MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP000303

UniProt Annotations

Entry Information
Gene Namebreakpoint cluster region
Protein EntryBCR_HUMAN
UniProt IDP11274
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P11274-1; Sequence=Displayed; Name=2; IsoId=P11274-2; Sequence=VSP_024352; Note=No experimental confirmation available.;
Catalytic ActivityATP + a protein = ADP + a phosphoprotein.
DiseaseLeukemia, chronic myeloid (CML) [MIM:608232]: A clonal myeloproliferative disorder of a pluripotent stem cell with a specific cytogenetic abnormality, the Philadelphia chromosome (Ph), involving myeloid, erythroid, megakaryocytic, B-lymphoid, and sometimes T-lymphoid cells, but not marrow fibroblasts. Note=The gene represented in this entry is involved in disease pathogenesis.
DiseaseNote=A chromosomal aberration involving BCR has been found in patients with chronic myeloid leukemia. Translocation t(9;22)(q34;q11) with ABL1. The translocation produces a BCR-ABL found also in acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL).
DomainThe DH domain is involved in interaction with CCPG1. {ECO:0000250}.
DomainThe region involved in binding to ABL1 SH2-domain is rich in serine residues and needs to be Ser/Thr phosphorylated prior to SH2 binding. This region is essential for the activation of the ABL1 tyrosine kinase and transforming potential of the chimeric BCR-ABL oncogene.
FunctionGTPase-activating protein for RAC1 and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them. Displays serine/threonine kinase activity. {ECO:0000269|PubMed:1657398, ECO:0000269|PubMed:1903516}.
InteractionP62993:GRB2; NbExp=8; IntAct=EBI-712838, EBI-401755; P18031:PTPN1; NbExp=3; IntAct=EBI-8658094, EBI-968788; Q9H2K2:TNKS2; NbExp=3; IntAct=EBI-712838, EBI-4398527; P04637:TP53; NbExp=2; IntAct=EBI-712838, EBI-366083;
PtmAutophosphorylated. Phosphorylated by FES/FPS on tyrosine residues, leading to down-regulation of the BCR kinase activity. Phosphorylation at Tyr-177 by HCK is important for interaction with GRB2. {ECO:0000269|PubMed:15144186, ECO:0000269|PubMed:15302586, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:19690332, ECO:0000269|PubMed:21406692, ECO:0000269|PubMed:9407116}.
Sequence CautionSequence=BAE06073.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityContains 1 C2 domain. {ECO:0000255|PROSITE- ProRule:PRU00041}.
SimilarityContains 1 DH (DBL-homology) domain. {ECO:0000255|PROSITE-ProRule:PRU00062}.
SimilarityContains 1 PH domain. {ECO:0000255|PROSITE- ProRule:PRU00145}.
SimilarityContains 1 Rho-GAP domain. {ECO:0000255|PROSITE- ProRule:PRU00172}.
Subcellular LocationCell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q6PAJ1}.
SubunitHomotetramer. Interacts with PDZK1. May interact with CCPG1 (By similarity). Interacts with FES/FPS, ABL1, PIK3R1 and GRB2. Interacts with HCK. Interacts with SH2D5 (PubMed:25331951). {ECO:0000250|UniProtKB:Q6PAJ1, ECO:0000269|PubMed:15302586, ECO:0000269|PubMed:15494376, ECO:0000269|PubMed:1712671, ECO:0000269|PubMed:25331951, ECO:0000269|PubMed:9407116}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BCR.html";
  logo