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Aliases for BRK1 Gene

Aliases for BRK1 Gene

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

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, SCAR/WAVE Actin Nucleating Complex Subunit) is a Protein Coding gene. Among its related pathways are Immune System and Regulation of actin dynamics for phagocytic cup formation. GO annotations related to this gene include protein complex binding and Rac GTPase binding.

UniProtKB/Swiss-Prot for BRK1 Gene

  • Involved in regulation of actin and microtubule organization. Part of a WAVE complex that activates the Arp2/3 complex.

Gene Wiki entry for BRK1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BRK1 Gene

Genomics for BRK1 Gene

Regulatory Elements for BRK1 Gene

Enhancers for BRK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F010114 1.1 ENCODE 28.6 +0.4 432 2.4 HDGF PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 BRK1 FANCD2 LINC00852 GC03P010136
GH03F009975 1.4 Ensembl ENCODE 16.3 -137.4 -137379 4.8 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A ZNF2 FOS KLF13 SMARCB1 THUMPD3-AS1 FANCD2 ENSG00000269894 BRK1 PRRT3 CIDECP IL17RE RPUSD3 VHL JAGN1
GH03F010024 1.2 ENCODE 16.7 -89.3 -89340 2.7 PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 SRGAP3-AS3 FANCD2OS BRK1 ATP2B2-IT1 ENSG00000230599 RNU6-882P CRELD1 FANCD2 CYCSP10 ATP2B2-IT2
GH03F009954 1.1 Ensembl ENCODE 16.3 -159.8 -159820 1.6 TBP PKNOX1 FEZF1 RAD21 GATA2 ZNF366 ZNF391 FOS CEBPB ZEB2 THUMPD3-AS1 BRK1 RAD18 FANCD2 ENSG00000269894 ENSG00000269982 PRRT3
GH03F009985 1.1 ENCODE 15.7 -128.5 -128460 2.5 ARNT CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 ZNF207 RNU6-882P BRK1 FANCD2 RNU6-670P FANCD2OS PRRT3 RPUSD3 GHRL TTLL3 CRELD1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BRK1 on UCSC Golden Path with GeneCards custom track

Promoters for BRK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001357084 308 1801 HDGF PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for BRK1 Gene

Chromosome:
3
Start:
10,115,592 bp from pter
End:
10,127,190 bp from pter
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; 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 Lys 31, Lys 53, and Lys 70
  • 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

Protein Domains for BRK1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BRK1 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for BRK1 Gene

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.

Gene Ontology (GO) - Molecular Function for BRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24439377
GO:0032403 protein complex binding IDA 18560548
GO:0048365 contributes_to Rac GTPase binding IDA 21107423
genes like me logo Genes that share ontologies with BRK1: view
genes like me logo Genes that share phenotypes with BRK1: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 5
cytoskeleton 4
cytosol 4

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 IDA 21107423
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

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:0008284 positive regulation of cell proliferation IEA --
GO:0010592 positive regulation of lamellipodium assembly IMP 18560548
GO:0016601 Rac protein signal transduction IDA 21107423
genes like me logo Genes that share ontologies with BRK1: view

No data available for SIGNOR curated interactions for BRK1 Gene

Transcripts for BRK1 Gene

mRNA/cDNA for BRK1 Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(582) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BRK1 Gene

BRICK1, SCAR/WAVE actin-nucleating complex subunit:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for BRK1 Gene

GeneLoc Exon Structure for
BRK1
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for BRK1 Gene



Protein tissue co-expression partners for BRK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BRK1 Gene:

BRK1

SOURCE GeneReport for Unigene cluster for BRK1 Gene:

Hs.649307
genes like me logo Genes that share expression patterns with BRK1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 100 (n)
cow
(Bos Taurus)
Mammalia C22H3ORF10 35
  • 99 (a)
OneToOne
BRK1 34
  • 93.33 (n)
mouse
(Mus musculus)
Mammalia Brk1 34 16 35
  • 94.67 (n)
dog
(Canis familiaris)
Mammalia LOC607701 34
  • 94.22 (n)
BRK1 35
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Brk1 34
  • 93.78 (n)
oppossum
(Monodelphis domestica)
Mammalia BRK1 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia brk1 34
  • 82.67 (n)
Str.6199 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.10906 34
zebrafish
(Danio rerio)
Actinopterygii BRK1 35
  • 80 (a)
OneToOne
zgc:86903 34
  • 74.67 (n)
Dr.13925 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8986 34
fruit fly
(Drosophila melanogaster)
Insecta HSPC300 34 35
  • 68 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007614 34
  • 67.57 (n)
Species where no ortholog for BRK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

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

Sequence variations from dbSNP and Humsavar for BRK1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs111284032 -- 10,124,225(+) CAAGG(C/T)GGGCG intron-variant
rs111392288 -- 10,114,697(+) TGGGT(A/G)GATCA upstream-variant-2KB
rs111400010 -- 10,120,344(+) CACAC(A/G)CAACC intron-variant
rs111421854 -- 10,114,520(+) AAAAA(-/T)AGTAA upstream-variant-2KB
rs111463051 -- 10,125,842(+) TCCCA(C/G)CACTT intron-variant

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

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

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)

Relevant External Links for BRK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BRK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRK1 Gene

Disorders for BRK1 Gene

Relevant External Links for BRK1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BRK1

No disorders were found for BRK1 Gene.

No data available for MalaCards , 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 M.K. (Nature 2010) 3 4 64
  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 64
  3. Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location. (PMID: 14695531) Maranchie J.K. … Linehan W.M. (Hum. Mutat. 2004) 2 3 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3 64

Products for BRK1 Gene

Sources for BRK1 Gene

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