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P31314

- TLX1_HUMAN

UniProt

P31314 - TLX1_HUMAN

Protein

T-cell leukemia homeobox protein 1

Gene

TLX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 1 (01 Jul 1993)
      Previous versions | rss
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    Functioni

    Controls the genesis of the spleen. Binds to the DNA sequence 5'-GGCGGTAAGTGG-3'.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi201 – 26060HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. sequence-specific DNA binding Source: InterPro
    3. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. cell fate commitment Source: Ensembl
    2. central nervous system development Source: Ensembl
    3. neuron differentiation Source: Ensembl
    4. organ formation Source: Ensembl
    5. positive regulation of cell proliferation Source: Ensembl
    6. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    7. spleen development Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiP31314.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    T-cell leukemia homeobox protein 1
    Alternative name(s):
    Homeobox protein Hox-11
    Proto-oncogene TCL-3
    T-cell leukemia/lymphoma protein 3
    Gene namesi
    Name:TLX1
    Synonyms:HOX11, TCL3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:5056. TLX1.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving TLX1 may be a cause of a form of T-cell acute lymphoblastic leukemia (T-ALL). Translocation t(10;14)(q24;q11) with TCRD.

    Keywords - Diseasei

    Proto-oncogene

    Organism-specific databases

    MIMi186770. gene+phenotype.
    Orphaneti99861. Precursor T-cell acute lymphoblastic leukemia.
    PharmGKBiPA35095.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 330330T-cell leukemia homeobox protein 1PRO_0000049333Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei236 – 2361N6-acetyllysine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    PaxDbiP31314.
    PRIDEiP31314.

    PTM databases

    PhosphoSiteiP31314.

    Expressioni

    Gene expression databases

    BgeeiP31314.
    CleanExiHS_TLX1.
    GenevestigatoriP31314.

    Interactioni

    Subunit structurei

    Interacts with MEIS1, MEIS2, PBX1, PBX2 and PBX3.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Ets1P275772EBI-2820655,EBI-4289053From a different organism.
    MEIS1O004704EBI-2820655,EBI-1210694
    MEIS2O14770-24EBI-2820655,EBI-6390216
    PBX1P40424-22EBI-2820655,EBI-6390251

    Protein-protein interaction databases

    BioGridi109435. 4 interactions.
    DIPiDIP-155N.
    IntActiP31314. 9 interactions.
    STRINGi9606.ENSP00000359215.

    Structurei

    3D structure databases

    ProteinModelPortaliP31314.
    SMRiP31314. Positions 187-263.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG314631.
    HOGENOMiHOG000116280.
    HOVERGENiHBG036206.
    InParanoidiP31314.
    KOiK09340.
    OMAiGEYGLGC.
    OrthoDBiEOG7Q5HFW.
    PhylomeDBiP31314.
    TreeFamiTF325347.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00024. HOMEOBOX.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P31314-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MEHLGPHHLH PGHAEPISFG IDQILNSPDQ GGCMGPASRL QDGEYGLGCL    50
    VGGAYTYGGG GSAAATGAGG AGAYGTGGPG GPGGPAGGGG ACSMGPLTGS 100
    YNVNMALAGG PGPGGGGGSS GGAGALSAAG VIRVPAHRPL AGAVAHPQPL 150
    ATGLPTVPSV PAMPGVNNLT GLTFPWMESN RRYTKDRFTG HPYQNRTPPK 200
    KKKPRTSFTR LQICELEKRF HRQKYLASAE RAALAKALKM TDAQVKTWFQ 250
    NRRTKWRRQT AEEREAERQQ ANRILLQLQQ EAFQKSLAQP LPADPLCVHN 300
    SSLFALQNLQ PWSDDSTKIT SVTSVASACE 330
    Length:330
    Mass (Da):34,365
    Last modified:July 1, 1993 - v1
    Checksum:i09A518FB5271F7ED
    GO
    Isoform 2 (identifier: P31314-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         258-330: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:257
    Mass (Da):26,245
    Checksum:iA8072D76E4FC6CC7
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti71 – 711A → T in CAA08834. (PubMed:10393251)Curated
    Sequence conflicti276 – 2761L → R in AAB19293. (PubMed:1676542)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei258 – 33073Missing in isoform 2. 1 PublicationVSP_043068Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M62626 mRNA. Translation: AAA36719.1.
    M75952 mRNA. Translation: AAA58662.1.
    S38742 mRNA. Translation: AAB19293.1.
    AJ009794 Genomic DNA. Translation: CAA08834.1.
    AL357395 Genomic DNA. Translation: CAH72448.1.
    CH471066 Genomic DNA. Translation: EAW49778.1.
    BC130530 mRNA. Translation: AAI30531.1.
    AF067443 Genomic DNA. Translation: AAG10096.1.
    CCDSiCCDS55725.1. [P31314-2]
    CCDS7510.1. [P31314-1]
    PIRiA40855.
    RefSeqiNP_001182446.1. NM_001195517.1. [P31314-2]
    NP_005512.1. NM_005521.3. [P31314-1]
    UniGeneiHs.89583.

    Genome annotation databases

    EnsembliENST00000370196; ENSP00000359215; ENSG00000107807. [P31314-1]
    ENST00000467928; ENSP00000434914; ENSG00000107807. [P31314-2]
    GeneIDi3195.
    KEGGihsa:3195.
    UCSCiuc001ksw.3. human. [P31314-1]

    Polymorphism databases

    DMDMi399982.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M62626 mRNA. Translation: AAA36719.1 .
    M75952 mRNA. Translation: AAA58662.1 .
    S38742 mRNA. Translation: AAB19293.1 .
    AJ009794 Genomic DNA. Translation: CAA08834.1 .
    AL357395 Genomic DNA. Translation: CAH72448.1 .
    CH471066 Genomic DNA. Translation: EAW49778.1 .
    BC130530 mRNA. Translation: AAI30531.1 .
    AF067443 Genomic DNA. Translation: AAG10096.1 .
    CCDSi CCDS55725.1. [P31314-2 ]
    CCDS7510.1. [P31314-1 ]
    PIRi A40855.
    RefSeqi NP_001182446.1. NM_001195517.1. [P31314-2 ]
    NP_005512.1. NM_005521.3. [P31314-1 ]
    UniGenei Hs.89583.

    3D structure databases

    ProteinModelPortali P31314.
    SMRi P31314. Positions 187-263.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109435. 4 interactions.
    DIPi DIP-155N.
    IntActi P31314. 9 interactions.
    STRINGi 9606.ENSP00000359215.

    PTM databases

    PhosphoSitei P31314.

    Polymorphism databases

    DMDMi 399982.

    Proteomic databases

    PaxDbi P31314.
    PRIDEi P31314.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000370196 ; ENSP00000359215 ; ENSG00000107807 . [P31314-1 ]
    ENST00000467928 ; ENSP00000434914 ; ENSG00000107807 . [P31314-2 ]
    GeneIDi 3195.
    KEGGi hsa:3195.
    UCSCi uc001ksw.3. human. [P31314-1 ]

    Organism-specific databases

    CTDi 3195.
    GeneCardsi GC10P102889.
    HGNCi HGNC:5056. TLX1.
    MIMi 186770. gene+phenotype.
    neXtProti NX_P31314.
    Orphaneti 99861. Precursor T-cell acute lymphoblastic leukemia.
    PharmGKBi PA35095.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG314631.
    HOGENOMi HOG000116280.
    HOVERGENi HBG036206.
    InParanoidi P31314.
    KOi K09340.
    OMAi GEYGLGC.
    OrthoDBi EOG7Q5HFW.
    PhylomeDBi P31314.
    TreeFami TF325347.

    Enzyme and pathway databases

    SignaLinki P31314.

    Miscellaneous databases

    GeneWikii TLX1.
    GenomeRNAii 3195.
    NextBioi 12708.
    PROi P31314.
    SOURCEi Search...

    Gene expression databases

    Bgeei P31314.
    CleanExi HS_TLX1.
    Genevestigatori P31314.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00024. HOMEOBOX.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The tcl-3 proto-oncogene altered by chromosomal translocation in T-cell leukemia codes for a homeobox protein."
      Lu M., Gong Z., Shen W., Ho A.D.
      EMBO J. 10:2905-2910(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: T-cell.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: T-cell.
    3. "Deregulation of a homeobox gene, HOX11, by the t(10;14) in T cell leukemia."
      Hatano M., Roberts C.W., Minden M., Crist W.M., Korsmeyer S.J.
      Science 253:79-82(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    4. "Genomic organization of the putative human homeobox proto-oncogene HOX-11 (TCL-3) and its endogenous expression in T cells."
      Lu M., Zhang N., Ho A.D.
      Oncogene 7:1325-1330(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. "Sequence of 10q24 locus surrounding the HOX11 oncogene reveals a new gene HUG1 expressed in a T-ALL cell line."
      Watt P.M., Ranford P.R., Kees U.R.
      Gene 234:169-176(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    6. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    9. "Multiple negative elements contribute to repression of the HOX11 proto-oncogene."
      Brake R.L., Kees U.R., Watt P.M.
      Oncogene 17:1787-1795(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-64.
    10. "Identification of homeobox genes expressed in human haemopoietic progenitor cells."
      Moretti P., Simmons P., Thomas P., Haylock D., Rathjen P., Vadas M., D'Andrea R.
      Gene 144:213-219(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 209-247 (ISOFORM 1/2).
      Tissue: Bone marrow.
    11. "A promoter with bidirectional activity is located between TLX1/HOX11 and a divergently transcribed novel human gene."
      Greene W.K., Sontani Y., Sharp M.A., Dunn D.S., Kees U.R., Bellgard M.I.
      Gene 391:223-232(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION.
    12. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-236, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    13. Cited for: INTERACTION WITH MEIS1; MEIS2; PBX1; PBX2 AND PBX3.

    Entry informationi

    Entry nameiTLX1_HUMAN
    AccessioniPrimary (citable) accession number: P31314
    Secondary accession number(s): A1L4G3
    , O75699, Q5VXP2, Q9HCA0, Q9UD59
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1993
    Last sequence update: July 1, 1993
    Last modified: October 1, 2014
    This is version 133 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    TLX1 is oriented in a head-to-head manner with TDI. Both genes share the same promoter with robust bidirectional activity.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3