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FLASH GENE
Symbol IFRD1 contributors: mct/pgu - updated : 06-06-2012
HGNC name interferon-related developmental regulator 1
HGNC id 5456
Corresponding disease
SCA18 spinocerebellar ataxia 18
Location 7q31.1      Physical location : 112.063.225 - 112.116.244
Synonym name
  • tetradecanoyl phorbol acetate induced sequence 7
  • nerve growth factor-inducible protein PC4
  • positive cofactor 4
    • Synonym symbol(s) PC4, TIS7, IFR1
    DNA
    TYPE functioning gene
    STRUCTURE 54.06 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D7S523 - IFRD1 - D7S486 - qter
    RNA
    TRANSCRIPTS type messenger
    text variants 1, 2 encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 3404 - 401 - 1998 9722946
    12 - 2273 50.14 451 - 1998 9722946
    13 - 3514 50.14 451 - 1998 9722946
    12 - 3512 - 401 - 1998 9722946
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerythroid
    Blood/Hematopoieticneutrophil
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal, pregnancy
    Text differentiating tissues such as nervous tissue, kidney, lung, fetal liver
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to rattus PC4
    homolog to murine Ifrd
    homolog to C.elegans f58b3.6
    Homologene
    FAMILY
  • IFRD family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,ribosome
    intracellular,nucleus
    basic FUNCTION
  • may be playing a role in regulating gene activity in the proliferative and/or differentiative pathways induced by NGF
  • transcriptional co-repressor affecting the expression of specific genes in a HDAC activity-dependent manner during cell fate decisions, e.g. scattering
  • having a general effect on the translation system
  • negative regulator of transcriptional activity repressing expression of SPP1 and beta-catenin/TCF7L2 target genes, which are involved in myogenesis, muscle maintenance, and regeneration in a histone deacetylase dependent manner
  • modulates the pathogenesis of cystic fibrosis lung disease through the regulation of neutrophil effector function
  • modulates disease severity in cystic fibrosis through the regulation of neutrophil effector function
  • mediates transcriptional co-repression through interaction with histone deacetylase (HDAC) enzymes and has been implicated in cell differentiation and stress response pathways
  • functions as a negative regulator of NFKB1, known to inhibit MYOD1 expression post-transcriptionally
  • plays a role in muscle differentiation by controlling the MyoD pathway through multiple mechanisms, and as such, it positively regulates regenerative myogenesis
  • may play an important role in controlling inflammatory response in airway epithelium
  • strongly stimulated transcription on a linearized template, whereas it alleviated transcription on a supercoiled template
  • stimulated both basal and activated transcription
  • plays essential roles in the transition step from transcription initiation to elongation by binding to melted DNA in collaboration with GTF2E2
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text muscle development differentiation
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SIN3B, HDAC1, NCOR1, SAP30
  • act through a recruitment of different HDACs
  • function as a coactivator of MYOD1 by promoting the transcriptional activity of myocyte enhancer factor 2C (MEF2C)
  • bound to CDK7
  • bound to the C-terminal region of GTF2E2 adjacent to the basic region
    • cell & other
    REGULATION
    Other cellular stress regulates expression of IFRD1 by a post-transcriptional control mechanism
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA18
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in a CF (delta F508del) patient-derived bronchial epithelial cell line
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    respiratoryCF (mucoviscidosis) 
    targeting neutrophil effector function through IFRD1 or HDAC1 could be a promising strategy to ameliorate the debilitating chronic lung infections associated with mucoviscidosis (CF)
    respiratoryCF (mucoviscidosis) 
    targeting airway epithelial cells through IFRD1 might be a new promising strategy to ameliorate the chronic airway inflammation and oxidative stress associated with CF
    ANIMAL & CELL MODELS
  • Ifrd1 gene product is detectable in tracheal epithelium from both newborn and adult F508del-CFTR mice