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P48742

- LHX1_HUMAN

UniProt

P48742 - LHX1_HUMAN

Protein

LIM/homeobox protein Lhx1

Gene

LHX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 2 (01 Mar 2005)
      Previous versions | rss
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    Functioni

    Potential transcription factor. May play a role in early mesoderm formation and later in lateral mesoderm differentiation and neurogenesis.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi180 – 23960HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding Source: InterPro
    2. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    3. transcription corepressor activity Source: UniProtKB
    4. zinc ion binding Source: InterPro

    GO - Biological processi

    1. anatomical structure formation involved in morphogenesis Source: UniProtKB
    2. anatomical structure morphogenesis Source: UniProtKB
    3. anterior/posterior axis specification Source: UniProtKB
    4. anterior/posterior pattern specification Source: UniProtKB
    5. branching involved in ureteric bud morphogenesis Source: Ensembl
    6. cell-cell signaling Source: UniProtKB
    7. cellular response to fibroblast growth factor stimulus Source: Ensembl
    8. cerebellar Purkinje cell differentiation Source: UniProtKB
    9. cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation Source: UniProtKB
    10. cerebellum development Source: UniProtKB
    11. cervix development Source: UniProtKB
    12. comma-shaped body morphogenesis Source: UniProtKB
    13. dorsal/ventral pattern formation Source: UniProtKB
    14. ectoderm formation Source: UniProtKB
    15. embryonic pattern specification Source: UniProtKB
    16. embryonic retina morphogenesis in camera-type eye Source: UniProtKB
    17. embryonic viscerocranium morphogenesis Source: UniProtKB
    18. endoderm formation Source: UniProtKB
    19. epithelium development Source: UniProtKB
    20. forebrain regionalization Source: UniProtKB
    21. gastrulation with mouth forming second Source: UniProtKB
    22. head development Source: UniProtKB
    23. horizontal cell localization Source: Ensembl
    24. kidney development Source: UniProtKB
    25. lateral motor column neuron migration Source: UniProtKB
    26. mesonephric duct development Source: Ensembl
    27. metanephric comma-shaped body morphogenesis Source: Ensembl
    28. metanephric glomerulus development Source: Ensembl
    29. metanephric part of ureteric bud development Source: Ensembl
    30. metanephric renal vesicle morphogenesis Source: Ensembl
    31. metanephric S-shaped body morphogenesis Source: Ensembl
    32. motor neuron axon guidance Source: UniProtKB
    33. negative regulation of transcription, DNA-templated Source: UniProtKB
    34. nephric duct elongation Source: Ensembl
    35. nephric duct morphogenesis Source: UniProtKB
    36. nervous system development Source: ProtInc
    37. organ morphogenesis Source: ProtInc
    38. oviduct development Source: UniProtKB
    39. oviduct epithelium development Source: UniProtKB
    40. paramesonephric duct development Source: UniProtKB
    41. pattern specification process Source: UniProtKB
    42. positive regulation of anterior head development Source: UniProtKB
    43. positive regulation of branching involved in ureteric bud morphogenesis Source: UniProtKB
    44. positive regulation of embryonic development Source: UniProtKB
    45. positive regulation of gastrulation Source: UniProtKB
    46. positive regulation of nephron tubule epithelial cell differentiation Source: UniProtKB
    47. positive regulation of transcription, DNA-templated Source: UniProtKB
    48. post-embryonic development Source: UniProtKB
    49. primitive streak formation Source: UniProtKB
    50. pronephros development Source: Ensembl
    51. regulation of gene expression Source: UniProtKB
    52. renal vesicle morphogenesis Source: UniProtKB
    53. retina layer formation Source: UniProtKB
    54. somite rostral/caudal axis specification Source: Ensembl
    55. spinal cord association neuron differentiation Source: UniProtKB
    56. S-shaped body morphogenesis Source: UniProtKB
    57. telencephalon development Source: Ensembl
    58. transcription from RNA polymerase II promoter Source: UniProtKB
    59. ureteric bud development Source: UniProtKB
    60. urogenital system development Source: UniProtKB
    61. uterine epithelium development Source: UniProtKB
    62. uterus development Source: UniProtKB
    63. vagina development Source: UniProtKB
    64. ventral spinal cord development Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Neurogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    LIM/homeobox protein Lhx1
    Short name:
    LIM homeobox protein 1
    Alternative name(s):
    Homeobox protein Lim-1
    Short name:
    hLim-1
    Gene namesi
    Name:LHX1
    Synonyms:LIM-1, LIM1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:6593. LHX1.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB
    2. protein complex Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti261265. 17q12 microdeletion syndrome.
    247775. Classic Mayer-Rokitansky-Kuster-Hauser syndrome.
    2578. MURCS association.
    PharmGKBiPA30364.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 406406LIM/homeobox protein Lhx1PRO_0000075769Add
    BLAST

    Proteomic databases

    PaxDbiP48742.
    PRIDEiP48742.

    PTM databases

    PhosphoSiteiP48742.

    Expressioni

    Tissue specificityi

    Expressed in the brain, thymus, and tonsils. Expressed in samples from patients with chronic myeloid leukemia (CML) and in 58% of acute myeloid leukemia (AML) cell lines.1 Publication

    Gene expression databases

    ArrayExpressiP48742.
    BgeeiP48742.
    CleanExiHS_LHX1.
    GenevestigatoriP48742.

    Organism-specific databases

    HPAiCAB002770.

    Interactioni

    Subunit structurei

    Interacts with LDB1 via the tandem LIM domains.By similarity

    Protein-protein interaction databases

    BioGridi110163. 3 interactions.
    STRINGi9606.ENSP00000254457.

    Structurei

    3D structure databases

    ProteinModelPortaliP48742.
    SMRiP48742. Positions 4-118, 186-236.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini4 – 5451LIM zinc-binding 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini63 – 11755LIM zinc-binding 2PROSITE-ProRule annotationAdd
    BLAST

    Domaini

    The LIM domains exert a negative regulatory function and disruption of the LIM domains produces an activated form. In addition, two activation domains and a negative regulatory domain exist C-terminally to the homeobox By similarity.By similarity

    Sequence similaritiesi

    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation
    Contains 2 LIM zinc-binding domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox, LIM domain, Repeat

    Phylogenomic databases

    eggNOGiNOG257130.
    HOGENOMiHOG000231630.
    HOVERGENiHBG006263.
    InParanoidiP48742.
    KOiK09372.
    OMAiDIMSHHP.
    OrthoDBiEOG7PP56T.
    PhylomeDBiP48742.
    TreeFamiTF315442.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    2.10.110.10. 2 hits.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR001781. Znf_LIM.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    PF00412. LIM. 2 hits.
    [Graphical view]
    SMARTiSM00389. HOX. 1 hit.
    SM00132. LIM. 2 hits.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    PS00478. LIM_DOMAIN_1. 2 hits.
    PS50023. LIM_DOMAIN_2. 2 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P48742-1 [UniParc]FASTAAdd to Basket

    « Hide

    MVHCAGCKRP ILDRFLLNVL DRAWHVKCVQ CCECKCNLTE KCFSREGKLY    50
    CKNDFFRCFG TKCAGCAQGI SPSDLVRRAR SKVFHLNCFT CMMCNKQLST 100
    GEELYIIDEN KFVCKEDYLS NSSVAKENSL HSATTGSDPS LSPDSQDPSQ 150
    DDAKDSESAN VSDKEAGSNE NDDQNLGAKR RGPRTTIKAK QLETLKAAFA 200
    ATPKPTRHIR EQLAQETGLN MRVIQVWFQN RRSKERRMKQ LSALGARRHA 250
    FFRSPRRMRP LVDRLEPGEL IPNGPFSFYG DYQSEYYGPG GNYDFFPQGP 300
    PSSQAQTPVD LPFVPSSGPS GTPLGGLEHP LPGHHPSSEA QRFTDILAHP 350
    PGDSPSPEPS LPGPLHSMSA EVFGPSPPFS SLSVNGGASY GNHLSHPPEM 400
    NEAAVW 406
    Length:406
    Mass (Da):44,808
    Last modified:March 1, 2005 - v2
    Checksum:i06C5A417A943C15D
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti67 – 671A → R in AAA21644. (PubMed:9212161)Curated
    Sequence conflicti184 – 1841R → G in AAA21644. (PubMed:9212161)Curated
    Sequence conflicti245 – 2484GARR → AG in AAA21644. (PubMed:9212161)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U14755 mRNA. Translation: AAA21644.1.
    AC023315 Genomic DNA. No translation available.
    AC025882 Genomic DNA. No translation available.
    BC111936 mRNA. Translation: AAI11937.1.
    BC101674 mRNA. Translation: AAI01675.1.
    CCDSiCCDS11316.1.
    PIRiG01507.
    RefSeqiNP_005559.2. NM_005568.4.
    UniGeneiHs.443727.

    Genome annotation databases

    GeneIDi3975.
    KEGGihsa:3975.
    UCSCiuc002hnh.2. human.

    Polymorphism databases

    DMDMi60416412.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U14755 mRNA. Translation: AAA21644.1 .
    AC023315 Genomic DNA. No translation available.
    AC025882 Genomic DNA. No translation available.
    BC111936 mRNA. Translation: AAI11937.1 .
    BC101674 mRNA. Translation: AAI01675.1 .
    CCDSi CCDS11316.1.
    PIRi G01507.
    RefSeqi NP_005559.2. NM_005568.4.
    UniGenei Hs.443727.

    3D structure databases

    ProteinModelPortali P48742.
    SMRi P48742. Positions 4-118, 186-236.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110163. 3 interactions.
    STRINGi 9606.ENSP00000254457.

    PTM databases

    PhosphoSitei P48742.

    Polymorphism databases

    DMDMi 60416412.

    Proteomic databases

    PaxDbi P48742.
    PRIDEi P48742.

    Protocols and materials databases

    DNASUi 3975.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 3975.
    KEGGi hsa:3975.
    UCSCi uc002hnh.2. human.

    Organism-specific databases

    CTDi 3975.
    GeneCardsi GC17P035294.
    HGNCi HGNC:6593. LHX1.
    HPAi CAB002770.
    MIMi 601999. gene.
    neXtProti NX_P48742.
    Orphaneti 261265. 17q12 microdeletion syndrome.
    247775. Classic Mayer-Rokitansky-Kuster-Hauser syndrome.
    2578. MURCS association.
    PharmGKBi PA30364.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG257130.
    HOGENOMi HOG000231630.
    HOVERGENi HBG006263.
    InParanoidi P48742.
    KOi K09372.
    OMAi DIMSHHP.
    OrthoDBi EOG7PP56T.
    PhylomeDBi P48742.
    TreeFami TF315442.

    Miscellaneous databases

    GeneWikii LHX1.
    GenomeRNAii 3975.
    NextBioi 15580.
    PROi P48742.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P48742.
    Bgeei P48742.
    CleanExi HS_LHX1.
    Genevestigatori P48742.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    2.10.110.10. 2 hits.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR001781. Znf_LIM.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    PF00412. LIM. 2 hits.
    [Graphical view ]
    SMARTi SM00389. HOX. 1 hit.
    SM00132. LIM. 2 hits.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    PS00478. LIM_DOMAIN_1. 2 hits.
    PS50023. LIM_DOMAIN_2. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning, expression, and chromosomal localization to 11p12-13 of a human LIM/homeobox gene, hLim-1."
      Dong W.F., Heng H.H.Q., Lowsky R., Xu Y., Decoteau J.F., Shi X.-M., Tsui L.-C., Minden M.D.
      DNA Cell Biol. 16:671-678(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY.
      Tissue: Fetal brain.
    2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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: Cerebellum.

    Entry informationi

    Entry nameiLHX1_HUMAN
    AccessioniPrimary (citable) accession number: P48742
    Secondary accession number(s): Q3MIW0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1996
    Last sequence update: March 1, 2005
    Last modified: October 1, 2014
    This is version 130 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 17
      Human chromosome 17: 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