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FLASH GENE
Symbol HMX1 contributors: mct/npt - updated : 11-04-2008
HGNC name H6 family homeobox 1
HGNC id 5017
Corresponding disease
OCAUS oculo-auricular syndrome
Location 4p16.1      Physical location : 8.868.772 - 8.873.543
Synonym name
  • homeo box (H6 family) 1
  • homo sapiens chromosome 4p homeobox mRNA sequence
  • Synonym symbol(s) H6, NKX5-3
    DNA
    TYPE functioning gene
    STRUCTURE 4.00 kb     2 Exon(s)
    regulatory sequence Promoter
    Binding site
    text structure presence of enhancer and repressive elements on the promoter
    MAPPING cloned Y linked Y status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1896 - 348 - Amendt (1999)
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumear    
    Nervousbrain    
    Respiratorylung    
    Visualeye    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text developing craniofacial region
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • helix-turn-helix, DNA binding domain
  • a classsical homeobox domain (HD)
  • HOMOLOGY
    interspecies homolog to Drosophila NK-3/NK-1
    Homologene
    FAMILY
  • HMX family of homeodomain proteins
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • may be involved in the craniofacial development
  • implicated in the axial patterning of the retina
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with NKX2.5 (bind a unique DNA sequence and act as transcriptional antagonists)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OCAUS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS