• Gene id: 1595

Gene Summary

• Gene Symbol: CYP51A1   Gene   UCSC   Ensembl
• Aliases: CP51, CYP51, CYPL1, LDM, P450-14DM, P450L1
• Gene name: cytochrome P450 family 51 subfamily A member 1
• Alternate names: lanosterol 14-alpha demethylase, CYPLI, cytochrome P450 51A1, cytochrome P450, 51 (lanosterol 14-alpha-demethylase), cytochrome P450, family 51, subfamily A, polypeptide 1, cytochrome P450-14DM, cytochrome P45014DM, cytochrome P450LI, sterol 14-alpha demethylase,
• Gene location: 7q21.2 (92134744: 92112148)     Exons: 11     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 150240

Protein Summary

• Protein general information: Q16850  
  • Name: Lanosterol 14 alpha demethylase (LDM) (EC 1.14.14.154) (CYPLI) (Cytochrome P450 51A1) (Cytochrome P450 14DM) (Cytochrome P45014DM) (Cytochrome P450LI) (Sterol 14 alpha demethylase)
  • Length: 503  
  • Mass: 56806
  • Tissue specificity: Ubiquitously expressed with highest levels in testis, ovary, adrenal, prostate, liver, kidney and lung. {ECO
• Sequence:

  MLLLGLLQAGGSVLGQAMEKVTGGNLLSMLLIACAFTLSLVYLIRLAAGHLVQLPAGVKSPPYIFSPIPFLGHAI
  AFGKSPIEFLENAYEKYGPVFSFTMVGKTFTYLLGSDAAALLFNSKNEDLNAEDVYSRLTTPVFGKGVAYDVPNP
  VFLEQKKMLKSGLNIAHFKQHVSIIEKETKEYFESWGESGEKNVFEALSELIILTASHCLHGKEIRSQLNEKVAQ
  LYADLDGGFSHAAWLLPGWLPLPSFRRRDRAHREIKDIFYKAIQKRRQSQEKIDDILQTLLDATYKDGRPLTDDE
  VAGMLIGLLLAGQHTSSTTSAWMGFFLARDKTLQKKCYLEQKTVCGENLPPLTYDQLKDLNLLDRCIKETLRLRP
  PIMIMMRMARTPQTVAGYTIPPGHQVCVSPTVNQRLKDSWVERLDFNPDRYLQDNPASGEKFAYVPFGAGRHRCI
  GENFAYVQIKTIWSTMLRLYEFDLIDGYFPTVNYTTMIHTPENPVIRYKRRSK

• Structural information:
  • Interpro: IPR001128  IPR017972  IPR002403  IPR036396  
  • Prosite: PS00086
  • PDB: 3JUS 3JUV 3LD6 4UHI 4UHL 6Q2T
  • PDBsum: 3JUS 3JUV 3LD6 4UHI 4UHL 6Q2T
  • STRING: ENSP00000003100
• Other Databases: GeneCards:  CYP51A1  Malacards:  CYP51A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042177	negative regulation of protein catabolic process	ISS	biological process
GO:1900222	negative regulation of amyloid-beta clearance	ISS	biological process
GO:0050709	negative regulation of protein secretion	ISS	biological process
GO:0055114	oxidation-reduction process	IBA	biological process
GO:0033488	cholesterol biosynthetic process via 24,25-dihydrolanosterol	IBA	biological process
GO:0008398	sterol 14-demethylase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0016126	sterol biosynthetic process	IBA	biological process
GO:0016125	sterol metabolic process	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0020037	heme binding	IDA	molecular function
GO:0008398	sterol 14-demethylase activity	IDA	molecular function
GO:0006694	steroid biosynthetic process	IDA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0016125	sterol metabolic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006695	cholesterol biosynthetic process	TAS	biological process
GO:0008398	sterol 14-demethylase activity	TAS	molecular function
GO:0045540	regulation of cholesterol biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0070988	demethylation	IEA	biological process
GO:0070988	demethylation	IEA	biological process
GO:0070988	demethylation	IEA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00100	Steroid biosynthesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881