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FLASH GENE
Symbol NKX6-1 contributors: npt/mct/pgu - updated : 02-10-2014
HGNC name NK6 homeobox 1
HGNC id 7839
Location 4q21.23      Physical location : 85.414.435 - 85.419.387
Synonym name
  • NK6 transcription factor homolog A (Drosophila)
  • NK6 transcription factor related, locus 1 (Drosophila)
  • NK homeo box, family 6, member A
  • Synonym symbol(s) HK61, NKX6A, NKX6.1
    DNA
    TYPE functioning gene
    STRUCTURE 4.95 kb     3 Exon(s)
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    text structure
  • novel beta-cell-specific enhancer element between -157 and -30 bp (relative to the transcriptional start site) that harbors a conserved A/T-containing sequence flanked by G/C-rich stretches
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1116 - 367 - 2004 15056733
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas   highly Homo sapiensAdult
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiensAdult
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • helix-turn-helix, DNA binding domain, homeodomain
  • HOMOLOGY
    interspecies homolog to Drosophila NK homeobox family member
    homolog to murine Nkx6.1
    Homologene
    FAMILY
  • NKX family of homeodomain-containing transcription factor
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,nucleus
    basic FUNCTION
  • putatively involved in islet development and/or regulation of insulin biosynthesis
  • in the pancreas, required for the development of beta-cells and believed to function as a potent repressor of transcription upon binding to A/T-rich sequences within the promoter region of target genes
  • bifunctional transcription factor that serves to maintain the specific expression of its own gene during beta-cell differentiation while simultaneously effecting broader gene repression events
  • distinct requirements for NKX6-1 and NKX6-2 in endocrine differentiation are a consequence of their divergent spatiotemporal expression domains rather than their biochemical activities
  • both NKX6-1 and NKX6-2 possess alpha- and beta-cell-specifying activities
  • is among the very rare factors capable of stimulating beta-cell replication with retention or enhancement of function
  • novel regulator of HNF1alpha in pancreatic beta cells
  • potential role for NKX6-1 in promoting PDX1 reprogrammed cells maturation along the beta-cell-like lineage
  • is both necessary and sufficient to specify insulin-producing beta cells
  • controls a gene regulatory network required for establishing and maintaining pancreatic Beta cell identity
  • NKX6-1-controlled gene regulatory network is essential for maintaining the functional and molecular traits of mature beta cells
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling hormonal
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • binds to a cis-regulatory element in the HNF1A promoter and is a major regulator of this gene in pancreatic beta cells
  • cross-antagonism between NKX6-1, NKX6-2 and PTF1A in multipotent progenitors governs the equilibrium between endocrine and acinar cell neogenesis required for normal pancreas development
  • ARX is a direct target of NKX6.1
  • induces expression of NR4A1 and NR4A3 orphan nuclear receptors, and these factors are both necessary and sufficient for NKX6-1-mediated beta-cell proliferation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    gastric expression is down-regulated in H. pylori infection and incisural antralisation
    constitutional     --low  
    in type 2 diabetic beta cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS