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FLASH GENE
Symbol LMX1B contributors: mct/npt - updated : 30-05-2016
HGNC name LIM homeobox transcription factor 1, beta
HGNC id 6654
Corresponding disease
NPS1 nail patella syndrome
Location 9q33.3      Physical location : 129.376.721 - 129.463.311
Synonym name
  • LIM/homeobox protein 1.2
  • nail patella syndrome 1
    • Synonym symbol(s) LMX1-2, NPS1, MGC142051, MGC138325
    DNA
    TYPE functioning gene
    STRUCTURE 82.00 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    motif
    text structure for COL4A4 (intron 1)
    MAPPING cloned Y linked N status confirmed
    Map cen - D9S289 - D9S1824 - D9S1776 - D9S170 - D9S1802 - D9S1811 - D9S1872 - D9S1823 - D9S1881 - D9S1825 - LMX1B - D9S290 - D9S159 - D9S1831 - D9S1863 - D9S179 - qter
    Authors Iannotti (97)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 splicing 5750 41.5 372 - Dunston, Vollrath (1998)
    splicing of the last 21 nt of exon 7
    - splicing - - 379 - Dunston
    splicing of th least 21 nt of the exon 7
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreasislet of Langerhans   
    Reproductivefemale systembreastmammary gland  
    Urinarykidney    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Urinarypodocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal, pregnancy
    Text highly, in renal development and skeletal patterning, kidney, dorsal mesenchymal tissues precursors of muscles, tendons, joints, patella and in anterior structure of the limb
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two N terminal zinc binding cysteine-rich (LIM) domains
  • an helix-turn-helix homeobox DNA binding domain
  • C terminal glutamine-rich region
    • HOMOLOGY
    intraspecies homolog to LMX1A gene
    Homologene
    FAMILY
  • LIM domain homeobox family (non HOX)
    • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in dorsal-ventral limb patterning and kidney development and patterning modulator of motor axon guidance
  • essential for the specification of dorsal limb fates at the zeugopodal and autopodal level in vertebrates
  • regulation of the coordinated expression of COL4A3 and COL4A4 required for normal glomerular basal membrane morphogenesis
  • required for the differentiation and migration of neurons within the dorsal spinal cord
  • overlapping function of the LMX1A, LMX1B genes during embryonic CNS development
  • LMX1A and LMX1B cooperate with FOXA2 to coordinate the specification of dopaminergic neurons and control of floor plate cell differentiation in the developing mesencephalon
  • LMX1A and LMX1B function cooperatively to regulate proliferation, specification, and differentiation of mDA (midbrain dopaminergic neurons) progenitors, including their floor plate-like properties
  • is essential for the development of the isthmic organizer and mesodiencephalic dopaminergic neurons
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • a complex transcriptional machinery which may include LDB1
  • intermediate factor in NKX2-2 mediated early specification of serotonic (5-HT) neurons
  • bound to 2 AT-rich sequences in the promoter region of NPHS2
  • interacting with PAX2(gene modifier in NPS1)
  • OTX2 Requires LMX1B to control the development of mesodiencephalic dopaminergic neurons
  • LDB1 and LMX1B function cooperatively to regulate mid- and hindbrain development
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NPS1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • dorsoventral limb patterning
  • Lmx1a/Lmx1b compound-null mutants fail to generate hindbrain roof plate
  • adult mice with an Lmx1b loss restricted to Hoxb8 neurons have nociception defects and disrupted organization of primary sensory afferent axons innervating the dorsal horn