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FLASH GENE
Symbol NFIX contributors: mct - updated : 19-09-2017
HGNC name nuclear factor I/X (CCAAT-binding transcription factor)
HGNC id 7788
Corresponding disease
MSMS Marshall-Smith syndrome
STOL1 Sotos-like syndrome 1
Location 19p13.2      Physical location : 13.106.583 - 13.209.609
Synonym name
  • CCAAT-box-binding transcription factor
  • TGGCA-binding protein
    • Synonym symbol(s) NFI, NF1A, NF-I/X, NFI-X, CTF
    DNA
    TYPE functioning gene
    STRUCTURE 103.03 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 5576 - 441 - 1995 7590749
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainlimbic systemhippocampus highly
     brainforebraincerebral lobefrontalpredominantly
     braindiencephalonthalamus highly
    Reproductivefemale systemovary  highly
     male systemprostate  highly
    Urinarybladder   highly
    Visualeyelens   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    Muscularstriatumskeletal highly
    Nervouscentral  predominantly
    Nervousperipherous  predominantly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text
  • normally expressed prenatally during human brain development and skeletogenesis
  • expressed in the developing telencephalon
    • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one DWA//MH1 domain
  • a CTF/NF-I DNA-binding domain
  • two nuclear localization sequences, and both are required for full translocation to the nucleus, although one of them itself has a partial translocation ability
    • conjugated Other
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Nfix (99.8pc)
    homolog to rattus Nfix (100.00pc)
    Homologene
    FAMILY
  • nuclear factor one (NFI) gene family
    • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in DNA replication
  • recognizes and binds the palindromic sequence 5'- ttggcnnnnngccaa-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2
  • cooperating with activatory protein-1 by an unknown mechanism in astrocytes, which results in the expression of a subset of astrocyte-specific genes
  • play roles in patterning, glial development, cortical cell migration and axon guidance
  • essential for normal brain development and may be required for neural stem cell homeostasis
  • involved in the control of the expression of astrocytes markers at late stage of differentiation (PMID
  • activates the transcription of fetal specific genes such as CKM and ENO3 while repressing embryonic genes such as slow myosin
  • transcriptional switch from embryonic to fetal myogenesis
  • may be having a key role in chondrocyte differentiation, bone formation and in the endochondral ossification process
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forms a complex with PKC theta and activates MEF2A
    • INTERACTION
    DNA binds DNA as a homodimer
    RNA
    small molecule
    protein
  • HSF1 bind to the NFIX promoter and repress its expression in a heat shock sensitive manner
  • under chronic heat shock, NFIX uses CGGBP1 and HMGN1 to get recruited to this promoter and in turn affects their binding to DNA
  • BBX is a downstream target of NFIX during development of the forebrain
    • cell & other
    REGULATION
    activated by PAX7 in fetal muscle
    Other inhibition of NFIX binding by c-jun plays a role in regulating levels of polyomavirus JC
    ASSOCIATED DISORDERS
    corresponding disease(s) MSMS , STOL1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS