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 |
catalytic activity |
transition metal ion binding |
electron carrier activity |
iron ion binding |
monooxygenase activity |
heme binding |
oxidoreductase activity |
ion binding |
cation binding |
metal ion binding |
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 |