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mutLBSgeneDB |
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| Gene summary for MR1 |
 Gene summary |
| Basic gene Info. | Gene symbol | MR1 |
| Gene name | major histocompatibility complex, class I-related | |
| Synonyms | HLALS | |
| Cytomap | UCSC genome browser: 1q25.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001194999.1, NM_001195000.1,NM_001195035.1,NM_001531.2, | |
| Description | MHC class I-like antigen MR-1MHC class I-related gene proteinMHC class-I related-gene proteinclass I histocompatibility antigen-like proteinmajor histocompatibility complex class I-related gene proteinmajor histocompatibility complex, class I-like se | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600764 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000153029 | ||
| HPRD : 09012 | ||
| Vega : OTTHUMG00000035175 | ||
| Protein | UniProt: Q95460 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MR1 | |
| BioGPS: 3140 | ||
| Pathway | NCI Pathway Interaction Database: MR1 | |
| KEGG: MR1 | ||
| REACTOME: MR1 | ||
| Pathway Commons: MR1 | ||
| Context | iHOP: MR1 | |
| ligand binding site mutation search in PubMed: MR1 | ||
| UCL Cancer Institute: MR1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to 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 MR1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S46 | S46L | COAD | 5 | S46 | S46L | UCEC | 2 | R31 | R31C | LUAD | 1 | S46 | S46L | SKCM | 1 | K65 | R63W | SKCM | 1 | W91 | Q92R | STAD | 1 | R31 | R31C | 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 MR1 |
| 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 | W91 | Q92R | 0.18537245 | R31 | R31C | -1.2515359 | K65 | R63W | -0.58898677 | S46 | S46L | -0.52928378 |
| (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 MR1 from PDB |
| PDB ID | PDB title | PDB structure | 4GUP | Structure of MHC-class I related molecule MR1 |  |
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| Differential gene expression and gene-gene network for MR1 |
| 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 MR1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for MR1 |
| 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 | DB00098 | Anti-thymocyte Globulin (Rabbit) | Biotech |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of MR1 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 MR1 |
| Multiple alignments for Q95460 in multiple species |
| LBS | AA sequence | # species | Species | H80 | NLAPDHWERYT | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Pan troglodytes | I118 | TYQRMIGCELL | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Pan troglodytes | K65 | SVTRQKEPRAP | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | K65 | SVTRQKEPKAP | 1 | Mus musculus | K65 | SVSQLKEPRAL | 1 | Bos taurus | L88 | RYTQLLRGWQQ | 4 | Homo sapiens, Mus musculus, Bos taurus, Pan troglodytes | L88 | RYTQLLRGWQR | 1 | Rattus norvegicus | Q175 | HELQYQKNWLE | 3 | Mus musculus, Rattus norvegicus, Bos taurus | Q175 | HELLYQKNWLE | 2 | Homo sapiens, Pan troglodytes | R116 | SHTYQRMIGCE | 2 | Homo sapiens, Pan troglodytes | R116 | LHTYQRMIGCE | 2 | Mus musculus, Rattus norvegicus | R116 | FHTYQRMIGCE | 1 | Bos taurus | R31 | SLRYFRLGVSD | 2 | Homo sapiens, Pan troglodytes | R31 | SLRYFRLAVSD | 1 | Mus musculus | R31 | SLRYFRLAISD | 1 | Rattus norvegicus | R31 | SLRYFRLGISE | 1 | Bos taurus | S46 | VPEFISVGYVD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes | S46 | IPEFISAGYVD | 1 | Bos taurus | W178 | QYQKNWLEEEC | 3 | Mus musculus, Rattus norvegicus, Bos taurus | W178 | LYQKNWLEEEC | 2 | Homo sapiens, Pan troglodytes | W91 | QLLRGWQQMFK | 2 | Homo sapiens, Pan troglodytes | W91 | QLLRGWQQTFK | 1 | Mus musculus | W91 | QLLRGWQRTFQ | 1 | Rattus norvegicus | W91 | QLLRGWQQAFK | 1 | Bos taurus | Y174 | QHELLYQKNWL | 2 | Homo sapiens, Pan troglodytes | Y174 | LHELQYQKNWL | 2 | Mus musculus, Rattus norvegicus | Y174 | RHELQYQKNWL | 1 | Bos taurus | Y29 | THSLRYFRLGV | 2 | Homo sapiens, Pan troglodytes | Y29 | THSLRYFRLAV | 1 | Mus musculus | Y29 | THSLRYFRLAI | 1 | Rattus norvegicus | Y29 | THSLRYFRLGI | 1 | Bos taurus | Y84 | DHWERYTQLLR | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Pan troglodytes |
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