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FLASH GENE
Symbol UTP4 contributors: mct - updated : 08-12-2010
HGNC name UTP4 small subunit processome component
HGNC id 1983
Corresponding disease
NAIC north america indian childhood cirrhosis
Location 16q22.1      Physical location : -
Synonym name
  • cirhin
  • North American Indian childhood cirrhosis
  • testis expressed gene 292
  • cirrhosis, autosomal recessive 1A (cirhin)
  • Synonym symbol(s) NAIC, CIRHIN, TEX292, FLJ14728, KIAA1988, FLJ17146, CIRH1A
    DNA
    TYPE functioning gene
    STRUCTURE 36.44 kb     17 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 2268 - - - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel    
    Digestiveliver    
     mouthtongue   
     stomach    
    Lymphoid/Immunethymus    
    Nervousbrain    
    Reproductivefemale systemuteruscervix highly
    Respiratoryrespiratory tractlarynx   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye, liver
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal mitochondrial targeting peptide
  • ten WD repeats
  • C-terminal monopartite nuclear localization signal (NLS), potentially required for ribosome biogenesis
  • HOMOLOGY
    interspecies ortholog to murine Cirh1a
    Homologene
    FAMILY
    CATEGORY regulatory , signaling , receptor membrane G
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • WD repeat protein may be involved in signal transduction
  • transcriptional regulatory factor of NF-kappaB sequence and could be a participant in the regulation of other genes with NF-kappaB responsive elements (up-regulates a canonical NF-kappaB element through strong interaction with HIVEP1)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with HIVEP1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NAIC
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS