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mutLBSgeneDB |
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| Gene summary for KLK1 |
 Gene summary |
| Basic gene Info. | Gene symbol | KLK1 |
| Gene name | kallikrein 1 | |
| Synonyms | KLKR|Klk6|hK1 | |
| Cytomap | UCSC genome browser: 19q13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002257.3, | |
| Description | glandular kallikrein 1kallikrein 1, renal/pancreas/salivarykallikrein serine protease 1kallikrein-1kidney/pancreas/salivary gland kallikreintissue kallikrein | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 147910 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000167748 | ||
| HPRD : 01003 | ||
| Vega : OTTHUMG00000182876 | ||
| Protein | UniProt: P06870 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_KLK1 | |
| BioGPS: 3816 | ||
| Pathway | NCI Pathway Interaction Database: KLK1 | |
| KEGG: KLK1 | ||
| REACTOME: KLK1 | ||
| Pathway Commons: KLK1 | ||
| Context | iHOP: KLK1 | |
| ligand binding site mutation search in PubMed: KLK1 | ||
| UCL Cancer Institute: KLK1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_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 KLK1 |
| 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 | K186 | K187Q | COAD | 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 KLK1 |
| 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 | K186 | K187Q | -0.48998754 |
| (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 KLK1 from PDB |
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| Differential gene expression and gene-gene network for KLK1 |
| 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 KLK1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0020538 | Hypertension | 20 | Biomarker, GeneticVariation, Therapeutic |
| umls:C0027051 | Myocardial Infarction | 6 | Biomarker, Therapeutic |
| umls:C0853897 | Diabetic Cardiomyopathies | 2 | Biomarker, Therapeutic |
| umls:C0011881 | Diabetic Nephropathies | 2 | Biomarker, Therapeutic |
| umls:C2609414 | Acute Kidney Injury | 1 | Therapeutic |
| umls:C0016059 | Fibrosis | 1 | Therapeutic |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for KLK1 |
| 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|withdrawn | DB06692 | Aprotinin | Biotech |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of KLK1 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 KLK1 |
| Multiple alignments for P06870 in multiple species |
| LBS | AA sequence | # species | Species | H189 | KCIEAYEQKVT | 2 | Rattus norvegicus, Rattus norvegicus | H189 | ECKKAHVQKVT | 1 | Homo sapiens | H189 | KCIETYKDNVT | 1 | Rattus norvegicus | H189 | KCIETYKNIET | 1 | Rattus norvegicus | H189 | KCIKAHTQMVT | 1 | Rattus norvegicus | H189 | KCIKAYKEKVT | 1 | Rattus norvegicus | H189 | KCVEAHKEEVT | 1 | Rattus norvegicus | H189 | KCIKAYNDEVT | 1 | Rattus norvegicus | K186 | SNEKCIEAYEQ | 2 | Rattus norvegicus, Rattus norvegicus | K186 | PNDECKKAHVQ | 1 | Homo sapiens | K186 | SNEKCIETYKD | 1 | Rattus norvegicus | K186 | SNEKCIETYKN | 1 | Rattus norvegicus | K186 | SNEKCIKAHTQ | 1 | Rattus norvegicus | K186 | SNEKCIKAYKE | 1 | Rattus norvegicus | K186 | SNEKCVEAHKE | 1 | Rattus norvegicus | K186 | SNEKCIKAYND | 1 | Rattus norvegicus | V190 | CIEAYEQKVTD | 2 | Rattus norvegicus, Rattus norvegicus | V190 | CKKAHVQKVTD | 1 | Homo sapiens | V190 | CIETYKDNVTD | 1 | Rattus norvegicus | V190 | CIETYKNIETD | 1 | Rattus norvegicus | V190 | CIKAHTQMVTD | 1 | Rattus norvegicus | V190 | CIKAYKEKVTD | 1 | Rattus norvegicus | V190 | CVEAHKEEVTD | 1 | Rattus norvegicus | V190 | CIKAYNDEVTD | 1 | Rattus norvegicus |
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