Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BAALC (brain and acute leukemia, cytoplasmic)

Identity

Other namesFLJ12015
LOC79870
Hugo BAALC
Location 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

Entity 1/4 of acute non lymphocytic leukemia (ANLL) 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 ANLL cases: M0 ANLL, 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 ANLL 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
  

External links

Nomenclature
HugoBAALC
GDBBAALC
Entrez_GeneBAALC  79870  brain and acute leukemia, cytoplasmic
Cards
AtlasBAALCID739ch8q22
GeneCardsBAALC
EnsemblBAALC [Search_View]   ENSG00000164929 [Gene_View]
GenatlasBAALC
GeneLynxBAALC
eGenomeBAALC
euGene79870
Genomic and cartography
GoldenPathBAALC  -  8q22.3   chr8:104222097-104311706 +  8q22.3   [Description]    (hg18-Mar_2006)
EnsemblBAALC - 8q22.3 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneBAALC
Gene and transcription
GenbankAF371319 [ ENTREZ ]
GenbankAF371323 [ ENTREZ ]
GenbankAK022077 [ ENTREZ ]
GenbankAK093819 [ ENTREZ ]
GenbankBC011517 [ ENTREZ ]
RefSeqNM_001024372 [ SRS ]    NM_001024372 [ ENTREZ ]
RefSeqNM_024812 [ SRS ]    NM_024812 [ ENTREZ ]
RefSeqAC_000051 [ SRS ]    AC_000051 [ ENTREZ ]
RefSeqAC_000140 [ SRS ]    AC_000140 [ ENTREZ ]
RefSeqNC_000008 [ SRS ]    NC_000008 [ ENTREZ ]
RefSeqNT_008046 [ SRS ]    NT_008046 [ ENTREZ ]
RefSeqNW_001839136 [ SRS ]    NW_001839136 [ ENTREZ ]
RefSeqNW_923984 [ SRS ]    NW_923984 [ ENTREZ ]
AceViewBAALC AceView - NCBI
UnigeneHs.533446 [ SRS ]    Hs.533446 [ NCBI ]     HS533446 [ spliceNest ]
Fast-db7608 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtQ8WXS3 [ SRS]    Q8WXS3 [ EXPASY ]     Q8WXS3 [ INTERPRO ]
InterproIPR009728 BAALC [ SRS ]    IPR009728 BAALC [ EBI ]
CluSTrQ8WXS3
PfamPF06989 BAALC_N [ SRS ]    PF06989 BAALC_N [ Sanger ]    pfam06989 [ NCBI-CDD ]
BlocksQ8WXS3
PDBBAALC [ SRS ]    BAALC [ PdbSum ],   BAALC [ IMB ]   BAALC [ RSDB ]
HPRD09422
Protein Interaction databases
DIPQ8WXS3
IntActQ8WXS3
Polymorphism : SNP, mutations, diseases
OMIM606602    [ map ]   
GENECLINICS606602
SNPBAALC [dbSNP-NCBI]  
SNPNM_001024372 [SNP-NCI]  
SNPNM_024812 [SNP-NCI]  
SNPBAALC [GeneSNPs - Utah]  BAALC] [HGBASE - SRS]
HAPMAPBAALC [HAPMAP]  
HGMDBAALC
General knowledge
Family BrowserBAALC [UCSC Family Browser]
SOURCENM_001024372
SOURCENM_024812
SMDHs.533446
SAGEHs.533446
GOcytoplasm [Amigo]  cytoplasm
GOmembrane [Amigo]  membrane
PubGeneBAALC
TreeFamBAALC
CTD79870 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeBAALC Related clones (RZPD - Berlin)
PubMed
PubMed8 Pubmed reference(s) in LocusLink

Bibliography

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, Mrˆ„zek 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, a novel marker of human hematopoietic progenitor cells.
Baldus CD, Tanner SM, Kusewitt DF, Liyanarachchi S, Choi C, Caligiuri MA, Bloomfield CD, de la Chapelle A
Experimental hematology. 2003 ; 31 (11) : 1051-1056.
PMID 14585369
 
BAALC expression predicts clinical outcome of de novo acute myeloid leukemia patients with normal cytogenetics: a Cancer and Leukemia Group B Study.
Baldus CD, Tanner SM, Ruppert AS, Whitman SP, Archer KJ, Marcucci G, Caligiuri MA, Carroll AJ, Vardiman JW, Powell BL, Allen SL, Moore JO, Larson RA, Kolitz JE, de la Chapelle A, Bloomfield CD
Blood. 2003 ; 102 (5) : 1613-1618.
PMID 12750167
 
Molecular heterogeneity and prognostic biomarkers in adults with acute myeloid leukemia and normal cytogenetics.
Marcucci G, Mrˆ„zek K, Bloomfield CD
Current opinion in hematology. 2005 ; 12 (1) : 68-75.
PMID 15604894
 
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 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
 
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 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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written02-2006Jean Loup Huret, Sylvie Senon

Citation

This paper should be referenced as such :
Huret JL, Senon S . BAALC (brain and acute leukemia, cytoplasmic). Atlas Genet Cytogenet Oncol Haematol. February 2006 .
URL : http://AtlasGeneticsOncology.org/Genes/BAALCID739ch8q22.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Jul 14 17:41:57 2008


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