Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1595
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome P450 family 51 subfamily A member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYP51A1
Synonyms (NCBI Gene) Gene synonyms aliases
CP51, CYP51, CYPL1, LDM, P450-14DM, P450L1
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601637 2649 ENSG00000001630
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Cataract cataract N/A N/A GenCC
Dyslexia Dyslexia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 36769199
Carcinoma Renal Cell Associate 34513998
Cataract Associate 22935719
Colorectal Neoplasms Associate 27341022
Coronary Artery Disease Associate 26153245
Crohn Disease Associate 35872023
Neoplasms Associate 19667409, 27341022, 28962550, 33924405