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mutLBSgeneDB |
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| Gene summary for CYP1A1 |
 Gene summary |
| Basic gene Info. | Gene symbol | CYP1A1 |
| Gene name | cytochrome P450, family 1, subfamily A, polypeptide 1 | |
| Synonyms | AHH|AHRR|CP11|CYP1|P1-450|P450-C|P450DX | |
| Cytomap | UCSC genome browser: 15q24.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000499.3, | |
| Description | CYPIA1aryl hydrocarbon hydroxylasecytochrome P1-450, dioxin-induciblecytochrome P450 1A1cytochrome P450 form 6cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1cytochrome P450-Ccytochrome P450-P1flavoprotein-linked monooxyge | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 108330 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000140465 | ||
| HPRD : 00148 | ||
| Vega : OTTHUMG00000142812 | ||
| Protein | UniProt: P04798 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CYP1A1 | |
| BioGPS: 1543 | ||
| Pathway | NCI Pathway Interaction Database: CYP1A1 | |
| KEGG: CYP1A1 | ||
| REACTOME: CYP1A1 | ||
| Pathway Commons: CYP1A1 | ||
| Context | iHOP: CYP1A1 | |
| ligand binding site mutation search in PubMed: CYP1A1 | ||
| UCL Cancer Institute: CYP1A1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0017144 | drug metabolic process | 19219744 | GO:0055114 | oxidation-reduction process | 19219744 | GO:0071407 | cellular response to organic cyclic compound | 23275542 |
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| Ligand binding site mutations for CYP1A1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R135 | R134H | COAD | 1 | H388 | H388R | LUAD | 1 | G459 | E460K | SKCM | 1 | V382 | P383H | SKCM | 1 | R106 | R106Q | STAD | 1 | R135 | R134H | UCEC | 1 | G459 | G459S | UCEC | 1 | R135 | R136H | UCEC | 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 CYP1A1 |
| 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 | R106 | R106Q | -1.1620602 | V382 | P383H | -1.0982467 | G459 | E460K | -1.0443762 | G459 | G459S | -0.88787495 | R135 | R136H | -0.84244067 | H388 | H388R | -0.83024365 | R135 | R134H | -0.4561478 |
| (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 CYP1A1 from PDB |
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| Differential gene expression and gene-gene network for CYP1A1 |
| 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 CYP1A1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2239176 | Carcinoma, Hepatocellular | 31 | Biomarker, GeneticVariation |
| umls:C1458155 | Breast Neoplasms | 21 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0033578 | Prostatic Neoplasms | 9 | Biomarker, GeneticVariation |
| umls:C0021364 | Infertility, Male | 8 | Biomarker, GeneticVariation |
| umls:C0020538 | Hypertension | 7 | Biomarker, GeneticVariation |
| umls:C0024117 | Pulmonary Disease, Chronic Obstructive | 6 | Biomarker, GeneticVariation |
| umls:C0242706 | Hyperoxia | 3 | Biomarker |
| umls:C0011853 | Diabetes Mellitus, Experimental | 2 | Biomarker |
| umls:C0000786 | Abortion, Spontaneous | 2 | Biomarker, GeneticVariation |
| umls:C0020517 | Hypersensitivity | 2 | Biomarker, GeneticVariation |
| umls:C0022665 | Kidney Neoplasms | 2 | Biomarker, GeneticVariation |
| umls:C0028797 | Occupational Diseases | 2 | Biomarker, GeneticVariation |
| umls:C0018552 | Hamartoma | 1 | Biomarker |
| umls:C0003860 | Arteritis | 1 | Biomarker |
| umls:C0018800 | Cardiomegaly | 1 | Biomarker |
| umls:C0162820 | Dermatitis, Allergic Contact | 1 | Biomarker |
| umls:C0011609 | Drug Eruptions | 1 | Biomarker |
| umls:C0273115 | Lung Injury | 1 | Biomarker |
| umls:C0085096 | Peripheral Vascular Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CYP1A1 |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Investigational | DB02342 | 2-Methoxyestradiol | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CYP1A1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | HEM | HEME B | 4i8v | A | R106 R135 V382 H388 G459 | HEM | HEME B | 4i8v | B | R106 R135 V382 H388 G459 | HEM | HEME B | 4i8v | C | R106 R135 V382 H388 G459 | HEM | HEME B | 4i8v | D | R106 V382 H388 G459 |
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| Conservation information for LBS of CYP1A1 |
| Multiple alignments for P04798 in multiple species |
| LBS | AA sequence | # species | Species | A317 | LDLFGAGFDTV | 3 | Homo sapiens, Macaca mulatta, Mus musculus | A317 | FDLFGAGFDTI | 1 | Rattus norvegicus | A317 | NDIFGAGFDTV | 1 | Gallus gallus | A317 | NDLFGAGFDTV | 1 | Gallus gallus | A463 | IGETIARWEVF | 2 | Homo sapiens, Macaca mulatta | A463 | IGETIGRSEVF | 1 | Mus musculus | A463 | IGETIGRLEVF | 1 | Rattus norvegicus | A463 | IGENIGKWEVF | 1 | Gallus gallus | A463 | IGESIGRWEVF | 1 | Gallus gallus | C457 | LGKRKCIGETI | 3 | Macaca mulatta, Mus musculus, Rattus norvegicus | C457 | MGKRKCIGETI | 1 | Homo sapiens | C457 | LGKRRCIGENI | 1 | Gallus gallus | C457 | LGKRRCIGESI | 1 | Gallus gallus | D313 | INIVLDLFGAG | 1 | Homo sapiens | D313 | VNVVLDLFGAG | 1 | Macaca mulatta | D313 | ITIVLDLFGAG | 1 | Mus musculus | D313 | ITIVFDLFGAG | 1 | Rattus norvegicus | D313 | INLVNDIFGAG | 1 | Gallus gallus | D313 | ISIVNDLFGAG | 1 | Gallus gallus | D320 | FGAGFDTVTTA | 5 | Homo sapiens, Macaca mulatta, Mus musculus, Gallus gallus, Gallus gallus | D320 | FGAGFDTITTA | 1 | Rattus norvegicus | F224 | NLSNEFGEVTG | 2 | Mus musculus, Rattus norvegicus | F224 | NLNNNFGEVVG | 1 | Homo sapiens | F224 | NLSNNFGEVVG | 1 | Macaca mulatta | F224 | NVVDEFVDVTA | 1 | Gallus gallus | F224 | NMNTEFGDVAA | 1 | Gallus gallus | F258 | DLNEKFYSFMQ | 1 | Homo sapiens | F258 | DLNEKFHSFMQ | 1 | Macaca mulatta | F258 | DLNDKFYSFMK | 1 | Mus musculus | F258 | DLNKKFYSFMK | 1 | Rattus norvegicus | F258 | DFNKRFMKLLQ | 1 | Gallus gallus | F258 | DVNARFSAFVQ | 1 | Gallus gallus | F319 | LFGAGFDTVTT | 4 | Homo sapiens, Macaca mulatta, Mus musculus, Gallus gallus | F319 | LFGAGFDTITT | 1 | Rattus norvegicus | F319 | IFGAGFDTVTT | 1 | Gallus gallus | F381 | FRHSSFVPFTI | 4 | Homo sapiens, Macaca mulatta, Mus musculus, Rattus norvegicus | F381 | FRHSSFMPFTI | 1 | Gallus gallus | F381 | FRHSSLLPFTI | 1 | Gallus gallus | F450 | EKVILFGLGKR | 2 | Macaca mulatta, Rattus norvegicus | F450 | EKVIIFGMGKR | 1 | Homo sapiens | F450 | EKVTLFGLGKR | 1 | Mus musculus | F450 | EKVMTFGLGKR | 1 | Gallus gallus | F450 | DKVLIFGLGKR | 1 | Gallus gallus | G316 | VLDLFGAGFDT | 3 | Homo sapiens, Macaca mulatta, Mus musculus | G316 | VFDLFGAGFDT | 1 | Rattus norvegicus | G316 | VNDIFGAGFDT | 1 | Gallus gallus | G316 | VNDLFGAGFDT | 1 | Gallus gallus | G318 | DLFGAGFDTVT | 4 | Homo sapiens, Macaca mulatta, Mus musculus, Gallus gallus | G318 | DLFGAGFDTIT | 1 | Rattus norvegicus | G318 | DIFGAGFDTVT | 1 | Gallus gallus | G459 | KRKCIGETIAR | 2 | Homo sapiens, Macaca mulatta | G459 | KRKCIGETIGR | 2 | Mus musculus, Rattus norvegicus | G459 | KRRCIGENIGK | 1 | Gallus gallus | G459 | KRRCIGESIGR | 1 | Gallus gallus | H388 | PFTIPHSTTRD | 4 | Homo sapiens, Macaca mulatta, Mus musculus, Gallus gallus | H388 | PFTIPHSTIRD | 1 | Rattus norvegicus | H388 | PFTIPHCTTKD | 1 | Gallus gallus | I115 | YTFTLISNGQS | 1 | Homo sapiens | I115 | YSFTLISNGQS | 1 | Macaca mulatta | I115 | YSFTLITNGKS | 1 | Mus musculus | I115 | YSFTLIANGQS | 1 | Rattus norvegicus | I115 | YSFRHITDGQS | 1 | Gallus gallus | I115 | PSWQYVSNGHS | 1 | Gallus gallus | I198 | SVANVICAICF | 5 | Macaca mulatta, Mus musculus, Rattus norvegicus, Gallus gallus, Gallus gallus | I198 | SVTNVICAICF | 1 | Homo sapiens | I386 | FVPFTIPHSTT | 3 | Homo sapiens, Macaca mulatta, Mus musculus | I386 | FVPFTIPHSTI | 1 | Rattus norvegicus | I386 | FMPFTIPHSTT | 1 | Gallus gallus | I386 | LLPFTIPHCTT | 1 | Gallus gallus | I449 | SEKVILFGLGK | 2 | Macaca mulatta, Rattus norvegicus | I449 | SEKVIIFGMGK | 1 | Homo sapiens | I449 | SEKVTLFGLGK | 1 | Mus musculus | I449 | AEKVMTFGLGK | 1 | Gallus gallus | I449 | ADKVLIFGLGK | 1 | Gallus gallus | I458 | GKRKCIGETIA | 2 | Homo sapiens, Macaca mulatta | I458 | GKRKCIGETIG | 2 | Mus musculus, Rattus norvegicus | I458 | GKRRCIGENIG | 1 | Gallus gallus | I458 | GKRRCIGESIG | 1 | Gallus gallus | L312 | IINIVLDLFGA | 1 | Homo sapiens | L312 | IVNVVLDLFGA | 1 | Macaca mulatta | L312 | VITIVLDLFGA | 1 | Mus musculus | L312 | VITIVFDLFGA | 1 | Rattus norvegicus | L312 | IINLVNDIFGA | 1 | Gallus gallus | L312 | IISIVNDLFGA | 1 | Gallus gallus | L314 | NIVLDLFGAGF | 1 | Homo sapiens | L314 | NVVLDLFGAGF | 1 | Macaca mulatta | L314 | TIVLDLFGAGF | 1 | Mus musculus | L314 | TIVFDLFGAGF | 1 | Rattus norvegicus | L314 | NLVNDIFGAGF | 1 | Gallus gallus | L314 | SIVNDLFGAGF | 1 | Gallus gallus | L496 | TPIYGLTMKHA | 2 | Homo sapiens, Macaca mulatta | L496 | TPTYGLTLKHA | 1 | Mus musculus | L496 | TPAYGLTLKHA | 1 | Rattus norvegicus | L496 | TPIYGLSMKHK | 1 | Gallus gallus | L496 | TPQYGLTMKYK | 1 | Gallus gallus | N255 | AFKDLNEKFYS | 1 | Homo sapiens | N255 | GFKDLNEKFHS | 1 | Macaca mulatta | N255 | AFKDLNDKFYS | 1 | Mus musculus | N255 | AFKDLNKKFYS | 1 | Rattus norvegicus | N255 | SFLDFNKRFMK | 1 | Gallus gallus | N255 | AFKDVNARFSA | 1 | Gallus gallus | Q411 | CVFVNQWQINH | 2 | Homo sapiens, Macaca mulatta | Q411 | CVFVNQWQVNH | 2 | Mus musculus, Rattus norvegicus | Q411 | CVFINQWQVNH | 1 | Gallus gallus | Q411 | CVFINQWQANH | 1 | Gallus gallus | R106 | DDFKGRPDLYS | 2 | Mus musculus, Rattus norvegicus | R106 | DDFKGRPDLYT | 1 | Homo sapiens | R106 | DDFKGRPNLYS | 1 | Macaca mulatta | R106 | EDFMGRPDLYS | 1 | Gallus gallus | R106 | EDFMGRPDLPS | 1 | Gallus gallus | R135 | VWAARRRLAQN | 3 | Homo sapiens, Macaca mulatta, Mus musculus | R135 | LWAARRRLAQN | 1 | Rattus norvegicus | R135 | MWKARRKLAQN | 1 | Gallus gallus | R135 | AWKARRKLAQN | 1 | Gallus gallus | R455 | FGLGKRKCIGE | 3 | Macaca mulatta, Mus musculus, Rattus norvegicus | R455 | FGLGKRRCIGE | 2 | Gallus gallus, Gallus gallus | R455 | FGMGKRKCIGE | 1 | Homo sapiens | S116 | TFTLISNGQSM | 1 | Homo sapiens | S116 | SFTLISNGQSM | 1 | Macaca mulatta | S116 | SFTLITNGKSM | 1 | Mus musculus | S116 | SFTLIANGQSM | 1 | Rattus norvegicus | S116 | SFRHITDGQSL | 1 | Gallus gallus | S116 | SWQYVSNGHSL | 1 | Gallus gallus | S122 | NGQSMSFSPDS | 1 | Homo sapiens | S122 | NGQSMSFGPDS | 1 | Macaca mulatta | S122 | NGKSMTFNPDS | 1 | Mus musculus | S122 | NGQSMTFNPDS | 1 | Rattus norvegicus | S122 | DGQSLTFSTDT | 1 | Gallus gallus | S122 | NGHSLAFSYEC | 1 | Gallus gallus | T321 | GAGFDTVTTAI | 3 | Homo sapiens, Macaca mulatta, Mus musculus | T321 | GAGFDTVTTAL | 2 | Gallus gallus, Gallus gallus | T321 | GAGFDTITTAI | 1 | Rattus norvegicus | T385 | SFVPFTIPHST | 4 | Homo sapiens, Macaca mulatta, Mus musculus, Rattus norvegicus | T385 | SFMPFTIPHST | 1 | Gallus gallus | T385 | SLLPFTIPHCT | 1 | Gallus gallus | V322 | AGFDTVTTAIS | 3 | Homo sapiens, Macaca mulatta, Mus musculus | V322 | AGFDTVTTALS | 2 | Gallus gallus, Gallus gallus | V322 | AGFDTITTAIS | 1 | Rattus norvegicus | V382 | RHSSFVPFTIP | 4 | Homo sapiens, Macaca mulatta, Mus musculus, Rattus norvegicus | V382 | RHSSFMPFTIP | 1 | Gallus gallus | V382 | RHSSLLPFTIP | 1 | Gallus gallus | W131 | DSGPVWAARRR | 3 | Homo sapiens, Macaca mulatta, Mus musculus | W131 | DSGPLWAARRR | 1 | Rattus norvegicus | W131 | DTGEMWKARRK | 1 | Gallus gallus | W131 | ECGDAWKARRK | 1 | Gallus gallus |
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