Details for: CYP46A1

Gene ID: 10858

Symbol: CYP46A1

Ensembl ID: ENSG00000036530

Description: cytochrome P450 family 46 subfamily A member 1

Associated with

Cells (max top 100)

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

  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.67
    Marker Score: 14,322
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1,164
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.57
    Marker Score: 57,981
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.52
    Marker Score: 6,314
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.49
    Marker Score: 14,200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.48
    Marker Score: 13,957
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169,393
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.47
    Marker Score: 2,273
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.46
    Marker Score: 5,953
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.44
    Marker Score: 30,703
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.38
    Marker Score: 27,546
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.36
    Marker Score: 83,773
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 1.36
    Marker Score: 487
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.3
    Marker Score: 2,458
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.26
    Marker Score: 47,794
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 850
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.16
    Marker Score: 11,943
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.16
    Marker Score: 8,858
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4,812
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.14
    Marker Score: 17,063
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.13
    Marker Score: 4,361
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.07
    Marker Score: 1,799
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 792
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.01
    Marker Score: 1,756
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,821
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,046
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.98
    Marker Score: 15,402
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,408
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 504
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 458
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.95
    Marker Score: 625
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,412
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.94
    Marker Score: 1,921
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.92
    Marker Score: 370
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.92
    Marker Score: 383
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5,249
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,738
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 322
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.88
    Marker Score: 2,512
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,286
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.85
    Marker Score: 2,006
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.82
    Marker Score: 257
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.79
    Marker Score: 460
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.78
    Marker Score: 250
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.78
    Marker Score: 939
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1,257
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 705
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 393
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.73
    Marker Score: 24,584
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.69
    Marker Score: 291
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 176
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.69
    Marker Score: 549
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.68
    Marker Score: 409
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.66
    Marker Score: 884
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.63
    Marker Score: 549
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.6
    Marker Score: 3,618
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.58
    Marker Score: 2,426
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.57
    Marker Score: 274
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.57
    Marker Score: 365
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.56
    Marker Score: 801
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.55
    Marker Score: 2,297
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.54
    Marker Score: 1,106
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.54
    Marker Score: 672
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.54
    Marker Score: 171
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.52
    Marker Score: 143
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.52
    Marker Score: 166
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.51
    Marker Score: 150
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.5
    Marker Score: 292
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.49
    Marker Score: 481
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.48
    Marker Score: 1,694
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.47
    Marker Score: 198
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.45
    Marker Score: 434
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.45
    Marker Score: 199
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.42
    Marker Score: 237
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.4
    Marker Score: 21,326
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.38
    Marker Score: 8,404
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.37
    Marker Score: 99
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.37
    Marker Score: 243
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.36
    Marker Score: 339
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.35
    Marker Score: 181
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.34
    Marker Score: 3,488
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.34
    Marker Score: 98
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 0.34
    Marker Score: 1,062
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.33
    Marker Score: 86
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.32
    Marker Score: 239
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.32
    Marker Score: 108
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.31
    Marker Score: 143
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.31
    Marker Score: 385
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.3
    Marker Score: 284
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 0.3
    Marker Score: 578
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.3
    Marker Score: 136
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.29
    Marker Score: 1,363
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.29
    Marker Score: 350
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.29
    Marker Score: 349
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.29
    Marker Score: 86
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.29
    Marker Score: 332
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.29
    Marker Score: 91
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.28
    Marker Score: 1,009
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.28
    Marker Score: 173

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:** CYP46A1 is a cytochrome P450 enzyme that belongs to the 46 subfamily of the cytochrome P450 family. It is primarily expressed in the endoplasmic reticulum and is involved in the hydroxylation of cholesterol, resulting in the production of 24-hydroxycholesterol, a potent regulator of bile acid synthesis. This enzyme is also implicated in the metabolism of various steroids, including testosterone and progesterone. The CYP46A1 gene has been associated with several neurological disorders, including Alzheimer's disease and Parkinson's disease, highlighting its potential role in neurodegenerative processes. **Pathways and Functions:** CYP46A1 is involved in several key pathways, including: 1. **Bile acid biosynthesis:** CYP46A1 is a critical enzyme in the synthesis of bile acids from cholesterol. The enzyme converts cholesterol into 24-hydroxycholesterol, which is then further metabolized to produce bile acids. 2. **Steroid hydroxylase activity:** CYP46A1 is capable of hydroxylating various steroids, including testosterone and progesterone, resulting in the production of metabolites with distinct biological activities. 3. **Cholesterol catabolic process:** CYP46A1 is involved in the degradation of cholesterol, which is essential for maintaining cholesterol homeostasis in the body. 4. **Neurotransmission regulation:** CYP46A1 has been shown to modulate synaptic transmission in the nervous system, suggesting its involvement in the regulation of neuronal communication. **Clinical Significance:** CYP46A1 has been implicated in several neurological disorders, including: 1. **Alzheimer's disease:** Studies have shown that CYP46A1 is downregulated in the brains of Alzheimer's disease patients, suggesting its potential role in the pathogenesis of the disease. 2. **Parkinson's disease:** CYP46A1 has been associated with Parkinson's disease, and its dysregulation may contribute to the development of the disease. 3. **Bile acid-related disorders:** CYP46A1 plays a critical role in bile acid synthesis, and its dysfunction can lead to bile acid-related disorders, such as primary biliary cholangitis and primary sclerosing cholangitis. 4. **Cancer:** CYP46A1 has been implicated in cancer development, particularly in colon cancer, where it is involved in the metabolism of bile acids and steroids. In conclusion, CYP46A1 is a critical enzyme in the metabolism of bile acids and steroids, and its dysregulation has been implicated in various neurological and metabolic disorders. Further studies are necessary to fully elucidate the functional roles of CYP46A1 and its potential therapeutic applications.

Genular Protein ID: 4010251252

Symbol: CP46A_HUMAN

Name: Cholesterol 24-monooxygenase

UniProtKB Accession Codes:

Q9Y6A2 B4DHP8 E7EQG9 Q8N2B0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 100 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 6 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 18 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 2 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 26 PDBsum 15 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 3 RNAct 1 Reactome 2 RefSeq 1 Rhea 56 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 2 TreeFam 1 UCSC 1 UniPathway 2 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 10377398

Title: cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain.

PubMed ID: 10377398

DOI: 10.1073/pnas.96.13.7238

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

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: 12077124

Title: Metabolism of 4 beta -hydroxycholesterol in humans.

PubMed ID: 12077124

DOI: 10.1074/jbc.m201712200

PubMed ID: 14640697

Title: Broad substrate specificity of human cytochrome P450 46A1 which initiates cholesterol degradation in the brain.

PubMed ID: 14640697

DOI: 10.1021/bi035512f

PubMed ID: 25017465

Title: Oxidation of 7-dehydrocholesterol and desmosterol by human cytochrome P450 46A1.

PubMed ID: 25017465

DOI: 10.1194/jlr.m051508

PubMed ID: 28190002

Title: Cytochrome P450 27A1 Deficiency and Regional Differences in Brain Sterol Metabolism Cause Preferential Cholestanol Accumulation in the Cerebellum.

PubMed ID: 28190002

DOI: 10.1074/jbc.m116.774760

PubMed ID: 18621681

Title: Crystal structures of substrate-bound and substrate-free cytochrome P450 46A1, the principal cholesterol hydroxylase in the brain.

PubMed ID: 18621681

DOI: 10.1073/pnas.0803717105

PubMed ID: 20667828

Title: Structural basis of drug binding to CYP46A1, an enzyme that controls cholesterol turnover in the brain.

PubMed ID: 20667828

DOI: 10.1074/jbc.m110.143313

PubMed ID: 23288837

Title: Binding of a cyano- and fluoro-containing drug bicalutamide to cytochrome P450 46A1: unusual features and spectral response.

PubMed ID: 23288837

DOI: 10.1074/jbc.m112.438754

Sequence Information:

  • Length: 500
  • Mass: 56821
  • Checksum: AB9307749D9E5FDA
  • Sequence:
    • MSPGLLLLGS AVLLAFGLCC TFVHRARSRY EHIPGPPRPS FLLGHLPCFW KKDEVGGRVL 
QDVFLDWAKK YGPVVRVNVF HKTSVIVTSP ESVKKFLMST KYNKDSKMYR ALQTVFGERL 
FGQGLVSECN YERWHKQRRV IDLAFSRSSL VSLMETFNEK AEQLVEILEA KADGQTPVSM 
QDMLTYTAMD ILAKAAFGME TSMLLGAQKP LSQAVKLMLE GITASRNTLA KFLPGKRKQL 
REVRESIRFL RQVGRDWVQR RREALKRGEE VPADILTQIL KAEEGAQDDE GLLDNFVTFF 
IAGHETSANH LAFTVMELSR QPEIVARLQA EVDEVIGSKR YLDFEDLGRL QYLSQVLKES 
LRLYPPAWGT FRLLEEETLI DGVRVPGNTP LLFSTYVMGR MDTYFEDPLT FNPDRFGPGA 
PKPRFTYFPF SLGHRSCIGQ QFAQMEVKVV MAKLLQRLEF RLVPGQRFGL QEQATLKPLD 
PVLCTLRPRG WQPAPPPPPC

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.