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TAL1 (T-cell acute leukemia 1)

Identity

Other namesSCL (stem cell leukaemia), TCL5 (T cell leukaemia 5)
HGNC (Hugo) TAL1
Location 1p32
Location_base_pair Starts at 47454550 and ends at 47468030 bp from pter ( according to hg18-Mar_2006)  [Mapping]

DNA/RNA

 
  DNA diagram
Description 8 exons; 16 kb; SIL (a different gene) sits 90 kb further in 5'
Transcription (complex) alternate splicing of: 1A with 2A, or 3 vs 1B, 2B,3 ...or directly 4, 5, 6

Protein

Description 331 amino acids for the major form of 48 KDa; a truncated form of 26 KDa only in some T-ALL; domains: prolin rich in N-trem; poly Gly; basic Helix-Loop-Helix from the exon 6.
Expression in hematopoietic stem cells, erythroid and megakaryocytic lineages of the adult and in the embryonic brain; indispensable for the genesis of the hematopoietic system.
Function transcription factor; exhibits sequence-specific DNA binding activity when in dimers with another bHLH protein such as E2A (DNA specific sequences are: CANNTG, especially: CAGATG); direct interactions of the bHLH with the LIM domain of RBTN2 or RBTN1.
Homology TAL2 in 9q32; LYL1 in 19p13; more distantly: MYC and other members of the MYC family of Helix-Loop-Helix transcription factors.

Implicated in

Entity t(1;7)(p32;q34) or t(1;14)(p32;q11)/T-ALL --> TAL1-TCRB or TAL1-TCRD
Disease T-cell ALL
Prognosis is not too poor, compared to other T-ALL
  
Entity T-ALL with normal karyotype, but with submicroscopic deletions of part of TAL1 in the 5' region --> SIL-TAL1.
Disease found in 10 to 30 % of T-ALL with a normal karyotype
Hybrid/Mutated Gene deletions which place SIL (SCL interrupting sequence) in close 5' of TAL1; hybrid gene with exon 1 from SIL.
Abnormal Protein TAL1 is under the promoter sequences controle of SIL, a gene active during T cell development.
  
Entity t(1;3)(p32;p21)/T-ALL --> TAL1-TCTA
Disease T-cell ALL
  

Breakpoints

 
Note mainly in 5' in a 1 kb region; but also dispersed in rare cases

External links

Nomenclature
HGNC (Hugo)TAL1   11556
Entrez_Gene (NCBI)TAL1  6886  T-cell acute lymphocytic leukemia 1
Cards
AtlasTAL1
GeneCards (Weizmann)TAL1
Ensembl (Hinxton)ENSG00000162367 [Gene_View]  TAL1 [Vega]
AceView (NCBI)TAL1
Genatlas (Paris)TAL1
euGene (Indiana)6886
SOURCE (Stanford)NM_003189
Gene Expression (Array Express) ENSG00000162367
Genomic and cartography
GoldenPath (UCSC)TAL1  -  1p32   chr1:47454550-47468030 -  1p32   [Description]    (hg18-Mar_2006)
EnsemblTAL1 - 1p32 [CytoView]
Mapping of homologs : NCBITAL1 [Mapview]
OMIM187040   
Gene and transcription
Gene : Genbank (Entrez)BC144215 BC160033 CR624822 M29038 M61108
Reference sequence (RefSeq transcript) :SRSNM_003189
Reference transcript : EntrezNM_003189
RefSeq genomic : SRSAC_000044 AC_000133 NC_000001 NT_032977 NW_001838578 NW_921351
RefSeq genomic : EntrezAC_000044 AC_000133 NC_000001 NT_032977 NW_001838578 NW_921351
Consensus coding sequences : CCDS NCBITAL1
Cluster EST : UnigeneHs.705618 [ SRS ] Hs.705618 [ NCBI ]
Alternative Splicing : Fast-db (Paris)15891
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP17542 (SRS) P17542 (Expasy) P17542 (Uniprot)
With graphics : InterProP17542
Splice isoforms : VarSplice FASTAP17542(VarSplice FASTA)
Domaine pattern : Prosite (SRS)HLH (PS50888)   
Domain pattern : Prosite (Expaxy)HLH (PS50888)   
Domains : Interpro (SRS)HLH_DNA-bd_dom    HLH_DNA_bd   
Domains : Interpro (EBI)HLH_DNA-bd_dom    HLH_DNA_bd   
Related proteins : CluSTrP17542
Domain families : Pfam SRSHLH (PF00010)   
Domain families : Pfam SangerHLH (PF00010)   
Domain families : Pfam NCBIpfam00010   
Domain families : Smart EMBLHLH (SM00353)  
Blocks (Seattle)P17542
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD01753
Protein Interaction databases
DIP (DOE-UCLA)P17542
IntAct (EBI)P17542
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBITAL1
SNP : GeneSNP UtahTAL1
SNP : HGBaseTAL1
Genetic variants : HAPMAPTAL1
Somatic Mutations in Cancer : COSMICTAL1 
Translocation Breakpoints in Cancer : TICdbTAL1 
Mutations and Diseases : HGMDTAL1
Hereditary diseases : OMIM187040   
Hereditary diseases : GENETests187040   
Diseases : Genetic AssociationTAL1
General knowledge
Homologs : HomoloGeneTAL1
Homology/Alignments : Family Browser UCSCTAL1
Phylogenetic Trees/Animal Genes : TreeFamTAL1
Chemical/Protein Interactions : CTD6886
Keywords Ontology : AmiGOhistone deacetylase complex  transcription factor activity  nucleus  multicellular organismal development  cell proliferation  regulation of gene-specific transcription from RNA polymerase II promoter  promoter binding  hemopoiesis  Lsd1/2 complex  histone deacetylase binding  cell fate commitment  regulation of transcription  positive regulation of erythrocyte differentiation  
Keywords Ontology : EGO-EBIhistone deacetylase complex  transcription factor activity  nucleus  multicellular organismal development  cell proliferation  regulation of gene-specific transcription from RNA polymerase II promoter  promoter binding  hemopoiesis  Lsd1/2 complex  histone deacetylase binding  cell fate commitment  regulation of transcription  positive regulation of erythrocyte differentiation  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesTAL1 Related clones (RZPD - Berlin)
Literature
PubMed70 Pubmed reference(s) in Entrez
PubGeneTAL1

Bibliography

Transcriptional activity of TAL1 in T cell acute lymphoblastic leukemia (T-ALL) requires RBTN1 or -2 and induces TALLA1, a highly specific tumor marker of T-ALL.
Ono Y, Fukuhara N, Yoshie O
The Journal of biological chemistry. 1997 ; 272 (7) : 4576-4581.
PMID 9020185
 
The TAL1/Scl basic helix-loop-helix protein blocks myogenic differentiation and E-box dependent transactivation.
Hofmann TJ, Cole MD
Oncogene. 1996 ; 13 (3) : 617-624.
PMID 8760303
 
The T cell leukemia oncoprotein SCL/tal-1 is essential for development of all hematopoietic lineages.
Porcher C, Swat W, Rockwell K, Fujiwara Y, Alt FW, Orkin SH
Cell. 1996 ; 86 (1) : 47-57.
PMID 8689686
 
Association of erythroid transcription factors: complexes involving the LIM protein RBTN2 and the zinc-finger protein GATA1.
Osada H, Grutz G, Axelson H, Forster A, Rabbitts TH
Proceedings of the National Academy of Sciences of the United States of America. 1995 ; 92 (21) : 9585-9589.
PMID 7568177
 
Specific in vivo association between the bHLH and LIM proteins implicated in human T cell leukemia.
Wadman I, Li J, Bash RO, Forster A, Osada H, Rabbitts TH, Baer R
The EMBO journal. 1994 ; 13 (20) : 4831-4839.
PMID 7957052
 
Clinical features and outcome of T-cell acute lymphoblastic leukemia in childhood with respect to alterations at the TAL1 locus: a Pediatric Oncology Group study.
Bash RO, Crist WM, Shuster JJ, Link MP, Amylon M, Pullen J, Carroll AJ, Buchanan GR, Smith RG, Baer R
Blood. 1993 ; 81 (8) : 2110-2117.
PMID 8471769
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written08-1997Jean-Loup Huret and Marie-Claude Labastie
-
Updated03-1998Jean-Loup Huret and Marie-Claude Labastie
Institut d'Embryologie Cellulaire et Moléculaire, CNRS FRE 216O, 94736, Nogent-sur-Marne Cedex, France

Citation

This paper should be referenced as such :
- . TAL1 (T-cell acute leukemia 1). Atlas Genet Cytogenet Oncol Haematol. August 1997 .
URL : http://AtlasGeneticsOncology.org/Genes/TAL1.html
Huret JL and Labastie MC . TAL1 (T-cell acute leukemia 1). Atlas Genet Cytogenet Oncol Haematol. March 1998 .
URL : http://AtlasGeneticsOncology.org/Genes/TAL1.html
Huret JL and Labastie MC . TAL1 (T-cell acute leukemia 1). Atlas Genet Cytogenet Oncol Haematol. .
URL : http://AtlasGeneticsOncology.org/Genes/TAL1.html

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indexed on : Sat Feb 6 13:38:32 CET 2010

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