BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex [Homo sapiens (human)] - Gene

Summary

Official Symbol: BRK1provided by HGNC
Official Full Name: BRICK1 subunit of SCAR/WAVE actin nucleating complexprovided by HGNC
Primary source: HGNC:HGNC:23057
See related: Ensembl:ENSG00000254999 MIM:611183; AllianceGenome:HGNC:23057
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: MDS027; hHBrk1; C3orf10; HSPC300
Summary: Enables identical protein binding activity. Contributes to small GTPase binding activity. Involved in Rac protein signal transduction and positive regulation of cellular component organization. Located in extracellular exosome. Part of SCAR complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in fat (RPKM 95.9), kidney (RPKM 81.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p25.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (10115675..10127190)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (10107895..10119411)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (10157359..10168874)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sp1 transcriptionally regulates BRK1 expression in non-small cell lung cancer cells.
Title: Sp1 transcriptionally regulates BRK1 expression in non-small cell lung cancer cells.
We verified that NRF-1 positively regulates FAM134C and ENOX1, and negatively regulates C3orf10 in human neuroblastoma IMR-32 cells and primary rat cortical neurons.
Title: Novel genes FAM134C, C3orf10 and ENOX1 are regulated by NRF-1 and differentially regulate neurite outgrowth in neuroblastoma cells and hippocampal neurons.
Data show that Brk1 downregulation results in defective directional migration and invasive growth in renal cell carcinoma cells as well as in other tumor cell types.
Title: Brick1 is an essential regulator of actin cytoskeleton required for embryonic development and cell transformation.
higher expression in primary lung tumours with lymph node metastases and also in tumours from patients with more advanced disease
Title: Metastatic potential of lung squamous cell carcinoma associated with HSPC300 through its interaction with WAVE2.
Growing body of evidence suggesting that patients with VHL syndrome caused by large VHL deletions that include C3orf10 may be designated as having a specific subtype (Type 1B) of the disorder.
Title: Genotype-phenotype correlations in VHL exon deletions.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genotype-phenotype correlations in VHL exon deletions.
Von Hippel-Lindau (VHL) locus deletion of the HSPC300 actin regulator gene greatly lowers risk of clear cell renal cell carcinoma development in Spanish VHL syndrome patients studied.
Title: Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients.

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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

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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Markers

RH41855 (e-PCR)
- UniSTS:89383

RH78271 (e-PCR)
- UniSTS:11391

Brk1 (e-PCR), detects polymorphism
- UniSTS:547979

WI-14152 (e-PCR)
- UniSTS:81407

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to small GTPase binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Rac protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament organization	IEA Inferred from Electronic Annotation more info
involved_in cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of Arp2/3 complex-mediated actin nucleation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of lamellipodium assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of lamellipodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein-containing complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of actin polymerization or depolymerization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of SCAR complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SCAR complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in lamellipodium	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: protein BRICK1

Names: BRICK1, SCAR/WAVE actin nucleating complex subunit; haematopoietic stem/progenitor cell protein 300

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.