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mutLBSgeneDB |
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| Gene summary for TACR1 |
 Gene summary |
| Basic gene Info. | Gene symbol | TACR1 |
| Gene name | tachykinin receptor 1 | |
| Synonyms | NK1R|NKIR|SPR|TAC1R | |
| Cytomap | UCSC genome browser: 2p12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001058.3, NM_015727.2, | |
| Description | NK-1 receptorNK-1Rsubstance-P receptortachykinin receptor 1 (substance P receptor; neurokinin-1 receptor) | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 162323 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000115353 | ||
| HPRD : 01208 | ||
| Vega : OTTHUMG00000129973 | ||
| Protein | UniProt: P25103 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TACR1 | |
| BioGPS: 6869 | ||
| Pathway | NCI Pathway Interaction Database: TACR1 | |
| KEGG: TACR1 | ||
| REACTOME: TACR1 | ||
| Pathway Commons: TACR1 | ||
| Context | iHOP: TACR1 | |
| ligand binding site mutation search in PubMed: TACR1 | ||
| UCL Cancer Institute: TACR1 | ||
| 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:0007217 | tachykinin receptor signaling pathway | 17986524 |
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| Ligand binding site mutations for TACR1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D276 | L277H | LUAD | 1 | P13 | P13L | SKCM | 1 | Y100 | Y99H | STAD | 1 | Y100 | Y99C | 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 TACR1 |
| 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 | D276 | L277H | -1.6963236 | Y100 | Y99H | -1.4372965 | Y100 | Y99C | -1.1560989 | P13 | P13L | -0.25833236 |
| (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 TACR1 from PDB |
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| Differential gene expression and gene-gene network for TACR1 |
| 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 TACR1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0001973 | Alcoholism | 4 | Biomarker, GeneticVariation |
| umls:C0600467 | Neurogenic Inflammation | 3 | Biomarker |
| umls:C0042963 | Vomiting | 2 | Biomarker |
| umls:C0020429 | Hyperalgesia | 2 | Biomarker |
| umls:C1263846 | Attention Deficit Disorder with Hyperactivity | 1 | Biomarker, GeneticVariation |
| umls:C0005586 | Bipolar Disorder | 1 | Biomarker, GeneticVariation |
| umls:C0428977 | Bradycardia | 1 | Therapeutic |
| umls:C0006261 | Bronchial Diseases | 1 | Biomarker |
| umls:C0020538 | Hypertension | 1 | Biomarker |
| umls:C0038587 | Substance Withdrawal Syndrome | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for TACR1 |
| 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|investigational | DB00673 | Aprepitant | Small molecule |  |
| Approved|vet_approved | DB01221 | Ketamine | Small molecule |  |
| Approved|investigational | DB04894 | Vapreotide | Small molecule |  |
| Investigational | DB05072 | AV608 | Small molecule |  |
| Investigational | DB05418 | GW 597599 | Small molecule |  |
| Investigational | DB05421 | CP-122721 | Small molecule |  |
| Investigational | DB05466 | R673 | Small molecule |  |
| Investigational | DB05790 | SR 140333 | Small molecule |  |
| Approved | DB09048 | Netupitant | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of TACR1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ARG,PRO,LYS,PRO,GLN,GLN,PHE,PHE,GLY,LEU,MET) | 2ks9 | A | D276 | III | Peptide ligand (ARG,PRO,LYS,PRO,GLN,GLN,PHE,PHE,GLY,LEU,MET) | 2ksb | A | P13 | III | Peptide ligand (ARG,PRO,LYS,PRO,GLN,GLN,PHE,PHE,GLY,LEU,MET) | 2ksa | A | Y100 |
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| Conservation information for LBS of TACR1 |
| Multiple alignments for P25103 in multiple species |
| LBS | AA sequence | # species | Species | D10 | LPVDSDLSPNI | 1 | Homo sapiens | D10 | LPVDSDLFPNT | 1 | Mus musculus | D10 | LPMDSDLFPNI | 1 | Rattus norvegicus | D10 | LQVDSDLFPNI | 1 | Canis lupus familiaris | D276 | PYINPDLYLKK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D276 | PYINPDLYLEK | 1 | Canis lupus familiaris | E21 | STNTSEPNQFV | 2 | Homo sapiens, Canis lupus familiaris | E21 | STNTSESNQFV | 2 | Mus musculus, Rattus norvegicus | F103 | WYYGLFYCKFH | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | G101 | NEWYYGLFYCK | 2 | Homo sapiens, Canis lupus familiaris | G101 | NVWYYGLFYCK | 2 | Mus musculus, Rattus norvegicus | I15 | DLFPNISTNTS | 2 | Rattus norvegicus, Canis lupus familiaris | I15 | DLSPNISTNTS | 1 | Homo sapiens | I15 | DLFPNTSTNTS | 1 | Mus musculus | L102 | EWYYGLFYCKF | 2 | Homo sapiens, Canis lupus familiaris | L102 | VWYYGLFYCKF | 2 | Mus musculus, Rattus norvegicus | L5 | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | N3 | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | P13 | DSDLFPNISTN | 2 | Rattus norvegicus, Canis lupus familiaris | P13 | DSDLSPNISTN | 1 | Homo sapiens | P13 | DSDLFPNTSTN | 1 | Mus musculus | P6 | MDNVLPVDSDL | 2 | Homo sapiens, Mus musculus | P6 | MDNVLPMDSDL | 1 | Rattus norvegicus | P6 | MDNVLQVDSDL | 1 | Canis lupus familiaris | S16 | LFPNISTNTSE | 2 | Rattus norvegicus, Canis lupus familiaris | S16 | LSPNISTNTSE | 1 | Homo sapiens | S16 | LFPNTSTNTSE | 1 | Mus musculus | S20 | ISTNTSEPNQF | 2 | Homo sapiens, Canis lupus familiaris | S20 | TSTNTSESNQF | 1 | Mus musculus | S20 | ISTNTSESNQF | 1 | Rattus norvegicus | T17 | SPNISTNTSEP | 1 | Homo sapiens | T17 | FPNTSTNTSES | 1 | Mus musculus | T17 | FPNISTNTSES | 1 | Rattus norvegicus | T17 | FPNISTNTSEP | 1 | Canis lupus familiaris | T171 | GYYSTTETMPS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T171 | GYYSTTETMPN | 1 | Canis lupus familiaris | T19 | NISTNTSEPNQ | 2 | Homo sapiens, Canis lupus familiaris | T19 | NTSTNTSESNQ | 1 | Mus musculus | T19 | NISTNTSESNQ | 1 | Rattus norvegicus | V4 | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | Y100 | HNEWYYGLFYC | 2 | Homo sapiens, Canis lupus familiaris | Y100 | HNVWYYGLFYC | 2 | Mus musculus, Rattus norvegicus |
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