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mutLBSgeneDB |
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| Gene summary for ACVRL1 |
 Gene summary |
| Basic gene Info. | Gene symbol | ACVRL1 |
| Gene name | activin A receptor type II-like 1 | |
| Synonyms | ACVRLK1|ALK-1|ALK1|HHT|HHT2|ORW2|SKR3|TSR-I | |
| Cytomap | UCSC genome browser: 12q13.13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000020.2, NM_001077401.1, | |
| Description | TGF-B superfamily receptor type Iactivin A receptor, type II-like kinase 1serine/threonine-protein kinase receptor R3 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 601284 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000139567 | ||
| HPRD : 03181 | ||
| Vega : OTTHUMG00000169507 | ||
| Protein | UniProt: P37023 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ACVRL1 | |
| BioGPS: 94 | ||
| Pathway | NCI Pathway Interaction Database: ACVRL1 | |
| KEGG: ACVRL1 | ||
| REACTOME: ACVRL1 | ||
| Pathway Commons: ACVRL1 | ||
| Context | iHOP: ACVRL1 | |
| ligand binding site mutation search in PubMed: ACVRL1 | ||
| UCL Cancer Institute: ACVRL1 | ||
| Assigned class in mutLBSgeneDB | A: This gene has a literature evidence and it belongs to targetable_mutLBSgenes. | |
| References showing study about ligand binding site mutation for ACVRL1. | 1. "Alaa El Din F, Patri S, Thoreau V, Rodriguez-Ballesteros M, Hamade E, Bailly S, Gilbert-Dussardier B, Abou Merhi R, Kitzis A. Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia. PLoS One. 2015 Jul 15;10(7):e0132111. doi: 10.1371/journal.pone.0132111. eCollection 2015. PubMed PMID: 26176610; PubMedCentral PMCID: PMC4503601." 26176610 | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006468 | protein phosphorylation | 12065756 | GO:0007165 | signal transduction | 15702480 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 15702480 | GO:0010596 | negative regulation of endothelial cell migration | 17068149 | GO:0030308 | negative regulation of cell growth | 17068149 | GO:0030513 | positive regulation of BMP signaling pathway | 17068149 | GO:0032924 | activin receptor signaling pathway | 8242742 | GO:0045893 | positive regulation of transcription, DNA-templated | 12393874 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 19366699 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 19494318 |
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| Ligand binding site mutations for ACVRL1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | T277 | T277M | COAD | 2 | R334 | K332N | LUAD | 1 | D348 | G350S | SKCM | 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. |
| Clinical information for ACVRL1 from My Cancer Genome. |
| Activin A receptor type II-like 1 (ACVRL1) is a gene that encodes a protein that functions as a type I cell-surface receptor for the TGF-beta superfamily of ligands. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer. Modified: July 1, 2015 |
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| Protein structure related information for ACVRL1 |
| 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 | R334 | K332N | -1.0439374 | D348 | G350S | -0.98571451 | T277 | T277M | -0.46198168 |
| (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 ACVRL1 from PDB |
| PDB ID | PDB title | PDB structure | 3MYO | Crystal structure of the ACVRL1 (ALK1) kinase domain bound to LDN-193189 |  |
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| Differential gene expression and gene-gene network for ACVRL1 |
| 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 ACVRL1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0039445 | Telangiectasia, Hereditary Hemorrhagic | 60 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C1838163 | Osler-rendu-weber syndrome 2 | 10 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ACVRL1 |
| 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|nutraceutical | DB00171 | Adenosine triphosphate | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ACVRL1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | X | R334 D348 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | M | T277 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | U | T277 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | R | T277 D348 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | A | T277 R334 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | C | T277 R334 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | D | T277 R334 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | E | T277 R334 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | G | T277 R334 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | H | T277 R334 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | J | T277 R334 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | L | T277 R334 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | N | T277 R334 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | Q | T277 R334 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | T | T277 R334 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | V | T277 R334 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | B | T277 R334 D348 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | F | T277 R334 D348 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | I | T277 R334 D348 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | K | T277 R334 D348 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | O | T277 R334 D348 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | P | T277 R334 D348 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | S | T277 R334 D348 | LDN | 4-[6-(4-PIPERAZIN-1-YLPHENYL)PYRAZOLO[1,5-A]PYRIMIDIN-3-YL]QUINOLINE | 3my0 | W | T277 R334 D348 |
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| Conservation information for LBS of ACVRL1 |
| Multiple alignments for P37023 in multiple species |
| LBS | AA sequence | # species | Species |
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