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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_024812 3 splicing 2859 NP_079088 - 145 - 2001 11707601 stable NM_001024372 2 splicing 2692 NP_001019543 - 54 neuroectodermal tissues 2001 11707601 stable 1-5-6-8 - splicing - - 180 AML 2001 11707601 stable 1-4-5-6-8 - splicing - - 73 AML 2001 11707601 stable 1-5-6-7-8 - splicing - - 149 AML 2001 11707601 stable 1-2-6-8 - splicing - - 80 AML 2001 11707601 unstable 1-2-3-6-8 - splicing - - 80 AML 2001 11707601 unstable

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive salivary gland       highly Nervous brain       highly   nerve       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Homo sapiens Muscular smooth vessel     Mus musculus Fetal Muscular smooth muscularis mucosa (tractus digestif)     Mus musculus Fetal Muscular striatum skeletal   highly Mus musculus Fetal Muscular striatum cardiac     Mus musculus Fetal

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic progenitor 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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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