mutLBSgeneDB |
Gene summary for AAK1 |
Gene summary |
Basic gene Info. | Gene symbol | AAK1 |
Gene name | AP2 associated kinase 1 | |
Synonyms | - | |
Cytomap | UCSC genome browser: 2p14 | |
Type of gene | protein-coding | |
RefGenes | NM_014911.3, | |
Description | AP2-associated protein kinase 1adaptor-associated kinase 1 | |
Modification date | 20141207 | |
dbXrefs | HGNC : HGNC | |
Ensembl : ENSG00000115977 | ||
HPRD : 10620 | ||
Protein | UniProt: Q2M2I8 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_AAK1 | |
BioGPS: 22848 | ||
Pathway | NCI Pathway Interaction Database: AAK1 | |
KEGG: AAK1 | ||
REACTOME: AAK1 | ||
Pathway Commons: AAK1 | ||
Context | iHOP: AAK1 | |
ligand binding site mutation search in PubMed: AAK1 | ||
UCL Cancer Institute: AAK1 | ||
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 | GO:0006468 | protein phosphorylation | 17494869 | GO:0032880 | regulation of protein localization | 18657069 | GO:0045747 | positive regulation of Notch signaling pathway | 21464124 | GO:0050821 | protein stabilization | 21464124 | GO:2000369 | regulation of clathrin-mediated endocytosis | 18657069 |
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Ligand binding site mutations for AAK1 |
Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.) : non-synonymous mutation on LBS, Circle size denotes number of samples. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | Q133 | V135G | LUAD | 1 | V60 | A58S | LUAD | 1 | H189 | G188D | 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. |
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Protein structure related information for AAK1 |
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 | H189 | G188D | -1.0336906 | Q133 | V135G | -0.66857294 | V60 | A58S | -0.55965729 |
(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 AAK1 from PDB |
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Differential gene expression and gene-gene network for AAK1 |
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 AAK1 |
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 AAK1 |
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 |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of AAK1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 4wsq | A | H189 | KSA | K-252A | 4wsq | A | V60 Q133 | KSA | K-252A | 4wsq | B | V60 Q133 |
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Conservation information for LBS of AAK1 |
Multiple alignments for Q2M2I8 in multiple species |
LBS | AA sequence | # species | Species |
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