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BCAS3 (breast carcinoma amplified sequence 3)

Identity

Other namesMAAB
GAOB1
HGNC (Hugo) BCAS3
Location 17q23
Location_base_pair Starts at 56109954 and ends at 56824981 bp from pter ( according to hg18-Mar_2006)  [Mapping]

DNA/RNA

Description spans 715 kb; orientation direct strand; at least 77 exons
Transcription alternate splicings: 3.9 kb, 3.3 kb, 2.3 kb, 1.5 kb, 1.3 kb.

Protein

Expression ubiquitous
Localisation nuclear (potential)

Implicated in

Entity BCAS3 is overexpressed in about 10% of breast cancers, and a hybrid gene BCAS4-BCAS3 was found in breat cancer cell line with a t(17;20)(q23;q13)
Hybrid/Mutated Gene 5' BCAS4 is fused to the 2 last exons (23 and 24) of BCAS3; transcript includes exon 1 from BCAS4 and 21 bp from BCAS3 exon 23; it encodes a 66 aminoacids protein; no reciprocal transcript
  

External links

Nomenclature
HGNC (Hugo)BCAS3   14347
Entrez_Gene (NCBI)BCAS3  54828  breast carcinoma amplified sequence 3
Cards
AtlasBCAS3ID766
GeneCards (Weizmann)BCAS3
Ensembl (Hinxton)ENSG00000141376 [Gene_View]  BCAS3 [Vega]
AceView (NCBI)BCAS3
Genatlas (Paris)BCAS3
euGene (Indiana)54828
SOURCE (Stanford)NM_001099432 NM_017679
Gene Expression (Array Express) ENSG00000141376
Genomic and cartography
GoldenPath (UCSC)BCAS3  -  17q23   chr17:56109954-56824981 +  17q23   [Description]    (hg18-Mar_2006)
EnsemblBCAS3 - 17q23 [CytoView]
Mapping of homologs : NCBIBCAS3 [Mapview]
OMIM607470   
Gene and transcription
Gene : Genbank (Entrez)AF260268 AF361219 AJ511332 AJ518105 AJ518836
Reference sequence (RefSeq transcript) :SRSNM_001099432 NM_017679
Reference transcript : EntrezNM_001099432 NM_017679
RefSeq genomic : SRSAC_000060 AC_000149 NC_000017 NT_010783 NW_001838450 NW_926907
RefSeq genomic : EntrezAC_000060 AC_000149 NC_000017 NT_010783 NW_001838450 NW_926907
Consensus coding sequences : CCDS NCBIBCAS3
Cluster EST : UnigeneHs.655028 [ SRS ] Hs.655028 [ NCBI ]
Alternative Splicing : Fast-db (Paris)13600
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ9H6U6 (SRS) Q9H6U6 (Expasy) Q9H6U6 (Uniprot)
With graphics : InterProQ9H6U6
Splice isoforms : VarSplice FASTAQ9H6U6(VarSplice FASTA)
Domaine pattern : Prosite (SRS)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domain pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (SRS)WD40_repeat    WD40_repeat-like_dom    WD40_repeat_sg   
Domains : Interpro (EBI)WD40_repeat    WD40_repeat-like_dom    WD40_repeat_sg   
Related proteins : CluSTrQ9H6U6
Domain families : Pfam SRSWD40 (PF00400)   
Domain families : Pfam SangerWD40 (PF00400)   
Domain families : Pfam NCBIpfam00400   
Domain families : Smart EMBLWD40 (SM00320)  
Blocks (Seattle)Q9H6U6
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD06313
Protein Interaction databases
DIP (DOE-UCLA)Q9H6U6
IntAct (EBI)Q9H6U6
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIBCAS3
SNP : GeneSNP UtahBCAS3
SNP : HGBaseBCAS3
Genetic variants : HAPMAPBCAS3
Mutations and Diseases : HGMDBCAS3
Hereditary diseases : OMIM607470   
Hereditary diseases : GENETests607470   
Diseases : Genetic AssociationBCAS3
General knowledge
Homologs : HomoloGeneBCAS3
Homology/Alignments : Family Browser UCSCBCAS3
Phylogenetic Trees/Animal Genes : TreeFamBCAS3
Chemical/Protein Interactions : CTD54828
Keywords Ontology : AmiGOnucleus  
Keywords Ontology : EGO-EBInucleus  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesBCAS3 Related clones (RZPD - Berlin)
Literature
PubMed12 Pubmed reference(s) in Entrez
PubGeneBCAS3

Bibliography

Cloning of BCAS3 (17q23) and BCAS4 (20q13) genes that undergo amplification, overexpression, and fusion in breast cancer.
Bˆ§rlund M, Monni O, Weaver JD, Kauraniemi P, Sauter G, Heiskanen M, Kallioniemi OP, Kallioniemi A
Genes, chromosomes & cancer. 2002 ; 35 (4) : 311-317.
PMID 12378525
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written05-2004Jean-Loup Huret, Sylvie Senon

Citation

This paper should be referenced as such :
Huret JL, Senon S . BCAS3 (breast carcinoma amplified sequence 3). Atlas Genet Cytogenet Oncol Haematol. May 2004 .
URL : http://AtlasGeneticsOncology.org/Genes/BCAS3ID766.html

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