Gene/Proteome Database (LMPD)
LMPD ID
LMP002471
Gene ID
Species
Homo sapiens (Human)
Gene Name
cytochrome P450, family 27, subfamily A, polypeptide 1
Gene Symbol
Synonyms
CP27; CTX; CYP27
Alternate Names
sterol 26-hydroxylase, mitochondrial; cytochrome P450 27; sterol 27-hydroxylase; cytochrome P-450C27/25; vitamin D(3) 25-hydroxylase; cholestanetriol 26-monooxygenase; 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase; 5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 26-hydroxylase; 5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 27-hydroxylase; cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1
Chromosome
2
Map Location
2q35
EC Number
1.14.13.15
Summary
This 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]
Orthologs
Proteins
| sterol 26-hydroxylase, mitochondrial precursor | |
|---|---|
| Refseq ID | NP_000775 |
| Protein GI | 4503211 |
| UniProt ID | Q02318 |
| mRNA ID | NM_000784 |
| Length | 531 |
| RefSeq Status | REVIEWED |
| MAALGCARLRWALRGAGRGLCPHGARAKAAIPAALPSDKATGAPGAGPGVRRRQRSLEEIPRLGQLRFFFQLFVQGYALQLHQLQVLYKAKYGPMWMSYLGPQMHVNLASAPLLEQVMRQEGKYPVRNDMELWKEHRDQHDLTYGPFTTEGHHWYQLRQALNQRLLKPAEAALYTDAFNEVIDDFMTRLDQLRAESASGNQVSDMAQLFYYFALEAICYILFEKRIGCLQRSIPEDTVTFVRSIGLMFQNSLYATFLPKWTRPVLPFWKRYLDGWNAIFSFGKKLIDEKLEDMEAQLQAAGPDGIQVSGYLHFLLASGQLSPREAMGSLPELLMAGVDTTSNTLTWALYHLSKDPEIQEALHEEVVGVVPAGQVPQHKDFAHMPLLKAVLKETLRLYPVVPTNSRIIEKEIEVDGFLFPKNTQFVFCHYVVSRDPTAFSEPESFQPHRWLRNSQPATPRIQHPFGSVPFGYGVRACLGRRIAELEMQLLLARLIQKYKVVLAPETGELKSVARIVLVPNKKVGLQFLQRQC | |
| 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: ALPSDKATGAPGAGPGVRRRQRSLEEIPRLGQLRFFFQLFVQGYALQLHQLQVLYKAKYGPMWMSYLGPQMHVNLASAPLLEQVMRQEGKYPVRNDMELWKEHRDQHDLTYGPFTTEGHHWYQLRQALNQRLLKPAEAALYTDAFNEVIDDFMTRLDQLRAESASGNQVSDMAQLFYYFALEAICYILFEKRIGCLQRSIPEDTVTFVRSIGLMFQNSLYATFLPKWTRPVLPFWKRYLDGWNAIFSFGKKLIDEKLEDMEAQLQAAGPDGIQVSGYLHFLLASGQLSPREAMGSLPELLMAGVDTTSNTLTWALYHLSKDPEIQEALHEEVVGVVPAGQVPQHKDFAHMPLLKAVLKETLRLYPVVPTNSRIIEKEIEVDGFLFPKNTQFVFCHYVVSRDPTAFSEPESFQPHRWLRNSQPATPRIQHPFGSVPFGYGVRACLGRRIAELEMQLLLARLIQKYKVVLAPETGELKSVARIVLVPNKKVGLQFLQRQC | |
Gene Information
Entrez Gene ID
Gene Name
cytochrome P450, family 27, subfamily A, polypeptide 1
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005743 | IEA:Ensembl | C | mitochondrial inner membrane |
| GO:0005759 | TAS:Reactome | C | mitochondrial matrix |
| GO:0047749 | IEA:UniProtKB-EC | F | cholestanetriol 26-monooxygenase activity |
| GO:0031073 | IEA:Ensembl | F | cholesterol 26-hydroxylase activity |
| GO:0020037 | IEA:InterPro | F | heme binding |
| GO:0005506 | IEA:InterPro | F | iron ion binding |
| GO:0008395 | TAS:ProtInc | F | steroid hydroxylase activity |
| GO:0030343 | IEA:Ensembl | F | vitamin D3 25-hydroxylase activity |
| GO:0006699 | TAS:Reactome | P | bile acid biosynthetic process |
| GO:0008206 | TAS:Reactome | P | bile acid metabolic process |
| GO:0008203 | IEA:Ensembl | P | cholesterol metabolic process |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
| GO:0016125 | TAS:Reactome | P | sterol metabolic process |
| GO:0006805 | TAS:Reactome | P | xenobiotic metabolic process |
KEGG Pathway Links
Domain Information
UniProt Annotations
Entry Information
Gene Name
cytochrome P450, family 27, subfamily A, polypeptide 1
Protein Entry
CP27A_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Catalytic Activity | 5-beta-cholestane-3-alpha,7-alpha,12-alpha- triol + 3 NADPH + 3 O(2) = (25R)-3-alpha,7-alpha,12-alpha- trihydroxy-5-beta-cholestan-26-oate + 3 NADP(+) + 4 H(2)O. |
| Cofactor | Name=heme; Xref=ChEBI |
| Disease | Cerebrotendinous xanthomatosis (CTX) [MIM |
| Function | Catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta- cholestane-3-alpha,7-alpha,12-alpha-triol. Has also a vitamin D3- 25-hydroxylase activity. |
| Pathway | Hormone biosynthesis; cholecalciferol biosynthesis. |
| Similarity | Belongs to the cytochrome P450 family. |
| Subcellular Location | Mitochondrion membrane. |
Identical and Related Proteins
Unique RefSeq proteins for LMP002471 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 4503211 | RefSeq | NP_000775 | 531 | sterol 26-hydroxylase, mitochondrial precursor |
Identical Sequences to LMP002471 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:4503211 | DBBJ | BAF83107.1 | 531 | unnamed protein product [Homo sapiens] |
| GI:4503211 | GenBank | AAH51851.1 | 531 | Cytochrome P450, family 27, subfamily A, polypeptide 1 [Homo sapiens] |
| GI:4503211 | GenBank | AAH40430.1 | 531 | Cytochrome P450, family 27, subfamily A, polypeptide 1 [Homo sapiens] |
| GI:4503211 | GenBank | EAW70654.1 | 531 | cytochrome P450, family 27, subfamily A, polypeptide 1, isoform CRA_b [Homo sapiens] |
| GI:4503211 | GenBank | AIC48613.1 | 531 | CYP27A1, partial [synthetic construct] |
| GI:4503211 | SwissProt | Q02318.1 | 531 | RecName: Full=Sterol 26-hydroxylase, mitochondrial; AltName: Full=5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase; AltName: Full=Cytochrome P-450C27/25; AltName: Full=Cytochrome P450 27; AltName: Full=Sterol 27-hydroxylase; AltName: Full=Vitamin D(3) 25-hydroxylase; Flags: Precursor [Homo sapiens] |
Related Sequences to LMP002471 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:4503211 | EMBL | CAA42481.1 | 530 | Vitamin D3 25-hydroxylase [Homo sapiens] |
| GI:4503211 | GenBank | AAO21126.1 | 531 | steroid hydroxylase [Homo sapiens] |
| GI:4503211 | GenBank | ACM85763.1 | 557 | Sequence 11261 from patent US 6812339 |
| GI:4503211 | RefSeq | XP_001159436.1 | 531 | PREDICTED: sterol 26-hydroxylase, mitochondrial [Pan troglodytes] |
| GI:4503211 | RefSeq | XP_003272423.1 | 534 | PREDICTED: sterol 26-hydroxylase, mitochondrial-like [Nomascus leucogenys] |
| GI:4503211 | RefSeq | XP_010358556.1 | 531 | PREDICTED: sterol 26-hydroxylase, mitochondrial [Rhinopithecus roxellana] |