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

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, Nov 2024]
Expression: Biased expression in brain (RPKM 29.2), adrenal (RPKM 3.5) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.42

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (55283997..55312562)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (58379535..58408087)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (55795365..55823930)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BRSK1 confers cisplatin resistance in cervical cancer cells via regulation of mitochondrial respiration.
Title: BRSK1 confers cisplatin resistance in cervical cancer cells via regulation of mitochondrial respiration.
Relationship between BRSK1 rs12611091 variant and age at natural menopause based on physical activity.
Title: Relationship between BRSK1 rs12611091 variant and age at natural menopause based on physical activity.
These results suggest that frameshift mutations of EGR1 and BRSK1 might play a role in tumorigenesis through tumor suppressor gene inactivation in colorectal cancer and gastric cancer.
Title: Putative Tumor Suppressor Genes EGR1 and BRSK1 Are Mutated in Gastric and Colorectal Cancers.
BRSK1 is a novel tumor suppressor in breast cancer which inversely correlated with Jab1 expression.
Title: Decreased expression and prognostic role of cytoplasmic BRSK1 in human breast carcinoma: correlation with Jab1 stability and PI3K/Akt pathway.
Single nucleotide polymorphism in BRSK1 is associated with the length of reproductive lifespan.
Title: Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe Study.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.
SADB kinase activity controls centrosome homeostasis by regulating phosphorylation of gamma-tubulin.
Title: SADB phosphorylation of gamma-tubulin regulates centrosome duplication.
STRADalpha.MO25alpha complexes containing LKB1 variants were equally effective at phosphorylating and activating AMPK, BRSK1, and BRSK2
Title: C-terminal phosphorylation of LKB1 is not required for regulation of AMP-activated protein kinase, BRSK1, BRSK2, or cell cycle arrest.
protein phosphatase 2C is a likely candidate for catalyzing the dephosphorylation and inactivation of BRSK1/2.
Title: Investigating the regulation of brain-specific kinases 1 and 2 by phosphorylation.
acts as checkpoint kinase upon DNA damage induced by UV
Title: Human SAD1 kinase is involved in UV-induced DNA damage checkpoint function.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation 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
involved_in G2/M transition of mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
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 chromatin remodeling	IEA Inferred from Electronic Annotation 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 mitotic cell cycle checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
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	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
involved_in regulation of synaptic vesicle priming	IEA Inferred from Electronic Annotation more info
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 cholinergic synapse	IEA Inferred from Electronic Annotation 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 postsynaptic density	IEA Inferred from Electronic Annotation more info
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

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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

EC 2.7.11.1

EC 2.7.11.26

NCBI Reference Sequences (RefSeq)

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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)

NM_032430.2 → NP_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:314 → 367

UBA_BRSK; UBA domain found in serine/threonine-protein kinase BRSK1, BRSK2 and similar proteins

cd14081
Location:32 → 285

STKc_BRSK1_2; Catalytic domain of Brain-specific serine/threonine-protein kinases 1 and 2