| Identification |
| HMDB Protein ID
| CDBP02430 |
| Secondary Accession Numbers
| Not Available |
| Name
| Cholesterol 24-hydroxylase |
| Description
| Not Available |
| Synonyms
|
- CH24H
- Cytochrome P450 46A1
|
| Gene Name
| CYP46A1 |
| Protein Type
| Enzyme |
| Biological Properties |
| General Function
| Involved in monooxygenase activity |
| Specific Function
| Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a lesser extent, 25-hydroxycholesterol.
|
| GO Classification
|
| Biological Process |
| bile acid biosynthetic process |
| nervous system development |
| xenobiotic metabolic process |
| cholesterol catabolic process |
| Cellular Component |
| endoplasmic reticulum membrane |
| integral to membrane |
| Function |
| electron carrier activity |
| iron ion binding |
| monooxygenase activity |
| heme binding |
| oxidoreductase activity |
| ion binding |
| cation binding |
| metal ion binding |
| binding |
| catalytic activity |
| transition metal ion binding |
| Molecular Function |
| electron carrier activity |
| iron ion binding |
| steroid hydroxylase activity |
| heme binding |
| cholesterol 24-hydroxylase activity |
| Process |
| metabolic process |
| oxidation reduction |
|
| Cellular Location
|
- Endoplasmic reticulum membrane
- Single-pass membrane protein
- Single-pass membrane protein
- Microsome membrane
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | Bile Acid Biosynthesis |    |  | | Primary bile acid biosynthesis | Not Available |  | | Congenital Bile Acid Synthesis Defect Type II |    | Not Available | | Congenital Bile Acid Synthesis Defect Type III |    | Not Available | | Familial Hypercholanemia (FHCA) |    | Not Available |
|
| Gene Properties |
| Chromosome Location
| 14 |
| Locus
| 14q32.1 |
| SNPs
| CYP46A1 |
| Gene Sequence
|
>1503 bp
ATGAGCCCCGGGCTGCTGCTGCTCGGCAGCGCCGTCCTGCTCGCCTTCGGCCTCTGCTGC
ACCTTCGTGCACCGCGCTCGCAGCCGCTACGAGCACATCCCCGGGCCGCCGCGGCCCAGT
TTCCTTCTAGGACACCTCCCCTGCTTTTGGAAAAAGGATGAGGTTGGTGGCCGTGTGCTC
CAAGATGTGTTTTTGGATTGGGCTAAGAAGTATGGACCTGTTGTGCGGGTCAACGTCTTC
CACAAAACCTCAGTCATCGTCACGAGTCCTGAGTCGGTTAAGAAGTTCCTGATGTCAACC
AAGTACAACAAGGACTCCAAGATGTACCGTGCGCTCCAGACTGTGTTTGGTGAGAGACTC
TTCGGCCAAGGCTTGGTGTCCGAATGCAACTATGAGCGCTGGCACAAGCAGCGGAGAGTC
ATAGACCTGGCCTTCAGCCGGAGCTCCTTGGTTAGCTTAATGGAAACATTCAACGAGAAG
GCTGAGCAGCTGGTGGAGATTCTAGAAGCCAAGGCAGATGGGCAGACCCCAGTGTCCATG
CAGGACATGCTGACCTACACCGCCATGGACATCCTGGCCAAGGCAGCTTTTGGGATGGAG
ACCAGTATGCTGCTGGGTGCCCAGAAGCCTCTGTCCCAGGCAGTGAAACTTATGTTGGAG
GGAATCACTGCGTCCCGCAACACTCTGGCAAAGTTCCTGCCAGGGAAGAGGAAGCAGCTC
CGGGAGGTCCGGGAGAGCATTCGCTTCCTGCGCCAGGTGGGCAGGGACTGGGTCCAGCGC
CGCCGGGAAGCCCTGAAGAGGGGCGAGGAGGTTCCTGCCGACATCCTCACACAGATTCTG
AAAGCTGAAGAGGGAGCCCAGGACGACGAGGGTCTGCTGGACAACTTCGTCACCTTCTTC
ATTGCTGGTCACGAGACCTCTGCCAACCACTTGGCGTTCACAGTGATGGAGCTGTCTCGC
CAGCCAGAGATCGTGGCAAGGCTGCAGGCCGAGGTGGATGAGGTCATTGGTTCTAAGAGG
TACCTGGATTTCGAGGACCTGGGGAGACTGCAGTACCTGTCCCAGGTCCTCAAAGAGTCG
CTGAGGCTGTACCCACCAGCATGGGGCACCTTTCGCCTGCTGGAAGAGGAGACCTTGATT
GATGGGGTCAGAGTCCCCGGCAACACCCCGCTCTTGTTCAGCACCTATGTCATGGGGCGG
ATGGACACATACTTTGAGGACCCGCTGACTTTCAACCCCGATCGCTTCGGCCCTGGAGCA
CCCAAGCCACGGTTCACCTACTTCCCCTTCTCCCTGGGCCACCGCTCCTGCATCGGGCAG
CAGTTTGCTCAGATGGAGGTGAAGGTGGTCATGGCAAAGCTGCTGCAGAGGCTGGAGTTC
CGGCTGGTGCCCGGGCAGCGCTTCGGGCTGCAGGAGCAGGCCACACTCAAGCCACTGGAC
CCCGTGCTGTGCACCCTGCGGCCCCGCGGCTGGCAGCCCGCACCCCCACCACCCCCCTGC
TGA
|
| Protein Properties |
| Number of Residues
| 500 |
| Molecular Weight
| 56820.535 |
| Theoretical pI
| 9.02 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Cholesterol 24-hydroxylase
MSPGLLLLGSAVLLAFGLCCTFVHRARSRYEHIPGPPRPSFLLGHLPCFWKKDEVGGRVL
QDVFLDWAKKYGPVVRVNVFHKTSVIVTSPESVKKFLMSTKYNKDSKMYRALQTVFGERL
FGQGLVSECNYERWHKQRRVIDLAFSRSSLVSLMETFNEKAEQLVEILEAKADGQTPVSM
QDMLTYTAMDILAKAAFGMETSMLLGAQKPLSQAVKLMLEGITASRNTLAKFLPGKRKQL
REVRESIRFLRQVGRDWVQRRREALKRGEEVPADILTQILKAEEGAQDDEGLLDNFVTFF
IAGHETSANHLAFTVMELSRQPEIVARLQAEVDEVIGSKRYLDFEDLGRLQYLSQVLKES
LRLYPPAWGTFRLLEEETLIDGVRVPGNTPLLFSTYVMGRMDTYFEDPLTFNPDRFGPGA
PKPRFTYFPFSLGHRSCIGQQFAQMEVKVVMAKLLQRLEFRLVPGQRFGLQEQATLKPLD
PVLCTLRPRGWQPAPPPPPC
|
| External Links |
| GenBank ID Protein
| 5257114 |
| UniProtKB/Swiss-Prot ID
| Q9Y6A2 |
| UniProtKB/Swiss-Prot Entry Name
| CP46A_HUMAN |
| PDB IDs
|
|
| GenBank Gene ID
| AF094480 |
| GeneCard ID
| CYP46A1 |
| GenAtlas ID
| CYP46A1 |
| HGNC ID
| HGNC:2641 |
| References |
| General References
| Not Available |