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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]
BCAR1 (BCAR1 Scaffold Protein, Cas Family Member) is a Protein Coding gene. Diseases associated with BCAR1 include Estrogen Resistance and Nephronophthisis 1. Among its related pathways are Signaling by GPCR and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling. Gene Ontology (GO) annotations related to this gene include protein kinase binding and SH3 domain binding. An important paralog of this gene is NEDD9.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 9285683 |
GO:0017124 | SH3 domain binding | IEA | -- |
GO:0019901 | protein kinase binding | IPI | 8070403 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001726 | ruffle | IDA | 9472046 |
GO:0005737 | cytoplasm | IBA,IDA | 8070403 |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | colocalizes_with plasma membrane | IDA | 21245381 |
GO:0005925 | focal adhesion | IDA,ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling | ||
2 | Focal Adhesion |
.61
.61
|
|
3 | Sertoli-Sertoli Cell Junction Dynamics |
Germ Cell-Sertoli Cell Junction Dynamics
.38
Sertoli-Sertoli Cell Junction Dynamics
.38
|
Epithelial Tight Junctions
.36
|
4 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
|
Transendothelial Migration of Leukocytes
.38
|
5 | Integrin alphaIIb beta3 signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001558 | regulation of cell growth | TAS | 11607844 |
GO:0007015 | actin filament organization | IDA | 16105984 |
GO:0007155 | cell adhesion | IEA | -- |
GO:0007165 | signal transduction | IEA | -- |
GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | IBA | 21873635 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BCAR1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BCAR1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BCAR1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bcar1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Bcar1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BCAR1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BCAR1 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bcar1 30 |
|
||
Str.15275 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68466 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | bcar1 30 31 |
|
OneToOne | |
Dr.4707 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | p130CAS 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6681 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
712848 | Benign: not provided | 75,233,868(-) | T/C | MISSENSE_VARIANT | |
713188 | Benign: not provided | 75,235,831(-) | C/T | SYNONYMOUS_VARIANT | |
748970 | Likely Benign: not provided | 75,229,820(-) | G/A | SYNONYMOUS_VARIANT | |
768795 | Likely Benign: not provided | 75,235,064(-) | G/A | MISSENSE_VARIANT | |
768796 | Benign: not provided | 75,235,832(-) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3582321 | CNV | loss | 25503493 |
esv3582322 | CNV | loss | 25503493 |
nsv149 | OTHER | inversion | 15895083 |
nsv471095 | CNV | loss | 18288195 |
nsv516504 | CNV | gain+loss | 19592680 |
nsv523405 | CNV | loss | 19592680 |
nsv7286 | OTHER | inversion | 18451855 |
nsv833282 | CNV | gain+loss | 17160897 |
nsv9459 | CNV | gain | 18304495 |
nsv978002 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
estrogen resistance |
|
|
nephronophthisis 1 |
|
|
cystic kidney disease |
|
|
differentiating neuroblastoma |
|
|
cerebral hypoxia |
|
|