BCAR3 breast cancer anti-estrogen resistance 3 [Homo sapiens] - Gene

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Summary

Official Symbol: BCAR3provided by HGNC
Official Full Name: breast cancer anti-estrogen resistance 3provided by HGNC
Primary source: HGNC:973
Locus tag: RP5-1033H22.1
See related: Ensembl:ENSG00000137936; HPRD:05268; MIM:604704; Vega:OTTHUMG00000010301
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: NSP2; SH2D3B; KIAA0554
Summary: Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

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Genomic context

Location :: 1p22.1

Sequence :: Chromosome: 1; NC_000001.10 (94027348..94147385, complement)

See BCAR3 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

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

BCAR3-p130Cas complex formation is not required for BCAR3-mediated anti-estrogen resistance, Rac activation or discohesion of epithelial breast cancer cells
Title: BCAR3/AND-34 can signal independent of complex formation with CAS family members or the presence of p130Cas.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
the c-Src/Cas/BCAR3 signaling axis is a prominent regulator of c-Src activity, which in turn controls cell behaviors that lead to aggressive and invasive breast tumor phenotypes
Title: BCAR3 regulates Src/p130 Cas association, Src kinase activity, and breast cancer adhesion signaling.
The expression of breast cancer anti-estrogen resistance 3 results in basal serine phosphorylation of Crk-Associated Substrate Protein that normally occurs during adhesion of breast cancer cells to fibronectin.
Title: AND-34/BCAR3 regulates adhesion-dependent p130Cas serine phosphorylation and breast cancer cell growth pattern.
BCAR3 protein, through its SH2 domain, is involved in the signaling pathways of EGF leading to cell cycle progression; BCAR3 itself is part of a mitogenic signaling pathway.
Title: BCAR3 regulates EGF-induced DNA synthesis in normal human breast MCF-12A cells.
BCAR3 induces anti-estrogen resistance in breast tumor cell lines by altering cell-cell/cell-matrix interactions and cyclin D1 promoter activity.
Title: AND-34/BCAR3 differs from other NSP homologs in induction of anti-estrogen resistance, cyclin D1 promoter activation and altered breast cancer cell morphology.
AND-34 activates phosphatidylinositol 3-kinase and induces anti-estrogen resistance in a SH2 and GDP exchange factor-like domain-dependent manner
Title: AND-34 activates phosphatidylinositol 3-kinase and induces anti-estrogen resistance in a SH2 and GDP exchange factor-like domain-dependent manner.
the spatial and temporal regulation of BCAR3/p130(Cas) interactions within the cell is important for controlling breast cancer cell motility
Title: Breast cancer antiestrogen resistance-3 expression regulates breast cancer cell migration through promotion of p130Cas membrane localization and membrane ruffling.
BCAR3 and NSP1 are more highly expressed than SH2D3C (SHEP1) in breast cancer cells, and the expression patterns suggest differential roles for the three genes during breast cancer progression.
Title: Splice variants and expression patterns of SHEP1, BCAR3 and NSP1, a gene family involved in integrin and receptor tyrosine kinase signaling.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
O75815	Q14511	NEDD9	HPRD	PubMed
BioGRID:114000	BioGRID:114934	BCAR1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114000	BioGRID:109605	IARS	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114000	BioGRID:109828	IMPDH2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114000	BioGRID:110816	NEDD9	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114000	BioGRID:117939	PABPC1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114000	BioGRID:112760	TARS	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
guanyl-nucleotide exchange factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
response to drug	TAS Traceable Author Statement more info	PubMed
signal transduction	TAS Traceable Author Statement more info	PubMed
small GTPase mediated signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
intracellular	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: breast cancer anti-estrogen resistance protein 3

Names: breast cancer anti-estrogen resistance protein 3; novel SH2-containing protein 2; SH2 domain-containing protein 3B; breast cancer antiestrogen resistance 3 protein; dJ1033H22.2 (breast cancer anti-estrogen resistance 3)

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NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

NM_001261408.1 → NP_001248337.1 breast cancer anti-estrogen resistance protein 3 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein (isoform 1).

Source sequence(s)

BC028477, BQ015705
NM_001261409.1 → NP_001248338.1 breast cancer anti-estrogen resistance protein 3 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein (isoform 1).

Source sequence(s)

AK027785, AK055442, BQ015705, DA745974
NM_001261410.1 → NP_001248339.1 breast cancer anti-estrogen resistance protein 3 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AL109613, AL833121, BQ015705, DA057195
NM_003567.3 → NP_003558.1 breast cancer anti-estrogen resistance protein 3 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein (isoform 1).

Source sequence(s)

AF124250, BQ015705, CN337133

Consensus CDS

CCDS745.1

UniProtKB/Swiss-Prot

O75815

Related

ENSP00000260502, OTTHUMP00000011959, ENST00000260502, OTTHUMT00000028418

Conserved Domains (2) summary

cd00155
Location:544 – 790
Blast Score: 368

RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

cd10337
Location:147 – 282
Blast Score: 665

SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

94027348..94147385, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

92148823..92262079, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL109613.11	CAI18950.1
		CAI18951.1
genomic	AL359820.12	CAH73975.1
genomic	CH471097.2	EAW73065.1
		EAW73066.1
		EAW73067.1
		EAW73068.1
mRNA	AF124250.1	AAD28245.1
mRNA	AK027785.1	BAG51378.1
mRNA	AK055442.1	BAG51518.1
mRNA	AK301570.1	BAG63064.1
mRNA	AK310970.1	None
mRNA	AL833121.1	None
mRNA	AY358996.1	AAQ89355.1
mRNA	BC028477.1	None
mRNA	BC039895.1	AAH39895.1
mRNA	U92715.1	AAC39777.1
other-genetic	EU832792.1	ACE87803.1
other-genetic	GQ129322.1	ACT64456.1