Homo sapiens Gene: CYP51A1
Summary
InnateDB Gene IDBG-26219.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CYP51A1
Gene Name cytochrome P450, family 51, subfamily A, polypeptide 1
Synonyms CP51; CYP51; CYPL1; LDM; P450-14DM; P450L1
Species Homo sapiens
Ensembl Gene ENSG00000001630
Encoded Proteins
cytochrome P450, family 51, subfamily A, polypeptide 1
cytochrome P450, family 51, subfamily A, polypeptide 1
cytochrome P450, family 51, subfamily A, polypeptide 1
cytochrome P450, family 51, subfamily A, polypeptide 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:92112151-92142952
Strand Reverse strand
Band q21.2
Transcripts
ENST00000003100 ENSP00000003100
ENST00000450723 ENSP00000406757
ENST00000422867 ENSP00000394268
ENST00000435873 ENSP00000412536
ENST00000482924
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 2 [view]
Protein-DNA 5 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005506 iron ion binding
GO:0008398 sterol 14-demethylase activity
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0020037 heme binding
Biological Process
GO:0006694 steroid biosynthetic process
GO:0006695 cholesterol biosynthetic process
GO:0006805 xenobiotic metabolic process
GO:0016125 sterol metabolic process
GO:0033488 cholesterol biosynthetic process via 24,25-dihydrolanosterol
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
GO:0070988 demethylation
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Activation of gene expression by SREBF (SREBP) pathway
Regulation of cholesterol biosynthesis by SREBP (SREBF) pathway
Cholesterol biosynthesis pathway
Endogenous sterols pathway
Metabolism of lipids and lipoproteins pathway
Cytochrome P450 - arranged by substrate type pathway
Metabolism pathway
Biological oxidations pathway
Phase 1 - Functionalization of compounds pathway
KEGG
Steroid biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.417077 Hs.602628
RefSeq NM_000786 NM_001146152
HUGO
OMIM
CCDS CCDS55123 CCDS5623
HPRD 03381
IMGT
EMBL
GenPept
RNA Seq Atlas