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

2011-06-01  

Identity

HGNC
BRK1
LOCATION
3p25.3
LOCUSID
55845
ALIAS
C3orf10,HSPC300,MDS027,hHBrk1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55845
MIM: 611183
HGNC: 23057
Ensembl: ENSG00000254999

Variants:

dbSNP: 55845
ClinVar: 55845
TCGA: ENSG00000254999
COSMIC: BRK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000254999ENST00000530758Q8WUW1

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Regulation of actin cytoskeletonKEGGko04810
Regulation of actin cytoskeletonKEGGhsa04810
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosisREACTOMER-HSA-2029480
Regulation of actin dynamics for phagocytic cup formationREACTOMER-HSA-2029482
Signal TransductionREACTOMER-HSA-162582
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate WASPs and WAVEsREACTOMER-HSA-5663213

References

Pubmed IDYearTitleCitations
197640262009Genotype-phenotype correlations in VHL exon deletions.17
197640262009Genotype-phenotype correlations in VHL exon deletions.17
173113012007Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients.12
208611872010Brick1 is an essential regulator of actin cytoskeleton required for embryonic development and cell transformation.12
239394722013Novel genes FAM134C, C3orf10 and ENOX1 are regulated by NRF-1 and differentially regulate neurite outgrowth in neuroblastoma cells and hippocampal neurons.7
195766552009Metastatic potential of lung squamous cell carcinoma associated with HSPC300 through its interaction with WAVE2.3
246807732014Sp1 transcriptionally regulates BRK1 expression in non-small cell lung cancer cells.3

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2011-06-01

Online version: http://atlasgeneticsoncology.org/gene/52231/brk1