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FLASH GENE
Symbol LZTR1 contributors: mlc - updated : 25-06-2020
HGNC name leucine-zipper-like transcriptional regulator, 1
HGNC id 6742
Corresponding disease
NS10 Noonan syndrome 10
Location 22q11.21      Physical location : 21.336.557 - 21.353.325
Synonym name
  • leucine-zipper-like regulator-1
  • epididymis secretory sperm binding protein
  • Synonym symbol(s) LZTR-1, MGC21205, TCFL2, BTBD29, NS10, NS2, SWNTS2
    DNA
    TYPE functioning gene
    STRUCTURE 16.74 kb     21 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 4282 - 840 - 2019 30872527
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid   highly
    Respiratoryrespiratory tractlarynx  highly
    Visualeye   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text brain, lung, liver, kidney
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six N-terminal kelch motifs
  • basic leucine zipper (bZIP) protein with PEST sequences
  • two BTB/POZ domains at the C terminus (the second mediating the binding to the Golgi complex)
  • HOMOLOGY
    Homologene
    FAMILY BTB-kelch superfamily
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • may help stabilize the Gogli complex
  • play important roles during fundamental cellular processes, such as the regulation of cell morphology, migration, and gene expression
  • probable transcriptional regulator that may play a crucial role in embryogenesis
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • LZTR1 acts as a conserved regulator of RAS ubiquitination and MAPK pathway activation
  • LZTR1 is a RIT1 interactor, that acts as an adaptor for protein degradation
  • LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases MRAS, HRAS, NRAS, and KRAS
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NS10
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in DiGeorge syndrome
    Susceptibility to an autosomal dominant inherited disorder of multiple schwannomas
    Variant & Polymorphism other
  • germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Lztr1 deletion in blood vessels of adult mice leads to abnormal vascular leakage