BAALC (brain and acute leukemia, cytoplasmic)

2006-02-01   Jean-Loup Huret , Sylvie Senon 

Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
8q22.3
LOCUSID
ALIAS
-
FUSION GENES

DNA/RNA

Description

The gene spans over 90kb on plus strand; 8 exons; 3 polyadenylation signals in the 3 untranslated region of exon 8

Proteins

Expression

Transcripts involving exons 1, 6, and 8, or 1, and 8 are found in neurectoderm tissues; BAALC is also expressed in normal early progenitor cells (CD34+) of the hematopoietic tissues: both uncommitted and lineage-committed progenitor cells (lymphoid T- and B-cell progenitors, myeloid and erytroid progenitors); down regulation occurs with cell differentiation; various transcripts are found in leukemic blasts (see above and below); also found expressed in the mesoderm and the muscle in the mouse

Localisation

Cytoplasmic; found adjacent to the cell membrane in the mouse; may be localized to lipid rafts and may play a synaptic role in the rat brain

Homology

No homology with other proteins; the ortholog lacks in lower vertebrates.

Mutations

Somatic

Overexpressed in a subset of acute leukemias

Implicated in

Entity name
1/4 of acute non lymphocytic leukemia (AML) cases and 2/3 of acute lymphocytic leukemia (ALL) case have been found to exhibit high BAALC expression ; no expression in chronic leukemias (e.g. chronic myeloid leukemia (CML)); expression in blast crisis of CML.
Disease
AML cases: M0 AML, M1, M2 and M4eo cases, rarely M4 or M5 cases; no M3 case so far; association with the more immature blasts; no correlation with age, sex, haemoglobin level or platelets count, or FLT3 phenotype; BAALC expression is associated with a higher WBC count
Prognosis
Poor prognosis is associated with BAALC overexpression in AML cases: at 3 yrs, only 35-40% of patients with high BAALC expression were alive; independant risk factor; in particular, BAALC overexpression remains a poor prognostic factor in the absence of FLT3 internal tandem duplication.
Cytogenetics
Patients present with normal karyotypes, with +8, or with various anomalies.
Entity name
Glioblastoma
Note
BAALC in also upregulated in normal astrocytes

Bibliography

Pubmed IDLast YearTitleAuthors
164184992006BAALC expression and FLT3 internal tandem duplication mutations in acute myeloid leukemia patients with normal cytogenetics: prognostic implications.Baldus CD et al
156048942005Molecular heterogeneity and prognostic biomarkers in adults with acute myeloid leukemia and normal cytogenetics.Marcucci G et al
163765862006Induction of BAALC and down regulation of RAMP3 in astrocytes treated with differentiation inducers.Moodbidri MS et al
157490742005Baalc, a marker of mesoderm and muscle.Satoskar AA et al
117076012001BAALC, the human member of a novel mammalian neuroectoderm gene lineage, is implicated in hematopoiesis and acute leukemia.Tanner SM et al
156592342005BAALC 1-6-8 protein is targeted to postsynaptic lipid rafts by its N-terminal myristoylation and palmitoylation, and interacts with alpha, but not beta, subunit of Ca/calmodulin-dependent protein kinase II.Wang X et al

Other Information

Locus ID:

NCBI: 79870
MIM: 606602
HGNC: 14333
Ensembl: ENSG00000164929

Variants:

dbSNP: 79870
ClinVar: 79870
TCGA: ENSG00000164929
COSMIC: BAALC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164929ENST00000297574Q8WXS3
ENSG00000164929ENST00000306391Q8WXS3
ENSG00000164929ENST00000309982Q8WXS3
ENSG00000164929ENST00000330955Q8WXS3
ENSG00000164929ENST00000438105Q8WXS3

Expression (GTEx)

0
50
100
150
200

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
183788532008High BAALC expression associates with other molecular prognostic markers, poor outcome, and a distinct gene-expression signature in cytogenetically normal patients younger than 60 years with acute myeloid leukemia: a Cancer and Leukemia Group B (CALGB) study.51
208415072010BAALC and ERG expression levels are associated with outcome and distinct gene and microRNA expression profiles in older patients with de novo cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study.45
225292872012miR-3151 interplays with its host gene BAALC and independently affects outcome of patients with cytogenetically normal acute myeloid leukemia.29
156048942005Molecular heterogeneity and prognostic biomarkers in adults with acute myeloid leukemia and normal cytogenetics.25
176466672007Low ERG and BAALC expression identifies a new subgroup of adult acute T-lymphoblastic leukemia with a highly favorable outcome.22
219679782011Presence of FLT3-ITD and high BAALC expression are independent prognostic markers in childhood acute myeloid leukemia.17
200652902010High BAALC expression predicts chemoresistance in adult B-precursor acute lymphoblastic leukemia.13
218359572011Pediatric-inspired intensified therapy of adult T-ALL reveals the favorable outcome of NOTCH1/FBXW7 mutations, but not of low ERG/BAALC expression: a GRAALL study.13
195554382010BAALC and ERG expression in acute myeloid leukemia with normal karyotype: impact on prognosis.10
224932672012Heritable polymorphism predisposes to high BAALC expression in acute myeloid leukemia.9

Citation

Jean-Loup Huret ; Sylvie Senon

BAALC (brain and acute leukemia, cytoplasmic)

Atlas Genet Cytogenet Oncol Haematol. 2006-02-01

Online version: http://atlasgeneticsoncology.org/gene/739/baalc