TLX1_HUMAN
ID TLX1_HUMAN Reviewed; 330 AA.
AC P31314; A1L4G3; O75699; Q5VXP2; Q9HCA0; Q9UD59;
DT 01-JUL-1993, integrated into UniProtKB/Swiss-Prot.
DT 01-JUL-1993, sequence version 1.
DT 03-AUG-2022, entry version 190.
DE RecName: Full=T-cell leukemia homeobox protein 1;
DE AltName: Full=Homeobox protein Hox-11;
DE AltName: Full=Proto-oncogene TCL-3;
DE AltName: Full=T-cell leukemia/lymphoma protein 3;
GN Name=TLX1; Synonyms=HOX11, TCL3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND CHROMOSOMAL TRANSLOCATION WITH
RP TCRD.
RC TISSUE=T-cell;
RX PubMed=1717256; DOI=10.1002/j.1460-2075.1991.tb07840.x;
RA Lu M., Gong Z., Shen W., Ho A.D.;
RT "The tcl-3 proto-oncogene altered by chromosomal translocation in T-cell
RT leukemia codes for a homeobox protein.";
RL EMBO J. 10:2905-2910(1991).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND CHROMOSOMAL TRANSLOCATION WITH
RP TCRD.
RC TISSUE=T-cell;
RX PubMed=1681546; DOI=10.1073/pnas.88.20.8900;
RA Kennedy M.A., Gonzalez-Sarmiento R., Kees U.R., Lampert F., Dear T.N.,
RA Boehm T., Rabbitts T.H.;
RT "HOX11, a homeobox-containing T-cell oncogene on human chromosome 10q24.";
RL Proc. Natl. Acad. Sci. U.S.A. 88:8900-8904(1991).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND CHROMOSOMAL TRANSLOCATION WITH
RP TCRD.
RX PubMed=1676542; DOI=10.1126/science.1676542;
RA Hatano M., Roberts C.W., Minden M., Crist W.M., Korsmeyer S.J.;
RT "Deregulation of a homeobox gene, HOX11, by the t(10;14) in T cell
RT leukemia.";
RL Science 253:79-82(1991).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=1352396;
RA Lu M., Zhang N., Ho A.D.;
RT "Genomic organization of the putative human homeobox proto-oncogene HOX-11
RT (TCL-3) and its endogenous expression in T cells.";
RL Oncogene 7:1325-1330(1992).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=10393251; DOI=10.1016/s0378-1119(99)00157-2;
RA Watt P.M., Ranford P.R., Kees U.R.;
RT "Sequence of 10q24 locus surrounding the HOX11 oncogene reveals a new gene
RT HUG1 expressed in a T-ALL cell line.";
RL Gene 234:169-176(1999).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [9]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-64.
RX PubMed=9778044; DOI=10.1038/sj.onc.1202078;
RA Brake R.L., Kees U.R., Watt P.M.;
RT "Multiple negative elements contribute to repression of the HOX11 proto-
RT oncogene.";
RL Oncogene 17:1787-1795(1998).
RN [10]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 209-247 (ISOFORM 1/2).
RC TISSUE=Bone marrow;
RX PubMed=7518789; DOI=10.1016/0378-1119(94)90380-8;
RA Moretti P., Simmons P., Thomas P., Haylock D., Rathjen P., Vadas M.,
RA D'Andrea R.;
RT "Identification of homeobox genes expressed in human haemopoietic
RT progenitor cells.";
RL Gene 144:213-219(1994).
RN [11]
RP IDENTIFICATION.
RX PubMed=17303350; DOI=10.1016/j.gene.2006.12.034;
RA Greene W.K., Sontani Y., Sharp M.A., Dunn D.S., Kees U.R., Bellgard M.I.;
RT "A promoter with bidirectional activity is located between TLX1/HOX11 and a
RT divergently transcribed novel human gene.";
RL Gene 391:223-232(2007).
RN [12]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-236, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C.,
RA Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [13]
RP INTERACTION WITH MEIS1; MEIS2; PBX1; PBX2 AND PBX3.
RX PubMed=19559479; DOI=10.1016/j.leukres.2009.06.003;
RA Milech N., Gottardo N.G., Ford J., D'Souza D., Greene W.K., Kees U.R.,
RA Watt P.M.;
RT "MEIS proteins as partners of the TLX1/HOX11 oncoprotein.";
RL Leuk. Res. 34:358-363(2010).
CC -!- FUNCTION: Controls the genesis of the spleen. Binds to the DNA sequence
CC 5'-GGCGGTAAGTGG-3'.
CC -!- SUBUNIT: Interacts with MEIS1, MEIS2, PBX1, PBX2 and PBX3.
CC {ECO:0000269|PubMed:19559479}.
CC -!- INTERACTION:
CC P31314; O00470: MEIS1; NbExp=4; IntAct=EBI-2820655, EBI-1210694;
CC P31314; O14770-2: MEIS2; NbExp=4; IntAct=EBI-2820655, EBI-6390216;
CC P31314; P40424-2: PBX1; NbExp=2; IntAct=EBI-2820655, EBI-6390251;
CC P31314; P40425: PBX2; NbExp=3; IntAct=EBI-2820655, EBI-348489;
CC P31314; P27577: Ets1; Xeno; NbExp=2; IntAct=EBI-2820655, EBI-4289053;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P31314-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P31314-2; Sequence=VSP_043068;
CC -!- DISEASE: Note=A chromosomal aberration involving TLX1 may be a cause of
CC a form of T-cell acute lymphoblastic leukemia (T-ALL). Translocation
CC t(10;14)(q24;q11) with TCRD. {ECO:0000269|PubMed:1676542,
CC ECO:0000269|PubMed:1681546, ECO:0000269|PubMed:1717256}.
CC -!- MISCELLANEOUS: TLX1 is oriented in a head-to-head manner with TDI. Both
CC genes share the same promoter with robust bidirectional activity.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; M62626; AAA36719.1; -; mRNA.
DR EMBL; M75952; AAA58662.1; -; mRNA.
DR EMBL; S38742; AAB19293.1; -; mRNA.
DR EMBL; AJ009794; CAA08834.1; -; Genomic_DNA.
DR EMBL; AL357395; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471066; EAW49778.1; -; Genomic_DNA.
DR EMBL; BC130530; AAI30531.1; -; mRNA.
DR EMBL; AF067443; AAG10096.1; -; Genomic_DNA.
DR CCDS; CCDS55725.1; -. [P31314-2]
DR CCDS; CCDS7510.1; -. [P31314-1]
DR PIR; A40855; A40855.
DR RefSeq; NP_001182446.1; NM_001195517.1. [P31314-2]
DR RefSeq; NP_005512.1; NM_005521.3. [P31314-1]
DR AlphaFoldDB; P31314; -.
DR SMR; P31314; -.
DR BioGRID; 109435; 163.
DR DIP; DIP-155N; -.
DR ELM; P31314; -.
DR IntAct; P31314; 168.
DR STRING; 9606.ENSP00000359215; -.
DR iPTMnet; P31314; -.
DR PhosphoSitePlus; P31314; -.
DR BioMuta; TLX1; -.
DR DMDM; 399982; -.
DR MassIVE; P31314; -.
DR PaxDb; P31314; -.
DR PeptideAtlas; P31314; -.
DR PRIDE; P31314; -.
DR ProteomicsDB; 54778; -. [P31314-1]
DR ProteomicsDB; 54779; -. [P31314-2]
DR Antibodypedia; 31271; 133 antibodies from 24 providers.
DR DNASU; 3195; -.
DR Ensembl; ENST00000370196.11; ENSP00000359215.6; ENSG00000107807.13. [P31314-1]
DR Ensembl; ENST00000467928.2; ENSP00000434914.2; ENSG00000107807.13. [P31314-2]
DR GeneID; 3195; -.
DR KEGG; hsa:3195; -.
DR MANE-Select; ENST00000370196.11; ENSP00000359215.6; NM_005521.4; NP_005512.1.
DR UCSC; uc001ksw.4; human. [P31314-1]
DR CTD; 3195; -.
DR DisGeNET; 3195; -.
DR GeneCards; TLX1; -.
DR HGNC; HGNC:5056; TLX1.
DR HPA; ENSG00000107807; Group enriched (lymphoid tissue, salivary gland).
DR MalaCards; TLX1; -.
DR MIM; 186770; gene+phenotype.
DR neXtProt; NX_P31314; -.
DR OpenTargets; ENSG00000107807; -.
DR Orphanet; 99861; Precursor T-cell acute lymphoblastic leukemia.
DR PharmGKB; PA35095; -.
DR VEuPathDB; HostDB:ENSG00000107807; -.
DR eggNOG; KOG0488; Eukaryota.
DR GeneTree; ENSGT00940000158698; -.
DR HOGENOM; CLU_053409_2_0_1; -.
DR InParanoid; P31314; -.
DR OMA; DYGHPAY; -.
DR OrthoDB; 1391465at2759; -.
DR PhylomeDB; P31314; -.
DR TreeFam; TF325347; -.
DR PathwayCommons; P31314; -.
DR SignaLink; P31314; -.
DR SIGNOR; P31314; -.
DR BioGRID-ORCS; 3195; 7 hits in 1089 CRISPR screens.
DR ChiTaRS; TLX1; human.
DR GeneWiki; TLX1; -.
DR GenomeRNAi; 3195; -.
DR Pharos; P31314; Tbio.
DR PRO; PR:P31314; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; P31314; protein.
DR Bgee; ENSG00000107807; Expressed in spleen and 56 other tissues.
DR ExpressionAtlas; P31314; baseline and differential.
DR Genevisible; P31314; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0048513; P:animal organ development; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR InterPro; IPR042247; TLX1/2/3.
DR PANTHER; PTHR45921; PTHR45921; 1.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Chromosomal rearrangement;
KW Developmental protein; DNA-binding; Homeobox; Nucleus; Proto-oncogene;
KW Reference proteome.
FT CHAIN 1..330
FT /note="T-cell leukemia homeobox protein 1"
FT /id="PRO_0000049333"
FT DNA_BIND 201..260
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 186..207
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 236
FT /note="N6-acetyllysine"
FT /evidence="ECO:0007744|PubMed:19608861"
FT VAR_SEQ 258..330
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_043068"
FT CONFLICT 71
FT /note="A -> T (in Ref. 5; CAA08834)"
FT /evidence="ECO:0000305"
FT CONFLICT 276
FT /note="L -> R (in Ref. 3; AAB19293)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 330 AA; 34365 MW; 09A518FB5271F7ED CRC64;
MEHLGPHHLH PGHAEPISFG IDQILNSPDQ GGCMGPASRL QDGEYGLGCL VGGAYTYGGG
GSAAATGAGG AGAYGTGGPG GPGGPAGGGG ACSMGPLTGS YNVNMALAGG PGPGGGGGSS
GGAGALSAAG VIRVPAHRPL AGAVAHPQPL ATGLPTVPSV PAMPGVNNLT GLTFPWMESN
RRYTKDRFTG HPYQNRTPPK KKKPRTSFTR LQICELEKRF HRQKYLASAE RAALAKALKM
TDAQVKTWFQ NRRTKWRRQT AEEREAERQQ ANRILLQLQQ EAFQKSLAQP LPADPLCVHN
SSLFALQNLQ PWSDDSTKIT SVTSVASACE
