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mutLBSgeneDB |
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| Gene summary for AKR1C1 |
 Gene summary |
| Basic gene Info. | Gene symbol | AKR1C1 |
| Gene name | aldo-keto reductase family 1, member C1 | |
| Synonyms | 2-ALPHA-HSD|20-ALPHA-HSD|C9|DD1|DD1/DD2|DDH|DDH1|H-37|HAKRC|HBAB|MBAB | |
| Cytomap | UCSC genome browser: 10p15-p14 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001353.5, | |
| Description | 20 alpha-hydroxysteroid dehydrogenase20-alpha-hydroxysteroid dehydrogenasealdo-keto reductase Caldo-keto reductase family 1 member C1chlordecone reductase homolog HAKRCdihydrodiol dehydrogenase 1dihydrodiol dehydrogenase 1/2dihydrodiol dehydrogenas | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600449 | |
| HGNC : HGNC | ||
| HPRD : 07194 | ||
| Protein | UniProt: Q04828 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AKR1C1 | |
| BioGPS: 1645 | ||
| Pathway | NCI Pathway Interaction Database: AKR1C1 | |
| KEGG: AKR1C1 | ||
| REACTOME: AKR1C1 | ||
| Pathway Commons: AKR1C1 | ||
| Context | iHOP: AKR1C1 | |
| ligand binding site mutation search in PubMed: AKR1C1 | ||
| UCL Cancer Institute: AKR1C1 | ||
| 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:0007586 | digestion | 8486699 | GO:0008206 | bile acid metabolic process | 8486699 | GO:0030855 | epithelial cell differentiation | 21492153 | GO:0042448 | progesterone metabolic process | 21232532 | GO:0042574 | retinal metabolic process | 21851338 | GO:0051260 | protein homooligomerization | 8486699 | GO:0055114 | oxidation-reduction process | 19442656 | GO:0071395 | cellular response to jasmonic acid stimulus | 19487289 |
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| Ligand binding site mutations for AKR1C1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | V128 | V128M | BRCA | 1 | N273 | E274K | BRCA | 1 | S166 | G164W | KIRC | 1 | Y216 | Y216C | LUAD | 1 | G22 | G22A | OV | 1 | H248 | R250Q | SKCM | 1 | S166 | V165M | STAD | 1 | Q279 | R278T | STAD | 1 | D50 | I49V | STAD | 1 | H248 | R250Q | 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 AKR1C1 |
| 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 | Q279 | R278T | -1.3806264 | S166 | V165M | -1.1033515 | D50 | I49V | -0.88324466 | H248 | R250Q | -0.84483387 | Y216 | Y216C | -0.79882108 | S166 | G164W | -0.73923619 | V128 | V128M | -0.72119452 | N273 | E274K | -0.69475951 | G22 | G22A | -0.11138243 |
| (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 AKR1C1 from PDB |
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| Differential gene expression and gene-gene network for AKR1C1 |
| 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 AKR1C1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0014175 | Endometriosis | 2 | Biomarker |
| umls:C0014170 | Endometrial Neoplasms | 1 | AlteredExpression, Biomarker |
| umls:C0007131 | Carcinoma, Non-Small-Cell Lung | 1 | Biomarker |
| umls:C0007621 | Cell Transformation, Neoplastic | 1 | Biomarker |
| umls:C0029408 | Osteoarthritis | 1 | Biomarker |
| umls:C0032460 | Polycystic Ovary Syndrome | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for AKR1C1 |
| 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 |
| Nutraceutical | DB00157 | NADH | Small molecule |  |
| Approved|vet_approved | DB00936 | Salicylic acid | Small molecule |  |
| Approved|vet_approved | DB00945 | Acetylsalicylic acid | Small molecule |  |
| Experimental | DB03461 | 2'-Monophosphoadenosine 5'-Diphosphoribose | Small molecule |  |
| Experimental | DB04674 | 2-HYDROXY-3,5-DIIODOBENZOIC ACID | Small molecule |  |
| Experimental | DB07768 | (10ALPHA,13ALPHA,14BETA,17ALPHA)-17-HYDROXYANDROST-4-EN-3-ONE | Small molecule |  |
| Withdrawn | DB07931 | Hexestrol | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of AKR1C1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NAP | NADP ZWITTERION | 3gug | A | G22 D50 S166 Y216 N273 Q279 | NAP | NADP ZWITTERION | 4yvp | A | G22 D50 S166 Y216 N273 Q279 | NAP | NADP ZWITTERION | 1mrq | A | G22 D50 S166 Y216 Q279 | NAP | NADP ZWITTERION | 3c3u | A | G22 D50 S166 Y216 Q279 | NAP | NADP ZWITTERION | 3nty | A | G22 D50 S166 Y216 Q279 | NAP | NADP ZWITTERION | 4yvp | B | G22 D50 S166 Y216 Q279 | ZN | ZINC(2+) | 3gug | A | H248 | ZN | ZINC(2+) | 3nty | A | H248 | STR | PROGESTERONE | 1mrq | A | V128 | GBM | GLIBENCLAMIDE | 5-CHLORO-N-(2-{4-[(CYCLOHEXYLCARBAMOYL) SULFAMOYL]PHENYL}ETHYL)-2-METHOXYBENZAMIDE | 4yvp | B | V128 |
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| Conservation information for LBS of AKR1C1 |
| Multiple alignments for Q04828 in multiple species |
| LBS | AA sequence | # species | Species |
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