Human Gene BCAR1 (uc002fdv.3) Description and Page Index
Description: Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA. RefSeq Summary (NM_014567): 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]. Transcript (Including UTRs) Position: hg19 chr16:75,262,928-75,285,526 Size: 22,599 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chr16:75,263,409-75,285,380 Size: 21,972 Coding Exon Count: 7
ID:BCAR1_HUMAN DESCRIPTION: RecName: Full=Breast cancer anti-estrogen resistance protein 1; AltName: Full=CRK-associated substrate; AltName: Full=Cas scaffolding protein family member 1; AltName: Full=p130cas; FUNCTION: Docking protein which plays a central coordinating role for tyrosine kinase-based signaling related to cell adhesion. Implicated in induction of cell migration. Overexpression confers antiestrogen resistance on breast cancer cells. SUBUNIT: Forms complexes in vivo with PTK2/FAK1, adapter protein CRKL and LYN kinase. Can heterodimerize with NEDD9. Interacts with BCAR3, NPHP1 and SH2D3C (By similarity). Interacts with activated CSPG4. Interacts with BMX, INPPL1/SHIP2 and PEAK1. Part of a collagen-stimulated complex involved in cell migration made of CDC42, CRK, TNK2 and BCAR1/p130cas. Interacts with TNK2 via SH3 domains. Interacts with PTK2B/PYK2. INTERACTION: P46108:CRK; NbExp=2; IntAct=EBI-702093, EBI-886; O15357:INPPL1; NbExp=2; IntAct=EBI-702093, EBI-1384248; Q9C0H9:SRCIN1; NbExp=3; IntAct=EBI-702093, EBI-1393949; Q9QWI6:Srcin1 (xeno); NbExp=3; IntAct=EBI-702093, EBI-775592; Q04205:TNS (xeno); NbExp=2; IntAct=EBI-702093, EBI-2607590; Q68CZ2:TNS3; NbExp=8; IntAct=EBI-702093, EBI-1220488; SUBCELLULAR LOCATION: Cell junction, focal adhesion. Cytoplasm. Note=Unphosphorylated form localizes in the cytoplasm and can move to the membrane upon tyrosine phosphorylation (By similarity). TISSUE SPECIFICITY: Widely expressed with an abundant expression in the testis. Low level of expression seen in the liver, thymus, and peripheral blood leukocytes. The protein has been detected in a B-cell line. DOMAIN: Contains a central domain (substrate domain) containing multiple potential SH2-binding sites and a C-terminal domain containing a divergent helix-loop-helix (HLH) motif. The SH2- binding sites putatively bind CRK, NCK and ABL1 SH2 domains. The HLH motif is absolutely required for the induction of pseudohyphal growth in yeast and mediates heterodimerization with NEDD9 (By similarity). DOMAIN: A serine-rich region promotes activation of the serum response element (SRE). DOMAIN: The SH3 domain is necessary for the localization of the protein to focal adhesions and interacts with one proline-rich region of PTK2/FAK11. PTM: PTK2/FAK1 activation mediates phosphorylation at the YDYVHL motif; phosphorylation is most likely catalyzed by SRC family members. SRC-family kinases are recruited to the phosphorylated sites and can phosphorylate other tyrosine residues. Tyrosine phosphorylation is triggered by integrin-mediated adhesion of cells to the extracellular matrix. SIMILARITY: Belongs to the CAS family. SIMILARITY: Contains 1 SH3 domain.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): BCAR1 CDC HuGE Published Literature: BCAR1 Positive Disease Associations: Pancreatic Neoplasms Related Studies:
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P56945
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AK124526 - Homo sapiens cDNA FLJ42535 fis, clone BRACE3003595, highly similar to Breast cancer anti-estrogen resistance protein 1. AK026121 - Homo sapiens cDNA: FLJ22468 fis, clone HRC10347, highly similar to AB040024 Homo sapiens hp130Cas mRNA for adaptor protein p130Cas. BC014402 - Homo sapiens, Similar to breast cancer anti-estrogen resistance 1, clone IMAGE:3506960, mRNA, partial cds. BC062556 - Homo sapiens breast cancer anti-estrogen resistance 1, mRNA (cDNA clone MGC:71216 IMAGE:6427808), complete cds. AJ242987 - Homo sapiens mRNA for breast cancer anti-estrogen resistance 1 protein (BCAR1 gene). AK125719 - Homo sapiens cDNA FLJ43731 fis, clone TESTI1000391, highly similar to Breast cancer anti-estrogen resistance protein 1. AK124844 - Homo sapiens cDNA FLJ42854 fis, clone BRHIP2008607, highly similar to Breast cancer anti-estrogen resistance protein 1. AK074958 - Homo sapiens cDNA FLJ90477 fis, clone NT2RP3002738, weakly similar to Homo sapiens enhancer of filamentation (HEF1) mRNA. AB040024 - Homo sapiens hp130Cas mRNA for adaptor protein p130Cas, complete cds. AK124815 - Homo sapiens cDNA FLJ42825 fis, clone BRCAN2016619, highly similar to Breast cancer anti-estrogen resistance protein 1. AK302617 - Homo sapiens cDNA FLJ55908 complete cds, highly similar to Breast cancer anti-estrogen resistance protein 1. AF218451 - Homo sapiens Crk-associated substrate p130Cas mRNA, complete cds. AK027608 - Homo sapiens cDNA FLJ14702 fis, clone NT2RP3000299, moderately similar to Rattus norvegicus mRNA for Crk-associated substrate, p130. JD081968 - Sequence 62992 from Patent EP1572962. JD109823 - Sequence 90847 from Patent EP1572962. AK293808 - Homo sapiens cDNA FLJ56057 complete cds, highly similar to Breast cancer anti-estrogen resistance protein 1. JD194546 - Sequence 175570 from Patent EP1572962. JD070892 - Sequence 51916 from Patent EP1572962. JD103369 - Sequence 84393 from Patent EP1572962. JD382318 - Sequence 363342 from Patent EP1572962. JD486997 - Sequence 468021 from Patent EP1572962. JD100808 - Sequence 81832 from Patent EP1572962. JD373052 - Sequence 354076 from Patent EP1572962. JD459055 - Sequence 440079 from Patent EP1572962. JD338321 - Sequence 319345 from Patent EP1572962. JD342573 - Sequence 323597 from Patent EP1572962. JD080004 - Sequence 61028 from Patent EP1572962. JD269388 - Sequence 250412 from Patent EP1572962. JD464515 - Sequence 445539 from Patent EP1572962. AK294513 - Homo sapiens cDNA FLJ55930 complete cds, highly similar to Breast cancer anti-estrogen resistance protein 1. AK295809 - Homo sapiens cDNA FLJ55515 complete cds, highly similar to Breast cancer anti-estrogen resistanceprotein 1. JD118413 - Sequence 99437 from Patent EP1572962. JD220666 - Sequence 201690 from Patent EP1572962. JD135246 - Sequence 116270 from Patent EP1572962. AY545071 - Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1) mRNA, complete cds, alternatively spliced. EU831404 - Synthetic construct Homo sapiens clone HAIB:100066433; DKFZo008A0217 breast cancer anti-estrogen resistance 1 protein (BCAR1) gene, encodes complete protein. AK314722 - Homo sapiens cDNA, FLJ95582, highly similar to Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1),mRNA. EU831496 - Synthetic construct Homo sapiens clone HAIB:100066525; DKFZo004A0218 breast cancer anti-estrogen resistance 1 protein (BCAR1) gene, encodes complete protein. AB587546 - Synthetic construct DNA, clone: pF1KE1059, Homo sapiens BCAR1 gene for breast cancer anti-estrogen resistance 1, without stop codon, in Flexi system. JD335798 - Sequence 316822 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04062 - Chemokine signaling pathway hsa04510 - Focal adhesion hsa04670 - Leukocyte transendothelial migration hsa04810 - Regulation of actin cytoskeleton hsa05100 - Bacterial invasion of epithelial cells