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FLASH GENE
Symbol NFIB contributors: mct/pgu - updated : 20-06-2011
HGNC name nuclear factor I/B
HGNC id 7785
Location 9p22.3      Physical location : 14.081.841 - 14.398.982
Synonym name
  • TGGCA-binding protein
  • CCAAT-box-binding transcription factor
  • Synonym symbol(s) NFIB2, NFIB3, NFI-RED, HMGIC/NFIB, CTF
    DNA
    TYPE functioning gene
    STRUCTURE 232.10 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    LOC283479 9p23 similar to 40S ribosomal protein S26 LOC392286 9 similar to chromosome 15 open reading frame 12; mitochondrial ribosomal protein S4 LOC340479 9p23 similar to A-kinase anchor protein 8; A-kinase anchor protein, 95kDa TYRP1 9p23 tyrosinase-related protein 1 LOC286343 9p22.3 similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed TDPX2 9p22 thioredoxin-dependent peroxide reductase 2 (thiol-specific antioxidant 2, proliferation-associated gene B) MPDZ 9p24-p22 multiple PDZ domain protein LOC347193 9p22.3 similar to Pescadillo homolog 1 LOC138864 9p22.3 similar to ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d; ATP synthase, H+ transporting, mitochondrial F1F0, subunit d NFIB 9p24.1 nuclear factor I/B ZDHHC21 9p22.3 zinc finger, DHHC domain containing 21 CER1 9p23-p22 cerberus 1 homolog, cysteine knot superfamily (Xenopus laevis) FLJ25461 9p22.3 hypothetical protein FLJ25461 LOC158222 9p22.2 lactate dehydrogenase pseudogene LOC389705 9 similar to 2700029M09Rik protein LOC353329 9p22.2 PC4 and SFRS1 interacting protein pseudogene C9orf52 9p22.2 chromosome 9 open reading frame 52 LOC286348 9p22.2 similar to 60S ribosomal protein L7 SNAPC3 9pter small nuclear RNA activating complex, polypeptide 3, 50kDa PSIP2 9 PC4 and SFRS1 interacting protein 2 LOC347195 9p22.2 similar to Ferritin heavy chain (Ferritin H subunit) FLJ39267 9p22.2 myosin tail domain-containing protein MGC24103 9p22.2 hypothetical protein MGC24103 C9orf39 9p22.2-p22.1 chromosome 9 open reading frame 39 SH3GL2 9p22 SH3-domain GRB2-like 2 ADAMTSL1 9p22.1-p21.3 ADAMTS-like 1 FLJ35283 9p22.1 hypothetical protein FLJ35283 MGC35182 9p22.1 hypothetical protein MGC35182 PSMC3P 9p proteasome (prosome, macropain) 26S subunit, ATPase, 3 pseudogene RRAGA 9p21.3 Ras-related GTP binding A FAM29A 9p22.1 family with sequence similarity 29, member A ADFP 9p23-p22 adipose differentiation-related protein LOC253482 9p21.3 similar to 40S ribosomal protein S6 (Phosphoprotein NP33)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 8507 55 494 - 1997 9099724
    - splicing 8180 - 446 - 1997 9099724
    NFIB2
    9 - 8285 47.3 420 - 1997 9099724
  • truncated isoform generated by use of a premature polyadenylation site located in an intron
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Hearing/Equilibriumear   predominantly
    Nervousbrainhindbrainpons highly Homo sapiens
    Reproductivefemale systemuteruscervix highly
    Respiratorylung   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  moderately
    Epithelialabsorptive excretoryalveolar epithelium   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    Respiratoryepithelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text
  • moderately in umbilical cord
  • expressed in the developing telencephalon
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a CTF/NF-I DNA-binding domain
  • a DWA-MH1 domain
  • conjugated PhosphoP
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Nfib (99.1 pc)
    Homologene
    FAMILY
  • Nuclear Factor One family
  • CTF/NF-I family
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • recognizing the palindromic sequence 5'- TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2
  • being capable of activating transcription and replication
  • play roles in patterning, glial development, cortical cell migration and axon guidance
  • involved in the cooperative regulation of whey acidic protein (WFDC5) gene transcription along with the glucocorticoid receptor and STAT5
  • rearrangement of NFIB might be associated with deep-seated lipomas, such as retroperitoneal or gastro-intestinal lipomas
  • plays an important role in the generation of precerebellar mossy fiber neurons, and may do so at least in part by regulating neurogenesis
  • mesenchymal NFIB-mediated signals are essential for the maturation of distal lung epithelium
  • CUX1 and NFIB contribute to autism spectrum disorder susceptibility
  • CELLULAR PROCESS nucleotide, replication
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to the palindromic sequence 5'- TTGGCNNNNNGCCAA-3'
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion translocation    
    t(6;9)(q23.3;p22.3) translocation in adenoid cystic carcinomas (ACC) of the breast and head and neck results in fusions encoding chimeric transcripts predominantly consisting of MYB exon 14 linked to the last coding exon(s) of NFIB
    tumoral fusion      
    in a case of retroperitoneal lipoma, fusion of HMGA2 with NFIB with a t(9;16;19)(p22;q21;q13) and a rearrangement of NFIB and no rearrangement of HMGA2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • novel and specific biomarker for oxaliplatin resistance in human cancers
  • Therapy target
    SystemTypeDisorderPubmed
    cancer  
    gain-of-function activity resulting from the MYB-NFIB fusion is a candidate therapeutic target
    ANIMAL & CELL MODELS
  • Nfia and Nfix null mice exhibit no apparent pontine phenotype, implying specificity in the action of NFI family members
  • Nfib-deficient mice possess unique defects in lung maturation and exhibit callosal agenesis and forebrain defects that are similar to, but more severe than, those seen in Nfia-deficient animals