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    BCAS3 BCAS3 microtubule associated cell migration factor [ Homo sapiens (human) ]

    Gene ID: 54828, updated on 9-Dec-2024

    Summary

    Official Symbol
    BCAS3provided by HGNC
    Official Full Name
    BCAS3 microtubule associated cell migration factorprovided by HGNC
    Primary source
    HGNC:HGNC:14347
    See related
    Ensembl:ENSG00000141376 MIM:607470; AllianceGenome:HGNC:14347
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MAAB; GAOB1; PHAF2; HEMARS
    Summary
    Enables several functions, including acetyltransferase activator activity; beta-tubulin binding activity; and histone acetyltransferase binding activity. Involved in cellular response to estrogen stimulus; positive regulation of catalytic activity; and positive regulation of transcription by RNA polymerase II. Located in euchromatin; nucleus; and phagophore assembly site. Implicated in Hengel-Maroofian-Schols syndrome. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 4.9), brain (RPKM 4.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BCAS3 in Genome Data Viewer
    Location:
    17q23.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (60677851..61392831)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (61546666..62261697)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (58755212..59470192)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr17:58656843-58657505 Neighboring gene MPRA-validated peak2928 silencer Neighboring gene long intergenic non-protein coding RNA 1999 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:58676487-58677475 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:58677476-58678463 Neighboring gene ribosomal protein SA pseudogene 66 Neighboring gene MPRA-validated peak2930 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8795 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:58754592-58755345 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1D Neighboring gene MPRA-validated peak2931 silencer Neighboring gene RNA, U6 small nuclear 623, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr17:58784318-58784508 Neighboring gene RNA, 7SL, cytoplasmic 606, pseudogene Neighboring gene ribosomal protein L36a pseudogene 46 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:58843867-58844368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:58844369-58844868 Neighboring gene keratin 18 pseudogene 61 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 28 Neighboring gene RNA, 7SL, cytoplasmic 448, pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene BCAS3 antisense RNA 1 Neighboring gene uncharacterized LOC124904041 Neighboring gene ribosomal protein L23a pseudogene 74 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:59200454-59200632 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:59322561-59323086 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:59323087-59323612 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:59360941-59361441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59392337-59392838 Neighboring gene Sharpr-MPRA regulatory region 10586 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:59429722-59430668 Neighboring gene Sharpr-MPRA regulatory region 2758 Neighboring gene uncharacterized LOC101927855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59457237-59457737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:59474489-59475040 Neighboring gene TBX2 promoter region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:59482769-59483666 Neighboring gene TBX2 antisense RNA 1 Neighboring gene T-box transcription factor 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hengel-Maroofian-Schols syndrome
    MedGen: C5562032 OMIM: 619641 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    A genome-wide association study of optic disc parameters.
    EBI GWAS Catalog
    A genome-wide scan for breast cancer risk haplotypes among African American women.
    EBI GWAS Catalog
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    EBI GWAS Catalog
    New loci associated with kidney function and chronic kidney disease.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC4973, FLJ20128, DKFZp686O1527

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acetyltransferase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables beta-tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone acetyltransferase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables nuclear receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phosphatidylinositol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to estrogen stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of catalytic activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of endothelial cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to estrogen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to starvation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cell leading edge ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in euchromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intermediate filament cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in phagophore assembly site IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    BCAS3 microtubule associated cell migration factor
    Names
    BCAS4/BCAS3 fusion
    Rudhira
    breast carcinoma amplified sequence 4/3 fusion protein
    breast carcinoma-amplified sequence 3
    metastasis associated antigen of breast cancer
    phagophore assembly factor 2
    protein Maab1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001099432.3NP_001092902.1  BCAS3 microtubule associated cell migration factor isoform 1

      See identical proteins and their annotated locations for NP_001092902.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) has multiple differences in the coding region, compared to variant 3. Isoforms 1 and 3 are the same length but have distinct C-termini.
      Source sequence(s)
      AC005746, AC005884, AC015876, AC079005, AC110602
      Consensus CDS
      CCDS45749.1
      UniProtKB/Swiss-Prot
      Q17RM0, Q6KF21, Q8IXI6, Q8NDR8, Q8TDL9, Q8TDM1, Q8WY55, Q9BVF0, Q9H6U6, Q9H957, Q9H9Y9, Q9NXP4
      UniProtKB/TrEMBL
      B2RBN7, B7ZKU7
      Related
      ENSP00000375067.4, ENST00000390652.9
      Conserved Domains (2) summary
      pfam12490
      Location:581753
      BCAS3; Breast carcinoma amplified sequence 3
      cl02567
      Location:344449
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    2. NM_001320470.3NP_001307399.1  BCAS3 microtubule associated cell migration factor isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (3). Isoforms 1 and 3 are the same length but have distinct C-termini.
      Source sequence(s)
      AC005746, AC005884, AC015876, AC079005, AC110602
      Consensus CDS
      CCDS82177.1
      UniProtKB/TrEMBL
      B2RBN7, B7ZKU7
      Related
      ENSP00000466078.1, ENST00000589222.5
      Conserved Domains (2) summary
      pfam12490
      Location:521738
      BCAS3; Breast carcinoma amplified sequence 3
      cl02567
      Location:344449
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    3. NM_001330413.2NP_001317342.1  BCAS3 microtubule associated cell migration factor isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC005746, AC005884, AC015876, AC079005, AC110602
      Consensus CDS
      CCDS82176.1
      UniProtKB/TrEMBL
      B2RBN7, B7ZKU7
      Related
      ENSP00000468592.1, ENST00000588462.5
      Conserved Domains (2) summary
      pfam12490
      Location:581753
      BCAS3; Breast carcinoma amplified sequence 3
      cl02567
      Location:344449
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    4. NM_001330414.2NP_001317343.1  BCAS3 microtubule associated cell migration factor isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC005746, AC005884, AC015876, AC079005, AC110602
      Consensus CDS
      CCDS82178.1
      UniProtKB/TrEMBL
      B2RBN7, B7ZKU7
      Related
      ENSP00000386173.2, ENST00000408905.7
    5. NM_001353144.2NP_001340073.1  BCAS3 microtubule associated cell migration factor isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC005746, AC005884, AC015876, AC079005, AC110602
      UniProtKB/TrEMBL
      B2RBN7, B7ZKU7
      Conserved Domains (1) summary
      pfam12490
      Location:611783
      BCAS3; Breast carcinoma amplified sequence 3
    6. NM_001353145.2NP_001340074.1  BCAS3 microtubule associated cell migration factor isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC005746, AC005884, AC015876, AC079005, AC110602
      UniProtKB/TrEMBL
      B2RBN7, B7ZKU7
      Conserved Domains (1) summary
      pfam12490
      Location:551768
      BCAS3; Breast carcinoma amplified sequence 3
    7. NM_001353146.2NP_001340075.1  BCAS3 microtubule associated cell migration factor isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC005746, AC005884, AC015876, AC079005, AC110602
      UniProtKB/TrEMBL
      B2RBN7, B7ZKU7
      Conserved Domains (1) summary
      pfam12490
      Location:581753
      BCAS3; Breast carcinoma amplified sequence 3
    8. NM_017679.5NP_060149.3  BCAS3 microtubule associated cell migration factor isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks alternate in-frame exons in the 3' coding region, compared to variant 3, resulting in a shorter protein (isoform 2), compared to isoform 3.
      Source sequence(s)
      AC005746, AC005884, AC015876, AC079005, AC110602
      Consensus CDS
      CCDS11626.1
      UniProtKB/TrEMBL
      B2RBN7, B7ZKU7
      Related
      ENSP00000385323.2, ENST00000407086.8
      Conserved Domains (2) summary
      pfam12490
      Location:521738
      BCAS3; Breast carcinoma amplified sequence 3
      cl02567
      Location:344449
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      60677851..61392831
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      61546666..62261697
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)