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TAL1 (T-cell acute leukemia 1)

Written1997-08Jean-Loup Huret, Marie-Claude Labastie
Institut d'Embryologie Cellulaire et Moléculaire, CNRS FRE 216O, 94736, Nogent-sur-Marne Cedex, France
Updated1998-03Jean-Loup Huret, Marie-Claude Labastie
Institut d'Embryologie Cellulaire et Moléculaire, CNRS FRE 216O, 94736, Nogent-sur-Marne Cedex, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesTCL5
T-cell acute lymphocytic leukemia 1
Alias_symbol (synonym)SCL
bHLHa17
Other aliasSCL (stem cell leukaemia), TCL5 (T cell leukaemia 5)
HGNC (Hugo) TAL1
LocusID (NCBI) 6886
Atlas_Id 15
Location 1p33  [Link to chromosome band 1p33]
Location_base_pair Starts at 47216290 and ends at 47231715 bp from pter ( according to hg19-Feb_2009)  [Mapping TAL1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
C2CD5 (12p12.1) / TAL1 (1p33)LYL1 (19p13.2) / TAL1 (1p33)ST3GAL3 (1p34.1) / TAL1 (1p33)
STIL (1p33) / TAL1 (1p33)TAL1 (1p33) / RHOA (3p21.31)TAL1 (1p33) / STIL (1p33)
TAL1 (1p33) / TGM2 (20q11.23)TAL1 (1p33) / TRBV20OR9-2 (-)TCTA (3p21.31) / TAL1 (1p33)

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

Note
  
Entity t(1;7)(p32;q34) or t(1;14)(p32;q11)/T-ALL --> TAL1 - TRB or TAL1 -TRD
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

Bibliography

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
 
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
 
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
 
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
 
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
 
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
 

Citation

This paper should be referenced as such :
Huret, JL ; Labastie, MC ; Huret, JL ; Labastie, MC
TAL1 (T-cell acute leukemia 1)
Atlas Genet Cytogenet Oncol Haematol. 1998;2(2):47-48.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/TAL1ID15.html
History of this paper:
Huret, JL ; Labastie, MC ; Labastie, MC ; Huret, JL. TAL1 (T-cell acute leukemia 1). Atlas Genet Cytogenet Oncol Haematol. 1997;1(1):3-3.
http://documents.irevues.inist.fr/bitstream/handle/2042/32019/08-1997-TAL1ID15.pdf


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 10 ]
  t(1;5)(p32;q31) ?/TAL1
t(1;5)(p32;q31) without TAL1 rearrangement
t(1;7)(p36;p12) IKZF1/PRDM16
t(1;7)(p32;q34) TRB/TAL1::t(1;14)(p32;q11) TRA/TAL1::1p32 rearrangements
t(7;9)(q34;q32) TRB/TAL2
t(7;12)(q34;p13) TRB/CCND2::t(12;14)(p13;q11) TRA or TRD/CCND2
t(7;19)(q34;p13) TRB/LYL1
t(1;3)(p32;p21) TCTA/TAL1
t(11;14)(p15;q11) TRD/LMO1
Classification of T-Cell disorders


External links

Nomenclature
HGNC (Hugo)TAL1   11556
Cards
AtlasTAL1ID15
Entrez_Gene (NCBI)TAL1  6886  TAL bHLH transcription factor 1, erythroid differentiation factor
AliasesSCL; TCL5; bHLHa17; tal-1
GeneCards (Weizmann)TAL1
Ensembl hg19 (Hinxton)ENSG00000162367 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162367 [Gene_View]  chr1:47216290-47231715 [Contig_View]  TAL1 [Vega]
ICGC DataPortalENSG00000162367
TCGA cBioPortalTAL1
AceView (NCBI)TAL1
Genatlas (Paris)TAL1
WikiGenes6886
SOURCE (Princeton)TAL1
Genetics Home Reference (NIH)TAL1
Genomic and cartography
GoldenPath hg38 (UCSC)TAL1  -     chr1:47216290-47231715 -  1p33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TAL1  -     1p33   [Description]    (hg19-Feb_2009)
EnsemblTAL1 - 1p33 [CytoView hg19]  TAL1 - 1p33 [CytoView hg38]
Mapping of homologs : NCBITAL1 [Mapview hg19]  TAL1 [Mapview hg38]
OMIM187040   613065   
Gene and transcription
Genbank (Entrez)BC144215 BC160033 BQ186967 M61108 N71056
RefSeq transcript (Entrez)NM_001287347 NM_001290403 NM_001290404 NM_001290405 NM_001290406 NM_003189
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TAL1
Cluster EST : UnigeneHs.737706 [ NCBI ]
CGAP (NCI)Hs.737706
Alternative Splicing GalleryENSG00000162367
Gene ExpressionTAL1 [ NCBI-GEO ]   TAL1 [ EBI - ARRAY_EXPRESS ]   TAL1 [ SEEK ]   TAL1 [ MEM ]
Gene Expression Viewer (FireBrowse)TAL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6886
GTEX Portal (Tissue expression)TAL1
Human Protein AtlasENSG00000162367-TAL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17542   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP17542  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP17542
Splice isoforms : SwissVarP17542
PhosPhoSitePlusP17542
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)TAL1
DMDM Disease mutations6886
Blocks (Seattle)TAL1
PDB (SRS)2YPA    2YPB   
PDB (PDBSum)2YPA    2YPB   
PDB (IMB)2YPA    2YPB   
PDB (RSDB)2YPA    2YPB   
Structural Biology KnowledgeBase2YPA    2YPB   
SCOP (Structural Classification of Proteins)2YPA    2YPB   
CATH (Classification of proteins structures)2YPA    2YPB   
SuperfamilyP17542
Human Protein Atlas [tissue]ENSG00000162367-TAL1 [tissue]
Peptide AtlasP17542
HPRD01753
IPIIPI00747776   IPI00471993   IPI00218206   IPI00376954   
Protein Interaction databases
DIP (DOE-UCLA)P17542
IntAct (EBI)P17542
FunCoupENSG00000162367
BioGRIDTAL1
STRING (EMBL)TAL1
ZODIACTAL1
Ontologies - Pathways
QuickGOP17542
Ontology : AmiGOhistone deacetylase complex  negative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor binding  angiogenesis  chromatin binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  transcription factor complex  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  locomotory behavior  enzyme binding  spinal cord association neuron differentiation  hemopoiesis  erythrocyte differentiation  erythrocyte differentiation  megakaryocyte differentiation  platelet formation  basophil differentiation  positive regulation of protein complex assembly  Lsd1/2 complex  embryonic hemopoiesis  megakaryocyte development  regulation of cell proliferation  histone deacetylase binding  erythrocyte maturation  transcription regulatory region DNA binding  cell fate commitment  positive regulation of erythrocyte differentiation  positive regulation of erythrocyte differentiation  positive regulation of chromatin assembly or disassembly  positive regulation of transcription, DNA-templated  positive regulation of mitotic cell cycle  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  positive regulation of cell division  astrocyte fate commitment  definitive hemopoiesis  hemangioblast cell differentiation  hematopoietic stem cell differentiation  regulation of mast cell differentiation  E-box binding  regulation of stem cell population maintenance  
Ontology : EGO-EBIhistone deacetylase complex  negative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor binding  angiogenesis  chromatin binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  transcription factor complex  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  locomotory behavior  enzyme binding  spinal cord association neuron differentiation  hemopoiesis  erythrocyte differentiation  erythrocyte differentiation  megakaryocyte differentiation  platelet formation  basophil differentiation  positive regulation of protein complex assembly  Lsd1/2 complex  embryonic hemopoiesis  megakaryocyte development  regulation of cell proliferation  histone deacetylase binding  erythrocyte maturation  transcription regulatory region DNA binding  cell fate commitment  positive regulation of erythrocyte differentiation  positive regulation of erythrocyte differentiation  positive regulation of chromatin assembly or disassembly  positive regulation of transcription, DNA-templated  positive regulation of mitotic cell cycle  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  positive regulation of cell division  astrocyte fate commitment  definitive hemopoiesis  hemangioblast cell differentiation  hematopoietic stem cell differentiation  regulation of mast cell differentiation  E-box binding  regulation of stem cell population maintenance  
NDEx NetworkTAL1
Atlas of Cancer Signalling NetworkTAL1
Wikipedia pathwaysTAL1
Orthology - Evolution
OrthoDB6886
GeneTree (enSembl)ENSG00000162367
Phylogenetic Trees/Animal Genes : TreeFamTAL1
HOVERGENP17542
HOGENOMP17542
Homologs : HomoloGeneTAL1
Homology/Alignments : Family Browser (UCSC)TAL1
Gene fusions - Rearrangements
Fusion : MitelmanST3GAL3/TAL1 [1p34.1/1p33]  [t(1;1)(p33;p34)]  
Fusion : MitelmanTCTA/TAL1 [3p21.31/1p33]  [t(1;3)(p33;p21)]  
Fusion : MitelmanTRD/TAL1 [-/1p33]  [t(1;14)(p33;q11)]  
Fusion : COSMICSTIL [1p33]  -  TAL1 [1p33]  [fusion_2150]  [fusion_2151]  [fusion_2152]  [fusion_2153]  [fusion_2154]  [fusion_2155]  [fusion_2156]  
[fusion_2157]  [fusion_2158]  [fusion_2159]  [fusion_2160]  [fusion_2161]  [fusion_2162]  [fusion_2163]  [fusion_2164]  [fusion_2165]  [fusion_2166]  
[fusion_2167]  [fusion_2168]  [fusion_2169]  [fusion_2170]  [fusion_2171]  [fusion_2172]  [fusion_2173]  [fusion_2174]  [fusion_2175]  [fusion_2176]  
[fusion_2177]  [fusion_2178]  [fusion_2179]  [fusion_2180]  [fusion_2181]  [fusion_2183]  [fusion_2184]  [fusion_2185]  [fusion_2186]  [fusion_2187]  
[fusion_2188]  [fusion_2189]  [fusion_2190]  [fusion_2191]  [fusion_2192]  [fusion_2193]  [fusion_2194]  [fusion_2195]  [fusion_2196]  [fusion_2197]  
[fusion_2198]  [fusion_2199]  [fusion_2200]  [fusion_2201]  [fusion_2202]  [fusion_2203]  [fusion_2204]  [fusion_2205]  [fusion_2206]  [fusion_2207]  
[fusion_2208]  [fusion_2209]  [fusion_2210]  [fusion_2211]  [fusion_2212]  [fusion_2213]  [fusion_2214]  [fusion_2215]  [fusion_2216]  [fusion_2219]  
[fusion_2220]  [fusion_2221]  [fusion_2222]  [fusion_2223]  [fusion_2224]  [fusion_2225]  [fusion_2226]  [fusion_2227]  [fusion_2228]  [fusion_2229]  
[fusion_2230]  [fusion_2231]  [fusion_2232]  [fusion_2242]  [fusion_2243]  [fusion_2244]  
Fusion: TCGAST3GAL3 1p34.1 TAL1 1p33 BRCA
Fusion : TICdbTAL1 [1p33]  -  RHOA [3p21.31]
Fusion : TICdbTAL1 [1p33]  -  TCR []
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTAL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TAL1
dbVarTAL1
ClinVarTAL1
1000_GenomesTAL1 
Exome Variant ServerTAL1
ExAC (Exome Aggregation Consortium)ENSG00000162367
GNOMAD BrowserENSG00000162367
Genetic variants : HAPMAP6886
Genomic Variants (DGV)TAL1 [DGVbeta]
DECIPHERTAL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTAL1 
Mutations
ICGC Data PortalTAL1 
TCGA Data PortalTAL1 
Broad Tumor PortalTAL1
OASIS PortalTAL1 [ Somatic mutations - Copy number]
Cancer Gene: CensusTAL1 
Somatic Mutations in Cancer : COSMICTAL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTAL1
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 TAL1
DgiDB (Drug Gene Interaction Database)TAL1
DoCM (Curated mutations)TAL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TAL1 (select a term)
intoGenTAL1
NCG5 (London)TAL1
Cancer3DTAL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM187040    613065   
Orphanet14434   
MedgenTAL1
Genetic Testing Registry TAL1
NextProtP17542 [Medical]
TSGene6886
GENETestsTAL1
Target ValidationTAL1
Huge Navigator TAL1 [HugePedia]
snp3D : Map Gene to Disease6886
BioCentury BCIQTAL1
ClinGenTAL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6886
Chemical/Pharm GKB GenePA36326
Clinical trialTAL1
Miscellaneous
canSAR (ICR)TAL1 (select the gene name)
Probes
Litterature
PubMed115 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTAL1
EVEXTAL1
GoPubMedTAL1
iHOPTAL1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Oct 12 16:34:53 CEST 2017

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