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mutLBSgeneDB |
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| Gene summary for SERPINA5 |
 Gene summary |
| Basic gene Info. | Gene symbol | SERPINA5 |
| Gene name | serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 | |
| Synonyms | PAI-3|PAI3|PCI|PCI-B|PLANH3|PROCI | |
| Cytomap | UCSC genome browser: 14q32.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000624.5, | |
| Description | acrosomal serine protease inhibitorplasma serine protease inhibitorplasminogen activator inhibitor IIIplasminogen activator inhibitor-3protein C inhibitorserine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601841 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000188488 | ||
| HPRD : 03503 | ||
| Vega : OTTHUMG00000170860 | ||
| Protein | UniProt: P05154 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SERPINA5 | |
| BioGPS: 5104 | ||
| Pathway | NCI Pathway Interaction Database: SERPINA5 | |
| KEGG: SERPINA5 | ||
| REACTOME: SERPINA5 | ||
| Pathway Commons: SERPINA5 | ||
| Context | iHOP: SERPINA5 | |
| ligand binding site mutation search in PubMed: SERPINA5 | ||
| UCL Cancer Institute: SERPINA5 | ||
| 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 SERPINA5 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | V70 | I72M | BRCA | 1 | Q298 | Q298K | COAD | 1 | M275 | Q276K | COAD | 1 | S271 | S271G | COAD | 1 | F66 | F66L | COAD | 1 | L287 | L287P | COAD | 1 | F50 | D51G | COAD | 1 | I308 | I308F | GBM | 1 | V355 | D356H | LUAD | 1 | M235 | M236K | LUAD | 1 | L287 | L287Q | LUAD | 1 | A364 | T366K | LUSC | 1 | F50 | D51H | OV | 1 | Y244 | L245V | SKCM | 1 | E239 | R238S | STAD | 1 | N249 | R248Q | STAD | 1 | A363 | A363V | STAD | 1 | F66 | F66L | UCEC | 1 | N249 | R248L | UCEC | 1 | F306 | F306L | 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 SERPINA5 |
| 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 | L287 | L287Q | -1.7989537 | L287 | L287P | -1.5931722 | N249 | R248Q | -1.120294 | M235 | M236K | -1.107122 | Y244 | L245V | -1.0929159 | F66 | F66L | -0.89548501 | I308 | I308F | -0.88472472 | F50 | D51G | -0.83923896 | S271 | S271G | -0.83230906 | A363 | A363V | -0.80623695 | F50 | D51H | -0.79337239 | V70 | I72M | -0.76366774 | F306 | F306L | -0.69474142 | Q298 | Q298K | -0.58180915 | N249 | R248L | -0.57695889 | M275 | Q276K | -0.53710876 | E239 | R238S | -0.44009466 | A364 | T366K | -0.38861321 | V355 | D356H | -0.12411957 |
| (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 SERPINA5 from PDB |
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| Differential gene expression and gene-gene network for SERPINA5 |
| 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 SERPINA5 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0236733 | Amphetamine-Related Disorders | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SERPINA5 |
| 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|investigational|withdrawn | DB00013 | Urokinase | Biotech |  |
| Approved|investigational|withdrawn | DB00055 | Drotrecogin alfa | Biotech |  |
| Investigational | DB05413 | T-1249 | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SERPINA5 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of SERPINA5 |
| Multiple alignments for P05154 in multiple species |
| LBS | AA sequence | # species | Species | A263 | PYQGNATALFI | 1 | Homo sapiens | A263 | PYQGNAIALFI | 1 | Mus musculus | A263 | PYQGNATAFFI | 1 | Bos taurus | A265 | QGNATALFILP | 1 | Homo sapiens | A265 | QGNAIALFILP | 1 | Mus musculus | A265 | QGNATAFFILP | 1 | Bos taurus | A362 | ESGTRAAAATG | 1 | Homo sapiens | A362 | ESGTTAAAITG | 1 | Mus musculus | A362 | ESGTQAAAATG | 1 | Bos taurus | A363 | SGTRAAAATGT | 1 | Homo sapiens | A363 | SGTTAAAITGA | 1 | Mus musculus | A363 | SGTQAAAATGM | 1 | Bos taurus | A364 | GTRAAAATGTI | 1 | Homo sapiens | A364 | GTTAAAITGAI | 1 | Mus musculus | A364 | GTQAAAATGMV | 1 | Bos taurus | D123 | LNQPRDGFQLS | 1 | Homo sapiens | D123 | FRQPSDGLQLS | 1 | Mus musculus | D123 | LQQPQDSLQLS | 1 | Bos taurus | D222 | GTQEQDFYVTS | 1 | Homo sapiens | D222 | NTHKMDFHVTP | 1 | Mus musculus | D222 | STHEQDFYVTP | 1 | Bos taurus | E239 | PMMSREDQYHY | 1 | Homo sapiens | E239 | PMMNREDGYSY | 1 | Mus musculus | E239 | PMMKQQDQFYY | 1 | Bos taurus | E272 | FILPSEGKMQQ | 1 | Homo sapiens | E272 | FILPSEGKMKQ | 1 | Mus musculus | E272 | FILPREGEMEQ | 1 | Bos taurus | E279 | KMQQVENGLSE | 1 | Homo sapiens | E279 | KMKQVEDGLDE | 1 | Mus musculus | E279 | EMEQVENGLKE | 1 | Bos taurus | E284 | ENGLSEKTLRK | 1 | Homo sapiens | E284 | EDGLDERTLRN | 1 | Mus musculus | E284 | ENGLKEKTLKK | 1 | Bos taurus | E300 | KKRQLELYLPK | 1 | Homo sapiens | E300 | TKRRLDLYLPK | 1 | Mus musculus | E300 | MKRRLELYLPK | 1 | Bos taurus | F125 | QPRDGFQLSLG | 1 | Homo sapiens | F125 | QPSDGLQLSLG | 1 | Mus musculus | F125 | QPQDSLQLSLG | 1 | Bos taurus | F205 | VNYIFFKAKWE | 2 | Homo sapiens, Bos taurus | F205 | VNYIFFKAKWQ | 1 | Mus musculus | F223 | TQEQDFYVTSE | 1 | Homo sapiens | F223 | THKMDFHVTPK | 1 | Mus musculus | F223 | THEQDFYVTPE | 1 | Bos taurus | F267 | NATALFILPSE | 1 | Homo sapiens | F267 | NAIALFILPSE | 1 | Mus musculus | F267 | NATAFFILPRE | 1 | Bos taurus | F306 | LYLPKFSIEGS | 2 | Homo sapiens, Bos taurus | F306 | LYLPKFSIEAT | 1 | Mus musculus | F50 | RRDFTFDLYRA | 1 | Homo sapiens | F50 | SKDFAFRLYRA | 1 | Mus musculus | F50 | SRDFVFDLYRA | 1 | Bos taurus | F66 | PSQSIFFSPVS | 1 | Homo sapiens | F66 | PGQNVFFSPLS | 1 | Mus musculus | F66 | PAQNIFFSPLS | 1 | Bos taurus | F67 | SQSIFFSPVSI | 1 | Homo sapiens | F67 | GQNVFFSPLSV | 1 | Mus musculus | F67 | AQNIFFSPLSI | 1 | Bos taurus | I203 | IMVNYIFFKAK | 1 | Homo sapiens | I203 | IVVNYIFFKAK | 1 | Mus musculus | I203 | VMVNYIFFKAK | 1 | Bos taurus | I268 | ATALFILPSEG | 1 | Homo sapiens | I268 | AIALFILPSEG | 1 | Mus musculus | I268 | ATAFFILPREG | 1 | Bos taurus | I308 | LPKFSIEGSYQ | 2 | Homo sapiens, Bos taurus | I308 | LPKFSIEATYK | 1 | Mus musculus | I65 | APSQSIFFSPV | 1 | Homo sapiens | I65 | SPGQNVFFSPL | 1 | Mus musculus | I65 | APAQNIFFSPL | 1 | Bos taurus | K181 | VAKQTKGKIVD | 3 | Homo sapiens, Mus musculus, Bos taurus | K206 | NYIFFKAKWET | 2 | Homo sapiens, Bos taurus | K206 | NYIFFKAKWQT | 1 | Mus musculus | K285 | NGLSEKTLRKW | 1 | Homo sapiens | K285 | DGLDERTLRNW | 1 | Mus musculus | K285 | NGLKEKTLKKW | 1 | Bos taurus | K289 | EKTLRKWLKMF | 1 | Homo sapiens | K289 | ERTLRNWLKMF | 1 | Mus musculus | K289 | EKTLKKWLRMP | 1 | Bos taurus | L114 | RGFQQLLQELN | 1 | Homo sapiens | L114 | KGFQQLLQRFR | 1 | Mus musculus | L114 | SASQRLLRELQ | 1 | Bos taurus | L127 | RDGFQLSLGNA | 1 | Homo sapiens | L127 | SDGLQLSLGSA | 1 | Mus musculus | L127 | QDSLQLSLGNA | 1 | Bos taurus | L266 | GNATALFILPS | 1 | Homo sapiens | L266 | GNAIALFILPS | 1 | Mus musculus | L266 | GNATAFFILPR | 1 | Bos taurus | L269 | TALFILPSEGK | 1 | Homo sapiens | L269 | IALFILPSEGK | 1 | Mus musculus | L269 | TAFFILPREGE | 1 | Bos taurus | L282 | QVENGLSEKTL | 1 | Homo sapiens | L282 | QVEDGLDERTL | 1 | Mus musculus | L282 | QVENGLKEKTL | 1 | Bos taurus | L287 | LSEKTLRKWLK | 1 | Homo sapiens | L287 | LDERTLRNWLK | 1 | Mus musculus | L287 | LKEKTLKKWLR | 1 | Bos taurus | L299 | FKKRQLELYLP | 1 | Homo sapiens | L299 | FTKRRLDLYLP | 1 | Mus musculus | L299 | PMKRRLELYLP | 1 | Bos taurus | L301 | KRQLELYLPKF | 1 | Homo sapiens | L301 | KRRLDLYLPKF | 1 | Mus musculus | L301 | KRRLELYLPKF | 1 | Bos taurus | L303 | QLELYLPKFSI | 1 | Homo sapiens | L303 | RLDLYLPKFSI | 1 | Mus musculus | L303 | RLELYLPKFSI | 1 | Bos taurus | M235 | VVRVPMMSRED | 1 | Homo sapiens | M235 | TTQVPMMNRED | 1 | Mus musculus | M235 | VVRVPMMKQQD | 1 | Bos taurus | M275 | PSEGKMQQVEN | 1 | Homo sapiens | M275 | PSEGKMKQVED | 1 | Mus musculus | M275 | PREGEMEQVEN | 1 | Bos taurus | N249 | YLLDRNLSCRV | 1 | Homo sapiens | N249 | YYLDQNISCTV | 1 | Mus musculus | N249 | YLLDRNLSCKV | 1 | Bos taurus | N262 | VPYQGNATALF | 1 | Homo sapiens | N262 | IPYQGNAIALF | 1 | Mus musculus | N262 | VPYQGNATAFF | 1 | Bos taurus | P270 | ALFILPSEGKM | 2 | Homo sapiens, Mus musculus | P270 | AFFILPREGEM | 1 | Bos taurus | P304 | LELYLPKFSIE | 2 | Homo sapiens, Bos taurus | P304 | LDLYLPKFSIE | 1 | Mus musculus | P69 | SIFFSPVSISM | 1 | Homo sapiens | P69 | NVFFSPLSVSM | 1 | Mus musculus | P69 | NIFFSPLSITV | 1 | Bos taurus | Q126 | PRDGFQLSLGN | 1 | Homo sapiens | Q126 | PSDGLQLSLGS | 1 | Mus musculus | Q126 | PQDSLQLSLGN | 1 | Bos taurus | Q221 | KGTQEQDFYVT | 1 | Homo sapiens | Q221 | TNTHKMDFHVT | 1 | Mus musculus | Q221 | KSTHEQDFYVT | 1 | Bos taurus | Q298 | MFKKRQLELYL | 1 | Homo sapiens | Q298 | MFTKRRLDLYL | 1 | Mus musculus | Q298 | MPMKRRLELYL | 1 | Bos taurus | R253 | RNLSCRVVGVP | 1 | Homo sapiens | R253 | QNISCTVVGIP | 1 | Mus musculus | R253 | RNLSCKVVGVP | 1 | Bos taurus | R297 | KMFKKRQLELY | 1 | Homo sapiens | R297 | KMFTKRRLDLY | 1 | Mus musculus | R297 | RMPMKRRLELY | 1 | Bos taurus | R361 | DESGTRAAAAT | 1 | Homo sapiens | R361 | EESGTTAAAIT | 1 | Mus musculus | R361 | DESGTQAAAAT | 1 | Bos taurus | S271 | LFILPSEGKMQ | 1 | Homo sapiens | S271 | LFILPSEGKMK | 1 | Mus musculus | S271 | FFILPREGEME | 1 | Bos taurus | S68 | QSIFFSPVSIS | 1 | Homo sapiens | S68 | QNVFFSPLSVS | 1 | Mus musculus | S68 | QNIFFSPLSIT | 1 | Bos taurus | T264 | YQGNATALFIL | 1 | Homo sapiens | T264 | YQGNAIALFIL | 1 | Mus musculus | T264 | YQGNATAFFIL | 1 | Bos taurus | T49 | SRRDFTFDLYR | 1 | Homo sapiens | T49 | SSKDFAFRLYR | 1 | Mus musculus | T49 | GSRDFVFDLYR | 1 | Bos taurus | V225 | EQDFYVTSETV | 1 | Homo sapiens | V225 | KMDFHVTPKRT | 1 | Mus musculus | V225 | EQDFYVTPETV | 1 | Bos taurus | V233 | ETVVRVPMMSR | 1 | Homo sapiens | V233 | KRTTQVPMMNR | 1 | Mus musculus | V233 | ETVVRVPMMKQ | 1 | Bos taurus | V255 | LSCRVVGVPYQ | 1 | Homo sapiens | V255 | ISCTVVGIPYQ | 1 | Mus musculus | V255 | LSCKVVGVPYQ | 1 | Bos taurus | V355 | KAVVEVDESGT | 2 | Homo sapiens, Bos taurus | V355 | KSMMEVEESGT | 1 | Mus musculus | V70 | IFFSPVSISMS | 1 | Homo sapiens | V70 | VFFSPLSVSMS | 1 | Mus musculus | V70 | IFFSPLSITVS | 1 | Bos taurus | Y224 | QEQDFYVTSET | 1 | Homo sapiens | Y224 | HKMDFHVTPKR | 1 | Mus musculus | Y224 | HEQDFYVTPET | 1 | Bos taurus | Y244 | EDQYHYLLDRN | 1 | Homo sapiens | Y244 | EDGYSYYLDQN | 1 | Mus musculus | Y244 | QDQFYYLLDRN | 1 | Bos taurus | Y259 | VVGVPYQGNAT | 2 | Homo sapiens, Bos taurus | Y259 | VVGIPYQGNAI | 1 | Mus musculus | Y302 | RQLELYLPKFS | 1 | Homo sapiens | Y302 | RRLDLYLPKFS | 1 | Mus musculus | Y302 | RRLELYLPKFS | 1 | Bos taurus | Y53 | FTFDLYRALAS | 1 | Homo sapiens | Y53 | FAFRLYRALVS | 1 | Mus musculus | Y53 | FVFDLYRALAA | 1 | Bos taurus |
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