mutLBSgeneDB |
Gene summary for FURIN |
Gene summary |
Basic gene Info. | Gene symbol | FURIN |
Gene name | furin (paired basic amino acid cleaving enzyme) | |
Synonyms | FUR|PACE|PCSK3|SPC1 | |
Cytomap | UCSC genome browser: 15q26.1 | |
Type of gene | protein-coding | |
RefGenes | NM_001289823.1, NM_001289824.1,NM_002569.3, | |
Description | FES upstream regiondibasic processing enzymefurinfurin, membrane associated receptor proteinpaired basic amino acid residue-cleaving enzymeproprotein convertase subtilisin/kexin type 3 | |
Modification date | 20141207 | |
dbXrefs | MIM : 136950 | |
HGNC : HGNC | ||
Ensembl : ENSG00000140564 | ||
HPRD : 00653 | ||
Vega : OTTHUMG00000149831 | ||
Protein | UniProt: P09958 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_FURIN | |
BioGPS: 5045 | ||
Pathway | NCI Pathway Interaction Database: FURIN | |
KEGG: FURIN | ||
REACTOME: FURIN | ||
Pathway Commons: FURIN | ||
Context | iHOP: FURIN | |
ligand binding site mutation search in PubMed: FURIN | ||
UCL Cancer Institute: FURIN | ||
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:0006465 | signal peptide processing | 16912035 | GO:0010951 | negative regulation of endopeptidase activity | 10567353 | GO:0016485 | protein processing | 10526337 | GO:0016486 | peptide hormone processing | 9242664 | GO:0032804 | negative regulation of low-density lipoprotein particle receptor catabolic process | 16912035 | GO:0032902 | nerve growth factor production | 8615794 | GO:0032904 | negative regulation of nerve growth factor production | 10567353 | GO:0032940 | secretion by cell | 8615794 | GO:0043043 | peptide biosynthetic process | 8262946 | GO:0052548 | regulation of endopeptidase activity | 14744861 |
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Ligand binding site mutations for FURIN |
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. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | H194 | G195D | COAD | 1 | D258 | G260V | COAD | 1 | A267 | R268C | COAD | 1 | V231 | E230D | LUAD | 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 FURIN |
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 |
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 | V231 | E230D | -1.7158588 | D258 | G260V | -1.1572762 | A267 | R268C | -1.1442536 | H194 | G195D | -0.62581577 |
(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 FURIN from PDB |
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Differential gene expression and gene-gene network for FURIN |
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 FURIN |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0007097 | Carcinoma | 3 | Biomarker |
umls:C0024667 | Mammary Neoplasms, Animal | 2 | Biomarker |
umls:C0024668 | Mammary Neoplasms, Experimental | 2 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for FURIN |
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. |
Gene-centered drug-gene interaction network |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Experimental | DB03600 | Decanoic Acid | Small molecule | |
Investigational | DB04951 | Pirfenidone | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of FURIN go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 4omc | A | D258 | CA | CALCIUM(2+) | 4omc | B | D258 | CA | CALCIUM(2+) | 4omc | C | D258 | CA | CALCIUM(2+) | 4omc | D | D258 | CA | CALCIUM(2+) | 4omc | E | D258 | CA | CALCIUM(2+) | 4omc | F | D258 | CA | CALCIUM(2+) | 4omd | A | D258 | CA | CALCIUM(2+) | 4omd | B | D258 | CA | CALCIUM(2+) | 4omd | C | D258 | CA | CALCIUM(2+) | 4omd | D | D258 | CA | CALCIUM(2+) | 4omd | E | D258 | CA | CALCIUM(2+) | 4omd | F | D258 | CA | CALCIUM(2+) | 4ryd | A | D258 | CA | CALCIUM(2+) | 4ryd | B | D258 | CA | CALCIUM(2+) | 4ryd | C | D258 | CA | CALCIUM(2+) | 4ryd | D | D258 | CA | CALCIUM(2+) | 4ryd | E | D258 | CA | CALCIUM(2+) | 4ryd | F | D258 | III | Peptide ligand (2UC,ARG,VAL,ARG,00S) | 4omc | A | H194 V231 D258 | III | Peptide ligand (2UC,ARG,VAL,ARG,00S) | 4omc | B | H194 V231 D258 | III | Peptide ligand (2UC,ARG,VAL,ARG,00S) | 4omc | C | H194 V231 D258 | III | Peptide ligand (2UC,ARG,VAL,ARG,00S) | 4omc | D | H194 V231 D258 | III | Peptide ligand (2UC,ARG,VAL,ARG,00S) | 4omc | E | H194 V231 D258 | III | Peptide ligand (2UC,ARG,VAL,ARG,00S) | 4omc | F | H194 V231 D258 | III | Peptide ligand (HY1,ARG,VAL,ARG,00S) | 4omd | A | H194 V231 D258 | III | Peptide ligand (HY1,ARG,VAL,ARG,00S) | 4omd | B | H194 V231 D258 | III | Peptide ligand (HY1,ARG,VAL,ARG,00S) | 4omd | C | H194 V231 D258 | III | Peptide ligand (HY1,ARG,VAL,ARG,00S) | 4omd | D | H194 V231 D258 | III | Peptide ligand (HY1,ARG,VAL,ARG,00S) | 4omd | E | H194 V231 D258 | III | Peptide ligand (HY1,ARG,VAL,ARG,00S) | 4omd | F | H194 V231 D258 | III | Peptide ligand (2UC,ARG,VAL,ARG,00S) | 4ryd | B | H194 V231 D258 | III | Peptide ligand (2UC,ARG,VAL,ARG,00S) | 4ryd | E | H194 V231 D258 | III | Peptide ligand (2UC,ARG,VAL,ARG,00S) | 4ryd | A | H194 V231 D258 A267 | III | Peptide ligand (2UC,ARG,VAL,ARG,00S) | 4ryd | C | H194 V231 D258 A267 | III | Peptide ligand (2UC,ARG,VAL,ARG,00S) | 4ryd | D | H194 V231 D258 A267 | III | Peptide ligand (2UC,ARG,VAL,ARG,00S) | 4ryd | F | H194 V231 D258 A267 |
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Conservation information for LBS of FURIN |
Multiple alignments for P09958 in multiple species |
LBS | AA sequence | # species | Species | A267 | TVDGPARLAEE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A267 | TVDGPAKLTRS | 1 | Caenorhabditis elegans | A267 | TVDGPAHLAEE | 1 | Bos taurus | A292 | SIFVWASGNGG | 5 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus | D154 | VSILDDGIEKN | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D154 | VTILDDGLERT | 1 | Caenorhabditis elegans | D174 | PGASFDVNDQD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D174 | ERASYDVNDRD | 1 | Caenorhabditis elegans | D179 | DVNDQDPDPQP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D179 | DVNDRDNDPMP | 1 | Caenorhabditis elegans | D181 | NDQDPDPQPRY | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D181 | NDRDNDPMPRY | 1 | Caenorhabditis elegans | D191 | YTQMNDNRHGT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D191 | YEFSDENRHGT | 1 | Caenorhabditis elegans | D233 | DGEVTDAVEAR | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D233 | DGDVTDAVEAA | 1 | Caenorhabditis elegans | D258 | SWGPEDDGKTV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D258 | SWGPDDDGRTV | 1 | Caenorhabditis elegans | D264 | DGKTVDGPARL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D264 | DGRTVDGPAKL | 1 | Caenorhabditis elegans | D264 | DGKTVDGPAHL | 1 | Bos taurus | D306 | DSCNCDGYTNS | 5 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus | E236 | VTDAVEARSLG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E236 | VTDAVEAASVG | 1 | Caenorhabditis elegans | G255 | YSASWGPEDDG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G255 | YSASWGPDDDG | 1 | Caenorhabditis elegans | G265 | GKTVDGPARLA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G265 | GRTVDGPAKLT | 1 | Caenorhabditis elegans | G265 | GKTVDGPAHLA | 1 | Bos taurus | G294 | FVWASGNGGRE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G294 | FVWASGNGGKD | 1 | Caenorhabditis elegans | H194 | MNDNRHGTRCA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H194 | SDENRHGTRCA | 1 | Caenorhabditis elegans | L227 | GGVRMLDGEVT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L227 | GGIRMLDGDVT | 1 | Caenorhabditis elegans | N192 | TQMNDNRHGTR | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N192 | EFSDENRHGTR | 1 | Caenorhabditis elegans | N295 | VWASGNGGREH | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N295 | VWASGNGGKDA | 1 | Caenorhabditis elegans | P256 | SASWGPEDDGK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | P256 | SASWGPDDDGR | 1 | Caenorhabditis elegans | S253 | HIYSASWGPED | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S253 | DIYSASWGPDD | 1 | Caenorhabditis elegans | S293 | IFVWASGNGGR | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S293 | IFVWASGNGGK | 1 | Caenorhabditis elegans | S368 | SHTGTSASAPL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S368 | MHTGTSASAPL | 1 | Caenorhabditis elegans | S368 | SHTGTSAFAPL | 1 | Bos taurus | T232 | LDGEVTDAVEA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T232 | LDGDVTDAVEA | 1 | Caenorhabditis elegans | T309 | NCDGYTNSIYT | 5 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus | T367 | ESHTGTSASAP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T367 | NMHTGTSASAP | 1 | Caenorhabditis elegans | T367 | ESHTGTSAFAP | 1 | Bos taurus | V231 | MLDGEVTDAVE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V231 | MLDGDVTDAVE | 1 | Caenorhabditis elegans | W254 | IYSASWGPEDD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | W254 | IYSASWGPDDD | 1 | Caenorhabditis elegans | Y308 | CNCDGYTNSIY | 5 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus, Bos taurus |
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