BCR breakpoint cluster region [Homo sapiens (human)] - Gene

Summary

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Official Symbol: BCRprovided by HGNC
Official Full Name: breakpoint cluster regionprovided by HGNC
Primary source: HGNC:1014
See related: Ensembl:ENSG00000186716; HPRD:01044; MIM:151410; Vega:OTTHUMG00000150655
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ALL; CML; PHL; BCR1; D22S11; D22S662
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]

Genomic context

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Location :: 22q11.23

Sequence :: Chromosome: 22; NC_000022.10 (23522552..23660224)

See BCR in Epigenomics, MapViewer

Chromosome 22 - NC_000022.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

miR-29b may function as a tumor suppressor by targeting ABL1 and BCR/ABL1.
Title: miR-29b suppresses CML cell proliferation and induces apoptosis via regulation of BCR/ABL1 protein.
BCR-ABL is critically involved in the leukemia-specific expression of DR4 and DR5 and in the susceptibility of Ph(+) leukemia to TRAIL-mediated anti-leukemic activity.
Title: BCR-ABL regulates death receptor expression for TNF-related apoptosis-inducing ligand (TRAIL) in Philadelphia chromosome-positive leukemia.
Insulin-specific 125Tg transgenic B cells support T cell-mediated type 1 diabetes in NOD mice, despite being anergic to B cell mitogens and T cell-dependent immunization.
Title: Tolerant anti-insulin B cells are effective APCs.
study demonstrates kinetics of different BCR-ABL1 mutant emergence and an association between BCR-ABL1 mutations and progression of chronic myeloid leukemia
Title: Emerging kinetics of BCR-ABL1 mutations and their effect on disease outcomes in chronic myeloid leukemia patients with imatinib failure.
BCR-ABL1 kinase inhibits uracil DNA glycosylase UNG2 to enhance oxidative DNA damage and stimulate genomic instability in chronic myeloid leukemia.
Title: BCR-ABL1 kinase inhibits uracil DNA glycosylase UNG2 to enhance oxidative DNA damage and stimulate genomic instability.
A novel mRNA in-frame fusion between exon 4 of the breakpoint cluster region (BCR) gene at chromosome 22q11 and exon 9 of FGFR1 gene on chromosome 8p11-12 was identified by reverse transcription polymerase chain reaction
Title: A case of 8p11 myeloproliferative syndrome with BCR-FGFR1 gene fusion presenting with trilineage acute leukemia/lymphoma, successfully treated by cord blood transplantation.
miR-30a acts as a tumor suppressor by downregulating ABL1 and BCR-ABL1 expression.
Title: Decreased microRNA-30a levels are associated with enhanced ABL1 and BCR-ABL1 expression in chronic myeloid leukemia.
We conclude that compound mutations are common in patients with sequencing evidence for 2 BCR-ABL1 mutations and frequently reflect a highly complex clonal network.
Title: BCR-ABL1 compound mutations in tyrosine kinase inhibitor-resistant CML: frequency and clonal relationships.
TC48 dephosphorylates BCR-Abl but not c-Abl and inhibits its activity towards its substrate.
Title: The tyrosine phosphatase TC48 interacts with and inactivates the oncogenic fusion protein BCR-Abl but not cellular Abl.
Highly resistant BCR-ABL T315I mutation is associated with response to therapy in leukemia.
Title: MK-0457, an Aurora kinase and BCR-ABL inhibitor, is active in patients with BCR-ABL T315I leukemia.

Submit: New GeneRIF Correction See all (188)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Genome-wide association study of antibody response to smallpox vaccine.

Many sequence variants affecting diversity of adult human height.

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
AAA35594.1	NP_004318.2	BCR	BIND	PubMed	p210 Bcr-Abl phosphorylates p160 Bcr.
AAA35594.1	NP_002077.1	GRB2	BIND	PubMed	Grb2 interacts with Bcr-Abl.
AAA35594.1	NP_002077.1	GRB2	BIND	PubMed	Tyrosine phosphorylated Bcr-Abl interacts with Grb2.
AAA35594.1	NP_002825.3	PTPN11	BIND	PubMed	Phosphorylated p210bcr-abl interacts with phosphorylated Syp. This interaction was modeled on a demonstrated interaction between human p210bcr-abl and mouse Syp.
NP_004318.2	NP_009297.1	ABL1	BIND	PubMed	BCR interacts with c-Abl. This interaction was modeled on a demonstrated interaction between BCR from an unspecified source and human c-Abl.
NP_004318.2	NP_009298.1	ABL2	BIND	PubMed	BCR interacts with ARG. This interaction was modeled on a demonstrated interaction between BCR from an unspecified source and human ARG.
NP_004318.2	NP_002651.2	PLCG1	BIND	PubMed	BCR interacts with PLCgamma1. This interaction was modeled on a demonstrated interaction between BCR from an unspecified source and bovine PLCgamma1.
NP_004318.2	NP_002881.1	RASA1	BIND	PubMed	BCR interacts with GAP. This interaction was modeled on a demonstrated interaction between BCR from an unspecified source and human GAP.
NP_004318.2	NP_005408.1	SRC	BIND	PubMed	BCR interacts with Src. This interaction was modeled on a demonstrated interaction between BCR from an unspecified source and Src from Rous Sarcoma virus.
P11274	P00519	ABL1	HPRD	PubMed
P11274	P42684	ABL2	HPRD	PubMed
P11274	O96018	APBA3	HPRD	PubMed
P11274	P11274	BCR	HPRD	PubMed
P11274	P51451	BLK	HPRD	PubMed
P11274	P46108	CRK	HPRD	PubMed
P11274	P46109	CRKL	HPRD	PubMed
P11274	Q12959	DLG1	HPRD	PubMed
P11274	P19447	ERCC3	HPRD	PubMed
P11274	P07332	FES	HPRD	PubMed
P11274	Q13322	GRB10	HPRD	PubMed
P11274	P62993	GRB2	HPRD	PubMed
P11274	P08631	HCK	HPRD	PubMed
P11274	P20823	HNF1A	HPRD	PubMed
P11274	Q96ID5	IGSF21	HPRD	PubMed
P11274	P35568	IRS1	HPRD	PubMed
P11274	O60674	JAK2	HPRD	PubMed
P11274	Q9Y4K4	MAP4K5	HPRD	PubMed
P11274	P55196	MLLT4	HPRD	PubMed
P11274	P19174	PLCG1	HPRD	PubMed
P11274	P18031	PTPN1	HPRD	PubMed
P11274	Q06124	PTPN11	HPRD	PubMed
P11274	P29350	PTPN6	HPRD	PubMed
P11274	P20936	RASA1	HPRD	PubMed
P11274	P31947	SFN	HPRD	PubMed
P11274	P29353	SHC1	HPRD	PubMed
P11274	P12931	SRC	HPRD	PubMed
P11274	P04637	TP53	HPRD	PubMed
P11274	Q13432	UNC119	HPRD	PubMed
P11274	P15498	VAV1	HPRD	PubMed
P11274	P31946	YWHAB	HPRD	PubMed
P11274	P62258	YWHAE	HPRD	PubMed
P11274	P61981	YWHAG	HPRD	PubMed
P11274	Q04917	YWHAH	HPRD	PubMed
P11274	P27348	YWHAQ	HPRD	PubMed
P11274	P63104	YWHAZ	HPRD	PubMed
BioGRID:107083	BioGRID:106543	ABL1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107083	BioGRID:107587	AP2M1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107083	BioGRID:107315	CBL	BioGRID	PubMed	Affinity Capture-MS; Biochemical Activity; Reconstituted Complex
BioGRID:107083	BioGRID:107433	CDC42	BioGRID	PubMed	Reconstituted Complex
BioGRID:107083	BioGRID:107506	CFTR	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107083	BioGRID:107788	CRK	BioGRID	PubMed	Affinity Capture-MS; Reconstituted Complex
BioGRID:107083	BioGRID:107789	CRKL	BioGRID	PubMed	Affinity Capture-Western; Far Western; Two-hybrid
BioGRID:107083	BioGRID:120997	ERBB2IP	BioGRID	PubMed	Affinity Capture-Western; Protein-peptide
BioGRID:107083	BioGRID:108383	ERCC3	BioGRID	PubMed	Affinity Capture-MS; Far Western; Two-hybrid
BioGRID:107083	BioGRID:108533	FES	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107083	BioGRID:115181	GAB2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107083	BioGRID:108843	GABRR1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107083	BioGRID:109144	GRB10	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107083	BioGRID:109142	GRB2	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Far Western; Reconstituted Complex; Two-hybrid
BioGRID:107083	BioGRID:109127	GRK5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107083	BioGRID:251380	Grasp	BioGRID	PubMed	Two-hybrid
BioGRID:107083	BioGRID:200045	Grb10	BioGRID	PubMed	Two-hybrid
BioGRID:107083	BioGRID:109305	HCK	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107083	BioGRID:109338	HIF1A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107083	BioGRID:109445	HOXA9	BioGRID	PubMed	Phenotypic Enhancement
BioGRID:107083	BioGRID:109552	HSP90AA1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107083	BioGRID:109544	HSPA8	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107083	BioGRID:124396	IGSF21	BioGRID	PubMed	Two-hybrid
BioGRID:107083	BioGRID:109777	IL3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107083	BioGRID:109847	INPP5D	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107083	BioGRID:110015	KIT	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107083	BioGRID:124219	LNX1	BioGRID	PubMed	Two-hybrid
BioGRID:107083	BioGRID:122823	LRRK1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107083	BioGRID:110447	MLLT4	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid
BioGRID:107083	BioGRID:110694	MYC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107083	BioGRID:111312	PIK3CG	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107083	BioGRID:111314	PIK3R2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107083	BioGRID:111742	PTPN6	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107083	BioGRID:111787	PXN	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107083	BioGRID:111817	RAC1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107083	BioGRID:111860	RB1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107083	BioGRID:106880	RHOA	BioGRID	PubMed	Reconstituted Complex
BioGRID:107083	BioGRID:112361	SHC1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107083	BioGRID:112537	SOS1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107083	BioGRID:115563	STUB1	BioGRID	PubMed	Biochemical Activity
BioGRID:107083	BioGRID:113010	TP53	BioGRID	PubMed	Two-hybrid
BioGRID:107083	BioGRID:113102	TSG101	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107083	BioGRID:124390	UBASH3B	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107083	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:107083	BioGRID:114548	UNC119	BioGRID	PubMed	Two-hybrid
BioGRID:107083	BioGRID:119341	VPS28	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107083	BioGRID:121649	WDR48	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Chronic myeloid leukemia, organism-specific biosystem (from KEGG)
Chronic myeloid leukemia, organism-specific biosystemChronic myelogenous leukemia (CML) originates in a pluripotent hematopoetic stem cell of the bone marrow and is characterized by greatly increased numbers of granulocytes in the blood. Myeloid and ot...
Chronic myeloid leukemia, conserved biosystem (from KEGG)
Chronic myeloid leukemia, conserved biosystemChronic myelogenous leukemia (CML) originates in a pluripotent hematopoetic stem cell of the bone marrow and is characterized by greatly increased numbers of granulocytes in the blood. Myeloid and ot...
Disease, organism-specific biosystem (from REACTOME)
Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
Pathways in cancer, organism-specific biosystem (from KEGG)
Pathways in cancer, organism-specific biosystem
Pathways in cancer
Regulation of RAC1 activity, organism-specific biosystem (from Pathway Interaction Database)
Regulation of RAC1 activity, organism-specific biosystem
Regulation of RAC1 activity
Regulation of RhoA activity, organism-specific biosystem (from Pathway Interaction Database)
Regulation of RhoA activity, organism-specific biosystem
Regulation of RhoA activity
Rho GTPase cycle, organism-specific biosystem (from REACTOME)
Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling by FGFR in disease, organism-specific biosystem (from REACTOME)
Signaling by FGFR in disease, organism-specific biosystemThe pathway 'Signaling by FGFR in disease' shows 'Signaling by FGFR mutants' in parallel with the wild-type pathway 'Signaling by FGFR', allowing users to compare disease and normal events. FGFR mut...
Signaling by FGFR mutants, organism-specific biosystem (from REACTOME)
Signaling by FGFR mutants, organism-specific biosystemA number of skeletal and developmental diseases have been shown to arise as a result of mutations in the FGFR1, 2 and 3 genes. These include dwarfism syndromes (achondroplasia, hypochondroplasia and...
Signaling by FGFR1 fusion mutants, organism-specific biosystem (from REACTOME)
Signaling by FGFR1 fusion mutants, organism-specific biosystem8p11 myeloproliferative syndrome (EMS) is an aggressive disorder that is associated with a translocation event at the FGFR1 gene on chromosome 8p11. Typical symptoms upon diagnosis include eosinophi...
Signaling by FGFR1 mutants, organism-specific biosystem (from REACTOME)
Signaling by FGFR1 mutants, organism-specific biosystemThe FGFR1 gene has been shown to be subject to activating mutations, chromosomal rearrangements and gene amplification leading to a variety of proliferative and developmental disorders depending on w...
Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

General gene information

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Markers

RH80432 (e-PCR)
- UniSTS:90373

STS-H69004 (e-PCR)
- UniSTS:30987

RH11197 (e-PCR)
- UniSTS:83988

RH27788 (e-PCR)
- UniSTS:90901

SHGC-170331 (e-PCR)
- UniSTS:183582

D11S2560 (e-PCR)
- UniSTS:37928

RH66855 (e-PCR)
- UniSTS:67886

G20484 (e-PCR)
- UniSTS:18482

A005T29 (e-PCR)
- UniSTS:18483

GDB:193184 (e-PCR)
- UniSTS:155741

SHGC-9196 (e-PCR)
- UniSTS:36972

D15S1477 (e-PCR)
- UniSTS:474482

GDB:181503 (e-PCR)
- UniSTS:155250

GDB:181505 (e-PCR)
- UniSTS:155251

BCR (e-PCR)
- UniSTS:504182

D22S257 (e-PCR), detects polymorphism
- UniSTS:13973

D22S257 (e-PCR), detects polymorphism
- UniSTS:13974

SHGC-85827 (e-PCR)
- UniSTS:103830

A009L29 (e-PCR)
- UniSTS:44967

G60279 (e-PCR)
- UniSTS:137384

D22S1027 (e-PCR)
- UniSTS:56750

BCR_4443 (e-PCR)
- UniSTS:462775

D22S1100E (e-PCR)
- UniSTS:147386

GDB:451800 (e-PCR)
- UniSTS:157371

GDB:177065 (e-PCR)
- UniSTS:154819

SHGC-30277 (e-PCR)
- UniSTS:21720

GDB:452640 (e-PCR)
- UniSTS:157404

GDB:631802 (e-PCR)
- UniSTS:158429

GDB:190907 (e-PCR)
- UniSTS:155631

G32654 (e-PCR)
- UniSTS:117236

RH70541 (e-PCR)
- UniSTS:28151

Genotypes

See BCR SNP Geneview Report
See BCR SNP Genotype Report
See BCR SNP Variation Viewer Report

Homology

Homologs of the BCR gene: The BCR gene is conserved in chimpanzee, Rhesus monkey, dog, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
GTPase activator activity	TAS Traceable Author Statement more info	PubMed
Rac GTPase activator activity	IEA Inferred from Electronic Annotation more info
Rho guanyl-nucleotide exchange factor activity	IEA Inferred from Electronic Annotation more info
enzyme binding	IEA Inferred from Electronic Annotation more info
kinase activity	TAS Traceable Author Statement more info
phospholipid binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info
protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
protein tyrosine kinase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
brain development	IEA Inferred from Electronic Annotation more info
inner ear morphogenesis	IEA Inferred from Electronic Annotation more info
negative regulation of cell migration	IEA Inferred from Electronic Annotation more info
negative regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
negative regulation of neutrophil degranulation	IEA Inferred from Electronic Annotation more info
neuromuscular process controlling balance	IEA Inferred from Electronic Annotation more info
platelet-derived growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
positive regulation of phagocytosis	IEA Inferred from Electronic Annotation more info
protein autophosphorylation	IEA Inferred from Electronic Annotation more info
protein phosphorylation	TAS Traceable Author Statement more info	PubMed
regulation of cell cycle	IEA Inferred from Electronic Annotation more info
regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info
response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
signal transduction	TAS Traceable Author Statement more info	PubMed
small GTPase mediated signal transduction	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytosol	TAS Traceable Author Statement more info
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: breakpoint cluster region protein

Names: breakpoint cluster region protein; BCR/FGFR1 chimera protein; FGFR1/BCR chimera protein; renal carcinoma antigen NY-REN-26

NP_004318.3

EC 2.7.11.1

NP_067585.2

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009244.1 RefSeqGene

Range

5001..142673

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004327.3 → NP_004318.3 breakpoint cluster region protein isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

BC066122, BQ422888, U07000, X02596

Consensus CDS

CCDS13806.1

UniProtKB/Swiss-Prot

P11274

Related

ENSP00000303507, OTTHUMP00000028949, ENST00000305877, OTTHUMT00000075819

Conserved Domains (7) summary

cd00160
Location:499 – 689
Blast Score: 319

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd04387
Location:1052 – 1252
Blast Score: 806

RhoGAP_Bcr; RhoGAP_Bcr: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Bcr (breakpoint cluster region protein)-like proteins. Bcr is a multidomain protein with a variety of enzymatic functions. It contains a RhoGAP and a Rho GEF domain, ...

pfam09036
Location:2 – 72
Blast Score: 353

Bcr-Abl_Oligo; Bcr-Abl oncoprotein oligomerisation domain

cd08686
Location:913 – 1033
Blast Score: 570

C2_ABR; C2 domain in the Active BCR (Breakpoint cluster region) Related protein

cd01228
Location:707 – 767
Blast Score: 306

PH_BCR-related; BCR (breakpoint cluster region)-related pleckstrin homology (PH) domain

smart00324
Location:1067 – 1230
Blast Score: 431

RhoGAP; GTPase-activator protein for Rho-like GTPases

cl00273
Location:830 – 867
Blast Score: 178

PH-like; Pleckstrin homology-like domain
NM_021574.2 → NP_067585.2 breakpoint cluster region protein isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

BC066122, BQ422888, U07000, Y00661

Consensus CDS

CCDS13807.1

UniProtKB/Swiss-Prot

P11274

Conserved Domains (7) summary

cd00160
Location:499 – 689
Blast Score: 321

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd04387
Location:1008 – 1208
Blast Score: 806

RhoGAP_Bcr; RhoGAP_Bcr: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Bcr (breakpoint cluster region protein)-like proteins. Bcr is a multidomain protein with a variety of enzymatic functions. It contains a RhoGAP and a Rho GEF domain, ...

pfam09036
Location:2 – 72
Blast Score: 354

Bcr-Abl_Oligo; Bcr-Abl oncoprotein oligomerisation domain

cd01228
Location:707 – 767
Blast Score: 306

PH_BCR-related; BCR (breakpoint cluster region)-related pleckstrin homology (PH) domain

smart00324
Location:1023 – 1186
Blast Score: 431

RhoGAP; GTPase-activator protein for Rho-like GTPases

cl00273
Location:830 – 867
Blast Score: 178

PH-like; Pleckstrin homology-like domain

cl14603
Location:913 – 989
Blast Score: 333

C2; C2 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000022.10 Reference GRCh37.p10 Primary Assembly

Range

23522552..23660224

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000154.1 Alternate HuRef

Range

6461675..6627574

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018933.1 Alternate CHM1_1.0

Range

7480801..7617523

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01055103.1 (17384..45921)	None
genomic	ABBA01055104.1	None
genomic	ABBA01055105.1	None
genomic	ABBA01055106.1	None
genomic	AMYH01012640.1 (36224..36421)	None
genomic	AMYH01012641.1	None
genomic	CH471095.1	EAW59564.1
		EAW59565.1
		EAW59566.1
		EAW59567.1
		EAW59568.1
		EAW59569.1
		EAW59570.1
genomic	L02935.1	None
genomic	M15025.1	AAA35594.1
genomic	M55395.1	None
genomic	U07000.1	AAB60388.1
		AAB60389.1
		AAB60390.1
genomic	X52828.1	CAA37010.1
genomic	X52829.1	CAA37011.1
mRNA	AB209991.1	BAE06073.1
mRNA	AB742170.1	BAM36291.1
mRNA	AB742171.1	BAM36292.1
mRNA	AF192533.1	AAF61858.1
mRNA	AF487522.1	AAL99544.1
mRNA	AK122842.1	None
mRNA	AK124310.1	None
mRNA	AK128501.1	None
mRNA	AK303241.1	BAG64327.1
mRNA	AM491360.1	CAM33010.1
mRNA	AY533677.1	AAS57923.1
mRNA	AY536245.1	AAS46907.1
mRNA	AY536246.1	AAS46908.1
mRNA	AY536247.1	AAS46909.1
mRNA	AY536248.1	AAS46910.1
mRNA	AY536249.1	AAS46911.1
mRNA	AY536250.1	AAS46912.1
mRNA	BC031568.1	None
mRNA	BC041705.1	None
mRNA	BC053641.1	None
mRNA	BC063619.1	None
mRNA	BC066122.1	None
mRNA	BC071742.1	None
mRNA	BC083493.1	AAH83493.1
mRNA	BQ422888.1	None
mRNA	EU216058.1	ABX82700.1
mRNA	EU216059.1	ABX82701.1
mRNA	EU216061.1	ABX82703.1
mRNA	EU216062.1	ABX82704.1
mRNA	EU216063.1	ABX82705.1
mRNA	EU216064.1	ABX82706.1
mRNA	EU216067.1	ABX82709.1
mRNA	EU216069.1	ABX82711.1
mRNA	EU216070.1	ABX82712.1
mRNA	EU394718.1	ABZ01959.1
mRNA	HQ622706.1	ADU04570.1
mRNA	M17542.1	AAA35595.1
mRNA	M64437.1	AAN76489.1
mRNA	X02596.1	CAA26441.1
mRNA	X06418.1	CAA29726.1
mRNA	X14676.1	CAA32806.1
mRNA	Y00661.1	CAA68676.1
other-genetic	BC169208.1	None