Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MNX1 contributors: mct/npt - updated : 14-04-2015
HGNC name motor neuron and pancreas homeobox 1
HGNC id 4979
Corresponding disease
DEL7Q36 chromosome 7q36 terminal deletion
SCRA Currarino syndrome
Location 7q36.3      Physical location : 156.797.546 - 156.803.347
Synonym name
  • homeo box HB9
  • sacral agenesis, autosomal dominant (Currarino triad)
  • Synonym symbol(s) HLXB9, HB9, HOXHB9, SCRA, HOXHB9, SAAG
    DNA
    TYPE functioning gene
    STRUCTURE 5.80 kb     3 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2176 - 401 - 2012 23048027
    3 - 1620 - 189 - 2012 23048027
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    digestiveesophagus    
    Digestiveintestinesmall intestine   
     pharynx    
     stomach    
    Endocrinepancreas    
    nervousbrainspinal cordanterior horn  
    Reproductivemale systemprostate  moderately
    Respiratorylung   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoietictonsils   
    Epithelialsecretoryglandularendocrine 
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneB cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text sacral region during embryogenesis, anterior spinal horn, basal plate
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • polyalanine repeat region
  • a highly conserved domain of unknown functions
  • a helix-turn-helix, DNA binding domain
  • a nuclear localization signal (NLS) within the homeobox
  • HOMOLOGY
    interspecies homolog to Drosophila proboscipedia (distantly)
    homolog to murine Hlxb9
    Homologene
    FAMILY
  • homeobox domain protein family (non HOX)
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • regulating gene transcription in lymphoid and pancreatic tissues
  • implicated in the development of both solid and hematological malignancies
  • may have a dual role in childhood leukemia, as an oncogene in infant AML but as a tumor suppressor in childhood ALL
  • is an important factor for beta-cell proliferation and insulin regulation
  • role for MNX1 in human pancreatic beta-cell development
  • key role in development of the human pancreas
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with MEN1 and reduces cell proliferation and causes apoptosis in the presence of menin, and it regulates genes that modulate insulin level
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCRA , DEL7Q36
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    fused with ETV6 in t(7;12)(q36;p13) in myeloid malignancy with poor prognosis
    constitutional germinal mutation      
    causes neonatal diabetes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS