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BAALC (brain and acute leukemia, cytoplasmic)

Written2006-02Jean-Loup Huret, Sylvie Senon
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Other aliasFLJ12015
LOC79870
LocusID (NCBI) 79870
Atlas_Id 739
Location 8q22.3  [Link to chromosome band 8q22]
Location_base_pair Starts at and ends at bp from pter
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BAALC (8q22.3) / RGS12 (4p16.3)BAALC (8q22.3) / RIMS2 (8q22.3)BAALC (8q22.3) / UBR5 (8q22.3)
RIMS2 (8q22.3) / BAALC (8q22.3)

DNA/RNA

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

Protein

Description Various transcripts: involving exons 1, 6, and 8 (145 amino acids) or 1, and 8 (54 amino acids) in the neurectoderm; transcripts involving exons 1,5,6,8 or 1,4,5,6,8, or 1,5,6,7,8, or 1,2,6,8, or 1,2,5,6,8 or 1,2,3,6,8 in leukemic cells; altogether, 8 different transcripts of BAALC, giving rise to 5 different 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

Note
  
Entity 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 Glioblastoma
Note BAALC in also upregulated in normal astrocytes
  

Bibliography

BAALC expression and FLT3 internal tandem duplication mutations in acute myeloid leukemia patients with normal cytogenetics: prognostic implications.
Baldus CD, Thiede C, Soucek S, Bloomfield CD, Thiel E, Ehninger G
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2006 ; 24 (5) : 790-797.
PMID 16418499
 
Molecular heterogeneity and prognostic biomarkers in adults with acute myeloid leukemia and normal cytogenetics.
Marcucci G, Mrózek K, Bloomfield CD
Current opinion in hematology. 2005 ; 12 (1) : 68-75.
PMID 15604894
 
Induction of BAALC and down regulation of RAMP3 in astrocytes treated with differentiation inducers.
Moodbidri MS, Shirsat NV
Cell biology international. 2006 ; 30 (3) : 210-213.
PMID 16376586
 
Baalc, a marker of mesoderm and muscle.
Satoskar AA, Tanner SM, Weinstein M, Qualman SJ, de la Chapelle A
Gene expression patterns : GEP. 2005 ; 5 (4) : 463-473.
PMID 15749074
 
BAALC, the human member of a novel mammalian neuroectoderm gene lineage, is implicated in hematopoiesis and acute leukemia.
Tanner SM, Austin JL, Leone G, Rush LJ, Plass C, Heinonen K, Mrózek K, Sill H, Knuutila S, Kolitz JE, Archer KJ, Caligiuri MA, Bloomfield CD, de La Chapelle A
Proceedings of the National Academy of Sciences of the United States of America. 2001 ; 98 (24) : 13901-13906.
PMID 11707601
 
BAALC 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, Tian QB, Okano A, Sakagami H, Moon IS, Kondo H, Endo S, Suzuki T
Journal of neurochemistry. 2005 ; 92 (3) : 647-659.
PMID 15659234
 

Citation

This paper should be referenced as such :
Huret, JL ; Senon, S
BAALC (brain, acute leukemia, cytoplasmic)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(3):166-167.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/BAALCID739ch8q22.html


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  BAALC/UBR5 (8q22)
RIMS2/BAALC (8q22)


External links

Nomenclature
Cards
AtlasBAALCID739ch8q22.txt
Aliases
Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)79870
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
Miscellaneous
canSAR (ICR) (select the gene name)
Probes
Litterature
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed


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indexed on : Thu Oct 18 17:29:11 CEST 2018

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