Human Gene TAL1 (uc001cqx.2)
  Description: Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr1:47,681,963-47,695,443 Size: 13,481 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr1:47,685,392-47,691,560 Size: 6,169 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:47,681,963-47,695,443)mRNA (may differ from genome)Protein (331 aa)
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TAL1_HUMAN
DESCRIPTION: RecName: Full=T-cell acute lymphocytic leukemia protein 1; Short=TAL-1; AltName: Full=Class A basic helix-loop-helix protein 17; Short=bHLHa17; AltName: Full=Stem cell protein; AltName: Full=T-cell leukemia/lymphoma protein 5;
FUNCTION: Implicated in the genesis of hemopoietic malignancies. It may play an important role in hemopoietic differentiation. Serves as a positive regulator of erythroid differentiation (By similarity).
SUBUNIT: Efficient DNA binding requires dimerization with another bHLH protein. Forms heterodimers with TCF3. Binds to the LIM domain containing protein LMO2 and to DRG1. Can assemble in a complex with LDB1 and LMO2. Component of a TAL-1 complex composed at least of CBFA2T3, LDB1, TAL1 and TCF3 (By similarity).
INTERACTION: P25801:Lmo2 (xeno); NbExp=5; IntAct=EBI-1753878, EBI-3903256; P15923:TCF3; NbExp=4; IntAct=EBI-1753878, EBI-769630;
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Leukemic stem cell.
DOMAIN: The helix-loop-helix domain is necessary and sufficient for the interaction with DRG1.
PTM: Phosphorylated on serine residues. Phosphorylation of Ser-122 is strongly stimulated by hypoxia (By similarity).
PTM: Ubiquitinated; subsequent to hypoxia-dependent phosphorylation of Ser-122, ubiquitination targets the protein for rapid degradation via the ubiquitin system. This process may be characteristic for microvascular endothelial cells, since it could not be observed in large vessel endothelial cells (By similarity).
DISEASE: Note=A chromosomal aberration involving TAL1 may be a cause of some T-cell acute lymphoblastic leukemias (T-ALL). Translocation t(1;14)(p32;q11) with T-cell receptor alpha chain (TCRA) genes.
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TAL1.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TAL1
CDC HuGE Published Literature: TAL1

-  MalaCards Disease Associations
  MalaCards Gene Search: TAL1
Diseases sorted by gene-association score: precursor t-cell acute lymphoblastic leukemia* (247), leukemia, acute lymphoblastic* (236), t-cell acute lymphocytic leukemia-1* (129), acute lymphocytic leukemia (27), leukemia (20), cd3epsilon deficiency (16), t-cell leukemia (15), lymphoblastic lymphoma (14), lymphoblastic leukemia (10), acute erythroid leukemia (5), acute leukemia (4), diamond-blackfan anemia (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.11 RPKM in Lung
Total median expression: 87.02 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -228.31577-0.396 Picture PostScript Text
3' UTR -1198.513429-0.350 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011598 - HLH_dom

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain

SCOP Domains:
47459 - HLH, helix-loop-helix DNA-binding domain

ModBase Predicted Comparative 3D Structure on P17542
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000976 transcription regulatory region sequence-specific DNA binding
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001085 RNA polymerase II transcription factor binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0019899 enzyme binding
GO:0042826 histone deacetylase binding
GO:0044212 transcription regulatory region DNA binding
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity
GO:0070888 E-box binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001525 angiogenesis
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0007626 locomotory behavior
GO:0021527 spinal cord association neuron differentiation
GO:0030097 hemopoiesis
GO:0030099 myeloid cell differentiation
GO:0030154 cell differentiation
GO:0030182 neuron differentiation
GO:0030218 erythrocyte differentiation
GO:0030219 megakaryocyte differentiation
GO:0030220 platelet formation
GO:0030221 basophil differentiation
GO:0031334 positive regulation of protein complex assembly
GO:0035162 embryonic hemopoiesis
GO:0035855 megakaryocyte development
GO:0042127 regulation of cell proliferation
GO:0043249 erythrocyte maturation
GO:0045165 cell fate commitment
GO:0045637 regulation of myeloid cell differentiation
GO:0045648 positive regulation of erythrocyte differentiation
GO:0045799 positive regulation of chromatin assembly or disassembly
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045931 positive regulation of mitotic cell cycle
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048699 generation of neurons
GO:0051781 positive regulation of cell division
GO:0060018 astrocyte fate commitment
GO:0060216 definitive hemopoiesis
GO:0060217 hemangioblast cell differentiation
GO:0060218 hematopoietic stem cell differentiation
GO:0060375 regulation of mast cell differentiation
GO:1902036 regulation of hematopoietic stem cell differentiation
GO:2000036 regulation of stem cell population maintenance

Cellular Component:
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0032991 macromolecular complex
GO:0000118 histone deacetylase complex
GO:0033193 Lsd1/2 complex


-  Descriptions from all associated GenBank mRNAs
  DQ358744 - Homo sapiens STIL/TAL1 fusion transcript mRNA sequence.
S53245 - tal-1=34 kda helix-loop-helix protein [human, HEL cell line, mRNA, 4647 nt].
M29038 - Human stem cell protein (SCL) mRNA, complete cds.
M61108 - Human stem cell leukemia gene product mRNA, complete cds, and genomic DNA.
JD368816 - Sequence 349840 from Patent EP1572962.
JD211373 - Sequence 192397 from Patent EP1572962.
JD396909 - Sequence 377933 from Patent EP1572962.
JD389568 - Sequence 370592 from Patent EP1572962.
JD045441 - Sequence 26465 from Patent EP1572962.
JD557026 - Sequence 538050 from Patent EP1572962.
JD377420 - Sequence 358444 from Patent EP1572962.
JD124178 - Sequence 105202 from Patent EP1572962.
JD299716 - Sequence 280740 from Patent EP1572962.
JD438374 - Sequence 419398 from Patent EP1572962.
JD492521 - Sequence 473545 from Patent EP1572962.
JD425185 - Sequence 406209 from Patent EP1572962.
JD309561 - Sequence 290585 from Patent EP1572962.
JD382046 - Sequence 363070 from Patent EP1572962.
JD096544 - Sequence 77568 from Patent EP1572962.
JD074452 - Sequence 55476 from Patent EP1572962.
JD276475 - Sequence 257499 from Patent EP1572962.
JD159965 - Sequence 140989 from Patent EP1572962.
JD509999 - Sequence 491023 from Patent EP1572962.
JD146753 - Sequence 127777 from Patent EP1572962.
JD197424 - Sequence 178448 from Patent EP1572962.
JD064465 - Sequence 45489 from Patent EP1572962.
JD391730 - Sequence 372754 from Patent EP1572962.
JD070259 - Sequence 51283 from Patent EP1572962.
JD425880 - Sequence 406904 from Patent EP1572962.
JD152734 - Sequence 133758 from Patent EP1572962.
JD412382 - Sequence 393406 from Patent EP1572962.
JD212190 - Sequence 193214 from Patent EP1572962.
JD270042 - Sequence 251066 from Patent EP1572962.
JD546372 - Sequence 527396 from Patent EP1572962.
JD331141 - Sequence 312165 from Patent EP1572962.
JD119803 - Sequence 100827 from Patent EP1572962.
JD360713 - Sequence 341737 from Patent EP1572962.
JD289231 - Sequence 270255 from Patent EP1572962.
JD565359 - Sequence 546383 from Patent EP1572962.
JD350260 - Sequence 331284 from Patent EP1572962.
JD084326 - Sequence 65350 from Patent EP1572962.
JD175513 - Sequence 156537 from Patent EP1572962.
JD195394 - Sequence 176418 from Patent EP1572962.
JD418468 - Sequence 399492 from Patent EP1572962.
JD145869 - Sequence 126893 from Patent EP1572962.
JD145868 - Sequence 126892 from Patent EP1572962.
JD318905 - Sequence 299929 from Patent EP1572962.
JD120375 - Sequence 101399 from Patent EP1572962.
JD542441 - Sequence 523465 from Patent EP1572962.
JD118576 - Sequence 99600 from Patent EP1572962.
JD273620 - Sequence 254644 from Patent EP1572962.
X51990 - H.sapiens TAL1 mRNA.
JD190837 - Sequence 171861 from Patent EP1572962.
JD151608 - Sequence 132632 from Patent EP1572962.
M25747 - Human translocation t(1;14)(p33;q11) SCL gene.
JD182407 - Sequence 163431 from Patent EP1572962.
JD088608 - Sequence 69632 from Patent EP1572962.
JD096920 - Sequence 77944 from Patent EP1572962.
JD139129 - Sequence 120153 from Patent EP1572962.
JD066418 - Sequence 47442 from Patent EP1572962.
JD120243 - Sequence 101267 from Patent EP1572962.
JD251917 - Sequence 232941 from Patent EP1572962.
JD126975 - Sequence 107999 from Patent EP1572962.
JD068887 - Sequence 49911 from Patent EP1572962.
JD533167 - Sequence 514191 from Patent EP1572962.
JD524969 - Sequence 505993 from Patent EP1572962.
JD546716 - Sequence 527740 from Patent EP1572962.
BC144215 - Homo sapiens cDNA clone IMAGE:9052735, with apparent retained intron.
JD057999 - Sequence 39023 from Patent EP1572962.
JD136018 - Sequence 117042 from Patent EP1572962.
JD241106 - Sequence 222130 from Patent EP1572962.
JD241986 - Sequence 223010 from Patent EP1572962.
JD140871 - Sequence 121895 from Patent EP1572962.
JD216277 - Sequence 197301 from Patent EP1572962.
JD277961 - Sequence 258985 from Patent EP1572962.
JD527021 - Sequence 508045 from Patent EP1572962.
JD544888 - Sequence 525912 from Patent EP1572962.
BC160033 - Synthetic construct Homo sapiens clone IMAGE:100063969, MGC:193148 T-cell acute lymphocytic leukemia 1 (TAL1) mRNA, encodes complete protein.
AB464287 - Synthetic construct DNA, clone: pF1KB5636, Homo sapiens TAL1 gene for T-cell acute lymphocytic leukemia 1, without stop codon, in Flexi system.
S53691 - tal-1=EX1B-Ex4 [human, HEL cell line, mRNA Partial, 78 nt].
S53678 - tal-1=Ex1A-Ex4 [human, HEL cell line, mRNA Partial, 81 nt].
S53686 - tal-1=Ex1A-Ex2-Ex4 [human, HEL cell line, mRNA Partial, 237 nt].
JD404688 - Sequence 385712 from Patent EP1572962.
JD167063 - Sequence 148087 from Patent EP1572962.
JD392357 - Sequence 373381 from Patent EP1572962.
JD157825 - Sequence 138849 from Patent EP1572962.
JD507475 - Sequence 488499 from Patent EP1572962.
JD235117 - Sequence 216141 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P17542 (Reactome details) participates in the following event(s):

R-HSA-8956568 RUNX1 binds the core TAL1 complex
R-HSA-8956586 RUNX1-containing TAL1 complex binds the MYB gene enhancer
R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: BHLHA17, D3DQ24, NM_003189, NP_003180, P17542, SCL, TAL1_HUMAN, TCL5
UCSC ID: uc001cqx.2
RefSeq Accession: NM_003189
Protein: P17542 (aka TAL1_HUMAN or TAL_HUMAN)
CCDS: CCDS547.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003189.2
exon count: 4CDS single in 3' UTR: no RNA size: 5018
ORF size: 996CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1670.00frame shift in genome: no % Coverage: 99.68
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 420# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.