Aliases for BRK1 Gene

Aliases for BRK1 Gene

  • BRICK1 Subunit Of SCAR/WAVE Actin Nucleating Complex 2 3 5
  • BRICK1, SCAR/WAVE Actin Nucleating Complex Subunit 2 3
  • Haematopoietic Stem/Progenitor Cell Protein 300 2 3
  • Protein BRICK1 3 4
  • C3orf10 3 4
  • HSPC300 2 3
  • MDS027 2 3
  • BRICK1, SCAR/WAVE Actin-Nucleating Complex Subunit, Homolog (Arabidopsis Thaliana) 2
  • BRICK1, SCAR/WAVE Actin-Nucleating Complex Subunit 2
  • Chromosome 3 Open Reading Frame 10 2
  • HHBrk1 3
  • BRK1 5

External Ids for BRK1 Gene

Previous HGNC Symbols for BRK1 Gene

  • C3orf10

Previous GeneCards Identifiers for BRK1 Gene

  • GC03P010162
  • GC03P010163
  • GC03P010164
  • GC03P010165
  • GC03P010166
  • GC03P010167

Summaries for BRK1 Gene

GeneCards Summary for BRK1 Gene

BRK1 (BRICK1 Subunit Of SCAR/WAVE Actin Nucleating Complex) is a Protein Coding gene. Diseases associated with BRK1 include Cataract 40 and Spinocerebellar Ataxia, Autosomal Recessive 3. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include Rac GTPase binding.

UniProtKB/Swiss-Prot Summary for BRK1 Gene

  • Involved in regulation of actin and microtubule organization. Part of a WAVE complex that activates the Arp2/3 complex. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity).

Gene Wiki entry for BRK1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BRK1 Gene

Genomics for BRK1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BRK1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BRK1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BRK1

Genomic Locations for BRK1 Gene

Latest Assembly
chr3:10,115,675-10,127,190
(GRCh38/hg38)
Size:
11,516 bases
Orientation:
Plus strand

Previous Assembly
chr3:10,157,359-10,168,874
(GRCh37/hg19 by Entrez Gene)
Size:
11,516 bases
Orientation:
Plus strand

chr3:10,157,276-10,168,874
(GRCh37/hg19 by Ensembl)
Size:
11,599 bases
Orientation:
Plus strand

Genomic View for BRK1 Gene

Genes around BRK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BRK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BRK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BRK1 Gene

Proteins for BRK1 Gene

  • Protein details for BRK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WUW1-BRK1_HUMAN
    Recommended name:
    Protein BRICK1
    Protein Accession:
    Q8WUW1
    Secondary Accessions:
    • B2R5E2
    • Q9P082

    Protein attributes for BRK1 Gene

    Size:
    75 amino acids
    Molecular mass:
    8745 Da
    Quaternary structure:
    • Homotrimer when in free form. Directly interacts with WASF2. Component of the WAVE1 complex composed of ABI2, CYFIP1 or CYFIP2, BRK1, NCKAP1 and WASF1/WAVE1. Within the complex, a heterodimer containing NCKAP1 and CYFIP1 interacts with a heterotrimer formed by WAVE1, ABI2 and BRK1.
    SequenceCaution:
    • Sequence=AAF28978.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BRK1 Gene

    Alternative splice isoforms for BRK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BRK1 Gene

Post-translational modifications for BRK1 Gene

  • Ubiquitination at Lys31, Lys53, and Lys70
  • Modification sites at PhosphoSitePlus

Other Protein References for BRK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BRK1 Gene

Domains & Families for BRK1 Gene

Gene Families for BRK1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BRK1 Gene

InterPro:

Suggested Antigen Peptide Sequences for BRK1 Gene

GenScript: Design optimal peptide antigens:
  • Protein BRICK1 (BRK1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WUW1

UniProtKB/Swiss-Prot:

BRK1_HUMAN :
  • Belongs to the BRK1 family.
Family:
  • Belongs to the BRK1 family.
genes like me logo Genes that share domains with BRK1: view

Function for BRK1 Gene

Molecular function for BRK1 Gene

UniProtKB/Swiss-Prot Function:
Involved in regulation of actin and microtubule organization. Part of a WAVE complex that activates the Arp2/3 complex. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity).

Phenotypes From GWAS Catalog for BRK1 Gene

Gene Ontology (GO) - Molecular Function for BRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18560548
GO:0031267 contributes_to small GTPase binding IDA 21107423
GO:0042802 identical protein binding IDA 18560548
GO:0044877 protein-containing complex binding IPI 18560548
genes like me logo Genes that share ontologies with BRK1: view
genes like me logo Genes that share phenotypes with BRK1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BRK1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BRK1 Gene

Localization for BRK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRK1 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BRK1 gene
Compartment Confidence
extracellular 4
cytoskeleton 4
cytosol 4
plasma membrane 2
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0030027 lamellipodium IEA,ISS --
GO:0031209 SCAR complex IBA,IDA 18560548
genes like me logo Genes that share ontologies with BRK1: view

Pathways & Interactions for BRK1 Gene

genes like me logo Genes that share pathways with BRK1: view

Pathways by source for BRK1 Gene

1 GeneGo (Thomson Reuters) pathway for BRK1 Gene
  • G-protein signaling RAC1 in cellular process
1 Qiagen pathway for BRK1 Gene
  • Rac1 Pathway

SIGNOR curated interactions for BRK1 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0007015 actin filament organization IEA --
GO:0008064 regulation of actin polymerization or depolymerization IBA 21873635
GO:0008284 positive regulation of cell proliferation IEA --
GO:0010592 positive regulation of lamellipodium assembly IDA,IMP 18560548
genes like me logo Genes that share ontologies with BRK1: view

Drugs & Compounds for BRK1 Gene

No Compound Related Data Available

Transcripts for BRK1 Gene

mRNA/cDNA for BRK1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BRK1

Alternative Splicing Database (ASD) splice patterns (SP) for BRK1 Gene

No ASD Table

Relevant External Links for BRK1 Gene

GeneLoc Exon Structure for
BRK1

Expression for BRK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BRK1 Gene

Protein differential expression in normal tissues from HIPED for BRK1 Gene

This gene is overexpressed in Breast (10.9), Bone (7.7), Fetal Brain (7.5), and Peripheral blood mononuclear cells (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BRK1 Gene



Protein tissue co-expression partners for BRK1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BRK1

SOURCE GeneReport for Unigene cluster for BRK1 Gene:

Hs.649307

Evidence on tissue expression from TISSUES for BRK1 Gene

  • Nervous system(4.3)
  • Blood(4.2)
  • Lung(4)
genes like me logo Genes that share expression patterns with BRK1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BRK1 Gene

Orthologs for BRK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BRK1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BRK1 29 30
  • 100 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia C22H3ORF10 30
  • 99 (a)
OneToOne
BRK1 29
  • 93.33 (n)
Mouse
(Mus musculus)
Mammalia Brk1 29 16 30
  • 94.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC607701 29
  • 94.22 (n)
BRK1 30
  • 70 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Brk1 29
  • 93.78 (n)
Oppossum
(Monodelphis domestica)
Mammalia BRK1 30
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia brk1 29
  • 82.67 (n)
Str.6199 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.10906 29
Zebrafish
(Danio rerio)
Actinopterygii BRK1 30
  • 80 (a)
OneToOne
zgc:86903 29
  • 74.67 (n)
Dr.13925 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8986 29
Fruit Fly
(Drosophila melanogaster)
Insecta HSPC300 29 30
  • 68 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007614 29
  • 67.57 (n)
Species where no ortholog for BRK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for BRK1 Gene

ENSEMBL:
Gene Tree for BRK1 (if available)
TreeFam:
Gene Tree for BRK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BRK1: view image
Alliance of Genome Resources:
Additional Orthologs for BRK1

Paralogs for BRK1 Gene

Pseudogenes.org Pseudogenes for BRK1 Gene

genes like me logo Genes that share paralogs with BRK1: view

No data available for Paralogs for BRK1 Gene

Variants for BRK1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BRK1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for BRK1 Gene

Variant ID Type Subtype PubMed ID
dgv762e201 CNV deletion 23290073
esv3595259 CNV loss 21293372
esv4117 OTHER complex 18987735
nsv1073204 CNV deletion 25765185
nsv1121603 CNV deletion 24896259
nsv436362 CNV deletion 17901297
nsv436869 CNV insertion 17901297

Variation tolerance for BRK1 Gene

Residual Variation Intolerance Score: 53.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.23; 5.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BRK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BRK1
Leiden Open Variation Database (LOVD)
BRK1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BRK1 Gene

Disorders for BRK1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for BRK1 Gene - From: COP

Disorder Aliases PubMed IDs
cataract 40
  • ctrct40
spinocerebellar ataxia, autosomal recessive 3
  • scar3
hemangioma of lung
  • pulmonary hemangioma
retinal hemangioblastoma
- elite association - COSMIC cancer census association via MalaCards
Search BRK1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BRK1

genes like me logo Genes that share disorders with BRK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BRK1 Gene

Publications for BRK1 Gene

  1. Structure and control of the actin regulatory WAVE complex. (PMID: 21107423) Chen Z … Rosen MK (Nature 2010) 3 4
  2. Free Brick1 is a trimeric precursor in the assembly of a functional wave complex. (PMID: 18560548) Derivery E … Gautreau A (PloS one 2008) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location. (PMID: 14695531) Maranchie JK … Linehan WM (Human mutation 2004) 2 3
  5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3

Products for BRK1 Gene

Sources for BRK1 Gene