Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol BAALC contributors: mct/npt - updated : 03-10-2015
HGNC name brain and acute leukemia, cytoplasmic
HGNC id 14333
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to murine Baalc
ortholog to rattus Baalc
Homologene
FAMILY
CATEGORY unknown/unspecified
SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular
intracellular,cytoplasm,cytoskeleton
basic FUNCTION
  • neuroectodermal and hemopoietic cell functions
  • marker of the mesodermal lineage, especially muscle
  • marker of an early progenitor cell common to the myeloid, lymphoid, and erythroid pathways
  • implicated in both neuroectodermal and hematopoietic cell functions
  • is an indicator of aggressiveness in acute myelogenous leukemia (AML)
  • in leukemia cells its transcription can be activated or repressed by mechanisms acting on epigenetic marks
  • its expression is an important prognostic factor in AML patients with normal karyotype
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BAALC induced cell-cycle progression of leukemia cells by sustaining extracellular signal-regulated kinase (ERK) activity through an interaction with a scaffold protein MAP3K1, which inhibits the interaction between ERK and MAP kinase phosphatase 3 (MKP3/DUSP6)
  • BAALC blocks ERK-mediated monocytic differentiation of AML cells by trapping KLF4 in the cytoplasm and inhibiting its function in the nucleus
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in leukemic blasts from some patients with acute myeloid leukemia (AML), where high expression is an independent marker of poor prognosis
    tumoral     --over  
    in glioblastoma, melanoma, and childhood gastrointestinal stroma tumors
    tumoral     --over  
    is implicated in myeloid leukemogenesis and associated with poor outcome in both acute myeloid leukemia (AML) and acute lymphoblastic leukemia patients
    tumoral     --low  
    low ABCB1/low BAALC expression identifies a subgroup of intermediate cytogenetic risk AML patients with a remarkably good long-term outcome achieved by chemotherapy alone
    Susceptibility to acute myeloid leukemia (AML)
    Variant & Polymorphism SNP
  • BAALC overexpression occurs in the presence of the T allele of SNP rs62527607[GT], which creates a binding site for the activating RUNX1 transcription factor in the BAALC promoter region, predisposing to AML
  • Candidate gene
    Marker
  • represents a novel marker of an early progenitor cell common to the myeloid, lymphoid, and erythroid pathways
  • Therapy target
    ANIMAL & CELL MODELS