• Gene id: 84446

Gene Summary

• Gene Symbol: BRSK1   Gene   UCSC   Ensembl
• Aliases: hSAD1
• Gene name: BR serine/threonine kinase 1
• Alternate names: serine/threonine-protein kinase BRSK1, BR serine/threonine-protein kinase 1, SAD1 homolog, SAD1 kinase, SadB kinase short isoform, brain-selective kinase 1, brain-specific serine/threonine-protein kinase 1, protein kinase SAD1A, serine/threonine-protein kinase SA,
• Gene location: 19q13.42 (55283996: 55312561)     Exons: 21     NC_000019.10
• OMIM: 618844

Protein Summary

• Protein general information: Q8TDC3  
  • Name: Serine/threonine protein kinase BRSK1 (EC 2.7.11.1) (Brain selective kinase 1) (EC 2.7.11.26) (Brain specific serine/threonine protein kinase 1) (BR serine/threonine protein kinase 1) (Serine/threonine protein kinase SAD B) (Synapses of Amphids Defective
  • Length: 778  
  • Mass: 85087
  • Tissue specificity: Widely expressed, with highest levels in brain and testis. Protein levels remain constant throughout the cell cycle. {ECO
• Sequence:

  MSSGAKEGGGGSPAYHLPHPHPHPPQHAQYVGPYRLEKTLGKGQTGLVKLGVHCITGQKVAIKIVNREKLSESVL
  MKVEREIAILKLIEHPHVLKLHDVYENKKYLYLVLEHVSGGELFDYLVKKGRLTPKEARKFFRQIVSALDFCHSY
  SICHRDLKPENLLLDEKNNIRIADFGMASLQVGDSLLETSCGSPHYACPEVIKGEKYDGRRADMWSCGVILFALL
  VGALPFDDDNLRQLLEKVKRGVFHMPHFIPPDCQSLLRGMIEVEPEKRLSLEQIQKHPWYLGGKHEPDPCLEPAP
  GRRVAMRSLPSNGELDPDVLESMASLGCFRDRERLHRELRSEEENQEKMIYYLLLDRKERYPSCEDQDLPPRNDV
  DPPRKRVDSPMLSRHGKRRPERKSMEVLSITDAGGGGSPVPTRRALEMAQHSQRSRSVSGASTGLSSSPLSSPRS
  PVFSFSPEPGAGDEARGGGSPTSKTQTLPSRGPRGGGAGEQPPPPSARSTPLPGPPGSPRSSGGTPLHSPLHTPR
  ASPTGTPGTTPPPSPGGGVGGAAWRSRLNSIRNSFLGSPRFHRRKMQVPTAEEMSSLTPESSPELAKRSWFGNFI
  SLDKEEQIFLVLKDKPLSSIKADIVHAFLSIPSLSHSVLSQTSFRAEYKASGGPSVFQKPVRFQVDISSSEGPEP
  SPRRDGSGGGGIYSVTFTLISGPSRRFKRVVETIQAQLLSTHDQPSVQALADEKNGAQTRPAGAPPRSLQPPPGR
  PDPELSSSPRRGPPKDKKLLATNGTPLP

• Structural information:
  • Protein Domains: (34..28-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159-)
    (314..35-)
    (/note="UBA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00212"-)
  • Interpro: IPR011009  IPR000719  IPR017441  IPR008271  IPR015940  
  • Prosite: PS00107 PS50011 PS00108 PS50030
  • STRING: ENSP00000310649
• Other Databases: GeneCards:  BRSK1  Malacards:  BRSK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048156	tau protein binding	NAS	molecular function
GO:0050321	tau-protein kinase activity	NAS	molecular function
GO:0004674	protein serine/threonine kinase activity	ISS	molecular function
GO:0099504	synaptic vesicle cycle	ISS	biological process
GO:0006468	protein phosphorylation	TAS	biological process
GO:0008306	associative learning	ISS	biological process
GO:0008021	synaptic vesicle	TAS	cellular component
GO:0008021	synaptic vesicle	TAS	cellular component
GO:2000807	regulation of synaptic vesicle clustering	TAS	biological process
GO:0010975	regulation of neuron projection development	ISS	biological process
GO:0048167	regulation of synaptic plasticity	ISS	biological process
GO:0150034	distal axon	ISS	cellular component
GO:0050770	regulation of axonogenesis	ISS	biological process
GO:0048786	presynaptic active zone	TAS	cellular component
GO:0048786	presynaptic active zone	TAS	cellular component
GO:0090176	microtubule cytoskeleton organization involved in establishment of planar polarity	ISS	biological process
GO:0030010	establishment of cell polarity	ISS	biological process
GO:0030182	neuron differentiation	ISS	biological process
GO:0005813	centrosome	IBA	cellular component
GO:0030010	establishment of cell polarity	IBA	biological process
GO:0050321	tau-protein kinase activity	IBA	molecular function
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0006468	protein phosphorylation	IBA	biological process
GO:0007409	axonogenesis	IBA	biological process
GO:0035556	intracellular signal transduction	IBA	biological process
GO:0050321	tau-protein kinase activity	IDA	molecular function
GO:0051298	centrosome duplication	ISS	biological process
GO:0050321	tau-protein kinase activity	ISS	molecular function
GO:0008021	synaptic vesicle	ISS	cellular component
GO:0007269	neurotransmitter secretion	ISS	biological process
GO:0005813	centrosome	ISS	cellular component
GO:0043015	gamma-tubulin binding	ISS	molecular function
GO:0007409	axonogenesis	ISS	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:0046872	metal ion binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0050321	tau-protein kinase activity	IEA	molecular function
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0000086	G2/M transition of mitotic cell cycle	IDA	biological process
GO:0009411	response to UV	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0099504	synaptic vesicle cycle	IEA	biological process
GO:0090176	microtubule cytoskeleton organization involved in establishment of planar polarity	IEA	biological process
GO:0051298	centrosome duplication	IEA	biological process
GO:0050770	regulation of axonogenesis	IEA	biological process
GO:0050321	tau-protein kinase activity	IEA	molecular function
GO:0048167	regulation of synaptic plasticity	IEA	biological process
GO:0030010	establishment of cell polarity	IEA	biological process
GO:0010975	regulation of neuron projection development	IEA	biological process
GO:0005813	centrosome	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0007269	neurotransmitter secretion	IEA	biological process
GO:0048812	neuron projection morphogenesis	IEA	biological process
GO:0043015	gamma-tubulin binding	IEA	molecular function
GO:0030182	neuron differentiation	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0008306	associative learning	IEA	biological process
GO:0007409	axonogenesis	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0150034	distal axon	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0048786	presynaptic active zone	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0009411	response to UV	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005524	ATP binding	IC	molecular function
GO:0010212	response to ionizing radiation	IDA	NOT|biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0007095	mitotic G2 DNA damage checkpoint	IDA	biological process
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0030182	neuron differentiation	ISS	biological process
GO:0030010	establishment of cell polarity	ISS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq