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Aliases for BCAS1 Gene

Aliases for BCAS1 Gene

  • Breast Carcinoma Amplified Sequence 1 2 3 5
  • Amplified And Overexpressed In Breast Cancer 3 4
  • Novel Amplified In Breast Cancer 1 3 4
  • AIBC1 3 4
  • NABC1 3 4
  • Breast Carcinoma-Amplified Sequence 1 3

External Ids for BCAS1 Gene

Previous GeneCards Identifiers for BCAS1 Gene

  • GC20M052288
  • GC20M053198
  • GC20M053245
  • GC20M051993
  • GC20M052553
  • GC20M049306

Summaries for BCAS1 Gene

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, Apr 2016]

GeneCards Summary for BCAS1 Gene

BCAS1 (Breast Carcinoma Amplified Sequence 1) is a Protein Coding gene. Diseases associated with BCAS1 include Breast Cancer.

Gene Wiki entry for BCAS1 Gene

Additional gene information for BCAS1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCAS1 Gene

Genomics for BCAS1 Gene

Regulatory Elements for BCAS1 Gene

Enhancers for BCAS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H054065 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +2.2 2220 6 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF143 FOS DEK MXD4 BCAS1 PFDN4 MIR4756
GH20H054105 1.2 ENCODE dbSUPER 12.7 -36.1 -36089 3.6 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 YY1 TCF12 PAF1 ZHX2 BCAS1 PFDN4 CYP24A1
GH20H054077 1 Ensembl ENCODE 12.7 -7.9 -7911 1.5 SRF PKNOX1 ELF1 MIER2 REST ZBTB40 THRB RARA GABPA NFIL3 BCAS1 CYP24A1
GH20H054063 0.8 ENCODE 11.7 +6.5 6537 1.4 PKNOX1 BACH1 ZMYM3 EBF1 RELA GATA2 ATF7 RUNX3 IKZF2 CHD2 BCAS1 CYP24A1 MIR4756 GC20M054012
GH20H054086 0.7 Ensembl ENCODE 10.7 -16.1 -16063 1.2 ZNF664 NFE2 PFDN4 BCAS1 CYP24A1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BCAS1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for BCAS1 Gene

Genomic Locations for BCAS1 Gene
133,989 bases
Minus strand

Genomic View for BCAS1 Gene

Genes around BCAS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCAS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCAS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCAS1 Gene

Proteins for BCAS1 Gene

  • Protein details for BCAS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Breast carcinoma-amplified sequence 1
    Protein Accession:
    Secondary Accessions:
    • A0AVG5
    • Q68CZ3

    Protein attributes for BCAS1 Gene

    584 amino acids
    Molecular mass:
    61709 Da
    Quaternary structure:
    • Homodimer. May interact with DYNLL1 and DYNLL2 (By similarity).

    Alternative splice isoforms for BCAS1 Gene


neXtProt entry for BCAS1 Gene

Post-translational modifications for BCAS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BCAS1 Gene

Domains & Families for BCAS1 Gene

Gene Families for BCAS1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BCAS1 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BCAS1: view

No data available for UniProtKB/Swiss-Prot for BCAS1 Gene

Function for BCAS1 Gene

Molecular function for BCAS1 Gene

GENATLAS Biochemistry:
novel sequence amplified and overexpressed in breast cancer

Phenotypes From GWAS Catalog for BCAS1 Gene

genes like me logo Genes that share phenotypes with BCAS1: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BCAS1 Gene

Localization for BCAS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCAS1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCAS1 gene
Compartment Confidence
extracellular 5
nucleus 2
cytosol 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BCAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with BCAS1: view

Pathways & Interactions for BCAS1 Gene

SuperPathways for BCAS1 Gene

No Data Available

Interacting Proteins for BCAS1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000379290 O75363-BCAS1_HUMAN for BCAS1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for BCAS1 Gene


No data available for Pathways by source and SIGNOR curated interactions for BCAS1 Gene

Drugs & Compounds for BCAS1 Gene

No Compound Related Data Available

Transcripts for BCAS1 Gene

Unigene Clusters for BCAS1 Gene

Breast carcinoma amplified sequence 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BCAS1 Gene

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: -

Relevant External Links for BCAS1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BCAS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BCAS1 Gene

mRNA differential expression in normal tissues according to GTEx for BCAS1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x16.3), Brain - Substantia nigra (x6.5), Brain - Putamen (basal ganglia) (x4.7), Brain - Amygdala (x4.5), and Brain - Hippocampus (x4.3).

Protein differential expression in normal tissues from HIPED for BCAS1 Gene

This gene is overexpressed in Nasal epithelium (41.0), Spinal cord (13.9), and Frontal cortex (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCAS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of BCAS1 Gene:


SOURCE GeneReport for Unigene cluster for BCAS1 Gene:


mRNA Expression by UniProt/SwissProt for BCAS1 Gene:

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.

Evidence on tissue expression from TISSUES for BCAS1 Gene

  • Nervous system(5)
  • Intestine(2.5)
  • Stomach(2.2)
genes like me logo Genes that share expression patterns with BCAS1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BCAS1 Gene

Orthologs for BCAS1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BCAS1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BCAS1 33 34
  • 99.37 (n)
(Canis familiaris)
Mammalia BCAS1 33 34
  • 83.63 (n)
(Bos Taurus)
Mammalia BCAS1 33 34
  • 80.2 (n)
(Rattus norvegicus)
Mammalia Bcas1 33
  • 76.4 (n)
(Mus musculus)
Mammalia Bcas1 33 16 34
  • 75.51 (n)
(Monodelphis domestica)
Mammalia BCAS1 34
  • 51 (a)
(Ornithorhynchus anatinus)
Mammalia BCAS1 34
  • 46 (a)
(Gallus gallus)
Aves BCAS1 33 34
  • 57.65 (n)
(Anolis carolinensis)
Reptilia BCAS1 34
  • 32 (a)
Species where no ortholog for BCAS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for BCAS1 Gene

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

Paralogs for BCAS1 Gene

No data available for Paralogs for BCAS1 Gene

Variants for BCAS1 Gene

Sequence variations from dbSNP and Humsavar for BCAS1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000000525 -- 53,950,704(+) TGTTT(-/G)CTGAA intron-variant
rs1000009460 -- 54,015,878(+) TTAGT(C/T)AGATT intron-variant
rs1000027085 -- 53,996,479(+) AAAAA(A/G)AAAGA intron-variant
rs1000031347 -- 53,953,127(+) TCTCA(A/G)GCACT intron-variant
rs1000050987 -- 53,995,546(+) CAAAA(C/T)TGCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BCAS1 Gene

Variant ID Type Subtype PubMed ID
nsv820262 CNV loss 19587683
nsv817899 CNV loss 17921354
nsv586269 CNV loss 21841781
nsv586250 CNV loss 21841781
nsv586230 CNV loss 21841781
nsv586224 CNV gain 21841781
nsv527711 CNV loss 19592680
nsv517164 CNV gain+loss 19592680
nsv514943 CNV loss 21397061
nsv442485 CNV loss 18776908
nsv437187 CNV loss 16327808
nsv433324 CNV loss 18776910
nsv3419 CNV deletion 18451855
nsv179659 CNV deletion 16902084
nsv1055549 CNV gain 25217958
esv3893347 CNV loss 25118596
esv3646133 CNV loss 21293372
esv3646132 CNV loss 21293372
esv3568068 CNV loss 25503493
esv3557211 CNV deletion 23714750
esv34060 CNV loss 18971310
esv3338404 CNV insertion 20981092
esv3330125 CNV insertion 20981092
esv3303841 CNV mobile element insertion 20981092
esv2763673 CNV loss 21179565
esv2760671 CNV loss 21179565
esv2758801 CNV loss 17122850
esv2722548 CNV deletion 23290073
esv2663949 CNV deletion 23128226
esv2663008 CNV deletion 23128226
esv25594 CNV loss 19812545
esv2465974 CNV insertion 19546169
esv2421391 CNV deletion 20811451
esv23291 CNV loss 19812545
dgv7613n54 CNV loss 21841781
dgv7612n54 CNV loss 21841781
dgv7611n54 CNV loss 21841781
dgv7610n54 CNV loss 21841781
dgv7609n54 CNV loss 21841781
dgv7608n54 CNV loss 21841781
dgv7607n54 CNV loss 21841781
dgv66n68 CNV loss 17160897
dgv513n27 CNV loss 19166990
dgv4331n100 CNV loss 25217958
dgv4330n100 CNV loss 25217958
dgv4329n100 CNV loss 25217958
dgv4328n100 CNV loss 25217958
dgv4327n100 CNV loss 25217958
dgv4326n100 CNV loss 25217958
dgv1254e212 CNV loss 25503493
dgv1253e212 CNV loss 25503493
dgv1252e212 CNV loss 25503493
dgv1251e212 CNV loss 25503493
dgv1250e212 CNV loss 25503493

Variation tolerance for BCAS1 Gene

Residual Variation Intolerance Score: 91.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.61; 89.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BCAS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCAS1 Gene

Disorders for BCAS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BCAS1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
breast cancer
  • breast cancer, invasive ductal
- elite association - COSMIC cancer census association via MalaCards
Search BCAS1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BCAS1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with BCAS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BCAS1 Gene

Publications for BCAS1 Gene

  1. Positional cloning of ZNF217 and NABC1: genes amplified at 20q13.2 and overexpressed in breast carcinoma. (PMID: 9671742) Collins C … Gray JW (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 22 60
  2. Characterization of the novel amplified in breast cancer-1 (NABC1) gene product. (PMID: 14567997) Beardsley DI … Brown KD (Experimental cell research 2003) 3 4 22 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Analysis of candidate genes for prostate cancer. (PMID: 15583422) Burmester JK … Catalona WJ (Human heredity 2004) 3 45 60

Products for BCAS1 Gene

Sources for BCAS1 Gene

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