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mutLBSgeneDB |
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| Gene summary for KLKB1 |
 Gene summary |
| Basic gene Info. | Gene symbol | KLKB1 |
| Gene name | kallikrein B, plasma (Fletcher factor) 1 | |
| Synonyms | KLK3|PPK | |
| Cytomap | UCSC genome browser: 4q35 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000892.3, | |
| Description | Fletcher factorkininogeninplasma kallikreinplasma kallikrein heavy chainplasma kallikrein light chainplasma prekallikrein | |
| Modification date | 20141211 | |
| dbXrefs | MIM : 229000 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000164344 | ||
| HPRD : 01971 | ||
| Vega : OTTHUMG00000150347 | ||
| Protein | UniProt: P03952 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_KLKB1 | |
| BioGPS: 3818 | ||
| Pathway | NCI Pathway Interaction Database: KLKB1 | |
| KEGG: KLKB1 | ||
| REACTOME: KLKB1 | ||
| Pathway Commons: KLKB1 | ||
| Context | iHOP: KLKB1 | |
| ligand binding site mutation search in PubMed: KLKB1 | ||
| UCL Cancer Institute: KLKB1 | ||
| 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 | GO:0031639 | plasminogen activation | 89876 | GO:0051919 | positive regulation of fibrinolysis | 89876 |
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| Ligand binding site mutations for KLKB1 |
| 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 | T596 | I595N | SKCM | 1 | S578 | S578A | 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 KLKB1 |
| 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 | T596 | I595N | -1.5515711 | S578 | S578A | -0.54994284 |
| (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 KLKB1 from PDB |
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| Differential gene expression and gene-gene network for KLKB1 |
| 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 KLKB1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0272339 | Prekallikrein Deficiency | 5 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for KLKB1 |
| 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 | DB05311 | Ecallantide | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of KLKB1 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 KLKB1 |
| Multiple alignments for P03952 in multiple species |
| LBS | AA sequence | # species | Species | A573 | EGGKDACKGDS | 2 | Homo sapiens, Bos taurus | A573 | EGGTDACKGDS | 1 | Mus musculus | C574 | GGKDACKGDSG | 2 | Homo sapiens, Bos taurus | C574 | GGTDACKGDSG | 1 | Mus musculus | D437 | AAHCFDGLPLQ | 1 | Homo sapiens | D437 | AAHCFDGIPYP | 1 | Mus musculus | D437 | AAHCFDGLLLS | 1 | Bos taurus | D572 | KEGGKDACKGD | 2 | Homo sapiens, Bos taurus | D572 | KEGGTDACKGD | 1 | Mus musculus | E479 | NYKVSEGNHDI | 1 | Homo sapiens | E479 | EYKVSEGNYDI | 1 | Mus musculus | E479 | NYKISEGSHDI | 1 | Bos taurus | E600 | ITSWGEGCARR | 2 | Homo sapiens, Bos taurus | E600 | ITSWGEGCARK | 1 | Mus musculus | G480 | YKVSEGNHDIA | 1 | Homo sapiens | G480 | YKVSEGNYDIA | 1 | Mus musculus | G480 | YKISEGSHDIA | 1 | Bos taurus | G576 | KDACKGDSGGP | 2 | Homo sapiens, Bos taurus | G576 | TDACKGDSGGP | 1 | Mus musculus | G599 | GITSWGEGCAR | 3 | Homo sapiens, Mus musculus, Bos taurus | G601 | TSWGEGCARRE | 2 | Homo sapiens, Bos taurus | G601 | TSWGEGCARKD | 1 | Mus musculus | G609 | RREQPGVYTKV | 2 | Homo sapiens, Bos taurus | G609 | RKDQPGVYTKV | 1 | Mus musculus | H417 | LTAQRHLCGGS | 1 | Homo sapiens | H417 | LVSQTHLCGGS | 1 | Mus musculus | H417 | QRAQSHLCGGS | 1 | Bos taurus | H434 | VLTAAHCFDGL | 2 | Homo sapiens, Bos taurus | H434 | VLTAAHCFDGI | 1 | Mus musculus | K575 | GKDACKGDSGG | 2 | Homo sapiens, Bos taurus | K575 | GTDACKGDSGG | 1 | Mus musculus | L418 | TAQRHLCGGSL | 1 | Homo sapiens | L418 | VSQTHLCGGSI | 1 | Mus musculus | L418 | RAQSHLCGGSI | 1 | Bos taurus | R416 | KLTAQRHLCGG | 1 | Homo sapiens | R416 | KLVSQTHLCGG | 1 | Mus musculus | R416 | KQRAQSHLCGG | 1 | Bos taurus | S478 | QNYKVSEGNHD | 1 | Homo sapiens | S478 | QEYKVSEGNYD | 1 | Mus musculus | S478 | PNYKISEGSHD | 1 | Bos taurus | S578 | ACKGDSGGPLV | 3 | Homo sapiens, Mus musculus, Bos taurus | S597 | LVGITSWGEGC | 3 | Homo sapiens, Mus musculus, Bos taurus | T596 | RLVGITSWGEG | 1 | Homo sapiens | T596 | QLVGITSWGEG | 1 | Mus musculus | T596 | HLVGITSWGEG | 1 | Bos taurus | V477 | HQNYKVSEGNH | 1 | Homo sapiens | V477 | HQEYKVSEGNY | 1 | Mus musculus | V477 | HPNYKISEGSH | 1 | Bos taurus | W598 | VGITSWGEGCA | 3 | Homo sapiens, Mus musculus, Bos taurus | Y555 | KRYQDYKITQR | 1 | Homo sapiens | Y555 | KKYRDYVINKQ | 1 | Mus musculus | Y555 | KSYRDYKITKQ | 1 | Bos taurus |
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