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... See more...

Aliases for BCAS1 Gene

Aliases for BCAS1 Gene

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

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.

UniProtKB/Swiss-Prot Summary for BCAS1 Gene

Gene Wiki entry for BCAS1 Gene

Additional gene information for BCAS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCAS1 Gene

Genomics for BCAS1 Gene

GeneHancer (GH) Regulatory Elements for BCAS1 Gene

Promoters and enhancers for BCAS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J054065 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 512.1 +2.2 2220 6 EP300 FOXK2 TCF12 NCOR1 BCLAF1 PHB2 KDM6A TCF7 FOXA1 TARDBP BCAS1 MIR4756 PFDN4
GH20J054059 Promoter 0.8 EPDnew 500.4 +11.7 11725 0.1 RBM25 POLR2A ZNF282 CREB3L1 NFXL1 POLR2H ZBTB33 PAX5 NCOA1 SP1 BCAS1 PFDN4 MIR4756 RF00951-092
GH20J054102 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.7 -34.7 -34651 6.7 EP300 FOXK2 CTCF ZSCAN5C TCF12 MYC POLR2G USF1 BCLAF1 NCOR1 CYP24A1 BCAS1 PFDN4 HSALNG0130972 lnc-CYP24A1-3
GH20J054063 Enhancer 0.8 ENCODE 11.7 +6.5 6537 1.4 RELA RCOR1 RBM25 TCF12 NFXL1 ARNT MEF2B SMARCA5 EBF1 IKZF1 BCAS1 CYP24A1 MIR4756 RF00951-092
GH20J054077 Enhancer 0.7 ENCODE 12.7 -7.9 -7910 1.5 ZBTB40 NCOR1 RCOR1 REST GABPA SRF NFXL1 NBN GABPB1 ELF1 BCAS1 CYP24A1 HSALNG0130972
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BCAS1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCAS1

Top Transcription factor binding sites by QIAGEN in the BCAS1 gene promoter:
  • FOXI1
  • FOXJ2
  • FOXJ2 (long isoform)
  • HFH-3
  • Meis-1a
  • Pax-4a
  • RFX1
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for BCAS1 Gene

Genomic Locations for BCAS1 Gene
chr20:53,936,777-54,070,765
(GRCh38/hg38)
Size:
133,989 bases
Orientation:
Minus strand
chr20:52,553,316-52,687,304
(GRCh37/hg19)
Size:
133,989 bases
Orientation:
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:
    O75363-BCAS1_HUMAN
    Recommended name:
    Breast carcinoma-amplified sequence 1
    Protein Accession:
    O75363
    Secondary Accessions:
    • A0AVG5
    • Q68CZ3

    Protein attributes for BCAS1 Gene

    Size:
    584 amino acids
    Molecular mass:
    61709 Da
    Quaternary structure:
    • Homodimer (PubMed:14567997). Interacts with DYNLL1 and DYNLL2 (By similarity).

    Alternative splice isoforms for BCAS1 Gene

    UniProtKB/Swiss-Prot:

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BCAS1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BCAS1 Gene

GenScript: Design optimal peptide antigens:
  • Breast carcinoma amplified sequence 1 (A0AVG7_HUMAN)
  • cDNA, FLJ78937, highly similar to Rattus norvegicus breast carcinoma amplified sequence 1 (Bcas1), mRNA (B4DFL4_HUMAN)
  • cDNA FLJ52050, highly similar to Breast carcinoma amplified sequence 1 (B4E2C4_HUMAN)
  • Novel amplified in breast cancer 1 (BCAS1_HUMAN)
  • BCAS1 protein (Q05CL3_HUMAN)
genes like me logo Genes that share domains with BCAS1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BCAS1 Gene

Function for BCAS1 Gene

Molecular function for BCAS1 Gene

UniProtKB/Swiss-Prot Function:
Required for myelination.
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

Animal Models for BCAS1 Gene

MGI Knock Outs for BCAS1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCAS1

Clone Products

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

Localization for BCAS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCAS1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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
nucleus 3
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
golgi apparatus 1

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 ISS --
GO:0014069 postsynaptic density IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with BCAS1: view

Pathways & Interactions for BCAS1 Gene

PathCards logo

SuperPathways for BCAS1 Gene

No Data Available

Interacting Proteins for BCAS1 Gene

;

Gene Ontology (GO) - Biological Process for BCAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042552 myelination IEA,ISS --
genes like me logo Genes that share ontologies with BCAS1: view

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

mRNA/cDNA for BCAS1 Gene

7 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCAS1

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: -
SP5:
SP6:
SP7:

Relevant External Links for BCAS1 Gene

GeneLoc Exon Structure for
BCAS1

Expression for BCAS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BCAS1

SOURCE GeneReport for Unigene cluster for BCAS1 Gene:

Hs.400556

mRNA Expression by UniProt/SwissProt for BCAS1 Gene:

O75363-BCAS1_HUMAN
Tissue specificity: Highly expressed in the brain and, more specifically, in oligodendrocytes (at protein level). Expressed in the 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
chimpanzee
(Pan troglodytes)
Mammalia BCAS1 31 30
  • 99.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BCAS1 31 30
  • 83.63 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BCAS1 31 30
  • 80.2 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcas1 30
  • 76.4 (n)
mouse
(Mus musculus)
Mammalia Bcas1 17 31 30
  • 75.51 (n)
oppossum
(Monodelphis domestica)
Mammalia BCAS1 31
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCAS1 31
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves BCAS1 31 30
  • 57.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCAS1 31
  • 32 (a)
OneToOne
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

ENSEMBL:
Gene Tree for BCAS1 (if available)
TreeFam:
Gene Tree for BCAS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BCAS1: view image

Paralogs for BCAS1 Gene

No data available for Paralogs for BCAS1 Gene

Variants for BCAS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCAS1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
710981 Benign: not provided 53,957,507(-) C/T INTRON_VARIANT
769096 Benign: not provided 54,028,575(-) T/C SYNONYMOUS_VARIANT
770303 Benign: not provided 53,953,690(-) T/C SYNONYMOUS_VARIANT
777585 Benign: not provided 53,953,513(-) C/T SYNONYMOUS_VARIANT
787494 Benign: not provided 54,028,948(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for BCAS1 Gene

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

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

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)

Additional Variant Information for BCAS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCAS1

SNP Genotyping and Copy Number Assay Products

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, familial
- elite association - COSMIC cancer census association via MalaCards
Search BCAS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BCAS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 54
  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 23 54
  3. Mice lacking BCAS1, a novel myelin-associated protein, display hypomyelination, schizophrenia-like abnormal behaviors, and upregulation of inflammatory genes in the brain. (PMID: 28230289) Ishimoto T … Mori H (Glia 2017) 2 3 54
  4. 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 41 54
  5. 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 54

Products for BCAS1 Gene

Sources for BCAS1 Gene