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BCAR3 BCAR3 adaptor protein, NSP family member [ Homo sapiens (human) ]

Gene ID: 8412, updated on 29-Mar-2020

Summary

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Official Symbol
BCAR3provided by HGNC
Official Full Name
BCAR3 adaptor protein, NSP family memberprovided by HGNC
Primary source
HGNC:HGNC:973
See related
Ensembl:ENSG00000137936 MIM:604704
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; AND-34; SH2D3B
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]
Expression
Ubiquitous expression in fat (RPKM 13.8), placenta (RPKM 6.5) and 23 other tissues See more
Orthologs
mouse all

Genomic context

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See BCAR3 in Genome Data Viewer
Location:
1p22.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (93561741..93847219, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (94027343..94312706, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene formin binding protein 1 like Neighboring gene RNA, 5S ribosomal pseudogene 53 Neighboring gene tRNA-Cys (anticodon GCA) 7-1 Neighboring gene BCAR3 antisense RNA 1 Neighboring gene uncharacterized LOC102723480 Neighboring gene mig-7 Neighboring gene tRNA-Arg (anticodon TCT) 1-1 Neighboring gene microRNA 760 Neighboring gene deoxynucleotidyltransferase terminal interacting protein 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Prediction and prognostic significance of BCAR3 expression in patients with multiple myeloma. Zhang W, et al. J Transl Med, 2018 Dec 18. PMID 30563570, Free PMC Article
  2. Breast cancer anti-estrogen resistance 3 inhibits transforming growth factor β/Smad signaling and associates with favorable breast cancer disease outcomes. Guo J, et al. Breast Cancer Res, 2014 Dec 13. PMID 25499443, Free PMC Article
  3. Breast cancer antiestrogen resistance 3 (BCAR3) promotes cell motility by regulating actin cytoskeletal and adhesion remodeling in invasive breast cancer cells. Wilson AL, et al. PLoS One, 2013. PMID 23762409, Free PMC Article
  4. AND-34/BCAR3 regulates adhesion-dependent p130Cas serine phosphorylation and breast cancer cell growth pattern. Makkinje A, et al. Cell Signal, 2009 Sep. PMID 19454314, Free PMC Article
  5. AND-34 activates phosphatidylinositol 3-kinase and induces anti-estrogen resistance in a SH2 and GDP exchange factor-like domain-dependent manner. Felekkis KN, et al. Mol Cancer Res, 2005 Jan. PMID 15671247

See all (47) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. high expression level of BCAR3 predicted better prognosis of multiple myeloma patients.
    Title: Prediction and prognostic significance of BCAR3 expression in patients with multiple myeloma.
  2. BCAR3 is an essential interactor and mediator of HEF1-induced migration.
    Title: Human enhancer of filamentation 1-induced colorectal cancer cell migration: Role of serine phosphorylation and interaction with the breast cancer anti-estrogen resistance 3 protein.
  3. BCAR3 acts as a putative suppressor of breast cancer progression by inhibiting the prometastatic TGFbeta/Smad signaling pathway in invasive breast tumors.
    Title: Breast cancer anti-estrogen resistance 3 inhibits transforming growth factor β/Smad signaling and associates with favorable breast cancer disease outcomes.
  4. BCAR1 and BCAR3 scaffolding proteins have roles in cell signaling and antiestrogen resistance
    Title: Association of the breast cancer antiestrogen resistance protein 1 (BCAR1) and BCAR3 scaffolding proteins in cell signaling and antiestrogen resistance.
  5. Taken together, these results demonstrated that BCAR3 plays an important role in the signaling pathways of insulin leading to cell cycle progression and cytoskeleton reorganization, but not GLUT4 translocation.
    Title: Functional roles of BCAR3 in the signaling pathways of insulin leading to DNA synthesis, membrane ruffling and GLUT4 translocation.
  6. BCAR3 promotes cell motility by regulating actin cytoskeletal and adhesion remodeling in invasive breast cancer cells.
    Title: Breast cancer antiestrogen resistance 3 (BCAR3) promotes cell motility by regulating actin cytoskeletal and adhesion remodeling in invasive breast cancer cells.
  7. BCAR3 expression may regulate Src signaling in a BCAR3-p130(cas) complex-dependent fashion by altering the ability of the Src SH3 domain to bind the p130(cas) SBD
    Title: Breast cancer anti-estrogen resistance 3 (BCAR3) protein augments binding of the c-Src SH3 domain to Crk-associated substrate (p130cas).
  8. 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.
  9. 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.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0554

Gene Ontology Provided by GOA

Function Evidence Code Pubs
guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
  
kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
phosphotyrosine residue binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
endothelin receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
insulin receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
lens morphogenesis in camera-type eye IEA
Inferred from Electronic Annotation
more info
  
positive regulation of DNA replication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
positive regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
positive regulation of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
 PubMed 
positive regulation of peptidyl-serine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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
cytoplasm IEA
Inferred from Electronic Annotation
more info
  
focal adhesion IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
breast cancer anti-estrogen resistance protein 3
Names
BCAR3, NSP family adaptor protein
SH2 domain-containing protein 3B
breast cancer anti-estrogen resistance 3
breast cancer antiestrogen resistance 3 protein
dJ1033H22.2 (breast cancer anti-estrogen resistance 3)
epididymis secretory sperm binding protein
novel SH2-containing protein 2

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.

mRNA and Protein(s)

  1. NM_001261408.2 → NP_001248337.1  breast cancer anti-estrogen resistance protein 3 isoform 1

    See identical proteins and their annotated locations for NP_001248337.1

    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)
    AL049796, AL109613, BC028477, BQ015705
    Consensus CDS
    CCDS745.1
    UniProtKB/Swiss-Prot
    O75815
    Related
    ENSP00000359264.1, ENST00000370244.5
    Conserved Domains (2) summary
    cd10337
    Location:147 → 282
    SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
    smart00147
    Location:544 → 819
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

  2. NM_001261409.1 → NP_001248338.1  breast cancer anti-estrogen resistance protein 3 isoform 1

    See identical proteins and their annotated locations for NP_001248338.1

    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
    Consensus CDS
    CCDS745.1
    UniProtKB/Swiss-Prot
    O75815
    UniProtKB/TrEMBL
    B3KNL6, B3KP06
    Related
    ENSP00000359263.1, ENST00000370243.1
    Conserved Domains (2) summary
    cd10337
    Location:147 → 282
    SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
    smart00147
    Location:544 → 819
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

  3. NM_001261410.2 → NP_001248339.1  breast cancer anti-estrogen resistance protein 3 isoform 2

    See identical proteins and their annotated locations for NP_001248339.1

    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
    Consensus CDS
    CCDS58010.1
    UniProtKB/Swiss-Prot
    O75815
    Related
    ENSP00000359267.3, ENST00000370247.7
    Conserved Domains (2) summary
    cd10337
    Location:56 → 191
    SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
    smart00147
    Location:453 → 728
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

  4. NM_001308251.1 → NP_001295180.1  breast cancer anti-estrogen resistance protein 3 isoform 3

    See identical proteins and their annotated locations for NP_001295180.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a significantly shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK310970, AW470748, AY358996
    Consensus CDS
    CCDS76181.1
    UniProtKB/Swiss-Prot
    O75815
    Related
    ENSP00000441343.1, ENST00000539242.5
    Conserved Domains (1) summary
    smart00147
    Location:220 → 495
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

  5. NM_003567.4 → NP_003558.1  breast cancer anti-estrogen resistance protein 3 isoform 1

    See identical proteins and their annotated locations for NP_003558.1

    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, AL109613, BQ015705, CN337133
    Consensus CDS
    CCDS745.1
    UniProtKB/Swiss-Prot
    O75815
    Related
    ENSP00000260502.6, ENST00000260502.11
    Conserved Domains (2) summary
    cd10337
    Location:147 → 282
    SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
    smart00147
    Location:544 → 819
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    93561741..93847219 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002480.1 → XP_016857969.1  breast cancer anti-estrogen resistance protein 3 isoform X1

    UniProtKB/Swiss-Prot
    O75815
    Conserved Domains (2) summary
    cd10337
    Location:147 → 282
    SH2_BCAR3; Src homology 2 (SH2) domain in the Breast Cancer Anti-estrogen Resistance protein 3
    smart00147
    Location:544 → 819
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75815.1 GenPept UniProtKB/Swiss-Prot:O75815

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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