Details for: CYP51A1

Gene ID: 1595

Symbol: CYP51A1

Ensembl ID: ENSG00000001630

Description: cytochrome P450 family 51 subfamily A member 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 165.4503
    Cell Significance Index: -25.7400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 101.9147
    Cell Significance Index: -25.8500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 20.9699
    Cell Significance Index: -25.8600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 10.0826
    Cell Significance Index: -27.0100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.5762
    Cell Significance Index: -25.9500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.7855
    Cell Significance Index: -17.7700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 5.2981
    Cell Significance Index: 141.9700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 4.2389
    Cell Significance Index: 39.0400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 2.2096
    Cell Significance Index: 51.0500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.7427
    Cell Significance Index: 314.1500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.4053
    Cell Significance Index: 172.8000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.3570
    Cell Significance Index: 61.5100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 1.3481
    Cell Significance Index: 33.7000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.2850
    Cell Significance Index: 72.1100
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 1.2391
    Cell Significance Index: 12.5000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.1727
    Cell Significance Index: 127.5500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0858
    Cell Significance Index: 217.8100
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.0561
    Cell Significance Index: 17.7600
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 1.0502
    Cell Significance Index: 10.9400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.9805
    Cell Significance Index: 28.1100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.8462
    Cell Significance Index: 52.0100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.8281
    Cell Significance Index: 19.8600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.7327
    Cell Significance Index: 21.5200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7237
    Cell Significance Index: 653.4800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5753
    Cell Significance Index: 16.5800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5602
    Cell Significance Index: 200.9500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4464
    Cell Significance Index: 308.7600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3718
    Cell Significance Index: 25.7100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.3222
    Cell Significance Index: 3.6600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3129
    Cell Significance Index: 19.7200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2699
    Cell Significance Index: 43.9000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2629
    Cell Significance Index: 33.7000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2341
    Cell Significance Index: 12.1600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2156
    Cell Significance Index: 41.0300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1837
    Cell Significance Index: 3.9800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1569
    Cell Significance Index: 12.0400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1451
    Cell Significance Index: 5.1000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0607
    Cell Significance Index: 33.1600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0500
    Cell Significance Index: 5.9000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0312
    Cell Significance Index: 0.8500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0297
    Cell Significance Index: 0.7800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0282
    Cell Significance Index: 0.5800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0200
    Cell Significance Index: 1.9800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0070
    Cell Significance Index: 0.1500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0047
    Cell Significance Index: 0.2400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0026
    Cell Significance Index: 1.1700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0001
    Cell Significance Index: -0.0100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0007
    Cell Significance Index: -0.0900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0062
    Cell Significance Index: -4.5600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0079
    Cell Significance Index: -4.9500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0135
    Cell Significance Index: -25.4000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0157
    Cell Significance Index: -29.0400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0188
    Cell Significance Index: -28.9000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0189
    Cell Significance Index: -14.3300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0213
    Cell Significance Index: -28.9000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0251
    Cell Significance Index: -7.2100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0267
    Cell Significance Index: -19.5600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0345
    Cell Significance Index: -19.4800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0384
    Cell Significance Index: -24.4100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0553
    Cell Significance Index: -25.1000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0631
    Cell Significance Index: -13.2800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0843
    Cell Significance Index: -9.8200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0959
    Cell Significance Index: -4.2400
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.1019
    Cell Significance Index: -0.6400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1041
    Cell Significance Index: -11.9300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1052
    Cell Significance Index: -2.8100
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.1225
    Cell Significance Index: -0.7400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1268
    Cell Significance Index: -4.8000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1297
    Cell Significance Index: -25.7300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1440
    Cell Significance Index: -6.7700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1533
    Cell Significance Index: -19.8000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1544
    Cell Significance Index: -15.7700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1647
    Cell Significance Index: -5.2800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1752
    Cell Significance Index: -8.1700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1774
    Cell Significance Index: -25.7900
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1804
    Cell Significance Index: -2.2500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1813
    Cell Significance Index: -7.4300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2110
    Cell Significance Index: -14.9200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2138
    Cell Significance Index: -24.4000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2394
    Cell Significance Index: -6.6900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2526
    Cell Significance Index: -18.8300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2556
    Cell Significance Index: -26.6200
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.2578
    Cell Significance Index: -1.5300
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: -0.2606
    Cell Significance Index: -1.3000
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.2608
    Cell Significance Index: -3.3400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.2697
    Cell Significance Index: -3.3500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2991
    Cell Significance Index: -18.3400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3160
    Cell Significance Index: -25.0300
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.3458
    Cell Significance Index: -4.3700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3521
    Cell Significance Index: -7.7100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3732
    Cell Significance Index: -7.9200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3799
    Cell Significance Index: -24.5100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3981
    Cell Significance Index: -26.7700
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.3994
    Cell Significance Index: -5.3900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4020
    Cell Significance Index: -13.1600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4350
    Cell Significance Index: -15.2400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4350
    Cell Significance Index: -22.8400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4366
    Cell Significance Index: -13.9100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4368
    Cell Significance Index: -5.9600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.4652
    Cell Significance Index: -9.3400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Subcellular localization:** CYP51A1 is primarily localized to the endoplasmic reticulum (ER), where it plays a key role in the biosynthesis of cholesterol and other sterols. 2. **Substrate specificity:** CYP51A1 is a 14α-demethylase, meaning it catalyzes the conversion of lanosterol to ergosterol, a key step in the biosynthesis of cholesterol. 3. **Regulation:** CYP51A1 is regulated by several transcription factors, including SREBP (sterol regulatory element-binding protein), which plays a critical role in the control of cholesterol biosynthesis. 4. **Expression pattern:** CYP51A1 is expressed in various cell types, including cortical cells of the adrenal gland, Sertoli cells, and L5 extratelencephalic projecting glutamatergic cortical neurons. **Pathways and Functions:** 1. **Cholesterol biosynthesis:** CYP51A1 is involved in the conversion of lanosterol to ergosterol, a key step in the biosynthesis of cholesterol. 2. **Steroid biosynthesis:** CYP51A1 is also involved in the biosynthesis of other sterols, including ergosterol, which is essential for fungal cell membrane synthesis. 3. **Metabolism of lipids:** CYP51A1 plays a role in the oxidation of lipids, which is essential for the regulation of lipid metabolism. 4. **Regulation of cholesterol biosynthesis:** CYP51A1 is regulated by SREBP, which plays a critical role in the control of cholesterol biosynthesis. **Clinical Significance:** 1. **Metabolic disorders:** Dysregulation of CYP51A1 has been implicated in various metabolic disorders, including hypercholesterolemia and atherosclerosis. 2. **Neurological conditions:** CYP51A1 has been implicated in the pathogenesis of neurological conditions, including Alzheimer's disease and Parkinson's disease. 3. **Cancer:** CYP51A1 has been found to be overexpressed in certain types of cancer, including prostate cancer and breast cancer. 4. **Fungal infections:** CYP51A1 plays a critical role in the biosynthesis of ergosterol, which is essential for fungal cell membrane synthesis. Dysregulation of CYP51A1 has been implicated in the development of antifungal resistance. In conclusion, the CYP51A1 gene plays a critical role in the biosynthesis of cholesterol and other sterols, and its dysregulation has been implicated in various diseases, including metabolic disorders, neurological conditions, and cancer. Further research is needed to fully understand the role of CYP51A1 in human health and disease.

Genular Protein ID: 1634872140

Symbol: CP51A_HUMAN

Name: CYPLI

UniProtKB Accession Codes:

Q16850 A0A0C4DFL7 A4D1F8 B2RAI4 B4DJ55 O00770 O00772 Q16784 Q8N1A8 Q99868

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 93 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 DrugCentral 1 EC 2 EMBL 18 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 12 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 9 PDBsum 9 PIR 2 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 4 RefSeq 2 Rhea 48 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8619637

Title: The ubiquitously expressed human CYP51 encodes lanosterol 14 alpha-demethylase, a cytochrome P450 whose expression is regulated by oxysterols.

PubMed ID: 8619637

DOI: 10.1006/abbi.1996.0193

PubMed ID: 8797093

Title: Sterol 14-demethylase P450 (P45014DM*) is one of the most ancient and conserved P450 species.

PubMed ID: 8797093

DOI: 10.1093/oxfordjournals.jbchem.a021331

PubMed ID: 8809088

Title: The three human cytochrome P450 lanosterol 14 alpha-demethylase (CYP51) genes reside on chromosomes 3, 7, and 13: structure of the two retrotransposed pseudogenes, association with a line-1 element, and evolution of the human CYP51 family.

PubMed ID: 8809088

DOI: 10.1006/abbi.1996.0416

PubMed ID: 8975714

Title: Structure and mapping of the human lanosterol 14alpha-demethylase gene (CYP51) encoding the cytochrome P450 involved in cholesterol biosynthesis; comparison of exon/intron organization with other mammalian and fungal CYP genes.

PubMed ID: 8975714

DOI: 10.1006/geno.1996.0640

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9559662

Title: Molecular diversity of sterol 14alpha-demethylase substrates in plants, fungi and humans.

PubMed ID: 9559662

DOI: 10.1016/s0014-5793(98)00247-6

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 20149798

Title: Structural basis of human CYP51 inhibition by antifungal azoles.

PubMed ID: 20149798

DOI: 10.1016/j.jmb.2010.01.075

Sequence Information:

  • Length: 509
  • Mass: 57278
  • Checksum: F9145DDB65F94091
  • Sequence:
    • MAAAAGMLLL GLLQAGGSVL GQAMEKVTGG NLLSMLLIAC AFTLSLVYLI RLAAGHLVQL 
PAGVKSPPYI FSPIPFLGHA IAFGKSPIEF LENAYEKYGP VFSFTMVGKT FTYLLGSDAA 
ALLFNSKNED LNAEDVYSRL TTPVFGKGVA YDVPNPVFLE QKKMLKSGLN IAHFKQHVSI 
IEKETKEYFE SWGESGEKNV FEALSELIIL TASHCLHGKE IRSQLNEKVA QLYADLDGGF 
SHAAWLLPGW LPLPSFRRRD RAHREIKDIF YKAIQKRRQS QEKIDDILQT LLDATYKDGR 
PLTDDEVAGM LIGLLLAGQH TSSTTSAWMG FFLARDKTLQ KKCYLEQKTV CGENLPPLTY 
DQLKDLNLLD RCIKETLRLR PPIMIMMRMA RTPQTVAGYT IPPGHQVCVS PTVNQRLKDS 
WVERLDFNPD RYLQDNPASG EKFAYVPFGA GRHRCIGENF AYVQIKTIWS TMLRLYEFDL 
IDGYFPTVNY TTMIHTPENP VIRYKRRSK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.