• Gene id: 2580

Gene Summary

• Gene Symbol: GAK   Gene   UCSC   Ensembl
• Aliases: DNAJ26, DNAJC26
• Gene name: cyclin G associated kinase
• Alternate names: cyclin-G-associated kinase, auxilin-2,
• Gene location: 4p16.3 (932329: 849275)     Exons: 31     NC_000004.12
• Gene summary(Entrez): In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose activities are regulated by cyclins and CDK inhibitors in a diverse array of mechanisms that involve the control of phosphorylation and dephosphorylation of Se
• OMIM: 602537

Protein Summary

• Protein general information: O14976  
  • Name: Cyclin G associated kinase (EC 2.7.11.1)
  • Length: 1311  
  • Mass: 143191
  • Tissue specificity: Ubiquitous. Highest in testis.
• Sequence:

  MSLLQSALDFLAGPGSLGGASGRDQSDFVGQTVELGELRLRVRRVLAEGGFAFVYEAQDVGSGREYALKRLLSNE
  EEKNRAIIQEVCFMKKLSGHPNIVQFCSAASIGKEESDTGQAEFLLLTELCKGQLVEFLKKMESRGPLSCDTVLK
  IFYQTCRAVQHMHRQKPPIIHRDLKVENLLLSNQGTIKLCDFGSATTISHYPDYSWSAQRRALVEEEITRNTTPM
  YRTPEIIDLYSNFPIGEKQDIWALGCILYLLCFRQHPFEDGAKLRIVNGKYSIPPHDTQYTVFHSLIRAMLQVNP
  EERLSIAEVVHQLQEIAAARNVNPKSPITELLEQNGGYGSATLSRGPPPPVGPAGSGYSGGLALAEYDQPYGGFL
  DILRGGTERLFTNLKDTSSKVIQSVANYAKGDLDISYITSRIAVMSFPAEGVESALKNNIEDVRLFLDSKHPGHY
  AVYNLSPRTYRPSRFHNRVSECGWAARRAPHLHTLYNICRNMHAWLRQDHKNVCVVHCMDGRAASAVAVCSFLCF
  CRLFSTAEAAVYMFSMKRCPPGIWPSHKRYIEYMCDMVAEEPITPHSKPILVRAVVMTPVPLFSKQRSGCRPFCE
  VYVGDERVASTSQEYDKMRDFKIEDGKAVIPLGVTVQGDVLIVIYHARSTLGGRLQAKMASMKMFQIQFHTGFVP
  RNATTVKFAKYDLDACDIQEKYPDLFQVNLEVEVEPRDRPSREAPPWENSSMRGLNPKILFSSREEQQDILSKFG
  KPELPRQPGSTAQYDAGAGSPEAEPTDSDSPPSSSADASRFLHTLDWQEEKEAETGAENASSKESESALMEDRDE
  SEVSDEGGSPISSEGQEPRADPEPPGLAAGLVQQDLVFEVETPAVLPEPVPQEDGVDLLGLHSEVGAGPAVPPQA
  CKAPSSNTDLLSCLLGPPEAASQGPPEDLLSEDPLLLASPAPPLSVQSTPRGGPPAAADPFGPLLPSSGNNSQPC
  SNPDLFGEFLNSDSVTVPPSFPSAHSAPPPSCSADFLHLGDLPGEPSKMTASSSNPDLLGGWAAWTETAASAVAP
  TPATEGPLFSPGGQPAPCGSQASWTKSQNPDPFADLGDLSSGLQGSPAGFPPGGFIPKTATTPKGSSSWQTSRPP
  AQGASWPPQAKPPPKACTQPRPNYASNFSVIGAREERGVRAPSFAQKPKVSENDFEDLLSNQGFSSRSDKKGPKT
  IAEMRKQDLAKDTDPLKLKLLDWIEGKERNIRALLSTLHTVLWDGESRWTPVGMADLVAPEQVKKHYRRAVLAVH
  PDKAAGQPYEQHAKMIFMELNDAWSEFENQGSRPLF

• Structural information:
  • Protein Domains: (40..31-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159-)
    (399..56-)
    (/note="Phosphatase-tensin-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00590-)
    (572..71-)
    (/note="C2-tensin-type)
    (/evidence="ECO:000-)
  • Interpro: IPR001623  IPR036869  IPR011009  IPR029021  IPR000719   IPR008271  IPR014020  IPR029023  
  • Prosite: PS51182 PS50076 PS51181 PS50011 PS00108
  • CDD: cd06257
  • PDB: 4C57 4C58 4C59 4O38 4Y8D 5Y7Z 5Y80
  • PDBsum: 4C57 4C58 4C59 4O38 4Y8D 5Y7Z 5Y80
  • STRING: ENSP00000314499
• Other Databases: GeneCards:  GAK  Malacards:  GAK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006898	receptor-mediated endocytosis	IMP	biological process
GO:0007029	endoplasmic reticulum organization	ISS	biological process
GO:0007030	Golgi organization	IMP	biological process
GO:0007030	Golgi organization	IMP	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0031982	vesicle	IDA	cellular component
GO:0030332	cyclin binding	ISS	molecular function
GO:0072659	protein localization to plasma membrane	IMP	biological process
GO:0034067	protein localization to Golgi apparatus	IMP	biological process
GO:0010977	negative regulation of neuron projection development	IDA	biological process
GO:1905224	clathrin-coated pit assembly	IMP	biological process
GO:0072318	clathrin coat disassembly	IMP	biological process
GO:0072583	clathrin-dependent endocytosis	IMP	biological process
GO:0090160	Golgi to lysosome transport	IMP	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0072583	clathrin-dependent endocytosis	IBA	biological process
GO:0072318	clathrin coat disassembly	IBA	biological process
GO:0031982	vesicle	IBA	cellular component
GO:0030276	clathrin binding	IBA	molecular function
GO:0006898	receptor-mediated endocytosis	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0016310	phosphorylation	IEA	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:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051087	chaperone binding	TAS	molecular function
GO:0051085	chaperone cofactor-dependent protein refolding	TAS	biological process
GO:0016191	synaptic vesicle uncoating	ISS	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0006898	receptor-mediated endocytosis	IMP	biological process
GO:0007029	endoplasmic reticulum organization	ISS	biological process
GO:0007030	Golgi organization	IMP	biological process
GO:0007030	Golgi organization	IMP	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0031982	vesicle	IDA	cellular component
GO:0030332	cyclin binding	ISS	molecular function
GO:0072659	protein localization to plasma membrane	IMP	biological process
GO:0034067	protein localization to Golgi apparatus	IMP	biological process
GO:0010977	negative regulation of neuron projection development	IDA	biological process
GO:1905224	clathrin-coated pit assembly	IMP	biological process
GO:0072318	clathrin coat disassembly	IMP	biological process
GO:0072583	clathrin-dependent endocytosis	IMP	biological process
GO:0090160	Golgi to lysosome transport	IMP	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0072583	clathrin-dependent endocytosis	IBA	biological process
GO:0072318	clathrin coat disassembly	IBA	biological process
GO:0031982	vesicle	IBA	cellular component
GO:0030276	clathrin binding	IBA	molecular function
GO:0006898	receptor-mediated endocytosis	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0016310	phosphorylation	IEA	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:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051087	chaperone binding	TAS	molecular function
GO:0051085	chaperone cofactor-dependent protein refolding	TAS	biological process
GO:0016191	synaptic vesicle uncoating	ISS	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray