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BCR breakpoint cluster region [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_021574 Homo sapiens breakpoint cluster region (BCR), transcript variant 2, mRNA. Full Length $3057.75
ORF Sequence $1289.40
NM_004327 Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA. Full Length $3117.15
ORF Sequence $1335.60


Gene Symbol BCR
Entrez Gene ID 613
Full Name breakpoint cluster region
Synonyms ALL, BCR1, CML, D22S11, D22S662, FLJ16453, PHL
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

22

22q11|22q11.23
Summary 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 protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq].
Disorder

MIM: 151410

Leukemia, chronic myeloid, 608232 (3); Leukemia, acute lymphocytic,
mRNA NM_021574, 82546844
Protein NP_067585, 82546845
Product breakpoint cluster region protein isoform 2
RefSeq Status REVIEWED
mRNA NM_004327, 82546842
Protein NP_004318, 82546843
Product breakpoint cluster region protein isoform 1
RefSeq Status REVIEWED
KEGG
hsa05200Pathways in cancer
hsa05220Chronic myeloid leukemia
Pathway Interaction Database
rhoa_reg_pathwayRegulation of RhoA activity
rac1_reg_pathwayRegulation of RAC1 activity
Reactome
REACT_11044Signaling by Rho GTPases
REACT_11051Rho GTPase cycle
Homo sapiens (human)BCRNP_004318.3
Canis lupus familiaris (dog)BCRXP_848654.1
Bos taurus (cattle)BCRXP_001256514.1
Mus musculus (house mouse)BcrNP_001074881.1
Rattus norvegicus (Norway rat)BcrXP_228091.4
Gallus gallus (chicken)BCRXP_415244.2
Danio rerio (zebrafish)bcrXP_696735.2
Process
IDNameEvidence
GO:0006468protein phosphorylationIEA
GO:0007165signal transductionTAS
GO:0007264small GTPase mediated signal transductionTAS
GO:0035023regulation of Rho protein signal transductionIEA
GO:0043547positive regulation of GTPase activityTAS
GO:0051056regulation of small GTPase mediated signal transductionTAS
Component
IDNameEvidence
GO:0005622intracellularIEA
GO:0005829cytosolTAS
Function
IDNameEvidence
GO:0000166nucleotide bindingIEA
GO:0004674protein serine/threonine kinase activityIEA
GO:0005085guanyl-nucleotide exchange factor activityIEA
GO:0005089Rho guanyl-nucleotide exchange factor activityIEA
GO:0005096GTPase activator activityTAS
GO:0005524ATP bindingIEA
GO:0016301kinase activityIEA
GO:0016740transferase activityIEA
GeneCards BCR
PDB 2AIN, 1K1F
UniProt P11274
MIM 151410
Ensembl ENSG00000186716
HGNC 1014
HPRD 01044

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