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mutLBSgeneDB |
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| Gene summary for CAPN1 |
 Gene summary |
| Basic gene Info. | Gene symbol | CAPN1 |
| Gene name | calpain 1, (mu/I) large subunit | |
| Synonyms | CANP|CANP1|CANPL1|muCANP|muCL | |
| Cytomap | UCSC genome browser: 11q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001198868.1, NM_001198869.1,NM_005186.3,NR_040008.1, | |
| Description | CANP 1calcium-activated neutral proteinase 1calpain mu-typecalpain, large polypeptide L1calpain-1 catalytic subunitcalpain-1 large subunitcell proliferation-inducing gene 30 proteincell proliferation-inducing protein 30micromolar-calpain | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 114220 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000014216 | ||
| HPRD : 00253 | ||
| Vega : OTTHUMG00000165614 | ||
| Protein | UniProt: P07384 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CAPN1 | |
| BioGPS: 823 | ||
| Pathway | NCI Pathway Interaction Database: CAPN1 | |
| KEGG: CAPN1 | ||
| REACTOME: CAPN1 | ||
| Pathway Commons: CAPN1 | ||
| Context | iHOP: CAPN1 | |
| ligand binding site mutation search in PubMed: CAPN1 | ||
| UCL Cancer Institute: CAPN1 | ||
| 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 CAPN1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D106 | I107V | GBM | 1 | E302 | T304M | 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 CAPN1 |
| 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 | D106 | I107V | -1.2319642 | E302 | T304M | -0.54047123 |
| (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 CAPN1 from PDB |
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| Differential gene expression and gene-gene network for CAPN1 |
| 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 CAPN1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0025202 | Melanoma | 1 | Biomarker |
| umls:C0027651 | Neoplasms | 1 | Therapeutic |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CAPN1 |
| 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 |
| Experimental | DB04276 | N-[N-[1-Hydroxycarboxyethyl-Carbonyl]Leucylamino-Butyl]-Guanidine | Small molecule |  |
| Experimental | DB04653 | CBZ-LEU-LEU-TYR-CH2F | Small molecule |  |
| Experimental | DB07627 | (2S)-4-METHYL-2-(3-PHENYLTHIOUREIDO)-N-((3S)-TETRAHYDRO-2-HYDROXY-3-FURANYL)PENTANAMIDE | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CAPN1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 1zcm | A | D106 | CA | CALCIUM(2+) | 2ary | A | D106 | CA | CALCIUM(2+) | 2ary | B | D106 | CA | CALCIUM(2+) | 1zcm | A | E302 | CA | CALCIUM(2+) | 2ary | A | E302 | CA | CALCIUM(2+) | 2ary | B | E302 |
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| Conservation information for LBS of CAPN1 |
| Multiple alignments for P07384 in multiple species |
| LBS | AA sequence | # species | Species | C115 | GALGDCWLLAA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D100 | PQFIVDGATRT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D106 | GATRTDICQGA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D309 | TGAWSDSSSEW | 1 | Homo sapiens | D309 | KGPWSDSSYEW | 1 | Mus musculus | D309 | KGPWSDNSYEW | 1 | Rattus norvegicus | D309 | TGAWSDGSSEW | 1 | Bos taurus | D331 | RVKMEDGEFWM | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E185 | SAQGNEFWSAL | 3 | Mus musculus, Rattus norvegicus, Bos taurus | E185 | SAEGNEFWSAL | 1 | Homo sapiens | E302 | PWGEVEWTGAW | 2 | Homo sapiens, Bos taurus | E302 | PWGEVEWKGPW | 2 | Mus musculus, Rattus norvegicus | E333 | KMEDGEFWMSF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G101 | QFIVDGATRTD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G113 | CQGALGDCWLL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G207 | YEALSGGSTSE | 2 | Homo sapiens, Bos taurus | G207 | YEALSGGCTSE | 2 | Mus musculus, Rattus norvegicus | G208 | EALSGGSTSEG | 2 | Homo sapiens, Bos taurus | G208 | EALSGGCTSEA | 2 | Mus musculus, Rattus norvegicus | G271 | KKLVKGHAYSV | 2 | Homo sapiens, Bos taurus | G271 | KNLVRGHAYSV | 2 | Mus musculus, Rattus norvegicus | H272 | KLVKGHAYSVT | 2 | Homo sapiens, Bos taurus | H272 | NLVRGHAYSVT | 2 | Mus musculus, Rattus norvegicus | M329 | QLRVKMEDGEF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Q109 | RTDICQGALGD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S206 | SYEALSGGSTS | 2 | Homo sapiens, Bos taurus | S206 | SYEALSGGCTS | 2 | Mus musculus, Rattus norvegicus | V99 | NPQFIVDGATR | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | W116 | ALGDCWLLAAI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus |
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