Gene/Proteome Database (LMPD)
LMPD ID
LMP002435
Gene ID
Species
Homo sapiens (Human)
Gene Name
cytochrome P450, family 51, subfamily A, polypeptide 1
Gene Symbol
Synonyms
CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1
Alternate Names
lanosterol 14-alpha demethylase; CYPLI; cytochrome P450LI; cytochrome P45014DM; cytochrome P450 51A1; cytochrome P450-14DM; sterol 14-alpha demethylase; lanosterol 14-alpha-demethylase; cytochrome P450, 51 (lanosterol 14-alpha-demethylase)
Chromosome
7
Map Location
7q21.2
EC Number
1.14.13.70
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 endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Orthologs
Proteins
| lanosterol 14-alpha demethylase isoform 1 precursor | |
|---|---|
| Refseq ID | NP_000777 |
| Protein GI | 4503243 |
| UniProt ID | Q16850 |
| mRNA ID | NM_000786 |
| Length | 509 |
| RefSeq Status | REVIEWED |
| MAAAAGMLLLGLLQAGGSVLGQAMEKVTGGNLLSMLLIACAFTLSLVYLIRLAAGHLVQLPAGVKSPPYIFSPIPFLGHAIAFGKSPIEFLENAYEKYGPVFSFTMVGKTFTYLLGSDAAALLFNSKNEDLNAEDVYSRLTTPVFGKGVAYDVPNPVFLEQKKMLKSGLNIAHFKQHVSIIEKETKEYFESWGESGEKNVFEALSELIILTASHCLHGKEIRSQLNEKVAQLYADLDGGFSHAAWLLPGWLPLPSFRRRDRAHREIKDIFYKAIQKRRQSQEKIDDILQTLLDATYKDGRPLTDDEVAGMLIGLLLAGQHTSSTTSAWMGFFLARDKTLQKKCYLEQKTVCGENLPPLTYDQLKDLNLLDRCIKETLRLRPPIMIMMRMARTPQTVAGYTIPPGHQVCVSPTVNQRLKDSWVERLDFNPDRYLQDNPASGEKFAYVPFGAGRHRCIGENFAYVQIKTIWSTMLRLYEFDLIDGYFPTVNYTTMIHTPENPVIRYKRRSK | |
| lanosterol 14-alpha demethylase isoform 2 | |
|---|---|
| Refseq ID | NP_001139624 |
| Protein GI | 225903399 |
| UniProt ID | Q16850 |
| mRNA ID | NM_001146152 |
| Length | 404 |
| RefSeq Status | REVIEWED |
| MVGKTFTYLLGSDAAALLFNSKNEDLNAEDVYSRLTTPVFGKGVAYDVPNPVFLEQKKMLKSGLNIAHFKQHVSIIEKETKEYFESWGESGEKNVFEALSELIILTASHCLHGKEIRSQLNEKVAQLYADLDGGFSHAAWLLPGWLPLPSFRRRDRAHREIKDIFYKAIQKRRQSQEKIDDILQTLLDATYKDGRPLTDDEVAGMLIGLLLAGQHTSSTTSAWMGFFLARDKTLQKKCYLEQKTVCGENLPPLTYDQLKDLNLLDRCIKETLRLRPPIMIMMRMARTPQTVAGYTIPPGHQVCVSPTVNQRLKDSWVERLDFNPDRYLQDNPASGEKFAYVPFGAGRHRCIGENFAYVQIKTIWSTMLRLYEFDLIDGYFPTVNYTTMIHTPENPVIRYKRRSK | |
| sig_peptide: 1..21 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 1914 peptide sequence: MAAAAGMLLLGLLQAGGSVLG | |
Gene Information
Entrez Gene ID
Gene Name
cytochrome P450, family 51, subfamily A, polypeptide 1
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005783 | IDA:HPA | C | endoplasmic reticulum |
| GO:0005789 | TAS:Reactome | C | endoplasmic reticulum membrane |
| GO:0016021 | IEA:UniProtKB-KW | C | integral component of membrane |
| GO:0016020 | IDA:UniProtKB | C | membrane |
| GO:0020037 | IDA:UniProtKB | F | heme binding |
| GO:0005506 | IEA:InterPro | F | iron ion binding |
| GO:0008398 | IDA:UniProtKB | F | sterol 14-demethylase activity |
| GO:0006695 | TAS:Reactome | P | cholesterol biosynthetic process |
| GO:0033488 | IEA:Ensembl | P | cholesterol biosynthetic process via 24,25-dihydrolanosterol |
| GO:0070988 | IDA:GOC | P | demethylation |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
| GO:0006694 | IDA:UniProtKB | P | steroid biosynthetic process |
| GO:0016125 | TAS:Reactome | P | sterol metabolic process |
| GO:0006805 | TAS:Reactome | P | xenobiotic metabolic process |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_147904 | Activation of gene expression by SREBF (SREBP) |
Domain Information
UniProt Annotations
Entry Information
Gene Name
cytochrome P450, family 51, subfamily A, polypeptide 1
Protein Entry
CP51A_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q16850-1; Sequence=Displayed; Name=2; IsoId=Q16850-2; Sequence=VSP_037413; Note=No experimental confirmation available.; |
| Catalytic Activity | A 14-alpha-methylsteroid + 3 O(2) + 3 NADPH = a Delta(14)-steroid + formate + 3 NADP(+) + 4 H(2)O. |
| Cofactor | Name=heme; Xref=ChEBI |
| Function | Catalyzes C14-demethylation of lanosterol; it transforms lanosterol into 4,4'-dimethyl cholesta-8,14,24-triene-3-beta-ol. |
| Pathway | Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 1/6. |
| Sequence Caution | Sequence=AAB39951.1; Type=Erroneous initiation; Evidence= ; Sequence=AAB46356.1; Type=Erroneous initiation; Evidence= ; Sequence=AAH32322.1; Type=Erroneous initiation; Evidence= ; Sequence=BAA09512.1; Type=Erroneous initiation; Evidence= ; Sequence=BAG36881.1; Type=Erroneous initiation; Evidence= ; Sequence=EAL24154.1; Type=Erroneous initiation; Evidence= ; Sequence=EAW76858.1; Type=Erroneous initiation; Evidence= ; |
| Similarity | Belongs to the cytochrome P450 family. |
| Subcellular Location | Endoplasmic reticulum membrane {ECO |
| Tissue Specificity | Ubiquitously expressed with highest levels in testis, ovary, adrenal, prostate, liver, kidney and lung. |
Identical and Related Proteins
Unique RefSeq proteins for LMP002435 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 4503243 | RefSeq | NP_000777 | 509 | lanosterol 14-alpha demethylase isoform 1 precursor |
| 225903399 | RefSeq | NP_001139624 | 404 | lanosterol 14-alpha demethylase isoform 2 |
Identical Sequences to LMP002435 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:225903399 | DBBJ | BAG58717.1 | 404 | unnamed protein product [Homo sapiens] |
| GI:4503243 | GenBank | AAB46356.1 | 509 | unknown [Homo sapiens] |
| GI:4503243 | GenBank | EAL24154.1 | 509 | cytochrome P450, family 51, subfamily A, polypeptide 1 [Homo sapiens] |
| GI:4503243 | GenBank | EAW76858.1 | 509 | cytochrome P450, family 51, subfamily A, polypeptide 1, isoform CRA_a [Homo sapiens] |
| GI:225903399 | GenBank | EAW76859.1 | 404 | cytochrome P450, family 51, subfamily A, polypeptide 1, isoform CRA_b [Homo sapiens] |
| GI:4503243 | GenBank | ACM86233.1 | 509 | Sequence 11731 from patent US 6812339 |
| GI:4503243 | GenBank | ACW21182.1 | 509 | Sequence 73 from patent US 7560233 |
| GI:4503243 | GenBank | AHD78991.1 | 509 | Sequence 28635 from patent US 8586006 |
Related Sequences to LMP002435 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:225903399 | DBBJ | BAA09512.1 | 509 | lanosterol 14-demethylase [Homo sapiens] |
| GI:4503243 | DBBJ | BAJ20474.1 | 509 | cytochrome P450, family 51, subfamily A, polypeptide 1, partial [synthetic construct] |
| GI:225903399 | GenBank | AAB39951.1 | 509 | lanosterol 14-demethylase cytochrome P450 [Homo sapiens] |
| GI:225903399 | GenBank | AAB46356.1 | 509 | unknown [Homo sapiens] |
| GI:4503243 | GenBank | AAH32322.1 | 509 | Cytochrome P450, family 51, subfamily A, polypeptide 1 [Homo sapiens] |
| GI:4503243 | GenBank | AAX42486.1 | 509 | cytochrome P450 family 51 subfamily A polypeptide 1 [synthetic construct] |
| GI:225903399 | GenBank | EAW76858.1 | 509 | cytochrome P450, family 51, subfamily A, polypeptide 1, isoform CRA_a [Homo sapiens] |
| GI:4503243 | GenBank | ABM82237.1 | 509 | cytochrome P450, family 51, subfamily A, polypeptide 1 [synthetic construct] |
| GI:4503243 | GenBank | ABM85421.1 | 509 | cytochrome P450, family 51, subfamily A, polypeptide 1, partial [synthetic construct] |
| GI:225903399 | GenBank | ACM86233.1 | 509 | Sequence 11731 from patent US 6812339 |
| GI:225903399 | GenBank | ACW21182.1 | 509 | Sequence 73 from patent US 7560233 |
| GI:4503243 | GenBank | AIC54260.1 | 509 | CYP51A1, partial [synthetic construct] |