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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
HGNC (Hugo) BAALC
LocusID (NCBI) 79870
Atlas_Id 739
Location 8q22.3  [Link to chromosome band 8q22]
Location_base_pair Starts at 104152921 and ends at 104242533 bp from pter ( according to hg19-Feb_2009)  [Mapping BAALC.png]
Fusion genes
(updated 2016)
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


External links

Nomenclature
HGNC (Hugo)BAALC   14333
Cards
AtlasBAALCID739ch8q22
Entrez_Gene (NCBI)BAALC  79870  brain and acute leukemia, cytoplasmic
Aliases
GeneCards (Weizmann)BAALC
Ensembl hg19 (Hinxton)ENSG00000164929 [Gene_View]  chr8:104152921-104242533 [Contig_View]  BAALC [Vega]
Ensembl hg38 (Hinxton)ENSG00000164929 [Gene_View]  chr8:104152921-104242533 [Contig_View]  BAALC [Vega]
ICGC DataPortalENSG00000164929
TCGA cBioPortalBAALC
AceView (NCBI)BAALC
Genatlas (Paris)BAALC
WikiGenes79870
SOURCE (Princeton)BAALC
Genetics Home Reference (NIH)BAALC
Genomic and cartography
GoldenPath hg19 (UCSC)BAALC  -     chr8:104152921-104242533 +  8q22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BAALC  -     8q22.3   [Description]    (hg38-Dec_2013)
EnsemblBAALC - 8q22.3 [CytoView hg19]  BAALC - 8q22.3 [CytoView hg38]
Mapping of homologs : NCBIBAALC [Mapview hg19]  BAALC [Mapview hg38]
OMIM606602   
Gene and transcription
Genbank (Entrez)AF371319 AF371323 AK022077 AK093819 AK310816
RefSeq transcript (Entrez)NM_001024372 NM_024812
RefSeq genomic (Entrez)NC_000008 NC_018919 NT_008046 NW_004929340
Consensus coding sequences : CCDS (NCBI)BAALC
Cluster EST : UnigeneHs.533446 [ NCBI ]
CGAP (NCI)Hs.533446
Alternative Splicing GalleryENSG00000164929
Gene ExpressionBAALC [ NCBI-GEO ]   BAALC [ EBI - ARRAY_EXPRESS ]   BAALC [ SEEK ]   BAALC [ MEM ]
Gene Expression Viewer (FireBrowse)BAALC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79870
GTEX Portal (Tissue expression)BAALC
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WXS3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WXS3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WXS3
Splice isoforms : SwissVarQ8WXS3
PhosPhoSitePlusQ8WXS3
Domains : Interpro (EBI)BAALC   
Domain families : Pfam (Sanger)BAALC_N (PF06989)   
Domain families : Pfam (NCBI)pfam06989   
Conserved Domain (NCBI)BAALC
DMDM Disease mutations79870
Blocks (Seattle)BAALC
SuperfamilyQ8WXS3
Human Protein AtlasENSG00000164929
Peptide AtlasQ8WXS3
HPRD09422
IPIIPI00183623   IPI00015704   IPI00784789   IPI00103600   IPI00103596   IPI00785147   
Protein Interaction databases
DIP (DOE-UCLA)Q8WXS3
IntAct (EBI)Q8WXS3
FunCoupENSG00000164929
BioGRIDBAALC
STRING (EMBL)BAALC
ZODIACBAALC
Ontologies - Pathways
QuickGOQ8WXS3
Ontology : AmiGOcytoplasm  membrane  
Ontology : EGO-EBIcytoplasm  membrane  
NDEx NetworkBAALC
Atlas of Cancer Signalling NetworkBAALC
Wikipedia pathwaysBAALC
Orthology - Evolution
OrthoDB79870
GeneTree (enSembl)ENSG00000164929
Phylogenetic Trees/Animal Genes : TreeFamBAALC
HOVERGENQ8WXS3
HOGENOMQ8WXS3
Homologs : HomoloGeneBAALC
Homology/Alignments : Family Browser (UCSC)BAALC
Gene fusions - Rearrangements
Fusion : MitelmanBAALC/UBR5 [8q22.3/8q22.3]  
Fusion : MitelmanRIMS2/BAALC [8q22.3/8q22.3]  [t(8;8)(q22;q22)]  
Fusion: TCGABAALC 8q22.3 UBR5 8q22.3 SKCM
Fusion: TCGARIMS2 8q22.3 BAALC 8q22.3 BLCA BRCA
Fusion Cancer (Beijing)BAALC [8q22.3]  -  RIMS2 [8q22.3]  [FUSC000516]  [FUSC000516]
Fusion Cancer (Beijing)RIMS2 [8q22.3]  -  BAALC [8q22.3]  [FUSC000573]  [FUSC000573]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBAALC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BAALC
dbVarBAALC
ClinVarBAALC
1000_GenomesBAALC 
Exome Variant ServerBAALC
ExAC (Exome Aggregation Consortium)BAALC (select the gene name)
Genetic variants : HAPMAP79870
Genomic Variants (DGV)BAALC [DGVbeta]
DECIPHER (Syndromes)8:104152921-104242533  ENSG00000164929
CONAN: Copy Number AnalysisBAALC 
Mutations
ICGC Data PortalBAALC 
TCGA Data PortalBAALC 
Broad Tumor PortalBAALC
OASIS PortalBAALC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBAALC  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBAALC
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BAALC
DgiDB (Drug Gene Interaction Database)BAALC
DoCM (Curated mutations)BAALC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BAALC (select a term)
intoGenBAALC
NCG5 (London)BAALC
Cancer3DBAALC(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606602   
Orphanet
MedgenBAALC
Genetic Testing Registry BAALC
NextProtQ8WXS3 [Medical]
TSGene79870
GENETestsBAALC
Huge Navigator BAALC [HugePedia]
snp3D : Map Gene to Disease79870
BioCentury BCIQBAALC
ClinGenBAALC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79870
Chemical/Pharm GKB GenePA25230
Clinical trialBAALC
Miscellaneous
canSAR (ICR)BAALC (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBAALC
EVEXBAALC
GoPubMedBAALC
iHOPBAALC
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:36:42 CET 2017

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jlhuret@AtlasGeneticsOncology.org.