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Aliases for BCAS3 Gene

Aliases for BCAS3 Gene

  • BCAS3, Microtubule Associated Cell Migration Factor 2 3 5
  • Rudhira 2 3
  • GAOB1 3 4
  • Breast Carcinoma Amplified Sequence 4/3 Fusion Protein 3
  • Metastasis Associated Antigen Of Breast Cancer 3
  • Breast Carcinoma Amplified Sequence 3 2
  • Breast Carcinoma-Amplified Sequence 3 3
  • BCAS4/BCAS3 Fusion 3
  • Protein Maab1 3
  • MAAB 3

External Ids for BCAS3 Gene

Previous GeneCards Identifiers for BCAS3 Gene

  • GC17P058649
  • GC17P061310
  • GC17P059097
  • GC17P059229
  • GC17P056109
  • GC17P058755
  • GC17P054125

Summaries for BCAS3 Gene

GeneCards Summary for BCAS3 Gene

BCAS3 (BCAS3, Microtubule Associated Cell Migration Factor) is a Protein Coding gene. Diseases associated with BCAS3 include Breast Cancer. GO annotations related to this gene include chromatin binding and histone binding.

UniProtKB/Swiss-Prot for BCAS3 Gene

  • Plays a role in angiogenesis. Participates in the regulation of cell polarity and directional endothelial cell migration by mediating both the activation and recruitment of CDC42 and the reorganization of the actin cytoskeleton at the cell leading edge. Promotes filipodia formation (By similarity). Functions synergistically with PELP1 as a transcriptional coactivator of estrogen receptor-responsive genes. Stimulates histone acetyltransferase activity. Binds to chromatin.

Gene Wiki entry for BCAS3 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCAS3 Gene

Genomics for BCAS3 Gene

Regulatory Elements for BCAS3 Gene

Enhancers for BCAS3 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
GH17F060387 1.5 FANTOM5 ENCODE 6.2 -286.3 -286282 6.5 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 USP32 NDUFB8P2 PPM1D RPL32P32 CA4 APPBP2 HEATR6 BCAS3 RNFT1 C17orf64
GH17F061460 1.3 Ensembl ENCODE 5.2 +785.1 785053 5.0 HDGF PKNOX1 ATF1 ARNT MLX ZFP64 ARID4B YBX1 YY1 SLC30A9 INTS2 APPBP2 TBX2 NACA2 BCAS3 TBX4 ENSG00000267137
GH17F060397 1.1 FANTOM5 ENCODE 1.1 -279.2 -279207 1.6 HDAC1 YBX1 NFXL1 ZNF121 CTBP1 MTA3 ZNF366 ETV6 SMARCE1 RNF2 USP32 RNFT1 PPM1D CA4 BCAS3 C17orf64 LOC105371850
GH17F061072 0.5 FANTOM5 1.8 +395.3 395256 0.1 SP1 ZKSCAN8 KLF9 SIN3A BCAS3 ENSG00000267449 GC17P061131
GH17F060676 1.1 ENCODE 0.8 +0.3 306 2.1 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 PPM1D APPBP2 LOC100996660 RPS6KB1 NDUFB8P2 NACA2 BCAS3 RN7SL606P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BCAS3 on UCSC Golden Path with GeneCards custom track

Promoters for BCAS3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001350397 248 2200 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766

Genomic Location for BCAS3 Gene

Chromosome:
17
Start:
60,677,453 bp from pter
End:
61,392,838 bp from pter
Size:
715,386 bases
Orientation:
Plus strand

Genomic View for BCAS3 Gene

Genes around BCAS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCAS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCAS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCAS3 Gene

Proteins for BCAS3 Gene

  • Protein details for BCAS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H6U6-BCAS3_HUMAN
    Recommended name:
    Breast carcinoma-amplified sequence 3
    Protein Accession:
    Q9H6U6
    Secondary Accessions:
    • Q17RM0
    • Q6KF21
    • Q8IXI6
    • Q8NDR8
    • Q8TDL9
    • Q8TDM1
    • Q8WY55
    • Q9BVF0
    • Q9H957
    • Q9H9Y9
    • Q9NXP4

    Protein attributes for BCAS3 Gene

    Size:
    928 amino acids
    Molecular mass:
    101237 Da
    Quaternary structure:
    • Interacts with histone H3, ESR1, KAT2B and PELP1; the interactions occur in a estrogen-dependent manner. Interacts with beta-tubulin and VIM.
    SequenceCaution:
    • Sequence=AAF70324.1; Type=Frameshift; Positions=693; Evidence={ECO:0000305}; Sequence=AAL99634.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA90966.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14078.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for BCAS3 Gene

neXtProt entry for BCAS3 Gene

Post-translational modifications for BCAS3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cloud-Clone Corp. Antibodies for BCAS3
  • Santa Cruz Biotechnology (SCBT) Antibodies for BCAS3

No data available for DME Specific Peptides for BCAS3 Gene

Domains & Families for BCAS3 Gene

Gene Families for BCAS3 Gene

Protein Domains for BCAS3 Gene

Suggested Antigen Peptide Sequences for BCAS3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H6U6

UniProtKB/Swiss-Prot:

BCAS3_HUMAN :
  • Belongs to the WD repeat BCAS3 family.
  • Contains 7 WD repeats.
Family:
  • Belongs to the WD repeat BCAS3 family.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with BCAS3: view

Function for BCAS3 Gene

Molecular function for BCAS3 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in angiogenesis. Participates in the regulation of cell polarity and directional endothelial cell migration by mediating both the activation and recruitment of CDC42 and the reorganization of the actin cytoskeleton at the cell leading edge. Promotes filipodia formation (By similarity). Functions synergistically with PELP1 as a transcriptional coactivator of estrogen receptor-responsive genes. Stimulates histone acetyltransferase activity. Binds to chromatin.
UniProtKB/Swiss-Prot Induction:
By estrogen.

Gene Ontology (GO) - Molecular Function for BCAS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA 17505058
GO:0005515 protein binding IPI 22300583
GO:0008134 transcription factor binding IPI 17505058
GO:0010698 acetyltransferase activator activity IDA 17505058
GO:0035035 histone acetyltransferase binding IPI 17505058
genes like me logo Genes that share ontologies with BCAS3: view
genes like me logo Genes that share phenotypes with BCAS3: view

Animal Model Products

miRNA for BCAS3 Gene

miRTarBase miRNAs that target BCAS3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BCAS3 Gene

Localization for BCAS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCAS3 Gene

Nucleus. Cytoplasm. Cytoplasm, cytoskeleton. Note=Localizes in the cytoplasm in stationary cells. Translocates from the cytoplasm to the leading edge in motile cells. Colocalizes with microtubules and intermediate filaments in both stationary and motile cells (By similarity). Associates with chromatin. Recruited to estrogen receptor-induced promoters in a PELP1-dependent manner. {ECO:0000250 UniProtKB:Q8CCN5, ECO:0000269 PubMed:17505058}.

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 BCAS3 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 2

Gene Ontology (GO) - Cellular Components for BCAS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 17505058
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA,IDA 17505058
GO:0005856 cytoskeleton IEA --
GO:0005881 cytoplasmic microtubule ISS --
genes like me logo Genes that share ontologies with BCAS3: view

Pathways & Interactions for BCAS3 Gene

SuperPathways for BCAS3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BCAS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007030 Golgi organization ISS --
GO:0010595 positive regulation of endothelial cell migration ISS --
genes like me logo Genes that share ontologies with BCAS3: view

No data available for Pathways by source and SIGNOR curated interactions for BCAS3 Gene

Transcripts for BCAS3 Gene

Unigene Clusters for BCAS3 Gene

Breast carcinoma amplified sequence 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BCAS3 Gene

No ASD Table

Relevant External Links for BCAS3 Gene

GeneLoc Exon Structure for
BCAS3
ECgene alternative splicing isoforms for
BCAS3

Expression for BCAS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BCAS3 Gene

Protein differential expression in normal tissues from HIPED for BCAS3 Gene

This gene is overexpressed in Frontal cortex (16.8) and Peripheral blood mononuclear cells (14.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCAS3 Gene



Protein tissue co-expression partners for BCAS3 Gene

NURSA nuclear receptor signaling pathways regulating expression of BCAS3 Gene:

BCAS3

SOURCE GeneReport for Unigene cluster for BCAS3 Gene:

Hs.655028

mRNA Expression by UniProt/SwissProt for BCAS3 Gene:

Q9H6U6-BCAS3_HUMAN
Tissue specificity: Expressed in stomach, liver, lung, kidney, prostate, testis, thyroid gland, adrenal gland, brain, heart, skeletal muscle, colon, spleen, small intestine, placenta, blood leukocyte and mammary epithelial cells. Expressed in undifferentiated ES cells. Expressed in blood islands and nascent blood vessels derived from differentiated ES cells into embryoid bodies (BD). Expressed in endothelial cells. Not detected in brain. Expressed in brain tumors (at protein level). Expressed in brain. Highly expressed in breast cancers and in glioma cell lines.
genes like me logo Genes that share expression patterns with BCAS3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for BCAS3 Gene

Orthologs for BCAS3 Gene

This gene was present in the common ancestor of animals.

Orthologs for BCAS3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BCAS3 34 35
  • 98.37 (n)
dog
(Canis familiaris)
Mammalia BCAS3 34 35
  • 93.58 (n)
cow
(Bos Taurus)
Mammalia BCAS3 34 35
  • 92.57 (n)
oppossum
(Monodelphis domestica)
Mammalia BCAS3 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCAS3 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcas3 34
  • 89.55 (n)
mouse
(Mus musculus)
Mammalia Bcas3 34 16 35
  • 89.08 (n)
chicken
(Gallus gallus)
Aves BCAS3 34 35
  • 82.72 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 89 (a)
OneToMany
-- 35
  • 85 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bcas3 34
  • 77.5 (n)
zebrafish
(Danio rerio)
Actinopterygii bcas3 34 35
  • 75.21 (n)
zgc63764 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001090 34
  • 47.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG43154 34 35
  • 47.04 (n)
worm
(Caenorhabditis elegans)
Secernentea F56C9.10 35
  • 16 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 28 (a)
OneToOne
Species where no ortholog for BCAS3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for BCAS3 Gene

ENSEMBL:
Gene Tree for BCAS3 (if available)
TreeFam:
Gene Tree for BCAS3 (if available)

Paralogs for BCAS3 Gene

No data available for Paralogs for BCAS3 Gene

Variants for BCAS3 Gene

Sequence variations from dbSNP and Humsavar for BCAS3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1004492 -- 61,379,842(-) GGGCG(C/T)GGAAT intron-variant
rs1005646 -- 61,201,325(-) ATTCA(C/G)AACAA intron-variant
rs10083853 -- 61,275,667(+) CAGAG(C/G)TGCAC intron-variant
rs1008575 -- 61,294,488(-) ATACA(A/G)CCAGC intron-variant
rs1010269 -- 61,371,584(-) ttgtg(C/T)cgaga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BCAS3 Gene

Variant ID Type Subtype PubMed ID
dgv43n68 CNV loss 17160897
dgv5738n54 CNV loss 21841781
dgv5739n54 CNV loss 21841781
esv2581647 CNV insertion 19546169
esv2660744 CNV deletion 23128226
esv2663813 CNV deletion 23128226
esv2664239 CNV deletion 23128226
esv2665893 CNV deletion 23128226
esv2668879 CNV deletion 23128226
esv2669101 CNV deletion 23128226
esv2669962 CNV deletion 23128226
esv2676217 CNV deletion 23128226
esv2761970 CNV loss 21179565
esv27670 CNV loss 19812545
esv3386034 CNV insertion 20981092
esv33904 CNV loss 17666407
esv3554623 CNV deletion 23714750
esv3554625 CNV deletion 23714750
esv3640931 CNV loss 21293372
esv3640932 CNV loss 21293372
esv3640934 CNV loss 21293372
esv3640935 CNV loss 21293372
esv3640937 CNV loss 21293372
esv3640938 CNV loss 21293372
esv3640940 CNV loss 21293372
esv3640941 CNV loss 21293372
esv3640942 CNV loss 21293372
esv3640943 CNV loss 21293372
esv3640944 CNV loss 21293372
esv3640946 CNV loss 21293372
esv3640947 CNV loss 21293372
esv3640948 CNV loss 21293372
esv3893034 CNV loss 25118596
esv991598 OTHER inversion 20482838
nsv1061134 CNV gain 25217958
nsv1062376 CNV gain 25217958
nsv1071395 CNV deletion 25765185
nsv1109096 CNV deletion 24896259
nsv1109097 CNV deletion 24896259
nsv1116231 CNV deletion 24896259
nsv1127588 CNV deletion 24896259
nsv1139679 CNV duplication 24896259
nsv1144811 CNV deletion 24896259
nsv2111 CNV deletion 18451855
nsv2112 CNV insertion 18451855
nsv428349 CNV loss 18775914
nsv473524 CNV novel sequence insertion 20440878
nsv478667 CNV novel sequence insertion 20440878
nsv518130 CNV gain 19592680
nsv575829 CNV loss 21841781
nsv575830 CNV loss 21841781
nsv575831 CNV loss 21841781
nsv575838 CNV loss 21841781
nsv575839 CNV loss 21841781
nsv952350 CNV deletion 24416366
nsv954598 CNV deletion 24416366
nsv960132 CNV duplication 23825009
nsv960133 CNV duplication 23825009
nsv960516 CNV duplication 23825009
nsv962356 CNV duplication 23825009

Variation tolerance for BCAS3 Gene

Residual Variation Intolerance Score: 7.43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.93; 59.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BCAS3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCAS3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCAS3 Gene

Disorders for BCAS3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BCAS3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
breast cancer
  • breast cancer, invasive ductal
- elite association - COSMIC cancer census association via MalaCards
Search BCAS3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BCAS3_HUMAN
  • Note=A chromosomal aberration involving BCAS3 has been found in some breast carcinoma cell lines. Translocation t(17;20)(q23;q13) with BCAS4.

Relevant External Links for BCAS3

Genetic Association Database (GAD)
BCAS3
Human Genome Epidemiology (HuGE) Navigator
BCAS3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCAS3
genes like me logo Genes that share disorders with BCAS3: view

No data available for Genatlas for BCAS3 Gene

Publications for BCAS3 Gene

  1. Cloning of BCAS3 (17q23) and BCAS4 (20q13) genes that undergo amplification, overexpression, and fusion in breast cancer. (PMID: 12378525) Baerlund M. … Kallioniemi A. (Genes Chromosomes Cancer 2002) 2 3 4 22 64
  2. Rudhira/BCAS3 is a cytoskeletal protein that controls Cdc42 activation and directional cell migration during angiogenesis. (PMID: 22300583) Jain M. … Inamdar M.S. (Exp. Cell Res. 2012) 2 3 4 64
  3. Human BCAS3 expression in embryonic stem cells and vascular precursors suggests a role in human embryogenesis and tumor angiogenesis. (PMID: 18030336) Siva K. … Inamdar M.S. (PLoS ONE 2007) 2 3 4 64
  4. New loci associated with kidney function and chronic kidney disease. (PMID: 20383146) KAPttgen A. … Fox C.S. (Nat. Genet. 2010) 3 46 64
  5. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J. … Grant S.F. (BMC Med. Genet. 2010) 3 46 64

Products for BCAS3 Gene

Sources for BCAS3 Gene

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