BCAR1 BCAR1 scaffold protein, Cas family member
Gene ID: 9564, updated on 2-Nov-2024Gene type: protein coding
Also known as: CAS; CAS1; CASS1; CRKAS; P130Cas
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- Go to complete Gene record for BCAR1
- Go to Variation Viewer for BCAR1 variants
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. [provided by RefSeq, Sep 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. GeneReviews: Not available | |
| Multidimensional prognostic risk assessment identifies association between IL12B variation and surgery in Crohn's disease. GeneReviews: Not available |
Genomic context
- Location:
- 16q23.1
- Sequence:
- Chromosome: 16; NC_000016.10 (75228181..75268007, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BCAR1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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