• Gene id: 22848

Gene Summary

• Gene Symbol: AAK1   Gene   UCSC   Ensembl
• Gene name: AP2 associated kinase 1
• Alternate names: AP2-associated protein kinase 1, adaptor-associated kinase 1,
• Gene location: 2p13.3 (69643738: 69457996)     Exons: 4     NC_000002.12
• Gene summary(Entrez): 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 subfami
• OMIM: 616405

Protein Summary

• Protein general information: Q2M2I8  
  • Name: AP2 associated protein kinase 1 (EC 2.7.11.1) (Adaptor associated kinase 1)
  • Length: 961  
  • Mass: 103885
  • Tissue specificity: Detected in brain, heart and liver. Isoform 1 is the predominant isoform in brain. {ECO
• Sequence:

  MKKFFDSRREQGGSGLGSGSSGGGGSTSGLGSGYIGRVFGIGRQQVTVDEVLAEGGFAIVFLVRTSNGMKCALKR
  MFVNNEHDLQVCKREIQIMRDLSGHKNIVGYIDSSINNVSSGDVWEVLILMDFCRGGQVVNLMNQRLQTGFTENE
  VLQIFCDTCEAVARLHQCKTPIIHRDLKVENILLHDRGHYVLCDFGSATNKFQNPQTEGVNAVEDEIKKYTTLSY
  RAPEMVNLYSGKIITTKADIWALGCLLYKLCYFTLPFGESQVAICDGNFTIPDNSRYSQDMHCLIRYMLEPDPDK
  RPDIYQVSYFSFKLLKKECPIPNVQNSPIPAKLPEPVKASEAAAKKTQPKARLTDPIPTTETSIAPRQRPKAGQT
  QPNPGILPIQPALTPRKRATVQPPPQAAGSSNQPGLLASVPQPKPQAPPSQPLPQTQAKQPQAPPTPQQTPSTQA
  QGLPAQAQATPQHQQQLFLKQQQQQQQPPPAQQQPAGTFYQQQQAQTQQFQAVHPATQKPAIAQFPVVSQGGSQQ
  QLMQNFYQQQQQQQQQQQQQQLATALHQQQLMTQQAALQQKPTMAAGQQPQPQPAAAPQPAPAQEPAIQAPVRQQ
  PKVQTTPPPAVQGQKVGSLTPPSSPKTQRAGHRRILSDVTHSAVFGVPASKSTQLLQAAAAEASLNKSKSATTTP
  SGSPRTSQQNVYNPSEGSTWNPFDDDNFSKLTAEELLNKDFAKLGEGKHPEKLGGSAESLIPGFQSTQGDAFATT
  SFSAGTAEKRKGGQTVDSGLPLLSVSDPFIPLQVPDAPEKLIEGLKSPDTSLLLPDLLPMTDPFGSTSDAVIEKA
  DVAVESLIPGLEPPVPQRLPSQTESVTSNRTDSLTGEDSLLDCSLLSNPTTDLLEEFAPTAISAPVHKAAEDSNL
  ISGFDVPEGSDKVAEDEFDPIPVLITKNPQGGHSRNSSGSSESSLPNLARSLLLVDQLIDL

• Structural information:
  • Protein Domains: (46..31-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR011009  IPR000719  IPR008271  
  • Prosite: PS50011 PS00108
  • PDB: 4WSQ 5L4Q 5TE0
  • PDBsum: 4WSQ 5L4Q 5TE0
  • STRING: ENSP00000386456
• Other Databases: GeneCards:  AAK1  Malacards:  AAK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035612	AP-2 adaptor complex binding	IBA	molecular function
GO:0045747	positive regulation of Notch signaling pathway	IBA	biological process
GO:2000369	regulation of clathrin-dependent endocytosis	IBA	biological process
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0006468	protein phosphorylation	IBA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006897	endocytosis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0032880	regulation of protein localization	IDA	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0045747	positive regulation of Notch signaling pathway	IDA	biological process
GO:0005112	Notch binding	IDA	molecular function
GO:2000369	regulation of clathrin-dependent endocytosis	IDA	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0035612	AP-2 adaptor complex binding	IDA	molecular function
GO:0030136	clathrin-coated vesicle	ISS	cellular component
GO:2000369	regulation of clathrin-dependent endocytosis	IMP	biological process
GO:0046777	protein autophosphorylation	ISS	biological process
GO:0031252	cell leading edge	ISS	cellular component
GO:0004674	protein serine/threonine kinase activity	ISS	molecular function
GO:0043195	terminal bouton	ISS	cellular component
GO:0019897	extrinsic component of plasma membrane	ISS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R