Gene Gene information from NCBI Gene database.
Entrez ID 1595
Gene name Cytochrome P450 family 51 subfamily A member 1
Gene symbol CYP51A1
Synonyms (NCBI Gene)
CP51CYP51CYPL1LDMP450-14DMP450L1
Chromosome 7
Chromosome location 7q21.2
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 r
miRNA miRNA information provided by mirtarbase database.
541
miRTarBase ID miRNA Experiments Reference
MIRT001555 hsa-miR-155-5p pSILAC 18668040
MIRT018801 hsa-miR-335-5p Microarray 18185580
MIRT001555 hsa-miR-155-5p Proteomics;Other 18668040
MIRT025395 hsa-miR-34a-5p Proteomics 21566225
MIRT025395 hsa-miR-34a-5p Proteomics 21566225
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0004497 Function Monooxygenase activity IEA
GO:0005506 Function Iron ion binding IEA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601637 2649 ENSG00000001630
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16850
Protein name Lanosterol 14-alpha demethylase (LDM) (EC 1.14.14.154) (CYPLI) (Cytochrome P450 51A1) (CYP51A1) (Cytochrome P450-14DM) (Cytochrome P45014DM) (Cytochrome P450LI) (Sterol 14-alpha demethylase)
Protein function Sterol 14alpha-demethylase that plays a critical role in the cholesterol biosynthesis pathway, being cholesterol the major sterol component in mammalian membranes as well as a precursor for bile acid and steroid hormone synthesis (PubMed:2014979
PDB 3JUS , 3JUV , 3LD6 , 4UHI , 4UHL , 6Q2T , 6UEZ , 8SBI , 8SS0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00067 p450 61 496 Cytochrome P450 Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed with highest levels in testis, ovary, adrenal, prostate, liver, kidney and lung. {ECO:0000269|PubMed:8619637}.
Sequence
Sequence length 503
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Steroid biosynthesis
Metabolic pathways
  Cholesterol biosynthesis
Endogenous sterols
Activation of gene expression by SREBF (SREBP)
EGR2 and SOX10-mediated initiation of Schwann cell myelination
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT Disgenet
Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alzheimer Disease Associate 36769199
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 34513998
★☆☆☆☆
Found in Text Mining only
Cataract Associate 22935719
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Associate 27341022
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Associate 26153245
★☆☆☆☆
Found in Text Mining only
Crohn Disease Associate 35872023
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 19667409, 27341022, 28962550, 33924405
★☆☆☆☆
Found in Text Mining only