Reviewed, UniProtKB/Swiss-Prot P17542 (TAL1_HUMAN)

Names and origin

Protein names

Recommended name:
    T-cell acute lymphocytic leukemia protein 1
      Short name=TAL-1
Alternative name(s):
    Stem cell protein
    T-cell leukemia/lymphoma protein 5

Gene names

Name:	TAL1
Synonyms:	SCL, TCL5

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	331 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

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 structure	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.
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.
Post-translational modification	Phosphorylated on serine residues. Phosphorylation of Ser-122 is strongly stimulated by hypoxia By similarity. 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.
Involvement in disease	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.
Sequence similarities	Contains 1 basic helix-loop-helix (bHLH) domain.

Ontologies

Keywords
Biological process	Differentiation Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement
Disease	Proto-oncogene
Ligand	DNA-binding
Molecular function	Developmental protein
PTM	Phosphoprotein Ubl conjugation
Gene Ontology (GO)
Biological process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW cell proliferation Ref.5 Traceable author statement. Source: ProtInc multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from sequence or structural similarity. Source: UniProtKB
Molecular function	DNA binding Ref.5 Traceable author statement. Source: ProtInc protein binding Inferred from physical interaction. Source: IntAct transcription regulator activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CRK	P46108	1	EBI-1753878,EBI-886
DRG1	Q9Y295	2	EBI-1753878,EBI-719554
TCF4	P15884	2	EBI-1753878,EBI-533224

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Note: The splicing pattern is cell-lineage dependent.

Isoform PP42-TAL1 (identifier: P17542-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform PP39-TAL1 (identifier: P17542-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: Missing.

Isoform PP22-TAL1 (identifier: P17542-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-175: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 331	331	T-cell acute lymphocytic leukemia protein 1		PRO_0000127454
Regions
	Domain	200 – 240	41	Helix-loop-helix motif
	DNA binding	187 – 199	13	Basic motif
	Compositional bias	89 – 132	44	Pro-rich
	Compositional bias	263 – 274	12	Poly-Gly
Amino acid modifications
	Modified residue	122	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 175	175	Missing in isoform PP22-TAL1.		VSP_002154
	Alternative sequence	1 – 25	25	Missing in isoform PP39-TAL1.		VSP_002153

Sequences

	Sequence		Length	Mass (Da)
	Isoform PP42-TAL1 [UniParc]. Last modified November 1, 1991. Version 2. Checksum: 33BBE31589DBB7C7	FASTA	331	34,271
	10 20 30 40 50 60 MTERPPSEAA RSDPQLEGRD AAEASMAPPH LVLLNGVAKE TSRAAAAEPP VIELGARGGP 70 80 90 100 110 120 GGGPAGGGGA ARDLKGRDAA TAEARHRVPT TELCRPPGPA PAPAPASVTA ELPGDGRMVQ 130 140 150 160 170 180 LSPPALAAPA APGRALLYSL SQPLASLGSG FFGEPDAFPM FTTNNRVKRR PSPYEMEITD 190 200 210 220 230 240 GPHTKVVRRI FTNSRERWRQ QNVNGAFAEL RKLIPTHPPD KKLSKNEILR LAMKYINFLA 250 260 270 280 290 300 KLLNDQEEEG TQRAKTGKDP VVGAGGGGGG GGGGAPPDDL LQDVLSPNSS CGSSLDGAAS 310 320 330 PDSYTEEPAP KHTARSLHPA MLPAADGAGP R
	Isoform PP39-TAL1. Checksum: 4457C743678771FE	FASTA	306	31,617
	10 20 30 40 50 60 MAPPHLVLLN GVAKETSRAA AAEPPVIELG ARGGPGGGPA GGGGAARDLK GRDAATAEAR 70 80 90 100 110 120 HRVPTTELCR PPGPAPAPAP ASVTAELPGD GRMVQLSPPA LAAPAAPGRA LLYSLSQPLA 130 140 150 160 170 180 SLGSGFFGEP DAFPMFTTNN RVKRRPSPYE MEITDGPHTK VVRRIFTNSR ERWRQQNVNG 190 200 210 220 230 240 AFAELRKLIP THPPDKKLSK NEILRLAMKY INFLAKLLND QEEEGTQRAK TGKDPVVGAG 250 260 270 280 290 300 GGGGGGGGGA PPDDLLQDVL SPNSSCGSSL DGAASPDSYT EEPAPKHTAR SLHPAMLPAA DGAGPR
	Isoform PP22-TAL1. Checksum: 5BC0D5F12E261CDE	FASTA	156	16,548
	10 20 30 40 50 60 MEITDGPHTK VVRRIFTNSR ERWRQQNVNG AFAELRKLIP THPPDKKLSK NEILRLAMKY 70 80 90 100 110 120 INFLAKLLND QEEEGTQRAK TGKDPVVGAG GGGGGGGGGA PPDDLLQDVL SPNSSCGSSL 130 140 150 DGAASPDSYT EEPAPKHTAR SLHPAMLPAA DGAGPR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The SCL gene is formed from a transcriptionally complex locus." Aplan P.D., Begley C.G., Bertness V., Nussmeier M., Ezquerra A., Coligan J., Kirsch I.R. Mol. Cell. Biol. 10:6426-6435(1990) [PubMed: 2247063] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], ALTERNATIVE SPLICING.
[2]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Coding sequences of the tal-1 gene are disrupted by chromosome translocation in human T cell leukemia." Chen Q., Yang C.Y.C., Tsan J.T., Xia Y., Ragab A.H., Peiper S.C., Carroll A., Baer R. J. Exp. Med. 172:1403-1408(1990) [PubMed: 2230650] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 106-148.
[4]	"The gene SCL is expressed during early hematopoiesis and encodes a differentiation-related DNA-binding motif." Begley C.G., Aplan P.D., Denning S.M., Haynes B.F., Waldmann T.A., Kirsch I.R. Proc. Natl. Acad. Sci. U.S.A. 86:10128-10132(1989) [PubMed: 2602361] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 118-331. Tissue: Bone marrow.
[5]	"The tal gene undergoes chromosome translocation in T cell leukemia and potentially encodes a helix-loop-helix protein." Chen Q., Cheng J.-T., Tsai L.H., Schneider N., Buchanan G., Carroll A., Crist W., Ozanne B., Siciliano M.J., Baer R. EMBO J. 9:415-424(1990) [PubMed: 2303035] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 181-331.
[6]	"The SCL gene product: a positive regulator of erythroid differentiation." Aplan P.D., Nakahara K., Orkin S.H., Kirsch I.R. EMBO J. 11:4073-4081(1992) [PubMed: 1396592] [Abstract] Cited for: FUNCTION.
[7]	"Products of the TAL1 oncogene: basic helix-loop-helix proteins phosphorylated at serine residues." Cheng J.-T., Hsu H.-L., Hwang L.-Y., Baer R. Oncogene 8:677-683(1993) [PubMed: 8437851] [Abstract] Cited for: PHOSPHORYLATION.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBLGenBankDDBJ	M61108 mRNA. Translation: AAA36600.1. M61103 Genomic DNA. No translation available. M61104 Genomic DNA. No translation available. M61105 Genomic DNA. No translation available. M63572 Genomic DNA. No translation available. M63589, M63576, M63584 Genomic DNA. Translation: AAA36599.1. AL135960 Genomic DNA. Translation: CAB72103.1. X58621 Genomic DNA. Translation: CAA41476.1. Sequence problems. X58622 Genomic DNA. Translation: CAA41477.1. M29038 mRNA. Translation: AAA36598.1. X51990 mRNA. Translation: CAA36246.1.
IPI	IPI00218206. IPI00471993. IPI00747776.
PIR	A36358. I38253.
RefSeq	NP_003180.1.
UniGene	Hs.705618 Hs.709194
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	P17542. 5 interactions.
PTM databases
PhosphoSite	P17542.
Proteomic databases
PRIDE	P17542.
Genome annotation databases
Ensembl	ENSG00000162367. Homo sapiens. [Contig view]
GeneID	6886.
KEGG	hsa:6886.
Organism-specific databases
GeneCards	GC01M047454.
H-InvDB	HIX0000560. HIX0029300.
HGNC	HGNC:11556. TAL1.
HPA	CAB017805.
MIM	187040. gene.
Orphanet	513. Leukemia, lymphoblastic, acute.
PharmGKB	PA28200.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	P17542.
Gene expression databases
ArrayExpress	P17542.
Bgee	P17542.
CleanEx	HS_TAL1.
GermOnline	ENSG00000162367. Homo sapiens.
Family and domain databases
InterPro	IPR001092. HLH_basic. IPR011598. HLH_DNA_bd. [Graphical view]
Gene3D	G3DSA:4.10.280.10. HLH_DNA_bd. 1 hit.
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
PROSITE	PS50888. HLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	26909.
PMAP-CutDB	P17542.
SOURCE	Search...

Entry information

Entry name

TAL1_HUMAN

Accession

Primary (citable) accession number: P17542

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 1, 1990
Last sequence update:	November 1, 1991
Last modified:	June 16, 2009
This is version 98 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)