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FLASH GENE
Symbol BAALC contributors: mct/npt - updated : 03-10-2015
HGNC name brain and acute leukemia, cytoplasmic
HGNC id 14333
Location 8q22.3      Physical location : 104.152.920 - 104.242.530
Synonym symbol(s) FLJ12015
DNA
TYPE functioning gene
STRUCTURE 89.61 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
RNF19 8q22 ring finger protein 19 LOC157567 8q22.3 hypothetical protein LOC157567 MGC39715 8q22.3 hypothetical protein MGC39715 PABPC1 8q22.2-q23 poly(A) binding protein, cytoplasmic 1 LOC392256 YWHAZ 2p25.2-p25.1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide LOC51123 8q22.3 HSPC038 protein FKSG17 8q22.3 HSPC038 protein TFCP2L3 8q22.3 HSPC038 protein NCALD 8q22-q23 neurocalcin delta LOC392257 8 similar to IAP-associated factor VIAF1; phosducin-like 2 RRM2B 8q23.1 ribonucleotide reductase M2 B (TP53 inducible) DD5 8q22 ribonucleotide reductase M2 B (TP53 inducible) ODF1 8q22.3 outer dense fiber of sperm tails 1 TIEG 8q22.2 TGFB inducible early growth response OAZIN 8q22.3 ornithine decarboxylase antizyme inhibitor LOC389679 8 similar to hypothetical protein ATP6V1C1 8q22.3 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1 LOC389680 8 similar to MGC39526 protein BAALC 8q22.3 brain and acute leukemia, cytoplasmic FZD6 8q22.3-q23.1 frizzled homolog 6 (Drosophila) CTHRC1 8q22.3 collagen triple helix repeat containing 1 MFTC 8q22.3 mitochondrial folate transporter/carrier DKFZP564O0463 8q22.3 DKFZP564O0463 protein TARBP2P 8q22-q24 TAR (HIV) RNA binding protein 2 pseudogene RIMS2 8q22.3 regulating synaptic membrane exocytosis 2 DCSTAMP 8q23 DC-specific transmembrane protein DPYS 8q22 dihydropyrimidinase ST7 7q31.1-q31.3 suppression of tumorigenicity 7 LOC392258 8 similar to ribosomal protein L29 LOC392259 8 similar to KIAA0779 protein ZFPM2 8q22.3-q23 zinc finger protein, multitype 2
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 splicing 2859 - 145 - 2001 11707601
stable
2 splicing 2692 - 54 neuroectodermal tissues 2001 11707601
stable
- splicing - - 180 AML 2001 11707601
stable
- splicing - - 73 AML 2001 11707601
stable
- splicing - - 149 AML 2001 11707601
stable
- splicing - - 80 AML 2001 11707601
unstable
- splicing - - 80 AML 2001 11707601
unstable
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivesalivary gland   highly
Nervousbrain   highly
 nerve   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  highly Homo sapiens
Muscularsmoothvessel   Mus musculusFetal
Muscularsmoothmuscularis mucosa (tractus digestif)   Mus musculusFetal
Muscularstriatumskeletal highly Mus musculusFetal
Muscularstriatumcardiac   Mus musculusFetal
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticprogenitor cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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