| Identification |
| HMDB Protein ID
| CDBP00974 |
| Secondary Accession Numbers
| Not Available |
| Name
| Sterol 26-hydroxylase, mitochondrial |
| Description
| Not Available |
| Synonyms
|
- 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase
- Cytochrome P-450C27/25
- Cytochrome P450 27
- Sterol 27-hydroxylase
- Vitamin D(3) 25-hydroxylase
|
| Gene Name
| CYP27A1 |
| Protein Type
| Enzyme |
| Biological Properties |
| General Function
| Involved in monooxygenase activity |
| Specific 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.
|
| GO Classification
|
| Biological Process |
| bile acid biosynthetic process |
| cholesterol metabolic process |
| xenobiotic metabolic process |
| Cellular Component |
| mitochondrial matrix |
| mitochondrial inner membrane |
| Function |
| transition metal ion binding |
| electron carrier activity |
| iron ion binding |
| monooxygenase activity |
| heme binding |
| oxidoreductase activity |
| ion binding |
| cation binding |
| metal ion binding |
| binding |
| catalytic activity |
| Molecular Function |
| electron carrier activity |
| iron ion binding |
| steroid hydroxylase activity |
| cholestanetriol 26-monooxygenase activity |
| cholesterol 26-hydroxylase activity |
| vitamin D3 25-hydroxylase activity |
| heme binding |
| Process |
| metabolic process |
| oxidation reduction |
|
| Cellular Location
|
- Mitochondrion membrane
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | cholecalciferol biosynthesis | Not Available | Not Available | | Primary bile acid biosynthesis | Not Available |  | | PPAR signaling pathway | Not Available |  | | Bile Acid Biosynthesis |    |  | | Congenital Bile Acid Synthesis Defect Type II |    | Not Available |
|
| Gene Properties |
| Chromosome Location
| 2 |
| Locus
| 2q33-qter |
| SNPs
| CYP27A1 |
| Gene Sequence
|
>1596 bp
ATGGCTGCGCTGGGCTGCGCGAGGCTGAGGTGGGCGCTGCGAGGGGCCGGCCGTGGCCTC
TGCCCCCACGGGGCCAGAGCCAAGGCCGCGATCCCTGCCGCCCTCCCCTCGGACAAGGCC
ACCGGAGCTCCCGGAGCCGGGCCTGGTGTCCGGCGGCGGCAACGGAGCTTAGAGGAGATT
CCACGTCTAGGACAGCTGCGCTTCTTCTTTCAGCTGTTCGTTCAAGGCTATGCCCTGCAA
CTGCACCAGTTACAGGTGCTTTACAAGGCCAAGTACGGTCCAATGTGGATGTCCTACTTA
GGGCCTCAGATGCACGTGAACCTGGCCAGTGCCCCGCTCTTGGAGCAAGTGATGCGGCAA
GAGGGAAAGTACCCAGTACGGAACGACATGGAGCTATGGAAGGAGCACCGGGACCAGCAC
GACCTGACCTATGGGCCGTTCACCACGGAAGGACACCACTGGTACCAGCTGCGCCAGGCT
CTGAACCAGCGGTTGCTGAAGCCAGCGGAAGCAGCGCTCTATACGGATGCTTTCAATGAG
GTGATTGATGACTTTATGACTCGACTGGACCAGCTGCGGGCAGAGAGTGCTTCGGGGAAC
CAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGCTATTTGCTACATC
CTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTC
GTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGG
ACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCC
TTTGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCA
GGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTC
AGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGACA
TCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCC
TTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTT
GCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGTCTCTACCCTGTGGTC
CCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAG
AACACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAG
CCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATC
CAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGG
ATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGCTGATCCAGAAGTACAAGGTGGTC
CTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAG
AAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGA
|
| Protein Properties |
| Number of Residues
| 531 |
| Molecular Weight
| 60234.28 |
| Theoretical pI
| 8.897 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Sterol 26-hydroxylase, mitochondrial
MAALGCARLRWALRGAGRGLCPHGARAKAAIPAALPSDKATGAPGAGPGVRRRQRSLEEI
PRLGQLRFFFQLFVQGYALQLHQLQVLYKAKYGPMWMSYLGPQMHVNLASAPLLEQVMRQ
EGKYPVRNDMELWKEHRDQHDLTYGPFTTEGHHWYQLRQALNQRLLKPAEAALYTDAFNE
VIDDFMTRLDQLRAESASGNQVSDMAQLFYYFALEAICYILFEKRIGCLQRSIPEDTVTF
VRSIGLMFQNSLYATFLPKWTRPVLPFWKRYLDGWNAIFSFGKKLIDEKLEDMEAQLQAA
GPDGIQVSGYLHFLLASGQLSPREAMGSLPELLMAGVDTTSNTLTWALYHLSKDPEIQEA
LHEEVVGVVPAGQVPQHKDFAHMPLLKAVLKETLRLYPVVPTNSRIIEKEIEVDGFLFPK
NTQFVFCHYVVSRDPTAFSEPESFQPHRWLRNSQPATPRIQHPFGSVPFGYGVRACLGRR
IAELEMQLLLARLIQKYKVVLAPETGELKSVARIVLVPNKKVGLQFLQRQC
|
| External Links |
| GenBank ID Protein
| Not Available |
| UniProtKB/Swiss-Prot ID
| Q02318 |
| UniProtKB/Swiss-Prot Entry Name
| CP27A_HUMAN |
| PDB IDs
|
|
| GenBank Gene ID
| M62401 |
| GeneCard ID
| CYP27A1 |
| GenAtlas ID
| CYP27A1 |
| HGNC ID
| HGNC:2605 |
| References |
| General References
| Not Available |