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TAL1 (T-cell acute leukemia 1)

Written1998-03Jean-Loup Huret, Marie-Claude Labastie
Institut d'Embryologie Cellulaire et Moléculaire, CNRS FRE 216O, 94736, Nogent-sur-Marne Cedex, France
This article is an update of :
1997-08Jean-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 (NCBI)SCL (stem cell leukaemia), TCL5 (T cell leukaemia 5)
HGNC (Hugo) TAL1
HGNC Alias symbSCL
bHLHa17
HGNC Previous nameTCL5
HGNC Previous nameT-cell acute lymphocytic leukemia 1
LocusID (NCBI) 6886
Atlas_Id 15
Location 1p33  [Link to chromosome band 1p33]
Location_base_pair Starts at 47216290 and ends at 47232335 bp from pter ( according to GRCh38/hg38-Dec_2013)  [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 or /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-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 ]
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) [ 17 ]
  Pediatric T-Cell Acute Lymphoblastic Leukemia
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(7;11)(q34;p15) TRB::LMO1::t(11;14)(p15;q11) TRD::LMO1
TAL1 (1p32) deletion in lymphoid malignancies
Classification of T-Cell disorders
t(1;1)(p33;q25) DHX09::TAL1
t(1;1)(p33;q25) DHX9::TAL1
t(1;1)(p33;q42) GNPAT::TAL1
t(1;14)(p33;q11) TAL1::TRA
t(1;14)(p33;q11) TRD::TAL1


External links

 

Nomenclature
HGNC (Hugo)TAL1   11556
Cards
AtlasTAL1ID15
Entrez_Gene (NCBI)TAL1    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]  ENSG00000162367 [Sequence]  chr1:47216290-47232335 [Contig_View]  TAL1 [Vega]
ICGC DataPortalENSG00000162367
TCGA cBioPortalTAL1
AceView (NCBI)TAL1
Genatlas (Paris)TAL1
SOURCE (Princeton)TAL1
Genetics Home Reference (NIH)TAL1
Genomic and cartography
GoldenPath hg38 (UCSC)TAL1  -     chr1:47216290-47232335 -  1p33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TAL1  -     1p33   [Description]    (hg19-Feb_2009)
GoldenPathTAL1 - 1p33 [CytoView hg19]  TAL1 - 1p33 [CytoView hg38]
ImmunoBaseENSG00000162367
Genome Data Viewer NCBITAL1 [Mapview hg19]  
OMIM187040   613065   
Gene and transcription
Genbank (Entrez)BC144215 BQ186967 M61108 N71056 S53245
RefSeq transcript (Entrez)NM_001287347 NM_001290403 NM_001290404 NM_001290405 NM_001290406 NM_003189
Consensus coding sequences : CCDS (NCBI)TAL1
Gene ExpressionTAL1 [ NCBI-GEO ]   TAL1 [ EBI - ARRAY_EXPRESS ]   TAL1 [ SEEK ]   TAL1 [ MEM ]
Gene Expression Viewer (FireBrowse)TAL1 [ Firebrowse - Broad ]
GenevisibleExpression of TAL1 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
PhosPhoSitePlusP17542
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom    HLH_DNA-bd_sf    TAL-like   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)TAL1
PDB (RSDB)2YPA    2YPB   
PDB Europe2YPA    2YPB   
PDB (PDBSum)2YPA    2YPB   
PDB (IMB)2YPA    2YPB   
Structural Biology KnowledgeBase2YPA    2YPB   
SCOP (Structural Classification of Proteins)2YPA    2YPB   
CATH (Classification of proteins structures)2YPA    2YPB   
SuperfamilyP17542
AlphaFold pdb e-kbP17542   
Human Protein Atlas [tissue]ENSG00000162367-TAL1 [tissue]
HPRD01753
Protein Interaction databases
DIP (DOE-UCLA)P17542
IntAct (EBI)P17542
BioGRIDTAL1
STRING (EMBL)TAL1
ZODIACTAL1
Ontologies - Pathways
QuickGOP17542
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  chromatin  chromatin  transcription cis-regulatory region binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  angiogenesis  chromatin binding  DNA-binding transcription factor activity  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription regulator complex  regulation of transcription by RNA polymerase II  regulation of transcription by RNA polymerase II  transcription by RNA polymerase II  activation of transmembrane receptor protein tyrosine kinase activity  locomotory behavior  enzyme binding  spinal cord association neuron differentiation  hemopoiesis  erythrocyte differentiation  erythrocyte differentiation  megakaryocyte differentiation  platelet formation  basophil differentiation  transmembrane receptor protein tyrosine kinase activator activity  positive regulation of protein-containing complex assembly  embryonic hemopoiesis  megakaryocyte development  regulation of cell population proliferation  histone deacetylase binding  erythrocyte maturation  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 by RNA polymerase II  protein dimerization activity  positive regulation of cell division  astrocyte fate commitment  definitive hemopoiesis  hemangioblast cell differentiation  hematopoietic stem cell differentiation  regulation of mast cell differentiation  RNA polymerase II-specific DNA-binding transcription factor binding  E-box binding  regulation of hematopoietic stem cell differentiation  regulation of stem cell population maintenance  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  chromatin  chromatin  transcription cis-regulatory region binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  angiogenesis  chromatin binding  DNA-binding transcription factor activity  protein binding  nucleus  nucleoplasm  nucleoplasm  transcription regulator complex  regulation of transcription by RNA polymerase II  regulation of transcription by RNA polymerase II  transcription by RNA polymerase II  activation of transmembrane receptor protein tyrosine kinase activity  locomotory behavior  enzyme binding  spinal cord association neuron differentiation  hemopoiesis  erythrocyte differentiation  erythrocyte differentiation  megakaryocyte differentiation  platelet formation  basophil differentiation  transmembrane receptor protein tyrosine kinase activator activity  positive regulation of protein-containing complex assembly  embryonic hemopoiesis  megakaryocyte development  regulation of cell population proliferation  histone deacetylase binding  erythrocyte maturation  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 by RNA polymerase II  protein dimerization activity  positive regulation of cell division  astrocyte fate commitment  definitive hemopoiesis  hemangioblast cell differentiation  hematopoietic stem cell differentiation  regulation of mast cell differentiation  RNA polymerase II-specific DNA-binding transcription factor binding  E-box binding  regulation of hematopoietic stem cell differentiation  regulation of stem cell population maintenance  
REACTOMEP17542 [protein]
REACTOME PathwaysR-HSA-8939236 [pathway]   
NDEx NetworkTAL1
Atlas of Cancer Signalling NetworkTAL1
Wikipedia pathwaysTAL1
Orthology - Evolution
OrthoDB6886
GeneTree (enSembl)ENSG00000162367
Phylogenetic Trees/Animal Genes : TreeFamTAL1
Homologs : HomoloGeneTAL1
Homology/Alignments : Family Browser (UCSC)TAL1
Gene fusions - Rearrangements
Fusion : MitelmanST3GAL3::TAL1 [1p34.1/1p33]  
Fusion : MitelmanTCTA::TAL1 [3p21.31/1p33]  
Fusion : MitelmanTRD::TAL1 [-/1p33]  
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 : QuiverTAL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTAL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TAL1
dbVarTAL1
ClinVarTAL1
MonarchTAL1
1000_GenomesTAL1 
Exome Variant ServerTAL1
GNOMAD BrowserENSG00000162367
Varsome BrowserTAL1
ACMGTAL1 variants
VarityP17542
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]  
Somatic Mutations in Cancer : COSMIC3DTAL1
Mutations and Diseases : HGMDTAL1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTAL1
DgiDB (Drug Gene Interaction Database)TAL1
DoCM (Curated mutations)TAL1
CIViC (Clinical Interpretations of Variants in Cancer)TAL1
OncoKBTAL1
NCG (London)TAL1
Cancer3DTAL1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM187040    613065   
Orphanet14434   
DisGeNETTAL1
MedgenTAL1
Genetic Testing Registry TAL1
NextProtP17542 [Medical]
GENETestsTAL1
Target ValidationTAL1
Huge Navigator TAL1 [HugePedia]
ClinGenTAL1
Clinical trials, drugs, therapy
MyCancerGenomeTAL1
Protein Interactions : CTDTAL1
Pharm GKB GenePA36326
PharosP17542
Clinical trialTAL1
Miscellaneous
canSAR (ICR)TAL1
HarmonizomeTAL1
DataMed IndexTAL1
Probes
Litterature
PubMed137 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTAL1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:29:06 CEST 2021

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