| Identification |
| HMDB Protein ID
| CDBP00259 |
| Secondary Accession Numbers
| Not Available |
| Name
| Lanosterol 14-alpha demethylase |
| Description
| Not Available |
| Synonyms
|
- CYPLI
- Cytochrome P450 51A1
- Cytochrome P450-14DM
- Cytochrome P45014DM
- Cytochrome P450LI
- LDM
- Sterol 14-alpha demethylase
|
| Gene Name
| CYP51A1 |
| Protein Type
| Enzyme |
| Biological Properties |
| General Function
| Involved in monooxygenase activity |
| Specific Function
| Catalyzes C14-demethylation of lanosterol; it transforms lanosterol into 4,4'-dimethyl cholesta-8,14,24-triene-3-beta-ol.
|
| GO Classification
|
| Biological Process |
| cholesterol biosynthetic process |
| xenobiotic metabolic process |
| Cellular Component |
| endoplasmic reticulum membrane |
| integral to membrane |
| Function |
| ion binding |
| cation binding |
| metal ion binding |
| binding |
| catalytic activity |
| transition metal ion binding |
| electron carrier activity |
| iron ion binding |
| monooxygenase activity |
| heme binding |
| oxidoreductase activity |
| Molecular Function |
| electron carrier activity |
| iron ion binding |
| heme binding |
| sterol 14-demethylase activity |
|
| Cellular Location
|
- Endoplasmic reticulum membrane (Potential)
- Microsome membrane (Potential)
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | Steroid Biosynthesis |    |  | | zymosterol biosynthesis | Not Available | Not Available | | Smith-Lemli-Opitz Syndrome (SLOS) |    | Not Available | | CHILD Syndrome |    | Not Available | | Desmosterolosis |    | Not Available |
|
| Gene Properties |
| Chromosome Location
| 7 |
| Locus
| 7q21.2 |
| SNPs
| CYP51A1 |
| Gene Sequence
|
>1530 bp
ATGGCGGCGGCGGCTGGGATGCTGCTGCTGGGCTTGCTGCAGGCGGGTGGGTCGGTGCTG
GGCCAGGCGATGGAGAAGGTGACAGGCGGCAACCTCTTGTCCATGCTGCTGATCGCCTGC
GCCTTCACCCTCAGCCTGGTCTACCTGATCCGTCTGGCCGCCGGCCACCTGGTCCAGCTG
CCCGCAGGGGTGAAAAGTCCTCCATACATTTTCTCCCCAATTCCATTCCTTGGGCATGCC
ATAGCATTTGGGAAAAGTCCAATTGAATTTCTAGAAAATGCATATGAGAAGTATGGACCT
GTATTTAGTTTTACCATGGTAGGCAAGACATTTACTTACCTTCTGGGGAGTGATGCTGCT
GCACTGCTTTTTAATAGTAAAAATGAAGACCTGAATGCAGAAGATGTCTACAGTCGCCTG
ACAACACCTGTGTTTGGGAAGGGAGTTGCATACGATGTGCCTAATCCAGTTTTCTTGGAG
CAGAAGAAAATGTTAAAAAGTGGCCTTAACATAGCCCACTTTAAACAGCATGTTTCTATA
ATTGAAAAAGAAACAAAGGAATACTTTGAGAGTTGGGGAGAAAGTGGAGAAAAAAATGTG
TTTGAAGCTCTTTCTGAGCTCATAATTTTAACAGCTAGCCATTGTTTGCATGGAAAGGAA
ATCAGAAGTCAACTCAATGAAAAGGTAGCACAGCTGTATGCAGATTTGGATGGAGGTTTC
AGCCATGCAGCCTGGCTCTTACCAGGTTGGCTGCCTTTGCCTAGTTTCAGACGCAGGGAC
AGAGCTCATCGGGAAATCAAGGATATTTTCTATAAGGCAATCCAGAAACGCAGACAGTCT
CAAGAAAAAATTGATGACATTCTCCAAACTTTACTAGATGCTACATACAAGGATGGGCGT
CCTTTGACTGATGATGAAGTAGCAGGGATGCTTATTGGATTACTCTTGGCAGGGCAGCAT
ACATCCTCAACTACTAGTGCTTGGATGGGCTTCTTTTTGGCCAGAGACAAAACACTTCAA
AAAAAATGTTATTTAGAACAGAAAACAGTCTGTGGAGAGAATCTGCCTCCTTTAACTTAT
GACCAGCTCAAGGATCTAAATTTACTTGATCGCTGTATAAAAGAAACATTAAGACTTAGA
CCTCCTATAATGATCATGATGAGAATGGCCAGAACTCCTCAGACTGTGGCAGGGTATACC
ATTCCTCCAGGACATCAGGTGTGTGTTTCTCCCACTGTCAATCAAAGACTTAAAGACTCA
TGGGTAGAACGCCTGGACTTTAATCCTGATCGCTACTTACAGGATAACCCAGCATCAGGG
GAAAAGTTTGCCTATGTGCCATTTGGAGCTGGGCGTCATCGTTGTATTGGGGAAAATTTT
GCCTATGTTCAAATTAAGACAATTTGGTCCACTATGCTTCGTTTATATGAATTTGATCTC
ATTGATGGATACTTTCCCACTGTGAATTATACAACTATGATTCACACCCCTGAAAACCCA
GTTATCCGTTACAAACGAAGATCAAAATGA
|
| Protein Properties |
| Number of Residues
| 503 |
| Molecular Weight
| 57277.81 |
| Theoretical pI
| 8.527 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Lanosterol 14-alpha demethylase
MLLLGLLQAGGSVLGQAMEKVTGGNLLSMLLIACAFTLSLVYLIRLAAGHLVQLPAGVKS
PPYIFSPIPFLGHAIAFGKSPIEFLENAYEKYGPVFSFTMVGKTFTYLLGSDAAALLFNS
KNEDLNAEDVYSRLTTPVFGKGVAYDVPNPVFLEQKKMLKSGLNIAHFKQHVSIIEKETK
EYFESWGESGEKNVFEALSELIILTASHCLHGKEIRSQLNEKVAQLYADLDGGFSHAAWL
LPGWLPLPSFRRRDRAHREIKDIFYKAIQKRRQSQEKIDDILQTLLDATYKDGRPLTDDE
VAGMLIGLLLAGQHTSSTTSAWMGFFLARDKTLQKKCYLEQKTVCGENLPPLTYDQLKDL
NLLDRCIKETLRLRPPIMIMMRMARTPQTVAGYTIPPGHQVCVSPTVNQRLKDSWVERLD
FNPDRYLQDNPASGEKFAYVPFGAGRHRCIGENFAYVQIKTIWSTMLRLYEFDLIDGYFP
TVNYTTMIHTPENPVIRYKRRSK
|
| External Links |
| GenBank ID Protein
| 4503243 |
| UniProtKB/Swiss-Prot ID
| Q16850 |
| UniProtKB/Swiss-Prot Entry Name
| CP51A_HUMAN |
| PDB IDs
|
|
| GenBank Gene ID
| NM_000786 |
| GeneCard ID
| CYP51A1 |
| GenAtlas ID
| CYP51A1 |
| HGNC ID
| HGNC:2649 |
| References |
| General References
| Not Available |