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P52954

- LBX1_HUMAN

UniProt

P52954 - LBX1_HUMAN

Protein

Transcription factor LBX1

Gene

LBX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 2 (14 Nov 2006)
      Previous versions | rss
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    Functioni

    Transcription factor required for the development of GABAergic interneurons in the dorsal horn of the spinal cord and migration and further development of hypaxial muscle precursor cells for limb muscles, diaphragm and hypoglossal cord.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi125 – 18460HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding transcription factor activity Source: Ensembl
    2. transcription regulatory region sequence-specific DNA binding Source: InterPro

    GO - Biological processi

    1. anatomical structure morphogenesis Source: ProtInc
    2. heart looping Source: Ensembl
    3. muscle organ development Source: UniProtKB-KW
    4. negative regulation of cell proliferation Source: Ensembl
    5. negative regulation of neuron differentiation Source: Ensembl
    6. neuron fate determination Source: Ensembl
    7. regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification Source: Ensembl
    8. spinal cord motor neuron differentiation Source: Ensembl
    9. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Myogenesis, Neurogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transcription factor LBX1
    Alternative name(s):
    Ladybird homeobox protein homolog 1
    Gene namesi
    Name:LBX1
    Synonyms:LBX1H
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:16960. LBX1.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell
    2. transcription factor complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142671561.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 281281Transcription factor LBX1PRO_0000049166Add
    BLAST

    Proteomic databases

    PaxDbiP52954.
    PRIDEiP52954.

    Expressioni

    Gene expression databases

    ArrayExpressiP52954.
    BgeeiP52954.
    CleanExiHS_LBX1.
    GenevestigatoriP52954.

    Organism-specific databases

    HPAiHPA002086.

    Interactioni

    Subunit structurei

    Interacts with SKOR1 which acts as a transcriptional corepressor.By similarity

    Protein-protein interaction databases

    BioGridi115903. 1 interaction.
    STRINGi9606.ENSP00000359212.

    Structurei

    3D structure databases

    ProteinModelPortaliP52954.
    SMRiP52954. Positions 124-182.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi220 – 2267Poly-Gly
    Compositional biasi270 – 28112Asp/Glu-rich (highly acidic)Add
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG240187.
    HOGENOMiHOG000007247.
    HOVERGENiHBG006244.
    InParanoidiP52954.
    KOiK09353.
    OMAiNSEATAG.
    OrthoDBiEOG7X3QRB.
    PhylomeDBiP52954.
    TreeFamiTF325047.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00031. HTHREPRESSR.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P52954-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTSKEDGKAA PGEERRRSPL DHLPPPANSN KPLTPFSIED ILNKPSVRRS    50
    YSLCGAAHLL AAADKHAQGG LPLAGRALLS QTSPLCALEE LASKTFKGLE 100
    VSVLQAAEGR DGMTIFGQRQ TPKKRRKSRT AFTNHQIYEL EKRFLYQKYL 150
    SPADRDQIAQ QLGLTNAQVI TWFQNRRAKL KRDLEEMKAD VESAKKLGPS 200
    GQMDIVALAE LEQNSEATAG GGGGCGRAKS RPGSPVLPPG APKAPGAGAL 250
    QLSPASPLTD QPASSQDCSE DEEDEEIDVD D 281
    Length:281
    Mass (Da):30,221
    Last modified:November 14, 2006 - v2
    Checksum:i8467F2B515681CCA
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti33 – 7240LTPFS…QGGLP → YAVQHRGHPQQAVRAEKLLA AWGGAPAGRRGQARAGRLA in CAA62342. (PubMed:8645601)CuratedAdd
    BLAST
    Sequence conflicti81 – 811Q → K in CAA62342. (PubMed:8645601)Curated
    Sequence conflicti183 – 1831D → E in CAA62342. (PubMed:8645601)Curated
    Sequence conflicti194 – 1941A → P in CAA62342. (PubMed:8645601)Curated
    Sequence conflicti247 – 2482AG → RC in CAA62342. (PubMed:8645601)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X90828 mRNA. Translation: CAA62342.1.
    AL135794 Genomic DNA. Translation: CAH72508.2.
    CH471066 Genomic DNA. Translation: EAW49777.1.
    BC069156 mRNA. Translation: AAH69156.1.
    BC136321 mRNA. Translation: AAI36322.1.
    CCDSiCCDS31270.1.
    RefSeqiNP_006553.2. NM_006562.4.
    XP_005269500.1. XM_005269443.2.
    UniGeneiHs.37128.

    Genome annotation databases

    EnsembliENST00000370193; ENSP00000359212; ENSG00000138136.
    GeneIDi10660.
    KEGGihsa:10660.
    UCSCiuc001ksx.3. human.

    Polymorphism databases

    DMDMi117949813.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X90828 mRNA. Translation: CAA62342.1 .
    AL135794 Genomic DNA. Translation: CAH72508.2 .
    CH471066 Genomic DNA. Translation: EAW49777.1 .
    BC069156 mRNA. Translation: AAH69156.1 .
    BC136321 mRNA. Translation: AAI36322.1 .
    CCDSi CCDS31270.1.
    RefSeqi NP_006553.2. NM_006562.4.
    XP_005269500.1. XM_005269443.2.
    UniGenei Hs.37128.

    3D structure databases

    ProteinModelPortali P52954.
    SMRi P52954. Positions 124-182.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115903. 1 interaction.
    STRINGi 9606.ENSP00000359212.

    Polymorphism databases

    DMDMi 117949813.

    Proteomic databases

    PaxDbi P52954.
    PRIDEi P52954.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000370193 ; ENSP00000359212 ; ENSG00000138136 .
    GeneIDi 10660.
    KEGGi hsa:10660.
    UCSCi uc001ksx.3. human.

    Organism-specific databases

    CTDi 10660.
    GeneCardsi GC10M102976.
    HGNCi HGNC:16960. LBX1.
    HPAi HPA002086.
    MIMi 604255. gene.
    neXtProti NX_P52954.
    PharmGKBi PA142671561.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG240187.
    HOGENOMi HOG000007247.
    HOVERGENi HBG006244.
    InParanoidi P52954.
    KOi K09353.
    OMAi NSEATAG.
    OrthoDBi EOG7X3QRB.
    PhylomeDBi P52954.
    TreeFami TF325047.

    Miscellaneous databases

    GeneWikii LBX1.
    GenomeRNAii 10660.
    NextBioi 40539.
    PROi P52954.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P52954.
    Bgeei P52954.
    CleanExi HS_LBX1.
    Genevestigatori P52954.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00031. HTHREPRESSR.
    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. "Mouse Lbx1 and human LBX1 define a novel mammalian homeobox gene family related to the Drosophila lady bird genes."
      Jagla K., Dolle P., Mattei M.-G., Jagla T., Schuhbaur B., Dretzen G., Bellard F., Bellard M.
      Mech. Dev. 53:345-356(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "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].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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].
      Tissue: Testis.

    Entry informationi

    Entry nameiLBX1_HUMAN
    AccessioniPrimary (citable) accession number: P52954
    Secondary accession number(s): B9EGA2, Q05BB2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: November 14, 2006
    Last modified: October 1, 2014
    This is version 112 of the entry and version 2 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

    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