TAL1 (T-cell acute leukemia 1)

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TAL1 (T-cell acute leukemia 1)

Written	1997-08	Jean-Loup Huret, Marie-Claude Labastie
		Institut d'Embryologie Cellulaire et Moléculaire, CNRS FRE 216O, 94736, Nogent-sur-Marne Cedex, France
Updated	1998-03	Jean-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_names	TCL5
	T-cell acute lymphocytic leukemia 1
Alias_symbol (synonym)	SCL
	bHLHa17
Other alias	SCL (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 2016)	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) / TRA ()	TAL1 (1p33) / TRBV20OR9-2 ()	TAL1 (1p33) / TRD ()
	TCTA (3p21.31) / TAL1 (1p33)	TRA () / TAL1 (1p33)	TRB () / TAL1 (1p33)
	TRD () / 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-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

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
Atlas	TAL1ID15
Entrez_Gene (NCBI)	TAL1 6886 TAL bHLH transcription factor 1, erythroid differentiation factor
Aliases	SCL; 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 DataPortal	ENSG00000162367
TCGA cBioPortal	TAL1
AceView (NCBI)	TAL1
Genatlas (Paris)	TAL1
WikiGenes	6886
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)
Ensembl	TAL1 - 1p33 [CytoView hg19] TAL1 - 1p33 [CytoView hg38]
Mapping of homologs : NCBI	TAL1 [Mapview hg19] TAL1 [Mapview hg38]
OMIM	187040 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 : Unigene	Hs.737706 [ NCBI ]
CGAP (NCI)	Hs.737706
Alternative Splicing Gallery	ENSG00000162367
Gene Expression	TAL1 [ 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]
Genevisible	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	6886
GTEX Portal (Tissue expression)	TAL1
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P17542 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	P17542 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	P17542
Splice isoforms : SwissVar	P17542
PhosPhoSitePlus	P17542
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 mutations	6886
Blocks (Seattle)	TAL1
PDB (SRS)	2YPA 2YPB
PDB (PDBSum)	2YPA 2YPB
PDB (IMB)	2YPA 2YPB
PDB (RSDB)	2YPA 2YPB
Structural Biology KnowledgeBase	2YPA 2YPB
SCOP (Structural Classification of Proteins)	2YPA 2YPB
CATH (Classification of proteins structures)	2YPA 2YPB
Superfamily	P17542
Human Protein Atlas	ENSG00000162367
Peptide Atlas	P17542
HPRD	01753
IPI	IPI00747776 IPI00471993 IPI00218206 IPI00376954
	Protein Interaction databases
DIP (DOE-UCLA)	P17542
IntAct (EBI)	P17542
FunCoup	ENSG00000162367
BioGRID	TAL1
STRING (EMBL)	TAL1
ZODIAC	TAL1
	Ontologies - Pathways
QuickGO	P17542
Ontology : AmiGO	histone 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-EBI	histone 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 Network	TAL1
Atlas of Cancer Signalling Network	TAL1
Wikipedia pathways	TAL1
	Orthology - Evolution
OrthoDB	6886
GeneTree (enSembl)	ENSG00000162367
Phylogenetic Trees/Animal Genes : TreeFam	TAL1
HOVERGEN	P17542
HOGENOM	P17542
Homologs : HomoloGene	TAL1
Homology/Alignments : Family Browser (UCSC)	TAL1
	Gene fusions - Rearrangements
Fusion : Mitelman	ST3GAL3/TAL1 [1p34.1/1p33] [t(1;1)(p33;p34)]
Fusion : Mitelman	TCTA/TAL1 [3p21.31/1p33] [t(1;3)(p33;p21)]
Fusion : Mitelman	TRD/TAL1 [-/1p33] [t(1;14)(p33;q11)]
Fusion : COSMIC	STIL [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: TCGA	ST3GAL3 1p34.1 TAL1 1p33 BRCA
Fusion : TICdb	TAL1 [1p33] - RHOA [3p21.31]
Fusion : TICdb	TAL1 [1p33] - TCR []
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	TAL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	TAL1
dbVar	TAL1
ClinVar	TAL1
1000_Genomes	TAL1
Exome Variant Server	TAL1
ExAC (Exome Aggregation Consortium)	TAL1 (select the gene name)
Genetic variants : HAPMAP	6886
Genomic Variants (DGV)	TAL1 [DGVbeta]
DECIPHER	TAL1 [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	TAL1
	Mutations
ICGC Data Portal	TAL1
TCGA Data Portal	TAL1
Broad Tumor Portal	TAL1
OASIS Portal	TAL1 [ Somatic mutations - Copy number]
Cancer Gene: Census	TAL1
Somatic Mutations in Cancer : COSMIC	TAL1 [overview] [genome browser] [tissue] [distribution]
Mutations and Diseases : HGMD	TAL1
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
BioMuta	search 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)
intoGen	TAL1
NCG5 (London)	TAL1
Cancer3D	TAL1(select the gene name)
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	187040 613065
Orphanet	14434
Medgen	TAL1
Genetic Testing Registry	TAL1
NextProt	P17542 [Medical]
TSGene	6886
GENETests	TAL1
Target Validation	TAL1
Huge Navigator	TAL1 [HugePedia]
snp3D : Map Gene to Disease	6886
BioCentury BCIQ	TAL1
ClinGen	TAL1
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	6886
Chemical/Pharm GKB Gene	PA36326
Clinical trial	TAL1
	Miscellaneous
canSAR (ICR)	TAL1 (select the gene name)
	Probes
	Litterature
PubMed	115 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	TAL1
EVEX	TAL1
GoPubMed	TAL1
iHOP	TAL1

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Fri Jun 30 11:19:27 CEST 2017

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