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BRSK1 BR serine/threonine kinase 1 [ Homo sapiens (human) ]

Gene ID: 84446, updated on 23-Nov-2023

Summary

Official Symbol
BRSK1provided by HGNC
Official Full Name
BR serine/threonine kinase 1provided by HGNC
Primary source
HGNC:HGNC:18994
See related
Ensembl:ENSG00000160469 MIM:609235; AllianceGenome:HGNC:18994
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SAD-B; hSAD1
Summary
Enables magnesium ion binding activity; protein serine/threonine kinase activity; and tau-protein kinase activity. Involved in mitotic G2 DNA damage checkpoint signaling and protein phosphorylation. Acts upstream of or within G2/M transition of mitotic cell cycle; peptidyl-serine phosphorylation; and response to UV. Located in cell junction; cytoplasm; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 29.2), adrenal (RPKM 3.5) and 4 other tissues See more
Orthologs
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Genomic context

See BRSK1 in Genome Data Viewer
Location:
19q13.42
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55283997..55312562)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58379535..58408087)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55795365..55823930)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene protein phosphatase 6 regulatory subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15079 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15080 Neighboring gene microRNA 6803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15081 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15083 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15084 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:55768465-55768658 Neighboring gene Sharpr-MPRA regulatory region 13763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15087 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55781781-55782280 Neighboring gene HSPA (Hsp70) binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55789069-55789569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15089 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11021 Neighboring gene Sharpr-MPRA regulatory region 11129 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55824387-55824912 Neighboring gene transmembrane protein 150B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55849388-55850162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55850163-55850936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15090 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11023 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55855204-55856008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55856009-55856814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55858005-55858699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11024 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11025 Neighboring gene lysine methyltransferase 5C Neighboring gene cytochrome c oxidase subunit 6B2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.
EBI GWAS Catalog
Loci at chromosomes 13, 19 and 20 influence age at natural menopause.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ43009, KIAA1811

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IC
Inferred by Curator
more info
PubMed 
enables gamma-tubulin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein kinase binding IEA
Inferred from Electronic Annotation
more info
 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein serine/threonine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables tau protein binding NAS
Non-traceable Author Statement
more info
PubMed 
enables tau-protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables tau-protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables tau-protein kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables tau-protein kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA damage response IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within G2/M transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
involved_in associative learning ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in axonogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in centrosome duplication ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in establishment of cell polarity IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in establishment of cell polarity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in microtubule cytoskeleton organization involved in establishment of planar polarity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mitotic G2 DNA damage checkpoint signaling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neurotransmitter secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein phosphorylation TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of synaptic plasticity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of synaptic vesicle clustering TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within response to UV IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to UV IDA
Inferred from Direct Assay
more info
PubMed 
NOT involved_in response to ionizing radiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in synaptic vesicle cycle ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in cell junction IDA
Inferred from Direct Assay
more info
 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in centrosome ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in distal axon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in presynaptic active zone TAS
Traceable Author Statement
more info
PubMed 
located_in synaptic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in synaptic vesicle TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
serine/threonine-protein kinase BRSK1
Names
BR serine/threonine-protein kinase 1
SAD1 homolog
SAD1 kinase
brain-selective kinase 1
brain-specific serine/threonine-protein kinase 1
protein kinase SAD1A
serine/threonine-protein kinase SAD-B
synapses of Amphids Defective homolog 1
NP_115806.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_032430.2NP_115806.1  serine/threonine-protein kinase BRSK1

    See identical proteins and their annotated locations for NP_115806.1

    Status: VALIDATED

    Source sequence(s)
    AC008974, AF479827
    Consensus CDS
    CCDS12921.1
    UniProtKB/Swiss-Prot
    F1DG44, Q5J5B5, Q8NDD0, Q8NDR4, Q8TDC2, Q8TDC3, Q96AV4, Q96JL4
    Related
    ENSP00000310649.1, ENST00000309383.6
    Conserved Domains (2) summary
    cd14340
    Location:314367
    UBA_BRSK; UBA domain found in serine/threonine-protein kinase BRSK1, BRSK2 and similar proteins
    cd14081
    Location:32285
    STKc_BRSK1_2; Catalytic domain of Brain-specific serine/threonine-protein kinases 1 and 2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    55283997..55312562
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    58379535..58408087
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)