mutLBSgeneDB |
Gene summary for ADAMTS1 |
Gene summary |
Basic gene Info. | Gene symbol | ADAMTS1 |
Gene name | ADAM metallopeptidase with thrombospondin type 1 motif, 1 | |
Synonyms | C3-C5|METH1 | |
Cytomap | UCSC genome browser: 21q21.2 | |
Type of gene | protein-coding | |
RefGenes | NM_006988.3, | |
Description | A disintegrin and metalloproteinase with thrombospondin motifs 1ADAM-TS 1ADAM-TS1ADAMTS-1METH-1a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1human metalloproteinase with thrombospondin type 1 motifs | |
Modification date | 20141207 | |
dbXrefs | MIM : 605174 | |
HGNC : HGNC | ||
Ensembl : ENSG00000154734 | ||
HPRD : 05530 | ||
Vega : OTTHUMG00000078688 | ||
Protein | UniProt: Q9UHI8 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ADAMTS1 | |
BioGPS: 9510 | ||
Pathway | NCI Pathway Interaction Database: ADAMTS1 | |
KEGG: ADAMTS1 | ||
REACTOME: ADAMTS1 | ||
Pathway Commons: ADAMTS1 | ||
Context | iHOP: ADAMTS1 | |
ligand binding site mutation search in PubMed: ADAMTS1 | ||
UCL Cancer Institute: ADAMTS1 | ||
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 ADAMTS1 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | N542 | C540F | LUAD | 1 | F526 | P527A | LUAD | 1 | V375 | T377N | LUAD | 1 | F526,D530 | W528S | OV | 1 | N542 | C540Y | STAD | 1 | L519 | C521Y | STAD | 1 | A431 | A431S | STAD | 1 | F526 | P527L | UCEC | 1 | H439 | S440R | 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 ADAMTS1 |
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 | F526 | P527A | -1.6333563 | V375 | T377N | -1.4723239 | F526 | P527L | -1.0196003 | A431 | A431S | -0.77826445 | N542 | C540Y | -0.76698499 | N542 | C540F | -0.71177756 | L519 | C521Y | -0.71069604 | F526 | W528S | -0.6721413 | D530 | W528S | -0.6721413 | H439 | S440R | -0.57797741 |
(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 ADAMTS1 from PDB |
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Differential gene expression and gene-gene network for ADAMTS1 |
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 ADAMTS1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C2239176 | Carcinoma, Hepatocellular | 3 | Biomarker |
umls:C1458155 | Breast Neoplasms | 2 | Biomarker |
umls:C0007131 | Carcinoma, Non-Small-Cell Lung | 2 | Biomarker |
umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
umls:C0027626 | Neoplasm Invasiveness | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for ADAMTS1 |
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. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of ADAMTS1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 097 | MARIMASTAT | 2jih | A | A431 | 097 | MARIMASTAT | 2jih | B | A431 | MG | MAGNESIUM(2+) | 2jih | B | H439 D530 N542 | MG | MAGNESIUM(2+) | 2v4b | A | H439 D530 N542 | MG | MAGNESIUM(2+) | 2v4b | B | H439 D530 N542 | MG | MAGNESIUM(2+) | 2jih | A | L519 |
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Conservation information for LBS of ADAMTS1 |
Multiple alignments for Q9UHI8 in multiple species |
LBS | AA sequence | # species | Species |
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