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Aliases for AAK1 Gene

Aliases for AAK1 Gene

  • AP2 Associated Kinase 1 2 3
  • EC 2.7.11.1 4 63
  • 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. GO annotations related to this gene include protein serine/threonine kinase activity and AP-2 adaptor complex binding. 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

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

Genomics for AAK1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AAK1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for AAK1 Gene at MOPED

Post-translational modifications for AAK1 Gene

Other Protein References for AAK1 Gene

Domains for AAK1 Gene

Gene Families for AAK1 Gene

Protein Domains for AAK1 Gene

Suggested Antigen Peptide Sequences for AAK1 Gene

Graphical View of Domain Structure for InterPro Entry

Q2M2I8

UniProtKB/Swiss-Prot:

AAK1_HUMAN :
  • Q2M2I8
Domain:
  • Contains 1 protein kinase domain.
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

Gene Ontology (GO) - Molecular Function for AAK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity ISS --
GO:0004713 protein tyrosine kinase activity --
GO:0005112 Notch binding IDA 21464124
GO:0005515 protein binding IPI 22645275
genes like me logo Genes that share ontologies with AAK1: view

Phenotypes for AAK1 Gene

GenomeRNAi human phenotypes for AAK1:
genes like me logo Genes that share phenotypes with AAK1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AAK1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for AAK1 Gene COMPARTMENTS Subcellular localization image for AAK1 gene
Compartment Confidence
plasma membrane 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for AAK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005905 coated pit IEA --
GO:0019897 extrinsic component of plasma membrane ISS --
GO:0030136 clathrin-coated vesicle ISS --
GO:0031252 cell leading edge ISS --
GO:0043195 terminal bouton ISS --
genes like me logo Genes that share ontologies with AAK1: view

Pathways for AAK1 Gene

SuperPathways for AAK1 Gene

No Data Available

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:0032880 regulation of protein localization IDA 18657069
GO:0045747 positive regulation of Notch signaling pathway IDA 21464124
GO:0046777 protein autophosphorylation ISS --
genes like me logo Genes that share ontologies with AAK1: view

No data available for Pathways by source for AAK1 Gene

Compounds for AAK1 Gene

(2) HMDB Compounds for AAK1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AAK1

Primer Products

Flow Cytometry Products

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 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) (5.7), Brain - Cortex (5.0), Brain - Anterior cingulate cortex (BA24) (4.8), Brain - Cerebellar Hemisphere (4.4), and Brain - Cerebellum (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AAK1 Gene

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.
genes like me logo Genes that share expressions with AAK1: view

In Situ Assay Products

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 35
  • 99.55 (n)
  • 99.48 (a)
AAK1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AAK1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AAK1 35
  • 90.18 (n)
  • 91.7 (a)
AAK1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aak1 35
  • 88.63 (n)
  • 91.26 (a)
Aak1 16
Aak1 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AAK1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AAK1 36
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aak1 35
  • 88.21 (n)
  • 90.42 (a)
chicken
(Gallus gallus)
Aves AAK1 35
  • 76.02 (n)
  • 81.11 (a)
AAK1 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AAK1 36
  • 60 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii aak1 36
  • 50 (a)
OneToMany
AAK1 (1 of 2) 36
  • 76 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Nak 36
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-257 36
  • 24 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AKL1 36
  • 17 (a)
ManyToMany
ARK1 36
  • 24 (a)
ManyToMany
PRK1 36
  • 21 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9763 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
Species with no ortholog for AAK1:
  • 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

Selected 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 MAF
rs1047 -- 69,471,026(+) TCACA(A/G/T)TTTTA utr-variant-3-prime
rs3552 -- 69,471,026(+) TTCAC(A/G)TTTTT utr-variant-3-prime
rs15222 -- 69,458,131(+) AAGAG(G/T)TATTG utr-variant-3-prime
rs879510 -- 69,621,283(-) ggcga(A/G)gctgg intron-variant
rs1004524 -- 69,645,816(-) aagca(A/T)gaaaa upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv33940 CNV Loss 17666407
nsv834252 CNV Loss 17160897
nsv819601 CNV Loss 19587683
nsv834253 CNV Loss 17160897
esv2674177 CNV Deletion 23128226
nsv527716 CNV Loss 19592680
esv2668895 CNV Deletion 23128226
nsv214841 CNV Loss 16902084
esv268238 CNV Insertion 20981092

Relevant External Links for AAK1 Gene

HapMap Linkage Disequilibrium report
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
genes like me logo Genes that share disorders with AAK1: view

No data available for UniProtKB/Swiss-Prot for AAK1 Gene

Publications for AAK1 Gene

  1. Differential requirements for AP-2 in clathrin-mediated endocytosis. (PMID: 12952931) Conner S.D. … Schmid S.L. (J. Cell Biol. 2003) 3 4 23
  2. AAK1 regulates Numb function at an early step in clathrin-mediated endocytosis. (PMID: 18657069) Sorensen E.B. … Conner S.D. (Traffic 2008) 3 4 23
  3. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R. … Ohara O. (DNA Res. 1999) 3 4
  4. AAK1-mediated micro2 phosphorylation is stimulated by assembled clathrin. (PMID: 14617351) Conner S.D. … Schmid S.L. (Traffic 2003) 3 23
  5. Identification of an adaptor-associated kinase, AAK1, as a regulator of clathrin-mediated endocytosis. (PMID: 11877461) Conner S.D. … Schmid S.L. (J. Cell Biol. 2002) 2 3

Products for AAK1 Gene

  • Addgene plasmids for AAK1

Sources for AAK1 Gene

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