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T-cell acute lymphocytic leukemia protein 1 homolog (TAL-1) (Stem cell protein) (zSCL)

 TAL1_DANRE              Reviewed;         324 AA.
O93507; A4UTQ6; O57562; Q90W24;
26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
01-NOV-1998, sequence version 1.
25-OCT-2017, entry version 122.
RecName: Full=T-cell acute lymphocytic leukemia protein 1 homolog;
Short=TAL-1;
AltName: Full=Stem cell protein;
Short=zSCL;
Name=tal1 {ECO:0000312|ZFIN:ZDB-GENE-980526-501};
Synonyms=scl {ECO:0000303|PubMed:17472439,
ECO:0000303|PubMed:9670018}, tal-1 {ECO:0000312|EMBL:AAC41264.1};
ORFNames=si:ch211-135j1.3;
Danio rerio (Zebrafish) (Brachydanio rerio).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
Cyprinidae; Danio.
NCBI_TaxID=7955;
[1] {ECO:0000305, ECO:0000312|EMBL:AAC36057.1}
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ALPHA), FUNCTION, AND TISSUE
SPECIFICITY.
TISSUE=Embryo {ECO:0000269|PubMed:9670018};
PubMed=9670018; DOI=10.1093/emboj/17.14.4029;
Gering M., Rodaway A.R.F., Goettgens B., Patient R.K., Green A.R.;
"The SCL gene specifies haemangioblast development from early
mesoderm.";
EMBO J. 17:4029-4045(1998).
[2] {ECO:0000305, ECO:0000312|EMBL:AAC41264.1}
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ALPHA), FUNCTION, AND TISSUE
SPECIFICITY.
TISSUE=Angioblast {ECO:0000269|PubMed:9499398};
PubMed=9499398; DOI=10.1101/gad.12.5.621;
Liao E.C., Paw B.H., Oates A.C., Pratt S.J., Postlethwait J.H.,
Zon L.I.;
"SCL/Tal-1 transcription factor acts downstream of cloche to specify
hematopoietic and vascular progenitors in zebrafish.";
Genes Dev. 12:621-626(1998).
[3] {ECO:0000305, ECO:0000312|EMBL:ABO77946.1}
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS ALPHA AND BETA), FUNCTION, TISSUE
SPECIFICITY, AND DEVELOPMENTAL STAGE.
PubMed=17472439; DOI=10.1371/journal.pbio.0050132;
Qian F., Zhen F., Xu J., Huang M., Li W., Wen Z.;
"Distinct functions for different scl isoforms in zebrafish primitive
and definitive hematopoiesis.";
PLoS Biol. 5:1110-1119(2007).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
STRAIN=Tuebingen;
PubMed=23594743; DOI=10.1038/nature12111;
Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C.,
Muffato M., Collins J.E., Humphray S., McLaren K., Matthews L.,
McLaren S., Sealy I., Caccamo M., Churcher C., Scott C., Barrett J.C.,
Koch R., Rauch G.J., White S., Chow W., Kilian B., Quintais L.T.,
Guerra-Assuncao J.A., Zhou Y., Gu Y., Yen J., Vogel J.H., Eyre T.,
Redmond S., Banerjee R., Chi J., Fu B., Langley E., Maguire S.F.,
Laird G.K., Lloyd D., Kenyon E., Donaldson S., Sehra H.,
Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
Clee C., Oliver K., Clark R., Riddle C., Eliott D., Threadgold G.,
Harden G., Ware D., Mortimer B., Kerry G., Heath P., Phillimore B.,
Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S., Pelan S.,
Griffiths G., Smith M., Glithero R., Howden P., Barker N., Stevens C.,
Harley J., Holt K., Panagiotidis G., Lovell J., Beasley H.,
Henderson C., Gordon D., Auger K., Wright D., Collins J., Raisen C.,
Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
Humphries M., Sycamore N., Barker D., Saunders D., Wallis J.,
Babbage A., Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S.,
Wray P., Ellington A., Matthews N., Ellwood M., Woodmansey R.,
Clark G., Cooper J., Tromans A., Grafham D., Skuce C., Pandian R.,
Andrews R., Harrison E., Kimberley A., Garnett J., Fosker N., Hall R.,
Garner P., Kelly D., Bird C., Palmer S., Gehring I., Berger A.,
Dooley C.M., Ersan-Urun Z., Eser C., Geiger H., Geisler M.,
Karotki L., Kirn A., Konantz J., Konantz M., Oberlander M.,
Rudolph-Geiger S., Teucke M., Osoegawa K., Zhu B., Rapp A., Widaa S.,
Langford C., Yang F., Carter N.P., Harrow J., Ning Z., Herrero J.,
Searle S.M., Enright A., Geisler R., Plasterk R.H., Lee C.,
Westerfield M., de Jong P.J., Zon L.I., Postlethwait J.H.,
Nusslein-Volhard C., Hubbard T.J., Roest Crollius H., Rogers J.,
Stemple D.L.;
"The zebrafish reference genome sequence and its relationship to the
human genome.";
Nature 496:498-503(2013).
[5] {ECO:0000305, ECO:0000312|EMBL:CAK04103.1}
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM ALPHA).
TISSUE=Embryo {ECO:0000312|EMBL:AAH68324.1};
NIH - Zebrafish Gene Collection (ZGC) project;
Submitted (APR-2004) to the EMBL/GenBank/DDBJ databases.
[6] {ECO:0000305}
TISSUE SPECIFICITY.
PubMed=10208748; DOI=10.1006/dbio.1999.9236;
Sinclair A.M., Goettgens B., Barton L.M., Stanley M.L., Pardanaud L.,
Klaine M., Gering M., Bahn S., Sanchez M.-J., Bench A.J.,
Fordham J.L., Bockamp E.-O., Green A.R.;
"Distinct 5' SCL enhancers direct transcription to developing brain,
spinal cord, and endothelium: neural expression is mediated by GATA
factor binding sites.";
Dev. Biol. 209:128-142(1999).
[7] {ECO:0000305}
FUNCTION.
PubMed=11003831;
Liao W., Ho C.-Y., Yan Y.L., Postlethwait J.H., Stainier D.Y.R.;
"Hhex and scl function in parallel to regulate early endothelial and
blood differentiation in zebrafish.";
Development 127:4303-4313(2000).
[8] {ECO:0000305}
TISSUE SPECIFICITY.
PubMed=11381108; DOI=10.1073/pnas.101532998;
Barton L.M., Goettgens B., Gering M., Gilbert J.G.R., Grafham D.,
Rogers J., Bentley D., Patient R.K., Green A.R.;
"Regulation of the stem cell leukemia (SCL) gene: a tale of two
fishes.";
Proc. Natl. Acad. Sci. U.S.A. 98:6747-6752(2001).
[9] {ECO:0000305}
FUNCTION.
PubMed=14602685; DOI=10.1242/dev.00875;
Gering M., Yamada Y., Rabbitts T.H., Patient R.K.;
"Lmo2 and Scl/Tal1 convert non-axial mesoderm into haemangioblasts
which differentiate into endothelial cells in the absence of Gata1.";
Development 130:6187-6199(2003).
[10] {ECO:0000305}
FUNCTION.
PubMed=15644413; DOI=10.1182/blood-2004-09-3547;
Patterson L.J., Gering M., Patient R.K.;
"Scl is required for dorsal aorta as well as blood formation in
zebrafish embryos.";
Blood 105:3502-3511(2005).
[11] {ECO:0000305}
FUNCTION.
PubMed=15617691; DOI=10.1016/j.ydbio.2004.09.004;
Dooley K.A., Davidson A.J., Zon L.I.;
"Zebrafish scl functions independently in hematopoietic and
endothelial development.";
Dev. Biol. 277:522-536(2005).
[12] {ECO:0000305}
FUNCTION, AND MUTAGENESIS OF 193-ARG--ARG-195.
PubMed=16210319; DOI=10.1074/jbc.M507998200;
Juarez M.A., Su F., Chun S., Kiel M.J., Lyons S.E.;
"Distinct roles for SCL in erythroid specification and maturation in
zebrafish.";
J. Biol. Chem. 280:41636-41644(2005).
[13] {ECO:0000305}
FUNCTION.
PubMed=17090656; DOI=10.1182/blood-2006-02-003087;
Patterson L.J., Gering M., Eckfeldt C.E., Green A.R., Verfaillie C.M.,
Ekker S.C., Patient R.K.;
"The transcription factors Scl and Lmo2 act together during
development of the hemangioblast in zebrafish.";
Blood 109:2389-2398(2007).
[14] {ECO:0000305}
FUNCTION, AND TISSUE SPECIFICITY.
PubMed=17722983; DOI=10.1371/journal.pgen.0030140;
Bussmann J., Bakkers J., Schulte-Merker S.;
"Early endocardial morphogenesis requires Scl/Tal1.";
PLoS Genet. 3:1425-1437(2007).
-!- FUNCTION: Transcription factor that plays a pivotal role in
hemopoietic and endothelial development, acting synergistically
with lmo2 and downstream of clo. Specifies mesodermal precursors
to a hemangioblast cell fate. Hemangioblasts are bipotential
precursors of blood and endothelium, and in the absence of
hemopoietic induction cues such as gata1, tal1/scl-lmo2-induced
hemangioblasts differentiate into endothelial cells. Isoform alpha
and isoform beta are redundant for the initiation of primitive
hemopoiesis but have distinct roles in the regulation of primitive
erythroid differentiation and definitive hemopoietic stem cell
specification, most likely due to differences in expression
levels. Specification of definitive hemopoietic stem cells
requires isoform beta. DNA binding is required for erythroid
maturation, but not for its other hemopoietic functions.
Endothelial roles include development of the dorsal aorta, the
site of definitive hemopoiesis in the embryo. Required for
angiogenesis but not angioblast specification. Has an additional
role in endocardium formation during heart development. May play a
role in central nervous system development.
{ECO:0000269|PubMed:11003831, ECO:0000269|PubMed:14602685,
ECO:0000269|PubMed:15617691, ECO:0000269|PubMed:15644413,
ECO:0000269|PubMed:16210319, ECO:0000269|PubMed:17090656,
ECO:0000269|PubMed:17472439, ECO:0000269|PubMed:17722983,
ECO:0000269|PubMed:9499398, ECO:0000269|PubMed:9670018}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P22091,
ECO:0000255|PROSITE-ProRule:PRU00981}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=alpha {ECO:0000269|PubMed:17472439,
ECO:0000269|PubMed:9499398, ECO:0000269|PubMed:9670018};
IsoId=O93507-1; Sequence=Displayed;
Name=beta {ECO:0000269|PubMed:17472439};
IsoId=O93507-2; Sequence=VSP_052683;
-!- TISSUE SPECIFICITY: Expressed in hemopoietic and endothelial
lineages. Isoform beta emerges first, expressing in the entire
anterior and posterior lateral mesoderm (ALM and PLM
respectively), and in the ventral wall of the dorsal aorta, where
definitive hemopoiesis begins. Isoform alpha expresses later as
two pairs of stripes in the PLM and ALM, and becomes restricted to
the intermediate cell mass (ICM) by the 18-somite stage. The ICM
is the key site of primitive hemopoiesis, giving rise to the
erythroid lineage. Also expressed in all stages of endocardial
cell migration and in the developing midbrain, hindbrain and
spinal cord. In adults, expressed in the main hemopoietic organs,
namely the kidney (where isoform alpha is the predominant isoform)
and the spleen. Also expressed in the liver, gill and gonads.
{ECO:0000269|PubMed:10208748, ECO:0000269|PubMed:11381108,
ECO:0000269|PubMed:17472439, ECO:0000269|PubMed:17722983,
ECO:0000269|PubMed:9499398, ECO:0000269|PubMed:9670018}.
-!- DEVELOPMENTAL STAGE: Expression of isoform beta begins at the 1-2
somite stage, peaks at the 11-18 somite stage, and is maintained
at a lower level in the adult kidney. Isoform alpha isn't
expressed until the 4-somite stage, after which expression levels
rapidly increase. {ECO:0000269|PubMed:17472439}.
-!- SEQUENCE CAUTION:
Sequence=AAC41264.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Sequence=AAC41264.1; Type=Frameshift; Positions=129, 130, 138, 303; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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-----------------------------------------------------------------------
EMBL; AF038873; AAC36057.1; -; mRNA.
EMBL; AF045432; AAC41264.1; ALT_SEQ; mRNA.
EMBL; EF488003; ABO77946.1; -; mRNA.
EMBL; EF488004; ABO77947.1; -; mRNA.
EMBL; AL592495; CAC95157.2; -; Genomic_DNA.
EMBL; BX664601; CAK04103.1; -; Genomic_DNA.
EMBL; BX322568; CAK04103.1; JOINED; Genomic_DNA.
EMBL; BX322568; CAK11011.1; -; Genomic_DNA.
EMBL; BX664601; CAK11011.1; JOINED; Genomic_DNA.
EMBL; BC068324; AAH68324.1; -; mRNA.
RefSeq; NP_998402.1; NM_213237.1. [O93507-1]
UniGene; Dr.75812; -.
ProteinModelPortal; O93507; -.
SMR; O93507; -.
STRING; 7955.ENSDARP00000077498; -.
PaxDb; O93507; -.
DNASU; 30766; -.
Ensembl; ENSDART00000083063; ENSDARP00000077498; ENSDARG00000019930. [O93507-1]
GeneID; 30766; -.
KEGG; dre:30766; -.
CTD; 6886; -.
ZFIN; ZDB-GENE-980526-501; tal1.
eggNOG; KOG4029; Eukaryota.
eggNOG; ENOG411227D; LUCA.
GeneTree; ENSGT00760000119097; -.
HOGENOM; HOG000113414; -.
HOVERGEN; HBG005018; -.
InParanoid; O93507; -.
KO; K09068; -.
OMA; QELCPGS; -.
OrthoDB; EOG091G0ESI; -.
PhylomeDB; O93507; -.
TreeFam; TF315153; -.
Reactome; R-DRE-8939236; RUNX1 regulates transcription of genes involved in differentiation of HSCs.
PRO; PR:O93507; -.
Proteomes; UP000000437; Chromosome 22.
Bgee; ENSDARG00000019930; -.
GO; GO:0005634; C:nucleus; IBA:GO_Central.
GO; GO:0003677; F:DNA binding; IMP:UniProtKB.
GO; GO:0046983; F:protein dimerization activity; IEA:InterPro.
GO; GO:0000977; F:RNA polymerase II regulatory region sequence-specific DNA binding; IBA:GO_Central.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; IBA:GO_Central.
GO; GO:0043565; F:sequence-specific DNA binding; IDA:ZFIN.
GO; GO:0001525; P:angiogenesis; IMP:UniProtKB.
GO; GO:0048844; P:artery morphogenesis; IMP:UniProtKB.
GO; GO:0001568; P:blood vessel development; IMP:ZFIN.
GO; GO:0060216; P:definitive hemopoiesis; IMP:UniProtKB.
GO; GO:0035050; P:embryonic heart tube development; IMP:ZFIN.
GO; GO:0035162; P:embryonic hemopoiesis; IMP:ZFIN.
GO; GO:0060214; P:endocardium formation; IMP:UniProtKB.
GO; GO:0003160; P:endocardium morphogenesis; IMP:ZFIN.
GO; GO:0030218; P:erythrocyte differentiation; IGI:ZFIN.
GO; GO:0007507; P:heart development; IGI:ZFIN.
GO; GO:0003007; P:heart morphogenesis; IGI:ZFIN.
GO; GO:0060217; P:hemangioblast cell differentiation; IDA:ZFIN.
GO; GO:0060218; P:hematopoietic stem cell differentiation; IMP:UniProtKB.
GO; GO:0030097; P:hemopoiesis; IDA:ZFIN.
GO; GO:0048368; P:lateral mesoderm development; IMP:ZFIN.
GO; GO:0030099; P:myeloid cell differentiation; IEP:UniProtKB.
GO; GO:0048823; P:nucleate erythrocyte development; IMP:ZFIN.
GO; GO:0045603; P:positive regulation of endothelial cell differentiation; IMP:ZFIN.
GO; GO:0060215; P:primitive hemopoiesis; IDA:ZFIN.
GO; GO:0019827; P:stem cell population maintenance; IMP:ZFIN.
GO; GO:0030878; P:thyroid gland development; IMP:ZFIN.
GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
GO; GO:0001570; P:vasculogenesis; IDA:ZFIN.
CDD; cd00083; HLH; 1.
Gene3D; 4.10.280.10; -; 1.
InterPro; IPR011598; bHLH_dom.
InterPro; IPR036638; HLH_DNA-bd_sf.
Pfam; PF00010; HLH; 1.
SMART; SM00353; HLH; 1.
SUPFAM; SSF47459; SSF47459; 1.
PROSITE; PS50888; BHLH; 1.
1: Evidence at protein level;
Alternative splicing; Angiogenesis; Complete proteome;
Developmental protein; Differentiation; DNA-binding; Nucleus;
Reference proteome; Transcription; Transcription regulation.
CHAIN 1 324 T-cell acute lymphocytic leukemia protein
1 homolog.
/FTId=PRO_0000320003.
DOMAIN 185 237 bHLH. {ECO:0000255|PROSITE-
ProRule:PRU00981}.
VAR_SEQ 1 118 Missing (in isoform beta).
{ECO:0000303|PubMed:17472439}.
/FTId=VSP_052683.
MUTAGEN 193 195 RER->AAA: Abolishes DNA binding.
{ECO:0000269|PubMed:16210319}.
CONFLICT 16 16 A -> T (in Ref. 4; CAC95157).
{ECO:0000305}.
CONFLICT 20 20 A -> T (in Ref. 4; CAC95157).
{ECO:0000305}.
CONFLICT 79 79 A -> V (in Ref. 2; AAC41264).
{ECO:0000305}.
CONFLICT 116 117 DT -> EI (in Ref. 2; AAC41264).
{ECO:0000305}.
CONFLICT 123 123 S -> I (in Ref. 2; AAC41264).
{ECO:0000305}.
CONFLICT 127 127 F -> Y (in Ref. 2; AAC41264).
{ECO:0000305}.
CONFLICT 135 135 L -> F (in Ref. 2; AAC41264).
{ECO:0000305}.
CONFLICT 143 143 L -> F (in Ref. 2; AAC41264).
{ECO:0000305}.
CONFLICT 283 283 S -> T (in Ref. 2; AAC41264).
{ECO:0000305}.
SEQUENCE 324 AA; 35705 MW; 28B98591156C40F6 CRC64;
MMEKLKSEQF PLSPSAEGCA SPPRGDGDAR GKQEGTTAET GEHRLPEELN GVAKETAHHA
TELKKEVAVI ELSRRGGSAD IKGRELKAEL SHKVQTTELC RPPIPLPLPP RDPLSDTRMV
QLSPPAFPLP ARAMLYSNMT TPLATINSGF AGDAEQYGMY PSNRVKRRPA PYEVEINDGS
QPKIVRRIFT NSRERWRQQN VNGAFAELRK LIPTHPPDKK LSKNEILRLA MKYINFLAKL
LNDQDDMVGG EAPARANRDS RDATLVRDDL LQEMLSPNSS CGSLLDGDAS PESFTEDQDS
SVESRPSARG LHHSSLPLDG NAQR


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