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mutLBSgeneDB |
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| Gene summary for ADRBK1 |
 Gene summary |
| Basic gene Info. | Gene symbol | ADRBK1 |
| Gene name | adrenergic, beta, receptor kinase 1 | |
| Synonyms | BARK1|BETA-ARK1|GRK2 | |
| Cytomap | UCSC genome browser: 11q13.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001619.3, | |
| Description | G-protein coupled receptor kinase 2beta-ARK-1beta-adrenergic receptor kinase 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 109635 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000173020 | ||
| HPRD : 00182 | ||
| Vega : OTTHUMG00000167104 | ||
| Protein | UniProt: P25098 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ADRBK1 | |
| BioGPS: 156 | ||
| Pathway | NCI Pathway Interaction Database: ADRBK1 | |
| KEGG: ADRBK1 | ||
| REACTOME: ADRBK1 | ||
| Pathway Commons: ADRBK1 | ||
| Context | iHOP: ADRBK1 | |
| ligand binding site mutation search in PubMed: ADRBK1 | ||
| UCL Cancer Institute: ADRBK1 | ||
| 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 | GO:0031623 | receptor internalization | 20074556 |
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| Ligand binding site mutations for ADRBK1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L222,K220 | C221Y | COAD | 1 | G203 | G203C | STAD | 1 | R199 | R199C | UCEC | 1 | Y368 | D369N | 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 ADRBK1 |
| 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 | G203 | G203C | 0.078367605 | R199 | R199C | -0.92689291 | K220 | C221Y | -0.35808539 | L222 | C221Y | -0.35808539 | Y368 | D369N | -0.34315551 |
| (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 ADRBK1 from PDB |
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| Differential gene expression and gene-gene network for ADRBK1 |
| 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 ADRBK1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0020538 | Hypertension | 4 | Biomarker |
| umls:C0003873 | Arthritis, Rheumatoid | 1 | Biomarker |
| umls:C0018800 | Cardiomegaly | 1 | Biomarker |
| umls:C0878544 | Cardiomyopathies | 1 | Therapeutic |
| umls:C0000768 | Congenital Abnormalities | 1 | Biomarker |
| umls:C0162820 | Dermatitis, Allergic Contact | 1 | Biomarker |
| umls:C0752351 | Embryo Loss | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ADRBK1 |
| 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 ADRBK1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | BA1 | BALANOL | 3krx | A | R199 G203 K220 | BA1 | BALANOL | 3krw | A | R199 G203 K220 L222 | 29X | 5-{[(3S,4R)-4-(4-FLUOROPHENYL)PIPERIDIN-3-YL]METHOXY}- 1H-ISOINDOL-1-ONE | 4mk0 | A | R199 G203 K220 L222 | 8PR | PAROXETINE | (3S,4R)-3-[(1,3-BENZODIOXOL-5-YLOXY)METHYL]-4-(4- FLUOROPHENYL)PIPERIDINE | 3v5w | A | R199 G203 L222 | KZQ | (4S)-4-(4-FLUOROPHENYL)-N-(2H-INDAZOL-5-YL)-6-METHYL-2- OXO-1,2,3,4-TETRAHYDROPYRIMIDINE-5-CARBOXAMIDE | 4pnk | A | R199 G203 L222 | MG | MAGNESIUM(2+) | 3cik | A | Y368 | MG | MAGNESIUM(2+) | 3krw | A | Y368 | MG | MAGNESIUM(2+) | 3krx | A | Y368 | MG | MAGNESIUM(2+) | 3v5w | A | Y368 |
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| Conservation information for LBS of ADRBK1 |
| Multiple alignments for P25098 in multiple species |
| LBS | AA sequence | # species | Species | A218 | TGKMYAMKCLD | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | A321 | RDLKPANILLD | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | A480 | GEVNAADAFDI | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | D272 | LSFILDLMNGG | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | D278 | LMNGGDLHYHL | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | D335 | HVRISDLGLAC | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | E239 | TLALNERIMLS | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | E360 | GYMAPEVLQKG | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | F202 | IGRGGFGEVYG | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | G198 | VHRIIGRGGFG | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | G200 | RIIGRGGFGEV | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | G201 | IIGRGGFGEVY | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | G203 | GRGGFGEVYGC | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | G337 | RISDLGLACDF | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | H348 | SKKKPHASVGT | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | I197 | SVHRIIGRGGF | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | K220 | KMYAMKCLDKK | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | K364 | PEVLQKGVAYD | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | L222 | YAMKCLDKKRI | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | L273 | SFILDLMNGGD | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | L324 | KPANILLDEHG | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | M274 | FILDLMNGGDL | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | N322 | DLKPANILLDE | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | Q363 | APEVLQKGVAY | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | R199 | HRIIGRGGFGE | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | S334 | GHVRISDLGLA | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | V205 | GGFGEVYGCRK | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | V255 | DCPFIVCMSYA | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | V361 | YMAPEVLQKGV | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | V366 | VLQKGVAYDSS | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | Y368 | QKGVAYDSSAD | 3 | Homo sapiens, Bos taurus, Rattus norvegicus |
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