Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84446
Gene name Gene Name - the full gene name approved by the HGNC.
BR serine/threonine kinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BRSK1
Synonyms (NCBI Gene) Gene synonyms aliases
SAD-B, hSAD1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.42
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT042770 hsa-miR-339-5p CLASH 23622248
MIRT615185 hsa-miR-4632-3p HITS-CLIP 23824327
MIRT615184 hsa-miR-129-5p HITS-CLIP 23824327
MIRT615185 hsa-miR-4632-3p HITS-CLIP 23824327
MIRT615184 hsa-miR-129-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle IDA 15150265
GO:0000287 Function Magnesium ion binding IDA 14976552
GO:0004674 Function Protein serine/threonine kinase activity IBA 21873635
GO:0004674 Function Protein serine/threonine kinase activity IDA 15150265
GO:0004674 Function Protein serine/threonine kinase activity ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609235 18994 ENSG00000160469
Protein
UniProt ID Q8TDC3
Protein 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
Protein function Serine/threonine-protein kinase that plays a key role in polarization of neurons and centrosome duplication. Phosphorylates CDC25B, CDC25C, MAPT/TAU, RIMS1, TUBG1, TUBG2 and WEE1. Following phosphorylation and activation by STK11/LKB1, acts as a
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 34 285 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels in brain and testis. Protein levels remain constant throughout the cell cycle. {ECO:0000269|PubMed:15150265}.
Sequence
MSSGAKEGGGGSPAYHLPHPHPHPPQHAQYVGPYRLEKTLGKGQTGLVKLGVHCITGQKV
AIKIVNREKLSESVLMKVEREIAILKLIEHPHVLKLHDVYENKKYLYLVLEHVSGGELFD
YLVKKGRLTPKEARKFFRQIVSALDFCHSYSICHRDLKPENLLLDEKNNIRIADFGMASL
QVGDSLLETSCGSPHYACPEVIKGEKYDGRRADMWSCGVILFALLVGALPFDDDNLRQLL
EKVKRGVFHMPHFIPPDCQSLLRGMIEVEPEKRLSLEQIQKHPWY
LGGKHEPDPCLEPAP
GRRVAMRSLPSNGELDPDVLESMASLGCFRDRERLHRELRSEEENQEKMIYYLLLDRKER
YPSCEDQDLPPRNDVDPPRKRVDSPMLSRHGKRRPERKSMEVLSITDAGGGGSPVPTRRA
LEMAQHSQRSRSVSGASTGLSSSPLSSPRSPVFSFSPEPGAGDEARGGGSPTSKTQTLPS
RGPRGGGAGEQPPPPSARSTPLPGPPGSPRSSGGTPLHSPLHTPRASPTGTPGTTPPPSP
GGGVGGAAWRSRLNSIRNSFLGSPRFHRRKMQVPTAEEMSSLTPESSPELAKRSWFGNFI
SLDKEEQIFLVLKDKPLSSIKADIVHAFLSIPSLSHSVLSQTSFRAEYKASGGPSVFQKP
VRFQVDISSSEGPEPSPRRDGSGGGGIYSVTFTLISGPSRRFKRVVETIQAQLLSTHDQP
SVQALADEKNGAQTRPAGAPPRSLQPPPGRPDPELSSSPRRGPPKDKKLLATNGTPLP
Sequence length 778
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Gastric cancer Gastric Adenocarcinoma rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802
View all (244 more)
Lung carcinoma Large cell carcinoma of lung rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355
View all (44 more)
Unknown
Disease term Disease name Evidence References Source
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Osteoarthritis Of Hip Osteoarthritis Of Hip GWAS
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 19448619
Cardiovascular Diseases Associate 19448619
Glomerulonephritis Membranous Associate 30865617
Inflammation Associate 30865617
Mitochondrial Diseases Associate 37140697
Myopathy with Giant Abnormal Mitochondria Associate 37140697
Neoplasms Stimulate 37140697
Neoplasms Associate 40095483
Uterine Cervical Neoplasms Associate 37140697