We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Enzymes FDA approved drug targets Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
22
Cytoband
q11.23
Chromosome location (bp)
23179704 - 23318037
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein (GAP) domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intrinsic rate of GTP hydrolysis of RAC1 or CDC42, leading to down-regulation of the active GTP-bound form 1,2,3. The central Dbl homology (DH) domain functions as guanine nucleotide exchange factor (GEF) that modulates the GTPases CDC42, RHOA and RAC1. Promotes the conversion of CDC42, RHOA and RAC1 from the GDP-bound to the GTP-bound form 4,5. The amino terminus contains an intrinsic kinase activity 6. Functions as an important negative regulator of neuronal RAC1 activity (By similarity). Regulates macrophage functions such as CSF1-directed motility and phagocytosis through the modulation of RAC1 activity 7. Plays a major role as a RHOA GEF in keratinocytes being involved in focal adhesion formation and keratinocyte differentiation 8....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
P11274 [Direct mapping] Breakpoint cluster region protein
Show all
Enzymes ENZYME proteins Transferases Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0002692[negative regulation of cellular extravasation] GO:0003014[renal system process] GO:0004674[protein serine/threonine kinase activity] GO:0004713[protein tyrosine kinase activity] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005096[GTPase activator activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006468[protein phosphorylation] GO:0006909[phagocytosis] GO:0007165[signal transduction] GO:0007264[small GTPase mediated signal transduction] GO:0007420[brain development] GO:0014069[postsynaptic density] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016477[cell migration] GO:0016740[transferase activity] GO:0018108[peptidyl-tyrosine phosphorylation] GO:0030036[actin cytoskeleton organization] GO:0030216[keratinocyte differentiation] GO:0030424[axon] GO:0032496[response to lipopolysaccharide] GO:0032991[protein-containing complex] GO:0035023[regulation of Rho protein signal transduction] GO:0035556[intracellular signal transduction] GO:0042472[inner ear morphogenesis] GO:0042995[cell projection] GO:0043114[regulation of vascular permeability] GO:0043197[dendritic spine] GO:0043312[neutrophil degranulation] GO:0043314[negative regulation of neutrophil degranulation] GO:0043547[positive regulation of GTPase activity] GO:0045202[synapse] GO:0048041[focal adhesion assembly] GO:0048872[homeostasis of number of cells] GO:0050728[negative regulation of inflammatory response] GO:0050766[positive regulation of phagocytosis] GO:0050804[modulation of chemical synaptic transmission] GO:0050885[neuromuscular process controlling balance] GO:0051056[regulation of small GTPase mediated signal transduction] GO:0051171[regulation of nitrogen compound metabolic process] GO:0051649[establishment of localization in cell] GO:0051726[regulation of cell cycle] GO:0060216[definitive hemopoiesis] GO:0060268[negative regulation of respiratory burst] GO:0060313[negative regulation of blood vessel remodeling] GO:0065002[intracellular protein transmembrane transport] GO:0070062[extracellular exosome] GO:0071222[cellular response to lipopolysaccharide] GO:0090630[activation of GTPase activity] GO:0098685[Schaffer collateral - CA1 synapse] GO:0098978[glutamatergic synapse] GO:0106310[protein serine kinase activity] GO:1905517[macrophage migration] GO:1905522[negative regulation of macrophage migration] GO:2000378[negative regulation of reactive oxygen species metabolic process]
P11274 [Direct mapping] Breakpoint cluster region protein
Show all
Enzymes ENZYME proteins Transferases Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
H0Y554 [Direct mapping] Breakpoint cluster region protein
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005096[GTPase activator activity] GO:0035556[intracellular signal transduction] GO:0043547[positive regulation of GTPase activity]
The Human Protein Atlas project is funded
