InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: BCR

Summary

InnateDB Gene

IDBG-2349.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BCR

Gene Name

breakpoint cluster region

Synonyms

ALL; BCR1; CML; D22S11; D22S662; PHL

Species

Homo sapiens

Ensembl Gene

ENSG00000186716

Encoded Proteins

IDBP-2351

breakpoint cluster region

IDBP-2353

breakpoint cluster region

IDBP-232844

breakpoint cluster region

IDBP-366001

breakpoint cluster region

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 22:23179704-23318037

Strand

Forward strand

Band

q11.23

Transcripts

ENST00000305877	ENSP00000303507
ENST00000359540	ENSP00000352535
ENST00000398512	ENSP00000381524
ENST00000458056
ENST00000436990
ENST00000419722
ENST00000427791	ENSP00000396531
ENST00000479188
ENST00000463770
ENST00000487679
ENST00000480973
ENST00000487968
ENST00000466076
ENST00000471452
ENST00000478978
ENST00000475025

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 93 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	93 [view]
Protein-Protein	92 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004674	protein serine/threonine kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0005089	Rho guanyl-nucleotide exchange factor activity
GO:0005096	GTPase activator activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016301	kinase activity
GO:0019899	enzyme binding
GO:0030675	Rac GTPase activator activity

Biological Process

GO:0006468	protein phosphorylation
GO:0007165	signal transduction
GO:0007264	small GTPase mediated signal transduction
GO:0007420	brain development
GO:0018108	peptidyl-tyrosine phosphorylation
GO:0030036	actin cytoskeleton organization
GO:0030336	negative regulation of cell migration
GO:0032321	positive regulation of Rho GTPase activity
GO:0032496	response to lipopolysaccharide
GO:0032855	positive regulation of Rac GTPase activity
GO:0035023	regulation of Rho protein signal transduction
GO:0035556	intracellular signal transduction
GO:0042472	inner ear morphogenesis
GO:0043314	negative regulation of neutrophil degranulation
GO:0046777	protein autophosphorylation
GO:0048008	platelet-derived growth factor receptor signaling pathway
GO:0050728	negative regulation of inflammatory response
GO:0050766	positive regulation of phagocytosis
GO:0050885	neuromuscular process controlling balance
GO:0051056	regulation of small GTPase mediated signal transduction
GO:0051726	regulation of cell cycle

Cellular Component

GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0043234	protein complex
GO:0070062	extracellular vesicular exosome