mutLBSgeneDB |
Gene summary for HARS |
Gene summary |
Basic gene Info. | Gene symbol | HARS |
Gene name | histidyl-tRNA synthetase | |
Synonyms | HRS|USH3B | |
Cytomap | UCSC genome browser: 5q31.3 | |
Type of gene | protein-coding | |
RefGenes | NM_001258040.2, NM_001258041.2,NM_001258042.2,NM_001289092.1,NM_001289093.1, NM_001289094.1,NM_002109.5, | |
Description | HisRShistidine translasehistidine--tRNA ligase, cytoplasmic | |
Modification date | 20141207 | |
dbXrefs | MIM : 142810 | |
HGNC : HGNC | ||
Ensembl : ENSG00000170445 | ||
HPRD : 00827 | ||
Vega : OTTHUMG00000129502 | ||
Protein | UniProt: P12081 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_HARS | |
BioGPS: 3035 | ||
Pathway | NCI Pathway Interaction Database: HARS | |
KEGG: HARS | ||
REACTOME: HARS | ||
Pathway Commons: HARS | ||
Context | iHOP: HARS | |
ligand binding site mutation search in PubMed: HARS | ||
UCL Cancer Institute: HARS | ||
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 HARS |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | Y363 | R362G | SKCM | 1 | D130 | D130G | STAD | 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 HARS |
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 | D130 | D130G | -1.3548064 | Y363 | R362G | -1.080917 |
(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 HARS from PDB |
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Differential gene expression and gene-gene network for HARS |
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 HARS |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C3281066 | USHER SYNDROME, TYPE IIIB | 1 | GeneticVariation |
umls:C0007134 | Carcinoma, Renal Cell | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for HARS |
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 |
Approved|nutraceutical | DB00117 | L-Histidine | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of HARS go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | HIS | L-HISTIDINE | 4phc | A | D130 Y363 | HIS | L-HISTIDINE | 4phc | B | D130 Y363 | HIS | L-HISTIDINE | 4phc | C | D130 Y363 | HIS | L-HISTIDINE | 4phc | D | D130 Y363 |
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Conservation information for LBS of HARS |
Multiple alignments for P12081 in multiple species |
LBS | AA sequence | # species | Species | D130 | LSLRYDLTVPF | 4 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus | D130 | CSLRYDLTVPF | 4 | Arabidopsis thaliana, Oryza sativa subsp. japonica, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D175 | EFYQCDFDIAG | 7 | Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Caenorhabditis elegans, Bos taurus, Mus musculus | D175 | EFYQCDFDVAG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D177 | YQCDFDIAGQF | 2 | Bos taurus, Mus musculus | D177 | YQCDFDIAGNF | 1 | Homo sapiens | D177 | YQCDFDIAGLF | 1 | Arabidopsis thaliana | D177 | YQCDFDIAGVY | 1 | Oryza sativa subsp. japonica | D177 | YQCDFDVAGTF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D177 | YQCDFDIAGNY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D177 | YQCDFDIAGQY | 1 | Caenorhabditis elegans | G360 | GSVAAGGRYDG | 3 | Homo sapiens, Caenorhabditis elegans, Bos taurus | G360 | GSIAAGGRYDN | 3 | Oryza sativa subsp. japonica, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G360 | GSIGAGGRYDN | 1 | Arabidopsis thaliana | G360 | GSIAAGGRYDG | 1 | Mus musculus | G381 | -VPCVGLSIGV | 3 | Homo sapiens, Bos taurus, Mus musculus | G381 | -VPAVGMSLGI | 1 | Arabidopsis thaliana | G381 | -VPAVGVSLGI | 1 | Oryza sativa subsp. japonica | G381 | QIPCVGISFGV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G381 | -IPCVGISLGL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G381 | -VPCCGVSFGI | 1 | Caenorhabditis elegans | L328 | SLARGLDYYTG | 8 | Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Caenorhabditis elegans, Bos taurus, Mus musculus | L382 | VPCVGLSIGVE | 3 | Homo sapiens, Bos taurus, Mus musculus | L382 | VPAVGMSLGIE | 1 | Arabidopsis thaliana | L382 | VPAVGVSLGIE | 1 | Oryza sativa subsp. japonica | L382 | IPCVGISFGVE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L382 | IPCVGISLGLE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L382 | VPCCGVSFGIE | 1 | Caenorhabditis elegans | Q173 | YREFYQCDFDI | 6 | Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Caenorhabditis elegans, Bos taurus, Mus musculus | Q173 | MREFYQCDFDV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Q173 | MREFYQCDFDI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R157 | IAKVYRRDNPA | 3 | Homo sapiens, Bos taurus, Mus musculus | R157 | IAKVYRRDNP- | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | R157 | IAKVYRRDQPA | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R157 | IAKVYRRDQPV | 1 | Caenorhabditis elegans | R326 | DLSLARGLDYY | 6 | Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Bos taurus, Mus musculus | R326 | DMSLARGLDYY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R326 | EPSLARGLDYY | 1 | Caenorhabditis elegans | S383 | PCVGLSIGVER | 3 | Homo sapiens, Bos taurus, Mus musculus | S383 | PAVGMSLGIER | 1 | Arabidopsis thaliana | S383 | PAVGVSLGIER | 1 | Oryza sativa subsp. japonica | S383 | PCVGISFGVER | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S383 | PCVGISLGLER | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S383 | PCCGVSFGIER | 1 | Caenorhabditis elegans | T132 | LRYDLTVPFAR | 8 | Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Caenorhabditis elegans, Bos taurus, Mus musculus | Y330 | ARGLDYYTGVI | 5 | Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Bos taurus, Mus musculus | Y330 | ARGLDYYTGLI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y330 | ARGLDYYTGII | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y330 | ARGLDYYTGAI | 1 | Caenorhabditis elegans | Y331 | RGLDYYTGVIY | 4 | Homo sapiens, Oryza sativa subsp. japonica, Bos taurus, Mus musculus | Y331 | RGLDYYTGVIF | 1 | Arabidopsis thaliana | Y331 | RGLDYYTGLIY | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y331 | RGLDYYTGIIY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y331 | RGLDYYTGAIY | 1 | Caenorhabditis elegans | Y363 | AAGGRYDGLVG | 3 | Homo sapiens, Bos taurus, Mus musculus | Y363 | AAGGRYDNLVG | 2 | Oryza sativa subsp. japonica, Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y363 | GAGGRYDNLIG | 1 | Arabidopsis thaliana | Y363 | AAGGRYDNLVN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y363 | AAGGRYDGLVK | 1 | Caenorhabditis elegans |
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