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FLASH GENE
Symbol LHX1 contributors: mct - updated : 25-11-2013
HGNC name LIM homeobox 1
HGNC id 6593
Corresponding disease
DEL17Q12 chromosome 17q12 microdeletion
Location 17q12      Physical location : 35.294.498 - 35.300.494
Synonym name
  • LIM homeobox protein 1
  • LIM/homeobox protein Lhx1
  • Synonym symbol(s) LIMK4, LIM-1, LIM1, MGC126723, MGC138141
    DNA
    TYPE functioning gene
    STRUCTURE 7.14 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Physical map
    CCL18 17q11.2 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) CCL3 17q11.2 chemokine (C-C motif) ligand 3 CCL4 17q11.2 chemokine (C-C motif) ligand 4 LOC388368 17 similar to TBC1 domain family member 3 (Rab GTPase-activating protein PRC17) (Prostate cancer gene 17 protein) (TRE17 alpha protein) LOC388369 17 LOC388369 LOC388370 17 similar to cytokine LOC388371 17 similar to TBC1 domain family member 3 (Rab GTPase-activating protein PRC17) (Prostate cancer gene 17 protein) (TRE17 alpha protein) LOC390788 17 similar to CCL3L1 protein CCL3L1 17q11.2 chemokine (C-C motif) ligand 3-like 1 LOC388372 17 similar to cytokine LOC388373 17 similar to TBC1 domain family member 3 (Rab GTPase-activating protein PRC17) (Prostate cancer gene 17 protein) (TRE17 alpha protein) LOC388374 17 similar to TBC1 domain family member 3 (Rab GTPase-activating protein PRC17) (Prostate cancer gene 17 protein) (TRE17 alpha protein) TRIP3 17q21.1 thyroid hormone receptor interactor 3 FLJ22865 17q21.1 hypothetical protein FLJ22865 PIGW 17q21.1 phosphatidylinositol glycan, class W LZK1 17q21.1 C3HC4-type zinc finger protein MGC4172 17q21.1 hypothetical protein MGC4172 FLJ22578 17q21.1 hypothetical protein FLJ22578 LOC388375 17 LOC388375 LOC388376 17 LOC388376 LHX1 11p13-p12 LIM homeobox protein 1 AATF 17q11.2-q12 apoptosis antagonizing transcription factor ACACA 17q21 acetyl-Coenzyme A carboxylase alpha FLJ39647 17q21.1 hypothetical protein FLJ39647 TADA2L 17q12-q21 transcriptional adaptor 2 (ADA2 homolog, yeast)-like DUSP14 17q12 dual specificity phosphatase 14 AP1GBP1 17p13.2 AP1 gamma subunit binding protein 1 DDX52 17q21.1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 TCF2 17q11.2-q12 transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 3431 - 406 - 2007 17664423
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus    
    Endocrinethyroid   highly
    Nervousbrainhindbraincerebellum  
     nervecranial nerve  highly
    Reproductivefemale systemovary  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text
  • expressed in the developing Purkinje cells
  • expressed early in the intermediate mesoderm and is one of the first genes to be expressed in the nephric mesenchyme
  • expressed in postmitotic, differentiating, and mature retinal horizontal cells
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two N terminal cysteine-rich LIM/double zinc finger motifs
  • an helix-turn-helix, DNA binding domain (homeodomain)
  • a proline rich region
  • conjugated
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in transcriptional regulation of neural and lymphoid cells
  • playing an essential role for controlling Purkinje cell differentiation in the developing mammalian cerebellum
  • required for normal organogenesis, including nephrogenesis, by regulating cell movements, differentiation and growth
  • acts as an oncogene in cancer cells
  • essential role in driving specification of the entire kidney field from the intermediate mesoderm
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development , neurogenesis
    text organogenesis; head organization
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding (homeodomain)
    RNA
    small molecule
    protein
  • OTX2 regulates DKK1 and LHX1 activity in the anterior mesendoderm
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL17Q12
    Susceptibility
    Variant & Polymorphism
    Candidate gene for aplasia of mullerian ducts
    for neurodevelopmental disorders in patients with del 17q12
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerurinary 
    targeting LHX1 may constitute an innovative therapeutic intervention in human clear cell renal cell carcinoma
    ANIMAL & CELL MODELS
    Mice with targeted mutation in the Hip1 gene (Hip1) develop a neurological phenotype characterized by failure to thrive, tremor, and gait ataxia