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BRK1 (BRICK1, SCAR/WAVE actin nucleating complex subunit)

Identity

Alias_namesC3orf10
chromosome 3 open reading frame 10
BRICK1, SCAR/WAVE actin-nucleating complex subunit
Alias_symbol (synonym)MDS027
HSPC300
Other aliashHBrk1
HGNC (Hugo) BRK1
LocusID (NCBI) 55845
Atlas_Id 52231
Location 3p25.3  [Link to chromosome band 3p25]
Location_base_pair Starts at 10157333 and ends at 10168874 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BRK1 (3p25.3) / GRHL2 (8q22.3)BRK1 (3p25.3) / POLR3C (1q21.1)BRK1 (3p25.3) / PTP4A2 (1p35.2)
BRK1 (3p25.3) / SIM1 (6q16.3)BRK1 (3p25.3) / SLC2A4RG (20q13.33)BRK1 (3p25.3) / SUSD6 (14q24.1)
BRK1 (3p25.3) / VHL (3p25.3)KDM3B (5q31.2) / BRK1 (3p25.3)LDLR (19p13.2) / BRK1 (3p25.3)
PDXDC1 (16p13.11) / BRK1 (3p25.3)SUSD6 (14q24.1) / BRK1 (3p25.3)BRK1 3p25.3 / PTP4A2 1p35.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)BRK1   23057
Cards
Entrez_Gene (NCBI)BRK1  55845  BRICK1, SCAR/WAVE actin nucleating complex subunit
AliasesC3orf10; HSPC300; MDS027; hHBrk1
GeneCards (Weizmann)BRK1
Ensembl hg19 (Hinxton)ENSG00000254999 [Gene_View]  chr3:10157333-10168874 [Contig_View]  BRK1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000254999 [Gene_View]  chr3:10157333-10168874 [Contig_View]  BRK1 [Vega]
ICGC DataPortalENSG00000254999
TCGA cBioPortalBRK1
AceView (NCBI)BRK1
Genatlas (Paris)BRK1
WikiGenes55845
SOURCE (Princeton)BRK1
Genetics Home Reference (NIH)BRK1
Genomic and cartography
GoldenPath hg19 (UCSC)BRK1  -     chr3:10157333-10168874 +  3p25.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BRK1  -     3p25.3   [Description]    (hg38-Dec_2013)
EnsemblBRK1 - 3p25.3 [CytoView hg19]  BRK1 - 3p25.3 [CytoView hg38]
Mapping of homologs : NCBIBRK1 [Mapview hg19]  BRK1 [Mapview hg38]
OMIM611183   
Gene and transcription
Genbank (Entrez)AF161418 AF220047 AK290580 AK312155 AY148219
RefSeq transcript (Entrez)NM_018462
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)BRK1
Cluster EST : UnigeneHs.649307 [ NCBI ]
CGAP (NCI)Hs.649307
Alternative Splicing GalleryENSG00000254999
Gene ExpressionBRK1 [ NCBI-GEO ]   BRK1 [ EBI - ARRAY_EXPRESS ]   BRK1 [ SEEK ]   BRK1 [ MEM ]
Gene Expression Viewer (FireBrowse)BRK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55845
GTEX Portal (Tissue expression)BRK1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WUW1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WUW1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WUW1
Splice isoforms : SwissVarQ8WUW1
PhosPhoSitePlusQ8WUW1
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)BRK1
DMDM Disease mutations55845
Blocks (Seattle)BRK1
PDB (SRS)3P8C    4N78   
PDB (PDBSum)3P8C    4N78   
PDB (IMB)3P8C    4N78   
PDB (RSDB)3P8C    4N78   
Structural Biology KnowledgeBase3P8C    4N78   
SCOP (Structural Classification of Proteins)3P8C    4N78   
CATH (Classification of proteins structures)3P8C    4N78   
SuperfamilyQ8WUW1
Human Protein AtlasENSG00000254999
Peptide AtlasQ8WUW1
HPRD12818
IPIIPI00021496   
Protein Interaction databases
DIP (DOE-UCLA)Q8WUW1
IntAct (EBI)Q8WUW1
FunCoupENSG00000254999
BioGRIDBRK1
STRING (EMBL)BRK1
ZODIACBRK1
Ontologies - Pathways
QuickGOQ8WUW1
Ontology : AmiGOin utero embryonic development  protein binding  cytosol  cytoskeleton  positive regulation of cell proliferation  positive regulation of lamellipodium assembly  Rac protein signal transduction  lamellipodium  actin cytoskeleton organization  SCAR complex  protein complex binding  Fc-gamma receptor signaling pathway involved in phagocytosis  vascular endothelial growth factor receptor signaling pathway  Rac GTPase binding  cell motility  extracellular exosome  protein homotrimerization  positive regulation of Arp2/3 complex-mediated actin nucleation  
Ontology : EGO-EBIin utero embryonic development  protein binding  cytosol  cytoskeleton  positive regulation of cell proliferation  positive regulation of lamellipodium assembly  Rac protein signal transduction  lamellipodium  actin cytoskeleton organization  SCAR complex  protein complex binding  Fc-gamma receptor signaling pathway involved in phagocytosis  vascular endothelial growth factor receptor signaling pathway  Rac GTPase binding  cell motility  extracellular exosome  protein homotrimerization  positive regulation of Arp2/3 complex-mediated actin nucleation  
Pathways : KEGGRegulation of actin cytoskeleton   
NDEx NetworkBRK1
Atlas of Cancer Signalling NetworkBRK1
Wikipedia pathwaysBRK1
Orthology - Evolution
OrthoDB55845
GeneTree (enSembl)ENSG00000254999
Phylogenetic Trees/Animal Genes : TreeFamBRK1
HOVERGENQ8WUW1
HOGENOMQ8WUW1
Homologs : HomoloGeneBRK1
Homology/Alignments : Family Browser (UCSC)BRK1
Gene fusions - Rearrangements
Fusion : MitelmanBRK1/PTP4A2 [3p25.3/1p35.2]  
Fusion : MitelmanBRK1/VHL [3p25.3/3p25.3]  [t(3;3)(p25;p25)]  
Fusion: TCGABRK1 3p25.3 PTP4A2 1p35.2 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBRK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BRK1
dbVarBRK1
ClinVarBRK1
1000_GenomesBRK1 
Exome Variant ServerBRK1
ExAC (Exome Aggregation Consortium)BRK1 (select the gene name)
Genetic variants : HAPMAP55845
Genomic Variants (DGV)BRK1 [DGVbeta]
DECIPHER (Syndromes)3:10157333-10168874  ENSG00000254999
CONAN: Copy Number AnalysisBRK1 
Mutations
ICGC Data PortalBRK1 
TCGA Data PortalBRK1 
Broad Tumor PortalBRK1
OASIS PortalBRK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBRK1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBRK1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BRK1
DgiDB (Drug Gene Interaction Database)BRK1
DoCM (Curated mutations)BRK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BRK1 (select a term)
intoGenBRK1
Cancer3DBRK1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611183   
Orphanet
MedgenBRK1
Genetic Testing Registry BRK1
NextProtQ8WUW1 [Medical]
TSGene55845
GENETestsBRK1
Huge Navigator BRK1 [HugePedia]
snp3D : Map Gene to Disease55845
BioCentury BCIQBRK1
ClinGenBRK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55845
Chemical/Pharm GKB GenePA134866423
Clinical trialBRK1
Miscellaneous
canSAR (ICR)BRK1 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBRK1
EVEXBRK1
GoPubMedBRK1
iHOPBRK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:57:51 CET 2017

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