprot
Q02318
canonical
ensembl
ENSG00000135929
resolver
ensp
ENSP00000258415
resolver
enst
ENST00000258415
resolver
genesymbol
CYP27A1
resolver
genesymbol_syn
CYP27
resolver
hgnc
HGNC:2605
resolver
uniprot
A8K303
resolver
uniprot
Q6LDB4
resolver
uniprot
Q86YQ6
resolver
uniprot_entry
CP27A_HUMAN
resolver
uniprot_sec
A8K303
resolver
uniprot_sec
Q6LDB4
resolver
uniprot_sec
Q86YQ6
resolver
amino_acid_sequence
MAALGCARLRWALRGAGRGLCPHGARAKAAIPAALPSDKATGAPGAGPGVRRRQRSLEEIPRLGQLRFFFQLFVQGYALQLHQLQVLYKAKYGPMWMSYLGPQMHVNLASAPLLEQVMRQEGKYPVRNDMELWKEHRDQHDLTYGPFTTEGHHWYQLRQALNQRLLKPAEAALYTDAFNEVIDDFMTRLDQLRAESASGNQVSDMAQLFYYFALEAICYILFEKRIGCLQRSIPEDTVTFVRSIGLMFQNSLYATFLPKWTRPVLPFWKRYLDGWNAIFSFGKKLIDEKLEDMEAQLQAAGPDGIQVSGYLHFLLASGQLSPREAMGSLPELLMAGVDTTSNTLTWALYHLSKDPEIQEALHEEVVGVVPAGQVPQHKDFAHMPLLKAVLKETLRLYPVVPTNSRIIEKEIEVDGFLFPKNTQFVFCHYVVSRDPTAFSEPESFQPHRWLRNSQPATPRIQHPFGSVPFGYGVRACLGRRIAELEMQLLLARLIQKYKVVLAPETGELKSVARIVLVPNKKVGLQFLQRQC
uniprot
proteins
disease_involvement
DISEASE: Cerebrotendinous xanthomatosis (CTX) [MIM:213700]: Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts. {ECO:0000269|PubMed:12000359, ECO:0000269|PubMed:2019602, ECO:0000269|PubMed:7915755, ECO:0000269|PubMed:9186905, ECO:0000269|PubMed:9790667}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.15.15
uniprot
proteins
function
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:12077124, PubMed:21411718, PubMed:28190002, PubMed:9660774). Regulates cholesterol homeostasis by catalyzing the conversion of excess cholesterol to bile acids via both the 'neutral' (classic) and the 'acid' (alternative) pathways (PubMed:11412116, PubMed:1708392, PubMed:2019602, PubMed:7915755, PubMed:9186905, PubMed:9660774, 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:12077124, PubMed:9660774). Catalyzes the conversion of 7-ketocholesterol (7-oxocholesterol) into 7-keto,27-hydroxycholesterol, a precursor of 7-keto,27-hydroxycholesterol, an active oxysterol that activates smoothened (SMO) and the smoothened signaling pathway (By similarity). 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). {ECO:0000250|UniProtKB:Q9DBG1, ECO:0000269|PubMed:11412116, ECO:0000269|PubMed:12077124, ECO:0000269|PubMed:15465040, ECO:0000269|PubMed:1708392, ECO:0000269|PubMed:2019602, ECO:0000269|PubMed:21411718, ECO:0000269|PubMed:28190002, ECO:0000269|PubMed:7915755, ECO:0000269|PubMed:9186905, ECO:0000269|PubMed:9660774, ECO:0000269|PubMed:9790667}.
uniprot
proteins
mass_dalton
60235
uniprot
proteins
mutagenesis
MUTAGEN 240; /note="F->A: Impairs sterol 26-hydroxylase activity; when associated with A-244 and A-248."; /evidence="ECO:0000269|PubMed:11412116"; MUTAGEN 240; /note="F->K: Impairs sterol 26-hydroxylase activity."; /evidence="ECO:0000269|PubMed:11412116"; MUTAGEN 244; /note="I->A: Impairs sterol 26-hydroxylase activity; when associated with A-240 and A-248."; /evidence="ECO:0000269|PubMed:11412116"; MUTAGEN 244; /note="I->K: Impairs sterol 26-hydroxylase activity."; /evidence="ECO:0000269|PubMed:11412116"; MUTAGEN 248; /note="F->A: Impairs sterol 26-hydroxylase activity; when associated with A-240 and A-244."; /evidence="ECO:0000269|PubMed:11412116"; MUTAGEN 248; /note="F->K: Impairs sterol 26-hydroxylase activity; confers demethylase activity."; /evidence="ECO:0000269|PubMed:11412116"; MUTAGEN 268; /note="W->A: Reduces sterol 26-hydroxylase activity."; /evidence="ECO:0000269|PubMed:11412116"; MUTAGEN 271; /note="Y->A: Reduces sterol 26-hydroxylase activity."; /evidence="ECO:0000269|PubMed:11412116
uniprot
proteins
pathway_participation
PATHWAY: Hormone biosynthesis; cholecalciferol biosynthesis. {ECO:0000305|PubMed:15465040}.; PATHWAY: Steroid metabolism; cholesterol degradation. {ECO:0000305|PubMed:12077124, ECO:0000305|PubMed:9660774}.; PATHWAY: Lipid metabolism; bile acid biosynthesis. {ECO:0000305|PubMed:11412116}.
uniprot
proteins
protein_family
Cytochrome P450 family
uniprot
proteins
pubmed
11412116
uniprot
proteins
pubmed
12000359
uniprot
proteins
pubmed
12077124
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15465040
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1708392
uniprot
proteins
pubmed
2019602
uniprot
proteins
pubmed
21411718
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28190002
uniprot
proteins
pubmed
7690968
uniprot
proteins
pubmed
7915755
uniprot
proteins
pubmed
8514861
uniprot
proteins
pubmed
9186905
uniprot
proteins
pubmed
9660774
uniprot
proteins
pubmed
9790667
uniprot
proteins
sequence_length
531
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P17178}; Peripheral membrane protein {ECO:0000250|UniProtKB:P17178}. Note=Post-translationally targeted to mitochondria. All three of the receptor proteins in the TOM complex, TOMM70, TOMM20 and TOMM22 are required for the translocation across the mitochondrial outer membrane. After translocation into the matrix, associates with the inner membrane as a membrane extrinsic protein. {ECO:0000250|UniProtKB:P17178}.
uniprot
proteins