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AAK1 (AP2 associated kinase 1)

Identity

Alias_symbol (synonym)KIAA1048
DKFZp686K16132
Other alias-
HGNC (Hugo) AAK1
LocusID (NCBI) 22848
Atlas_Id 43099
Location 2p13.3  [Link to chromosome band 2p13]
Location_base_pair Starts at 69685127 and ends at 69870977 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AAK1 (2p13.3) / C2orf42 (2p13.3)AAK1 (2p13.3) / KCMF1 (2p11.2)AAK1 (2p13.3) / PDZRN4 (12q12)
AAK1 (2p13.3) / UBE2E2 (3p24.3)AAK1 (2p13.3) / USP19 (3p21.31)BCO1 (16q23.2) / AAK1 (2p13.3)
GMCL1 (2p13.3) / AAK1 (2p13.3)GPR107 (9q34.11) / AAK1 (2p13.3)PIGN (18q21.33) / AAK1 (2p13.3)
SSR2 (1q22) / AAK1 (2p13.3)AAK1 2p13.3 / C2orf42 2p13.3AAK1 2p13.3 / KCMF1 2p11.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)AAK1   19679
Cards
Entrez_Gene (NCBI)AAK1  22848  AP2 associated kinase 1
Aliases
GeneCards (Weizmann)AAK1
Ensembl hg19 (Hinxton)ENSG00000115977 [Gene_View]  chr2:69685127-69870977 [Contig_View]  AAK1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000115977 [Gene_View]  chr2:69685127-69870977 [Contig_View]  AAK1 [Vega]
ICGC DataPortalENSG00000115977
TCGA cBioPortalAAK1
AceView (NCBI)AAK1
Genatlas (Paris)AAK1
WikiGenes22848
SOURCE (Princeton)AAK1
Genetics Home Reference (NIH)AAK1
Genomic and cartography
GoldenPath hg19 (UCSC)AAK1  -     chr2:69685127-69870977 -  2p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AAK1  -     2p13.3   [Description]    (hg38-Dec_2013)
EnsemblAAK1 - 2p13.3 [CytoView hg19]  AAK1 - 2p13.3 [CytoView hg38]
Mapping of homologs : NCBIAAK1 [Mapview hg19]  AAK1 [Mapview hg38]
OMIM616405   
Gene and transcription
Genbank (Entrez)AB028971 AF090100 AF090101 AK055622 AK056043
RefSeq transcript (Entrez)NM_014911
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)AAK1
Cluster EST : UnigeneHs.468878 [ NCBI ]
CGAP (NCI)Hs.468878
Alternative Splicing GalleryENSG00000115977
Gene ExpressionAAK1 [ NCBI-GEO ]   AAK1 [ EBI - ARRAY_EXPRESS ]   AAK1 [ SEEK ]   AAK1 [ MEM ]
Gene Expression Viewer (FireBrowse)AAK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22848
GTEX Portal (Tissue expression)AAK1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ2M2I8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ2M2I8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ2M2I8
Splice isoforms : SwissVarQ2M2I8
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
PhosPhoSitePlusQ2M2I8
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Kinase-like_dom    Prot_kinase_dom    Ser/Thr_kinase_AS   
Domain families : Pfam (Sanger)Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00069   
Conserved Domain (NCBI)AAK1
DMDM Disease mutations22848
Blocks (Seattle)AAK1
PDB (SRS)4WSQ   
PDB (PDBSum)4WSQ   
PDB (IMB)4WSQ   
PDB (RSDB)4WSQ   
Structural Biology KnowledgeBase4WSQ   
SCOP (Structural Classification of Proteins)4WSQ   
CATH (Classification of proteins structures)4WSQ   
SuperfamilyQ2M2I8
Human Protein AtlasENSG00000115977
Peptide AtlasQ2M2I8
HPRD10620
IPIIPI00916402   IPI00479760   IPI00981877   IPI00916534   
Protein Interaction databases
DIP (DOE-UCLA)Q2M2I8
IntAct (EBI)Q2M2I8
FunCoupENSG00000115977
BioGRIDAAK1
STRING (EMBL)AAK1
ZODIACAAK1
Ontologies - Pathways
QuickGOQ2M2I8
Ontology : AmiGOprotein serine/threonine kinase activity  protein serine/threonine kinase activity  Notch binding  protein binding  ATP binding  cytoplasm  coated pit  protein phosphorylation  endocytosis  extrinsic component of plasma membrane  clathrin-coated vesicle  cell leading edge  regulation of protein localization  AP-2 adaptor complex binding  terminal bouton  positive regulation of Notch signaling pathway  protein autophosphorylation  protein stabilization  regulation of clathrin-mediated endocytosis  regulation of clathrin-mediated endocytosis  
Ontology : EGO-EBIprotein serine/threonine kinase activity  protein serine/threonine kinase activity  Notch binding  protein binding  ATP binding  cytoplasm  coated pit  protein phosphorylation  endocytosis  extrinsic component of plasma membrane  clathrin-coated vesicle  cell leading edge  regulation of protein localization  AP-2 adaptor complex binding  terminal bouton  positive regulation of Notch signaling pathway  protein autophosphorylation  protein stabilization  regulation of clathrin-mediated endocytosis  regulation of clathrin-mediated endocytosis  
NDEx NetworkAAK1
Atlas of Cancer Signalling NetworkAAK1
Wikipedia pathwaysAAK1
Orthology - Evolution
OrthoDB22848
GeneTree (enSembl)ENSG00000115977
Phylogenetic Trees/Animal Genes : TreeFamAAK1
HOVERGENQ2M2I8
HOGENOMQ2M2I8
Homologs : HomoloGeneAAK1
Homology/Alignments : Family Browser (UCSC)AAK1
Gene fusions - Rearrangements
Fusion : MitelmanAAK1/C2orf42 [2p13.3/2p13.3]  
Fusion : MitelmanAAK1/KCMF1 [2p13.3/2p11.2]  [t(2;2)(p11;p13)]  
Fusion : MitelmanGMCL1/AAK1 [2p13.3/2p13.3]  [t(2;2)(p13;p13)]  
Fusion: TCGAAAK1 2p13.3 C2orf42 2p13.3 OV
Fusion: TCGAAAK1 2p13.3 KCMF1 2p11.2 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAAK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AAK1
dbVarAAK1
ClinVarAAK1
1000_GenomesAAK1 
Exome Variant ServerAAK1
ExAC (Exome Aggregation Consortium)AAK1 (select the gene name)
Genetic variants : HAPMAP22848
Genomic Variants (DGV)AAK1 [DGVbeta]
DECIPHER (Syndromes)2:69685127-69870977  ENSG00000115977
CONAN: Copy Number AnalysisAAK1 
Mutations
ICGC Data PortalAAK1 
TCGA Data PortalAAK1 
Broad Tumor PortalAAK1
OASIS PortalAAK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAAK1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAAK1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AAK1
DgiDB (Drug Gene Interaction Database)AAK1
DoCM (Curated mutations)AAK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AAK1 (select a term)
intoGenAAK1
Cancer3DAAK1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616405   
Orphanet
MedgenAAK1
Genetic Testing Registry AAK1
NextProtQ2M2I8 [Medical]
TSGene22848
GENETestsAAK1
Huge Navigator AAK1 [HugePedia]
snp3D : Map Gene to Disease22848
BioCentury BCIQAAK1
ClinGenAAK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22848
Chemical/Pharm GKB GenePA134990616
Clinical trialAAK1
Miscellaneous
canSAR (ICR)AAK1 (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAAK1
EVEXAAK1
GoPubMedAAK1
iHOPAAK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 14:51:06 CEST 2017

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