Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol UACA contributors: mct - updated : 25-01-2017
HGNC name uveal autoantigen with coiled-coil domains and ankyrin repeats
HGNC id 15947
Location 15q23      Physical location : 70.946.894 - 71.055.850
Synonym name
  • hypothetical protein FLJ10128
  • nuclin
  • Synonym symbol(s) FLJ10128, KIAA1561, MGC141967, MGC141969, NUCLING
    DNA
    TYPE functioning gene
    STRUCTURE 124.27 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 6873 - 1415 - 2001 11162650
    19 - 7096 - 1403 - 2001 11162650
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid   highly
    Hearing/Equilibriumearinnercochlea highly
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningretinal pigment epithelium (RPE)  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentmelanocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • coiled-coil domains and ankyrin repeats
  • rodlike tail sequence highly repetitive, with an heptapeptide repeat pattern characteristic of alpha-helical coiled coils and that may form filamentous structures in the cell
  • C-terminal coiled-coil domain of UACA functions as a GTP-dependent RAB39A/B-binding domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY antigen , transport carrier
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    basic FUNCTION
  • required for protein transport from the ER to the golgi complex
  • novel function of UACA as a suppressor of NFKB1, mediated by its cytoplasmic retention through physical interaction
  • proapoptotic protein that regulates the apoptosome and nuclear factor-kappa B (NFKB1) signalling pathways
  • is likely important for the induction of apoptosis in cells damaged by cytotoxic stressors through the NFKB1 signalling pathway
  • functions as a RAB39A effector in the retinoic acid-induced differentiation of Neuro2A cells
  • is an important regulator of involution of the mammary gland
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with STAMBP
  • APAF1-binding proapoptotic protein involved in apoptosome-mediated apoptosis
  • NFKB1 regulates the expression of UACA, a novel apoptosis regulator, with involvement of proteasome and caspase for its degradation
  • specific RAB39A/B-binding protein
  • played an important role in mammary gland involution by regulating NFKB1 and STAT3 signaling pathways
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    of APIP and UACA in non-small cell lung carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS