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mutLBSgeneDB |
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| Gene summary for AOC1 |
 Gene summary |
| Basic gene Info. | Gene symbol | AOC1 |
| Gene name | amine oxidase, copper containing 1 | |
| Synonyms | ABP|ABP1|DAO|DAO1|KAO | |
| Cytomap | UCSC genome browser: 7q36.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001091.3, NM_001272072.1, | |
| Description | amiloride binding protein 1 (amine oxidase (copper-containing))amiloride-binding protein 1amiloride-sensitive amine oxidaseamiloride-sensitive amine oxidase [copper-containing]amine oxidase copper domain-containing protein 1diamine oxidasehistaminas | |
| Modification date | 20141211 | |
| dbXrefs | MIM : 104610 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000002726 | ||
| HPRD : 00088 | ||
| Vega : OTTHUMG00000158306 | ||
| Protein | UniProt: P19801 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AOC1 | |
| BioGPS: 26 | ||
| Pathway | NCI Pathway Interaction Database: AOC1 | |
| KEGG: AOC1 | ||
| REACTOME: AOC1 | ||
| Pathway Commons: AOC1 | ||
| Context | iHOP: AOC1 | |
| ligand binding site mutation search in PubMed: AOC1 | ||
| UCL Cancer Institute: AOC1 | ||
| 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:0035874 | cellular response to copper ion starvation | 9399025 | GO:0042493 | response to drug | 8144586 | GO:0046677 | response to antibiotic | 19764817 | GO:0055114 | oxidation-reduction process | 16846222 | GO:0071280 | cellular response to copper ion | 9399025 | GO:0071420 | cellular response to histamine | 12072962 | GO:0097185 | cellular response to azide | 16846222 |
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| Ligand binding site mutations for AOC1 |
| 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 | H675 | F673L | LUAD | 1 | D519 | R517S | LUSC | 1 | D373 | V374D | LUSC | 1 | E658 | I660T | OV | 1 | E562 | S560T | OV | 1 | D186 | D186N | PRAD | 1 | H510 | N508S | SKCM | 1 | V381 | H383Y | SKCM | 1 | Y371 | T369A | STAD | 1 | F653 | L654I | 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 AOC1 |
| 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 | V381 | H383Y | 0.60691162 | F653 | L654I | -1.2948188 | D373 | V374D | -1.217918 | D519 | R517S | -1.1426956 | H510 | N508S | -1.021969 | H675 | F673L | -0.90979724 | E658 | I660T | -0.82422212 | Y371 | T369A | -0.81442136 | E562 | S560T | -0.72372098 | D186 | D186N | -0.39741118 |
| (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 AOC1 from PDB |
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| Differential gene expression and gene-gene network for AOC1 |
| 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 AOC1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0018800 | Cardiomegaly | 1 | Biomarker |
| umls:C0020538 | Hypertension | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for AOC1 |
| 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 |
| Approved | DB00594 | Amiloride | Small molecule |  |
| Experimental | DB03608 | Diminazene | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of AOC1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | BRN | DIMINAZENE | 3hig | A | D186 Y371 D373 | BRN | DIMINAZENE | 3hig | B | D186 Y371 D373 | PNT | PENTAMIDINE | 3hii | A | D186 Y371 D373 V381 | PNT | PENTAMIDINE | 3hii | B | D186 Y371 D373 V381 | CA | CALCIUM(2+) | 3hi7 | A | D519 | CA | CALCIUM(2+) | 3hi7 | B | D519 | CA | CALCIUM(2+) | 3hig | A | D519 | CA | CALCIUM(2+) | 3hig | B | D519 | CA | CALCIUM(2+) | 3hii | A | D519 | CA | CALCIUM(2+) | 3hii | B | D519 | CA | CALCIUM(2+) | 3k5t | A | D519 | CA | CALCIUM(2+) | 3mph | A | D519 | CA | CALCIUM(2+) | 3mph | B | D519 | CA | CALCIUM(2+) | 3hi7 | A | E562 F653 E658 | CA | CALCIUM(2+) | 3hi7 | B | E562 F653 E658 | CA | CALCIUM(2+) | 3hig | A | E562 F653 E658 | CA | CALCIUM(2+) | 3hig | B | E562 F653 E658 | CA | CALCIUM(2+) | 3hii | A | E562 F653 E658 | CA | CALCIUM(2+) | 3hii | B | E562 F653 E658 | CA | CALCIUM(2+) | 3k5t | A | E562 F653 E658 | CA | CALCIUM(2+) | 3mph | A | E562 F653 E658 | CA | CALCIUM(2+) | 3mph | B | E562 F653 E658 | CU | COPPER(2+) | 3hi7 | A | H510 H675 | CU | COPPER(2+) | 3hi7 | B | H510 H675 | CU | COPPER(2+) | 3hig | A | H510 H675 | CU | COPPER(2+) | 3hig | B | H510 H675 | CU | COPPER(2+) | 3hii | A | H510 H675 | CU | COPPER(2+) | 3hii | B | H510 H675 | CU | COPPER(2+) | 3k5t | A | H510 H675 | CU | COPPER(2+) | 3mph | A | H510 H675 | CU | COPPER(2+) | 3mph | B | H510 H675 |
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| Conservation information for LBS of AOC1 |
| Multiple alignments for P19801 in multiple species |
| LBS | AA sequence | # species | Species |
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