Gene: BCAR1

Alternate names for this Gene: CAS|CAS1|CASS1|CRKAS|P130Cas

Gene Summary: The protein encoded by this gene is a member of the Crk-associated substrate (CAS) family of scaffold proteins, characterized by the presence of multiple protein-protein interaction domains and many serine and tyrosine phosphorylation sites. The encoded protein contains a Src-homology 3 (SH3) domain, a proline-rich domain, a substrate domain which contains 15 repeat of the YxxP consensus phosphorylation motif for Src family kinases, a serine-rich domain, and a bipartite Src-binding domain, which can bind both SH2 and SH3 domains. This adaptor protein functions in multiple cellular pathways, including in cell motility, apoptosis and cell cycle control. Dysregulation of this gene can have a wide range of effects, affecting different pathways, including cardiac development, vascular smooth muscle cells, liver and kidney function, endothelial migration, and cancer.

Gene is located in Chromosome: 16

Location in Chromosome : 16q23.1

Description of this Gene: BCAR1 scaffold protein, Cas family member

Type of Gene: protein-coding

rs4888362 in BCAR1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs16957552 in BCAR1 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs7190458 in BCAR1 gene and Pancreatic carcinoma PMID 29422604 2018 Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer.

PMID 25086665 2014 Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.

rs1035539 in BCAR1 gene and Pancreatitis, Alcoholic PMID 28754779 2018 Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis.

rs16957552 in BCAR1 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs16957552 in BCAR1 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs16957552 in BCAR1 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.