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FLASH GENE
Symbol CNBP contributors: mct/npt - updated : 24-10-2018
HGNC name CCHC-type zinc finger, nucleic acid binding protein
HGNC id 13164
Corresponding disease
DM2 myotonic dystrophy 2
Location 3q21.3      Physical location : 128.886.658 - 128.902.810
Synonym name
  • cellular retroviral nucleic acid binding protein 1
  • zinc finger protein 273
  • cellular nucleic acid binding protein alpha variant 1
  • zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)
  • erythroid differentiation-related
  • Synonym symbol(s) CNBP1, PROMM, RNF163, ZCCHC22, ZNF9, ZNF273, FLJ11631
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text a CCTG repeat in intron 1
    STRUCTURE 16.15 kb     5 Exon(s)
    regulatory sequence Promoter
    motif repetitive sequence   ALU   triplet   other
    text structure
  • CCTG expansion in intron 1
  • single nucleotide polymorphism located in the first intron, a C to A nucleotide change, which creates or disrupts and ApaI enzyme restriction site
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 3399 - 179 heart, skeletal muscle Flink, Ricker (1999)
    5 splicing 3396 18.7 178 heart, skeletal muscle Flink, Ricker (1999)
    lack the last 7 AA of the first zinc finger motif
    5 - 3378 - 172 - Ricker (1999)
    5 - 3375 - 171 - Ricker (1999)
    variant beta 1
    5 - 3372 - 170 - Ricker (1999)
    5 - 3393 - 177 - Ricker (1999)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     mouthtongue  highly
     stomach   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • seven zinc finger repeats
  • conjugated MetalloP
    HOMOLOGY
    Homologene
    FAMILY
  • zinc finger protein family
  • retroviral nucleic acid binding protein family
  • CATEGORY chaperone/stress , RNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • involved in sterol- mediated repression
  • with PCBP2, stimulate translation of the ornithine decarboxylase (ODC) internal ribosomal entry site (Gerbasi 2007)
  • appeared to function as part of a larger holo-ITAF ribonucleoprotein complex (Gerbasi 2007)
  • essential role in mediating neural crest expansion by controlling proliferation and cell survival rather than via a cell fate switch during rostral head development (Weiner 2007)
  • plays an essential and conserved role during vertebrate head development (Weiner 2007)
  • regulate cap-dependent and cap-independent translation (Huichalaf 2009)
  • is a nucleic acid chaperone implicated in vertebrate craniofacial development, as well as in myotonic dystrophy type 2 (DM2) and sporadic inclusion body myositis (sIBM) human muscle diseases
  • CNBP and LARP1, two of the most strongly enriched viral RNA binders, restrict SARS-CoV-2 replication in infected cells
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of an ITAF complex that promotes cap-independent translation (Gerbasi 2007)
  • INTERACTION
    DNA
    RNA RNA-binding protein
    small molecule
    protein
  • binding MBNL1
  • CNBP up-regulates TBX2 and SMARCA5, and down-regulates WNT5B gene expression
  • cell & other
  • cellular retroviral RNA binding
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DM2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS