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

Gene ID: 54828, updated on 5-Aug-2022

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 nucleus; phagophore assembly site; and transcriptionally active chromatin. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 4.9), brain (RPKM 4.0) and 25 other tissues See more
Orthologs
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Genomic context

See BCAS3 in Genome Data Viewer
Location:
17q23.2
Exon count:
28
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (60677851..61392831)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (61546666..62261697)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (58755212..59470192)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1999 Neighboring gene ribosomal protein SA pseudogene 66 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1D Neighboring gene RNA, U6 small nuclear 623, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 606, pseudogene Neighboring gene ribosomal protein L36a pseudogene 46 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 uncharacterized LOC124904041 Neighboring gene ribosomal protein L23a pseudogene 74 Neighboring gene uncharacterized LOC107984992 Neighboring gene Sharpr-MPRA regulatory region 2758 Neighboring gene uncharacterized LOC101927855 Neighboring gene TBX2 promoter region 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

Homology

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 Golgi organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in activation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in angiogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in autophagy IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to estrogen stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in microtubule organizing center organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of focal adhesion assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of actin cytoskeleton reorganization ISS
Inferred from Sequence or Structural Similarity
more info
 
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 filopodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of intracellular protein transport 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 establishment of cell polarity 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
PubMed 
involved_in tube formation ISS
Inferred from Sequence or Structural Similarity
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
PubMed 
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
    Q9H6U6, Q9NXP4
    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/Swiss-Prot
    Q9H6U6
    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
    Q05D99
    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
    Q05D99
    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
    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
    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
    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/Swiss-Prot
    Q9H6U6
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)