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mutLBSgeneDB |
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| Gene summary for CYP46A1 |
 Gene summary |
| Basic gene Info. | Gene symbol | CYP46A1 |
| Gene name | cytochrome P450, family 46, subfamily A, polypeptide 1 | |
| Synonyms | CP46|CYP46 | |
| Cytomap | UCSC genome browser: 14q32.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_006668.1, | |
| Description | CH24Hcholesterol 24-hydroxylasecytochrome P450 46A1cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase) | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604087 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000036530 | ||
| HPRD : 04970 | ||
| Vega : OTTHUMG00000171510 | ||
| Protein | UniProt: Q9Y6A2 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CYP46A1 | |
| BioGPS: 10858 | ||
| Pathway | NCI Pathway Interaction Database: CYP46A1 | |
| KEGG: CYP46A1 | ||
| REACTOME: CYP46A1 | ||
| Pathway Commons: CYP46A1 | ||
| Context | iHOP: CYP46A1 | |
| ligand binding site mutation search in PubMed: CYP46A1 | ||
| UCL Cancer Institute: CYP46A1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006707 | cholesterol catabolic process | 18621681 | GO:0006805 | xenobiotic metabolic process | 20667828 |
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| Ligand binding site mutations for CYP46A1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R435 | R435H | BLCA | 1 | K104 | K104N | COAD | 1 | R138 | R138Q | GBM | 1 | F371 | R372H | HNSC | 1 | M108 | K107N | KIRC | 1 | F145 | L143P | KIRC | 1 | R110 | R110S | LUAD | 1 | W134 | W134C | LUAD | 1 | W134 | E132D | LUAD | 1 | R226 | R226S | LUAD | 1 | R110 | R110S | SKCM | 1 | I222 | G221E | SKCM | 1 | A111 | A111V | STAD | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for CYP46A1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | F145 | L143P | -1.5986263 | R138 | R138Q | -1.5557425 | W134 | E132D | -1.1937131 | M108 | K107N | -1.1206817 | R435 | R435H | -1.0164453 | K104 | K104N | -0.93538187 | W134 | W134C | -0.86533762 | F371 | R372H | -0.7982925 | R226 | R226S | -0.70442507 | R110 | R110S | -0.5999993 | I222 | G221E | -0.52389121 | A111 | A111V | -0.32170069 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for CYP46A1 from PDB |
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| Differential gene expression and gene-gene network for CYP46A1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for CYP46A1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0002395 | Alzheimer Disease | 24 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CYP46A1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CYP46A1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | VOR | VORICONAZOLE | 3mdt | B | I222 | FVX | FLUVOXAMINE | 2-[({(1E)-5-METHOXY-1-[4-(TRIFLUOROMETHYL) PHENYL]PENTYLIDENE}AMINO)OXY]ETHANAMINE | 4enh | A | I222 F371 | 0U9 | S-BICALUTAMIDE | (2S)-N-[4-CYANO-3-(TRIFLUOROMETHYL)PHENYL]-3-[(4- FLUOROPHENYL)SULFONYL]-2-HYDROXY-2-METHYLPROPANAMIDE | 4fia | A | I222 R226 F371 | 198 | BICALUTAMIDE | 4fia | A | I222 R226 F371 | HEM | HEME B | 2q9g | A | K104 W134 R138 F145 R435 | HEM | HEME B | 3mdr | A | K104 W134 R138 F145 R435 | HEM | HEME B | 3mdr | B | K104 W134 R138 F145 R435 | HEM | HEME B | 3mdt | A | K104 W134 R138 F145 R435 | HEM | HEME B | 3mdv | A | K104 W134 R138 F145 R435 | HEM | HEME B | 4enh | A | K104 W134 R138 F145 R435 | HEM | HEME B | 4j14 | A | K104 W134 R138 F145 R435 | HEM | HEME B | 2q9f | A | K104 W134 R138 R435 | HEM | HEME B | 3mdm | A | K104 W134 R138 R435 | HEM | HEME B | 3mdt | B | K104 W134 R138 R435 | HEM | HEME B | 3mdv | B | K104 W134 R138 R435 | HEM | HEME B | 4fia | A | K104 W134 R138 R435 | X2N | POSACONAZOLE | 4j14 | A | M108 A111 R226 F371 | C3S | CHOLESTEROL SULFATE | 2q9f | A | M108 R110 R226 F371 | FJZ | N-CYCLOHEXYL-4-(1H-IMIDAZOL-5-YL)PIPERIDINE-1-CARBOTHIOAMIDE | 3mdm | A | R226 F371 |
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| Conservation information for LBS of CYP46A1 |
| Multiple alignments for Q9Y6A2 in multiple species |
| LBS | AA sequence | # species | Species | A111 | KMY-RALQTVF | 2 | Homo sapiens, Mus musculus | A111 | KAYSKGILAEI | 1 | Arabidopsis thaliana | A302 | VTFFIAGHETS | 2 | Homo sapiens, Mus musculus | A302 | MTMLIAGHETS | 1 | Arabidopsis thaliana | A367 | RLYPPAWGTFR | 2 | Homo sapiens, Mus musculus | A367 | RLYPQPPVLIR | 1 | Arabidopsis thaliana | A443 | IGQQFAQMEVK | 2 | Homo sapiens, Mus musculus | A443 | IGDMFASFENV | 1 | Arabidopsis thaliana | A474 | GLQEQATLKPL | 2 | Homo sapiens, Mus musculus | A474 | KMTTGATIHTT | 1 | Arabidopsis thaliana | C437 | LGHRSCIGQQF | 2 | Homo sapiens, Mus musculus | C437 | GGPRKCIGDMF | 1 | Arabidopsis thaliana | E305 | FIAGHETSANH | 2 | Homo sapiens, Mus musculus | E305 | LIAGHETSAAV | 1 | Arabidopsis thaliana | E446 | QFAQMEVKVVM | 2 | Homo sapiens, Mus musculus | E446 | MFASFENVVAI | 1 | Arabidopsis thaliana | E472 | RFGLQEQATLK | 2 | Homo sapiens, Mus musculus | E472 | PVKMTTGATIH | 1 | Arabidopsis thaliana | F121 | FGERLFGQGLV | 2 | Homo sapiens, Mus musculus | F121 | ILDFVMGKGLI | 1 | Arabidopsis thaliana | F145 | VIDLAFSRSSL | 1 | Homo sapiens | F145 | AIVPALHQKYV | 1 | Arabidopsis thaliana | F145 | VMDLAFSRSSL | 1 | Mus musculus | F299 | DNFVTFFIAGH | 2 | Homo sapiens, Mus musculus | F299 | DDLMTMLIAGH | 1 | Arabidopsis thaliana | F371 | PAWGTFRLLEE | 2 | Homo sapiens, Mus musculus | F371 | QPPVLIRRSID | 1 | Arabidopsis thaliana | F430 | FTYFPFSLGHR | 2 | Homo sapiens, Mus musculus | F430 | FSYLPFGGGPR | 1 | Arabidopsis thaliana | F442 | CIGQQFAQMEV | 2 | Homo sapiens, Mus musculus | F442 | CIGDMFASFEN | 1 | Arabidopsis thaliana | F80 | VRVNVFHKTSV | 1 | Homo sapiens | F80 | FRLTFGPKSFL | 1 | Arabidopsis thaliana | F80 | VRVNVFYKTSV | 1 | Mus musculus | G303 | TFFIAGHETSA | 2 | Homo sapiens, Mus musculus | G303 | TMLIAGHETSA | 1 | Arabidopsis thaliana | G369 | YPPAWGTFRLL | 2 | Homo sapiens, Mus musculus | G369 | YPQPPVLIRRS | 1 | Arabidopsis thaliana | G439 | HRSCIGQQFAQ | 2 | Homo sapiens, Mus musculus | G439 | PRKCIGDMFAS | 1 | Arabidopsis thaliana | H310 | ETSANHLAFTV | 2 | Homo sapiens, Mus musculus | H310 | ETSAAVLTWTF | 1 | Arabidopsis thaliana | H81 | RVNVFHKTSVI | 1 | Homo sapiens | H81 | RLTFGPKSFLI | 1 | Arabidopsis thaliana | H81 | RVNVFYKTSVI | 1 | Mus musculus | I222 | LMLEGITASRN | 1 | Homo sapiens | I222 | VLREAEDRSVS | 1 | Arabidopsis thaliana | I222 | VMLEGISASRN | 1 | Mus musculus | I301 | FVTFFIAGHET | 2 | Homo sapiens, Mus musculus | I301 | LMTMLIAGHET | 1 | Arabidopsis thaliana | I438 | GHRSCIGQQFA | 2 | Homo sapiens, Mus musculus | I438 | GPRKCIGDMFA | 1 | Arabidopsis thaliana | K104 | STKYNKDSKMY | 2 | Homo sapiens, Mus musculus | K104 | ----KDNAKAY | 1 | Arabidopsis thaliana | L112 | MY-RALQTVFG | 2 | Homo sapiens, Mus musculus | L112 | AYSKGILAEIL | 1 | Arabidopsis thaliana | L125 | LFGQGLVSECN | 1 | Homo sapiens | L125 | VMGKGLIP-AD | 1 | Arabidopsis thaliana | L125 | LFGQGLVSECD | 1 | Mus musculus | L219 | AVKLMLEGITA | 1 | Homo sapiens | L219 | VYTVLREAEDR | 1 | Arabidopsis thaliana | L219 | AVKVMLEGISA | 1 | Mus musculus | M108 | NKDSKMY-RAL | 2 | Homo sapiens, Mus musculus | M108 | KDNAKAYSKGI | 1 | Arabidopsis thaliana | N227 | ITASRNTLAKF | 1 | Homo sapiens | N227 | EDRSVSPIPVW | 1 | Arabidopsis thaliana | N227 | ISASRNTLAKF | 1 | Mus musculus | P429 | RFTYFPFSLGH | 2 | Homo sapiens, Mus musculus | P429 | NFSYLPFGGGP | 1 | Arabidopsis thaliana | R110 | SKMY-RALQTV | 2 | Homo sapiens, Mus musculus | R110 | AKAYSKGILAE | 1 | Arabidopsis thaliana | R138 | RWHKQRRVIDL | 1 | Homo sapiens | R138 | IWRRRRRAIVP | 1 | Arabidopsis thaliana | R138 | RWYKQRKVMDL | 1 | Mus musculus | R226 | GITASRNTLAK | 1 | Homo sapiens | R226 | AEDRSVSPIPV | 1 | Arabidopsis thaliana | R226 | GISASRNTLAK | 1 | Mus musculus | R435 | FSLGHRSCIGQ | 2 | Homo sapiens, Mus musculus | R435 | FGGGPRKCIGD | 1 | Arabidopsis thaliana | S127 | GQGLVSECNYE | 1 | Homo sapiens | S127 | GKGLIP-ADGE | 1 | Arabidopsis thaliana | S127 | GQGLVSECDYG | 1 | Mus musculus | S307 | AGHETSANHLA | 2 | Homo sapiens, Mus musculus | S307 | AGHETSAAVLT | 1 | Arabidopsis thaliana | S431 | TYFPFSLGHRS | 2 | Homo sapiens, Mus musculus | S431 | SYLPFGGGPRK | 1 | Arabidopsis thaliana | S436 | SLGHRSCIGQQ | 2 | Homo sapiens, Mus musculus | S436 | GGGPRKCIGDM | 1 | Arabidopsis thaliana | T298 | LDNFVTFFIAG | 2 | Homo sapiens, Mus musculus | T298 | RDDLMTMLIAG | 1 | Arabidopsis thaliana | T306 | IAGHETSANHL | 2 | Homo sapiens, Mus musculus | T306 | IAGHETSAAVL | 1 | Arabidopsis thaliana | T370 | PPAWGTFRLLE | 2 | Homo sapiens, Mus musculus | T370 | PQPPVLIRRSI | 1 | Arabidopsis thaliana | T475 | LQEQATLKPLD | 2 | Homo sapiens, Mus musculus | T475 | MTTGATIHTTE | 1 | Arabidopsis thaliana | V126 | FGQGLVSECNY | 1 | Homo sapiens | V126 | MGKGLIP-ADG | 1 | Arabidopsis thaliana | V126 | FGQGLVSECDY | 1 | Mus musculus | V79 | VVRVNVFHKTS | 1 | Homo sapiens | V79 | IFRLTFGPKSF | 1 | Arabidopsis thaliana | V79 | VVRVNVFYKTS | 1 | Mus musculus | W134 | CNYERWHKQRR | 1 | Homo sapiens | W134 | ADGEIWRRRRR | 1 | Arabidopsis thaliana | W134 | CDYGRWYKQRK | 1 | Mus musculus | W368 | LYPPAWGTFRL | 2 | Homo sapiens, Mus musculus | W368 | LYPQPPVLIRR | 1 | Arabidopsis thaliana | Y109 | KDSKMY-RALQ | 2 | Homo sapiens, Mus musculus | Y109 | DNAKAYSKGIL | 1 | Arabidopsis thaliana |
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