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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BCAS1 Gene

protein-coding   GIFtS: 55
GCID: GC20M052553

Breast Carcinoma Amplified Sequence 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Breast Carcinoma Amplified Sequence 11 2
NABC12 3 5
Amplified And Overexpressed In Breast Cancer2 3
Novel Amplified In Breast Cancer 12 3
AIBC12 3
Breast Carcinoma-Amplified Sequence 12

External Ids:    HGNC: 9741   Entrez Gene: 85372   Ensembl: ENSG000000647877   OMIM: 6029685   UniProtKB: O753633   

Export aliases for BCAS1 gene to outside databases

Previous GC identifers: GC20M052288 GC20M053198 GC20M053245 GC20M051993 GC20M049306


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BCAS1 Gene:
This gene resides in a region at 20q13 which is amplified in a variety of tumor types and associated with more
aggressive tumor phenotypes. Among the genes identified from this region, it was found to be highly expressed in
three amplified breast cancer cell lines and in one breast tumor without amplification at 20q13.2. However, this
gene is not in the common region of maximal amplification and its expression was not detected in the breast
cancer cell line MCF7, in which this region is highly amplified. Although not consistently expressed, this gene
is a candidate oncogene. (provided by RefSeq, Jul 2008)

GeneCards Summary for BCAS1 Gene: 
BCAS1 (breast carcinoma amplified sequence 1) is a protein-coding gene. Diseases associated with BCAS1 include breast cancer, and prostate cancer.

Gene Wiki entry for BCAS1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BCAS1 gene promoter:
         HFH-3   STAT1   RFX1   STAT1beta   STAT1alpha   FOXI1   FOXJ2 (long isoform)   FOXJ2   Meis-1a   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BCAS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BCAS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BCAS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.2   Ensembl cytogenetic band:  20q13.2   HGNC cytogenetic band: 20q13.2

BCAS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCAS1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M052553:  view genomic region     (about GC identifiers)

Start:
52,553,316 bp from pter      End:
52,687,304 bp from pter
Size:
133,989 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BCAS1_HUMAN, O75363 (See protein sequence)
Recommended Name: Breast carcinoma-amplified sequence 1  
Size: 584 amino acids; 61709 Da
Subunit: Homodimer. May interact with DYNLL1 and DYNLL2 (By similarity)
Subcellular location: Cytoplasm
Secondary accessions: A0AVG5 Q68CZ3
Alternative splicing: 2 isoforms:  O75363-1   O75363-2   (Contains a phosphoserine at position 340 (Probable))

Explore the universe of human proteins at neXtProt for BCAS1: NX_O75363

Explore proteomics data for BCAS1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75363

  • BCAS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BCAS1 Protein Expression
    REFSEQ proteins: NP_003648.2  
    ENSEMBL proteins: 
     ENSP00000396361   ENSP00000360490   ENSP00000379290   ENSP00000399936   ENSP00000360495  
     ENSP00000409956   ENSP00000397442  

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    Cloud-Clone Corp. Proteins for BCAS1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    BCAS1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR026115 NABC1

    Graphical View of Domain Structure for InterPro Entry O75363

    ProtoNet protein and cluster: O75363


    BCAS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:
         Genatlas biochemistry entry for BCAS1:
    novel sequence amplified and overexpressed in breast cancer

    Phenotypes:
         1 GenomeRNAi human phenotype for BCAS1:
     Increased cell death in breast 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidBCAS1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BCAS1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for BCAS1 (O753633 ENSP000003792904) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RUVBL2Q9Y2303, ENSP000002214134I2D: score=2 STRING: ENSP00000221413
    DYNLL1P631673, ENSP000002425774I2D: score=4 STRING: ENSP00000242577
    JUNP054123I2D: score=2 
    SLC4A11ENSP000003693964STRING: ENSP00000369396
    DLC1ENSP000002762974STRING: ENSP00000276297
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BCAS1

    Search CenterWatch for drugs/clinical trials and news about BCAS1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BCAS1 gene: 
    NM_003657.2  

    Unigene Cluster for BCAS1:

    Breast carcinoma amplified sequence 1
    Hs.400556  [show with all ESTs]
    Unigene Representative Sequence: CR749643
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000448484 ENST00000371435(uc010zza.1 uc010gim.2) ENST00000395961(uc010zzb.1 uc002xws.2 uc002xwt.2 uc010gil.1)
    ENST00000422805 ENST00000371440 ENST00000434986 ENST00000411563(uc010zzc.2)

    miRNA
    Products:
         
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    8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate BCAS1 (see all 19):
    hsa-miR-579 hsa-miR-34b* hsa-miR-361-5p hsa-miR-3200-5p hsa-miR-642a hsa-miR-4251 hsa-miR-374a* hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidBCAS1 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BCAS1

    Additional mRNA sequence: 

    AF041260.1 AK225656.1 AK294135.1 AK294150.1 AK295318.1 AK304213.1 AK308384.1 AK311215.1 
    AK315220.1 AK316038.1 BC024044.1 BC126346.1 BC126348.1 BX538336.1 CR749643.1 

    11 DOTS entries:

    DT.75136996  DT.456087  DT.95365082  DT.100647376  DT.310546  DT.120813946  DT.95140614  DT.91859446 
    DT.97810394  DT.95127175  DT.97781003 

    24/104 AceView cDNA sequences (see all 104):

    AI400362 BE249939 BE091817 BF589653 AV724996 AW453053 BF919392 BX645051 
    AI828071 BM796403 BX463597 BP347796 BX486692 BG707599 BP341239 BM702087 
    BI457979 BP360152 N51218 BX419743 BC024044 AA644590 BI603286 CK002754 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for BCAS1 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15
    SP1:                    -                                               -     -                       -                           
    SP2:                                                                    -     -                       -     -     -               
    SP3:                                                                    -     -                       -     -                     
    SP4:                                                                    -                                                         
    SP5:                                                                                                                              


    ECgene alternative splicing isoforms for BCAS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BCAS1 expression in normal human tissues (normalized intensities)      BCAS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAACTGTAT
    BCAS1 Expression
    About this image


    BCAS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)
             Olfactory Bulb   
     
     Heart (Cardiovascular System)
             Atrioventricular Node
     
     Bone (Muscoskeletal System)
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   
     
     Blood (Muscoskeletal System)
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   
     
     Spinal Cord (Nervous System)
             Dorsal Root Ganglion   

    See BCAS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BCAS1

    SOURCE GeneReport for Unigene cluster: Hs.400556

    UniProtKB/Swiss-Prot: BCAS1_HUMAN, O75363
    Tissue specificity: Expressed in brain and prostate, and at lower levels in testis, intestine and colon.
    Overexpressed in most breast cancer cell lines and down-regulated in some colorectal tumors

        SABiosciences Custom PCR Arrays for BCAS1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCAS1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for BCAS1 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bcas11 , 5 breast carcinoma amplified sequence 11, 5 75.51(n)1
    64.57(a)1
      2 (91.41 cM)5
    769601  NM_029815.21  NP_084091.21 
     1703469915 
    chicken
    (Gallus gallus)
    Aves BCAS11 breast carcinoma amplified sequence 1 60(n)
    45.83(a)
      419338  XM_417504.2  XP_417504.2 
    lizard
    (Anolis carolinensis)
    Reptilia BCAS16
    breast carcinoma amplified sequence 1
    32(a)
    1 ↔ 1
    GL343226.1(26429-74270)


    ENSEMBL Gene Tree for BCAS1 (if available)
    TreeFam Gene Tree for BCAS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3068 SNPs in BCAS1 are shown (see all 3068)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs763119171,2
    --52559580(+) CTTAGC/GCATCC 1 -- ds50010--------
    rs1870258011,2
    --52559705(+) GGGTGA/GTGCAA 1 -- ds50010--------
    rs1395863121,2
    --52559719(+) ATGCTC/TCAGTT 1 -- ds50010--------
    rs1907126491,2
    --52559734(+) CCAACA/CCTTGC 1 -- ds50010--------
    rs1807300861,2
    --52559767(+) CTTTTG/TCTCTT 1 -- ds50010--------
    rs1497225511,2
    --52559768(+) TTTTTC/GTCTTA 1 -- ds50010--------
    rs1122156991,2
    C,F--52559790(+) TCGGAG/TCCCAC 1 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs1138377421,2
    C,F--52559814(+) TATGCG/ATCCAA 1 -- ds50012Minor allele frequency- A:0.02CSA WA 120
    rs1489032971,2
    --52559881(+) CATGCA/GTGTGT 1 -- ds50010--------
    rs1458351001,2
    C--52559918(+) ACATT-/TGTGTGT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for BCAS1 (52553316 - 52687304 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/24 variations for BCAS1 (see all 24):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2722548CNV Deletion23290073
    esv2663008CNV Deletion23128226
    esv2421391CNV Deletion20811451
    esv2663949CNV Deletion23128226
    esv2465974CNV Insertion19546169
    esv268120CNV Insertion20981092
    nsv820262CNV Loss19587683
    esv23291CNV Loss19812545
    nsv817899CNV Loss17921354
    dgv4579n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602968    OMIM disorders: --

    3 diseases for BCAS1:    About MalaCards
    breast cancer    prostate cancer    prostatitis


    BCAS1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): BCAS1
    Human Genome Epidemiology (HuGE) Navigator: BCAS1 (2 documents)

    Export disorders for BCAS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BCAS1 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with BCAS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Positional cloning of ZNF217 and NABC1: genes amplified at 20q13.2 and overexpressed in breast carcinoma. (PubMed id 9671742)1, 2, 3, 9 Collins C.... Gray J.W. (1998)
    2. Characterization of the novel amplified in breast cancer-1 (NABC1) gene product. (PubMed id 14567997)1, 2, 9 Beardsley D.I.... Brown K.D. (2003)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Analysis of candidate genes for prostate cancer. (PubMed id 15583422)1, 4 Burmester J.K....Catalona W.J. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    7. NABC1 (BCAS1): alternative splicing and downregulation in colorectal tumors. (PubMed id 10857754)1, 2 Correa R.G....de Souza S.J. (2000)
    8. A genome-wide meta-analysis identifies novel loci ass ociated with schizophrenia and bipolar disorder. (PubMed id 20889312)1 Wang K.S....Aragam N. (2010)
    9. A genome-wide association study of sporadic ALS in a homogenous Irish population. (PubMed id 18057069)4 Cronin S....Hardiman O. (2008)
    10. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (2007)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8537 HGNC: 974 AceView: BCAS1 Ensembl:ENSG00000064787 euGenes: HUgn8537
    ECgene: BCAS1 H-InvDB: BCAS1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BCAS1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BCAS1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BCAS1 gene:
    Search GeneIP for patents involving BCAS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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