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Aliases for AAK1 Gene

Aliases for AAK1 Gene

  • AP2 Associated Kinase 1 2 3 5
  • EC 2.7.11.1 4 58
  • Adaptor-Associated Kinase 1 4
  • KIAA1048 4

External Ids for AAK1 Gene

Previous GeneCards Identifiers for AAK1 Gene

  • GC02M069717
  • GC02M069899
  • GC02M069683
  • GC02M069619
  • GC02M069561
  • GC02M069685

Summaries for AAK1 Gene

Entrez Gene Summary for AAK1 Gene

  • Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. This gene encodes a member of the SNF1 subfamily of Ser/Thr protein kinases. The protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for AAK1 Gene

AAK1 (AP2 Associated Kinase 1) is a Protein Coding gene. Among its related pathways are Clathrin-mediated endocytosis and Vesicle-mediated transport. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is BMP2K.

UniProtKB/Swiss-Prot for AAK1 Gene

  • Regulates clathrin-mediated endocytosis by phosphorylating the AP2M1/mu2 subunit of the adaptor protein complex 2 (AP-2) which ensures high affinity binding of AP-2 to cargo membrane proteins during the initial stages of endocytosis. Isoform 1 and isoform 2 display similar levels of kinase activity towards AP2M1. Regulates phosphorylation of other AP-2 subunits as well as AP-2 localization and AP-2-mediated internalization of ligand complexes. Phosphorylates NUMB and regulates its cellular localization, promoting NUMB localization to endosomes. Binds to and stabilizes the activated form of NOTCH1, increases its localization in endosomes and regulates its transcriptional activity.

Gene Wiki entry for AAK1 Gene

Additional gene information for AAK1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AAK1 Gene

Genomics for AAK1 Gene

Regulatory Elements for AAK1 Gene

Enhancers for AAK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H069641 1.4 ENCODE dbSUPER 17.2 +30.2 30175 6 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 TIA1 AAK1 MXD1 SNRNP27 GFPT1 ANXA4
GH02H069647 1.4 Ensembl ENCODE dbSUPER 12.9 +24.7 24708 3 NFRKB BATF ZNF143 ATF7 RUNX3 CREM IKZF2 SMARCA5 ZBTB2 CBFB GFPT1 AAK1 SNRNP27 MXD1 ANXA4
GH02H069624 1.4 Ensembl ENCODE dbSUPER 11.6 +49.0 49002 1 HDAC1 TBP HDGF PKNOX1 FEZF1 ZBTB40 CHAMP1 GATA2 ZNF366 NCOA1 TIA1 AAK1 GFPT1 ANXA4 B3GALNT1P1
GH02H069714 1.2 Ensembl ENCODE 11.7 -40.5 -40482 0 ELF3 ATF1 ARID4B ZNF2 ZSCAN9 RAD21 RARA ZNF143 ATF7 RUNX3 AAK1 ENSG00000231024 GC02P069822
GH02H069570 1.1 Ensembl ENCODE dbSUPER 11.8 +102.6 102568 3 GATA3 JUND NFYB JUN MNT FOS AAK1 GFPT1 GC02P069577 GC02M069527 SNORA36C
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AAK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AAK1 Gene

Chromosome:
2
Start:
69,457,995 bp from pter
End:
69,674,349 bp from pter
Size:
216,355 bases
Orientation:
Minus strand

Genomic View for AAK1 Gene

Genes around AAK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AAK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AAK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AAK1 Gene

Proteins for AAK1 Gene

  • Protein details for AAK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M2I8-AAK1_HUMAN
    Recommended name:
    AP2-associated protein kinase 1
    Protein Accession:
    Q2M2I8
    Secondary Accessions:
    • Q4ZFZ3
    • Q53RX6
    • Q9UPV4

    Protein attributes for AAK1 Gene

    Size:
    961 amino acids
    Molecular mass:
    103885 Da
    Quaternary structure:
    • Interacts with alpha-adaptin, AP-2, clathrin, NUMB and EPS15 isoform 2. Interacts with membrane-bound activated NOTCH1 but not with the inactive full-length form of NOTCH1. Preferentially interacts with monoubiquitinated activated NOTCH1 compared to the non-ubiquitinated form.
    SequenceCaution:
    • Sequence=BAA83000.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AAK1 Gene

    Alternative splice isoforms for AAK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AAK1 Gene

Selected DME Specific Peptides for AAK1 Gene

Q2M2I8:
  • DIWALGCLLYKL
  • YVLCDFGSATNKF
  • FTLPFGESQVAICDG
  • MNQRLQT
  • VWEVLILM
  • EVLQIFCDTCEAVARLHQCKTPIIHRDLKVENILL
  • DNFSKLT
  • LAEGGFA
  • EIKKYTTLSYRAPEM
  • TETSIAPRQRPKA
  • FTIPDNSRYS

Post-translational modifications for AAK1 Gene

Other Protein References for AAK1 Gene

Domains & Families for AAK1 Gene

Gene Families for AAK1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for AAK1 Gene

Graphical View of Domain Structure for InterPro Entry

Q2M2I8

UniProtKB/Swiss-Prot:

AAK1_HUMAN :
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
genes like me logo Genes that share domains with AAK1: view

Function for AAK1 Gene

Molecular function for AAK1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
Stimulated by clathrin.
UniProtKB/Swiss-Prot Function:
Regulates clathrin-mediated endocytosis by phosphorylating the AP2M1/mu2 subunit of the adaptor protein complex 2 (AP-2) which ensures high affinity binding of AP-2 to cargo membrane proteins during the initial stages of endocytosis. Isoform 1 and isoform 2 display similar levels of kinase activity towards AP2M1. Regulates phosphorylation of other AP-2 subunits as well as AP-2 localization and AP-2-mediated internalization of ligand complexes. Phosphorylates NUMB and regulates its cellular localization, promoting NUMB localization to endosomes. Binds to and stabilizes the activated form of NOTCH1, increases its localization in endosomes and regulates its transcriptional activity.

Enzyme Numbers (IUBMB) for AAK1 Gene

Phenotypes From GWAS Catalog for AAK1 Gene

Gene Ontology (GO) - Molecular Function for AAK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity TAS --
GO:0005112 Notch binding IDA 21464124
GO:0005515 protein binding IPI 22645275
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with AAK1: view
genes like me logo Genes that share phenotypes with AAK1: view

Animal Models for AAK1 Gene

MGI Knock Outs for AAK1:
  • Aak1 tm1b(EUCOMM)Hmgu

Animal Model Products

CRISPR Products

miRNA for AAK1 Gene

miRTarBase miRNAs that target AAK1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AAK1
  • Applied Biological Materials Clones for AAK1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AAK1 Gene

Localization for AAK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AAK1 Gene

Cell membrane; Peripheral membrane protein. Membrane, clathrin-coated pit. Note=Active when found in clathrin-coated pits at the plasma membrane. In neuronal cells, enriched at presynaptic terminals. In non-neuronal cells, enriched at leading edge of migrating cells (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AAK1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
mitochondrion 2
nucleus 2
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AAK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0005905 clathrin-coated pit IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with AAK1: view

Pathways & Interactions for AAK1 Gene

genes like me logo Genes that share pathways with AAK1: view

SIGNOR curated interactions for AAK1 Gene

Activates:
Other effect:

Gene Ontology (GO) - Biological Process for AAK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IDA 17494869
GO:0006897 endocytosis IEA --
GO:0016310 phosphorylation IEA --
GO:0032880 regulation of protein localization IDA 18657069
GO:0045747 positive regulation of Notch signaling pathway IDA 21464124
genes like me logo Genes that share ontologies with AAK1: view

Drugs & Compounds for AAK1 Gene

(1) Drugs for AAK1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Nutra Agonist 0

(1) Additional Compounds for AAK1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with AAK1: view

Transcripts for AAK1 Gene

Unigene Clusters for AAK1 Gene

AP2 associated kinase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for AAK1
  • Applied Biological Materials Clones for AAK1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for AAK1 Gene

No ASD Table

Relevant External Links for AAK1 Gene

GeneLoc Exon Structure for
AAK1
ECgene alternative splicing isoforms for
AAK1

Expression for AAK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AAK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AAK1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.7), Brain - Cortex (x5.0), Brain - Anterior cingulate cortex (BA24) (x4.8), Brain - Cerebellar Hemisphere (x4.4), and Brain - Cerebellum (x4.4).

Protein differential expression in normal tissues from HIPED for AAK1 Gene

This gene is overexpressed in Lung (20.1), Frontal cortex (8.4), and Brain (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AAK1 Gene



Protein tissue co-expression partners for AAK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AAK1 Gene:

AAK1

SOURCE GeneReport for Unigene cluster for AAK1 Gene:

Hs.468878

mRNA Expression by UniProt/SwissProt for AAK1 Gene:

Q2M2I8-AAK1_HUMAN
Tissue specificity: Detected in brain, heart and liver. Isoform 1 is the predominant isoform in brain.

Evidence on tissue expression from TISSUES for AAK1 Gene

  • Nervous system(4.8)
  • Liver(4.2)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with AAK1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AAK1 Gene

Orthologs for AAK1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AAK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AAK1 33 34
  • 99.55 (n)
cow
(Bos Taurus)
Mammalia AAK1 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AAK1 33 34
  • 90.18 (n)
mouse
(Mus musculus)
Mammalia Aak1 33 16 34
  • 88.63 (n)
rat
(Rattus norvegicus)
Mammalia Aak1 33
  • 88.21 (n)
oppossum
(Monodelphis domestica)
Mammalia AAK1 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AAK1 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves AAK1 33 34
  • 76.02 (n)
lizard
(Anolis carolinensis)
Reptilia AAK1 34
  • 60 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii AAK1 (1 of 2) 34
  • 76 (a)
OneToMany
aak1 34
  • 50 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Nak 34
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-257 34
  • 24 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARK1 34
  • 24 (a)
ManyToMany
PRK1 34
  • 21 (a)
ManyToMany
AKL1 34
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9763 33
Species where no ortholog for AAK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for AAK1 Gene

ENSEMBL:
Gene Tree for AAK1 (if available)
TreeFam:
Gene Tree for AAK1 (if available)

Paralogs for AAK1 Gene

Paralogs for AAK1 Gene

(2) SIMAP similar genes for AAK1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with AAK1: view

Variants for AAK1 Gene

Sequence variations from dbSNP and Humsavar for AAK1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000014394 -- 69,470,603(+) ATTAA(G/T)TTGGC utr-variant-3-prime
rs1000031983 -- 69,572,817(+) AGACC(C/T)GAGAG intron-variant
rs1000045646 -- 69,467,528(+) GTTGG(A/G)GGTAA utr-variant-3-prime
rs1000049146 -- 69,517,044(+) CCACC(C/T)CTAGT intron-variant
rs1000073201 -- 69,520,526(+) GCTAA(C/T)TTTTT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for AAK1 Gene

Variant ID Type Subtype PubMed ID
esv2668895 CNV deletion 23128226
esv2674177 CNV deletion 23128226
esv33940 CNV loss 17666407
esv3396390 CNV insertion 20981092
esv3591183 CNV loss 21293372
esv3591184 CNV loss 21293372
nsv214841 CNV deletion 16902084
nsv527716 CNV loss 19592680
nsv819601 CNV loss 19587683
nsv834252 CNV loss 17160897
nsv834253 CNV loss 17160897
nsv954240 CNV deletion 24416366
nsv961413 CNV duplication 23825009
nsv961414 CNV duplication 23825009

Variation tolerance for AAK1 Gene

Residual Variation Intolerance Score: 25.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.51; 94.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AAK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AAK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AAK1 Gene

Disorders for AAK1 Gene

Relevant External Links for AAK1

Genetic Association Database (GAD)
AAK1
Human Genome Epidemiology (HuGE) Navigator
AAK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AAK1

No disorders were found for AAK1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AAK1 Gene

Publications for AAK1 Gene

  1. AAK1 regulates Numb function at an early step in clathrin-mediated endocytosis. (PMID: 18657069) Sorensen EB … Conner SD (Traffic (Copenhagen, Denmark) 2008) 3 4 22 60
  2. Differential requirements for AP-2 in clathrin-mediated endocytosis. (PMID: 12952931) Conner SD … Schmid SL (The Journal of cell biology 2003) 3 4 22 60
  3. The adaptor-associated kinase 1, AAK1, is a positive regulator of the Notch pathway. (PMID: 21464124) Gupta-Rossi N … Israël A (The Journal of biological chemistry 2011) 3 4 60
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  5. Genomewide association study for onset age in Parkinson disease. (PMID: 19772629) Latourelle JC … GenePD Investigators, Coordinators and Molecular Genetic Laboratories (BMC medical genetics 2009) 3 45 60

Products for AAK1 Gene

  • Addgene plasmids for AAK1

Sources for AAK1 Gene

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