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MGP000775

Record overview

MGPD IDMGP000775
Gene ID1593
SpeciesHomo sapiens (Human)
Gene Namecytochrome P450, family 27, subfamily A, polypeptide 1
Gene Symbol CYP27A1
SynonymsCTX; CP27; CYP27;
Alternate namessterol 26-hydroxylase, mitochondrial; 5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 26-hydroxylase; 5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 27-hydroxylase; 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase; cholestanetriol 26-monooxygenase; cytochrome P-450C27/25; cytochrome P450 27; cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1; sterol 27-hydroxylase; vitamin D(3) 25-hydroxylase;
Chromosome2
Map Location2q35
EC Number1.14.13.15
SummaryThis gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for CYP27A1

Proteins

sterol 26-hydroxylase, mitochondrial precursor
Refseq ID:NP_000775
Protein GI:4503211
UniProt ID:Q02318
mRNA ID:NM_000784
Length:531
RefSeq Status:
MAALGCARLRWALRGAGRGLCPHGARAKAAIPAALPSDKATGAPGAGPGVRRRQRSLEEIPRLGQLRFFFQLFVQGYALQLHQLQVLYKAKYGPMWMSYL
GPQMHVNLASAPLLEQVMRQEGKYPVRNDMELWKEHRDQHDLTYGPFTTEGHHWYQLRQALNQRLLKPAEAALYTDAFNEVIDDFMTRLDQLRAESASGN
QVSDMAQLFYYFALEAICYILFEKRIGCLQRSIPEDTVTFVRSIGLMFQNSLYATFLPKWTRPVLPFWKRYLDGWNAIFSFGKKLIDEKLEDMEAQLQAA
GPDGIQVSGYLHFLLASGQLSPREAMGSLPELLMAGVDTTSNTLTWALYHLSKDPEIQEALHEEVVGVVPAGQVPQHKDFAHMPLLKAVLKETLRLYPVV
PTNSRIIEKEIEVDGFLFPKNTQFVFCHYVVSRDPTAFSEPESFQPHRWLRNSQPATPRIQHPFGSVPFGYGVRACLGRRIAELEMQLLLARLIQKYKVV
LAPETGELKSVARIVLVPNKKVGLQFLQRQC
 
transit_peptide: 1..33
calculated_mol_wt: 3344
peptide sequence: 
MAALGCARLRWALRGAGRGLCPHGARAKAAIPA

mat_peptide: 34..531
product: sterol 26-hydroxylase, mitochondrial
calculated_mol_wt: 56909
peptide sequence: 
ALPSDKATGAPGAGPGVRRRQRSLEEIPRLGQLRFFFQLFVQGYALQLHQLQVLYKAKYGPMWMSYLGPQMHVNLASAPLLEQVMRQEGKYPVRNDMELW
KEHRDQHDLTYGPFTTEGHHWYQLRQALNQRLLKPAEAALYTDAFNEVIDDFMTRLDQLRAESASGNQVSDMAQLFYYFALEAICYILFEKRIGCLQRSI
PEDTVTFVRSIGLMFQNSLYATFLPKWTRPVLPFWKRYLDGWNAIFSFGKKLIDEKLEDMEAQLQAAGPDGIQVSGYLHFLLASGQLSPREAMGSLPELL
MAGVDTTSNTLTWALYHLSKDPEIQEALHEEVVGVVPAGQVPQHKDFAHMPLLKAVLKETLRLYPVVPTNSRIIEKEIEVDGFLFPKNTQFVFCHYVVSR
DPTAFSEPESFQPHRWLRNSQPATPRIQHPFGSVPFGYGVRACLGRRIAELEMQLLLARLIQKYKVVLAPETGELKSVARIVLVPNKKVGLQFLQRQC
 
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