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mutLBSgeneDB |
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| Gene summary for ALOX5AP |
 Gene summary |
| Basic gene Info. | Gene symbol | ALOX5AP |
| Gene name | arachidonate 5-lipoxygenase-activating protein | |
| Synonyms | FLAP | |
| Cytomap | UCSC genome browser: 13q12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001204406.1, NM_001629.3, | |
| Description | MK-886-binding protein | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 603700 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000132965 | ||
| HPRD : 04742 | ||
| Vega : OTTHUMG00000016677 | ||
| Protein | UniProt: P20292 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ALOX5AP | |
| BioGPS: 241 | ||
| Pathway | NCI Pathway Interaction Database: ALOX5AP | |
| KEGG: ALOX5AP | ||
| REACTOME: ALOX5AP | ||
| Pathway Commons: ALOX5AP | ||
| Context | iHOP: ALOX5AP | |
| ligand binding site mutation search in PubMed: ALOX5AP | ||
| UCL Cancer Institute: ALOX5AP | ||
| 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:0019370 | leukotriene biosynthetic process | 2300173 | GO:0071277 | cellular response to calcium ion | 2300173 |
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| Ligand binding site mutations for ALOX5AP |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Y112 | T112I | OV | 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 ALOX5AP |
| 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 |
| (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 ALOX5AP from PDB |
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| Differential gene expression and gene-gene network for ALOX5AP |
| 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 ALOX5AP |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0004153 | Atherosclerosis | 10 | Biomarker, GeneticVariation |
| umls:C0007785 | Cerebral Infarction | 5 | Biomarker |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| umls:C0023895 | Liver Diseases | 1 | Biomarker |
| umls:C0235032 | Neurotoxicity Syndromes | 1 | Biomarker |
| umls:C0033687 | Proteinuria | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ALOX5AP |
| 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 | DB04929 | DG031 | Small molecule |  |
| Investigational | DB05225 | AM103 | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ALOX5AP go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 2CS | 3-[3-(TERT-BUTYLTHIO)-1-(4-CHLOROBENZYL)-5-(QUINOLIN-2-YLMETHOXY)-1H-INDOL-2-YL]-2,2-DIMETHYLPROPANOIC ACID | 2q7m | A | Y112 | 3CS | 3-[3-(3,3-DIMETHYLBUTANOYL)-1-(4-IODOBENZYL)-5-(QUINOLIN-2-YLMETHOXY)-1H-INDOL-2-YL]-2,2-DIMETHYLPROPANOIC ACID | 2q7r | E | Y112 |
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| Conservation information for LBS of ALOX5AP |
| Multiple alignments for P20292 in multiple species |
| LBS | AA sequence | # species | Species | A27 | QNGFFAHKVEH | 2 | Homo sapiens, Bos taurus | A27 | QNAFFAHKVEH | 1 | Mus musculus | A27 | QNAFFAHKVEL | 1 | Rattus norvegicus | A63 | QNCVDAYPTFL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D62 | NQNCVDAYPTF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F114 | TPGYIFGKRII | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F123 | IILFLFLMSVA | 1 | Homo sapiens | F123 | IILFLFAMSLA | 1 | Bos taurus | F123 | IILFLFLMSFA | 1 | Mus musculus | F123 | IILFLFLMSLA | 1 | Rattus norvegicus | F25 | VVQNGFFAHKV | 2 | Homo sapiens, Bos taurus | F25 | VVQNAFFAHKV | 2 | Mus musculus, Rattus norvegicus | G24 | SVVQNGFFAHK | 2 | Homo sapiens, Bos taurus | G24 | SVVQNAFFAHK | 2 | Mus musculus, Rattus norvegicus | H28 | NGFFAHKVEHE | 2 | Homo sapiens, Bos taurus | H28 | NAFFAHKVEHE | 1 | Mus musculus | H28 | NAFFAHKVELE | 1 | Rattus norvegicus | I113 | STPGYIFGKRI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I119 | FGKRIILFLFL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I119 | FGKRIILFLFA | 1 | Bos taurus | K116 | GYIFGKRIILF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L120 | GKRIILFLFLM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L120 | GKRIILFLFAM | 1 | Bos taurus | N23 | ISVVQNGFFAH | 2 | Homo sapiens, Bos taurus | N23 | ISVVQNAFFAH | 2 | Mus musculus, Rattus norvegicus | N57 | RVYTANQNCVD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | T66 | VDAYPTFLVVL | 2 | Mus musculus, Rattus norvegicus | T66 | VDAYPTFLAVL | 1 | Homo sapiens | T66 | VDAYPTFLVML | 1 | Bos taurus | V20 | VTLISVVQNGF | 2 | Homo sapiens, Bos taurus | V20 | VTLISVVQNAF | 2 | Mus musculus, Rattus norvegicus | V21 | TLISVVQNGFF | 2 | Homo sapiens, Bos taurus | V21 | TLISVVQNAFF | 2 | Mus musculus, Rattus norvegicus | V61 | ANQNCVDAYPT | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y112 | QSTPGYIFGKR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus |
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