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mutLBSgeneDB |
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| Gene summary for ADH1A |
 Gene summary |
| Basic gene Info. | Gene symbol | ADH1A |
| Gene name | alcohol dehydrogenase 1A (class I), alpha polypeptide | |
| Synonyms | ADH1 | |
| Cytomap | UCSC genome browser: 4q23 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000667.3, | |
| Description | ADH, alpha subunitalcohol dehydrogenase 1 (class I), alpha polypeptidealcohol dehydrogenase 1Aalcohol dehydrogenase subunit alphaaldehyde reductase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 103700 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000187758 | ||
| HPRD : 00063 | ||
| Vega : OTTHUMG00000131026 | ||
| Protein | UniProt: P07327 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ADH1A | |
| BioGPS: 124 | ||
| Pathway | NCI Pathway Interaction Database: ADH1A | |
| KEGG: ADH1A | ||
| REACTOME: ADH1A | ||
| Pathway Commons: ADH1A | ||
| Context | iHOP: ADH1A | |
| ligand binding site mutation search in PubMed: ADH1A | ||
| UCL Cancer Institute: ADH1A | ||
| 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 |
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| Ligand binding site mutations for ADH1A |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L363 | D361H | BLCA | 1 | T179 | G180R | BRCA | 1 | H52 | V53M | COAD | 1 | A318 | K316N | LUAD | 1 | T49 | T49K | LUAD | 1 | H52 | H52N | LUAD | 1 | L320 | L320F | SKCM | 1 | H68 | H68Y | SKCM | 1 | C47 | G45E | SKCM | 1 | G202 | G202R | SKCM | 1 | D224 | A222V | 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 ADH1A |
| 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 | G202 | G202R | 0.084222635 | L363 | D361H | 0.070168643 | H52 | H52N | -1.4140482 | T49 | T49K | -0.97129422 | T179 | G180R | -0.970692 | A318 | K316N | -0.95560395 | L320 | L320F | -0.8610809 | D224 | A222V | -0.85579237 | H52 | V53M | -0.79727059 | C47 | G45E | -0.27551902 | H68 | H68Y | -0.22806749 |
| (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 ADH1A from PDB |
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| Differential gene expression and gene-gene network for ADH1A |
| 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 ADH1A |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ADH1A |
| 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 | DB01213 | Fomepizole | Small molecule |  |
| Experimental | DB02721 | 4-Iodopyrazole | Small molecule |  |
| Experimental | DB04065 | N-Cyclopentyl-N-Cyclobutylformamide | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ADH1A go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NAD | NAD ZWITTERION | 1hso | A | G202 | NAD | NAD ZWITTERION | 1hso | B | G202 | NAD | NAD ZWITTERION | 1u3t | A | G202 | NAD | NAD ZWITTERION | 1u3t | B | G202 |
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| Conservation information for LBS of ADH1A |
| Multiple alignments for P07327 in multiple species |
| LBS | AA sequence | # species | Species |
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