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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
    Physical map
    NOX5 15q22.31 NADPH oxidase, EF hand calcium-binding domain 5 SPESP1 15q22.31 sperm equatorial segment protein 1 FLJ33768 15q22.31 hypothetical protein FLJ33768 GLCE 15q22.31 glucuronyl C5-epimerase MPRG 15q22.31 glucuronyl C5-epimerase KIF23 15q22-q23 kinesin family member 23 RPLP1 15q22 ribosomal protein, large, P1 LOC388130 15 LOC388130 LOC388131 15 LOC388131 TLE3 15q22 transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) UACA 15q22-q24 uveal autoantigen with coiled-coil domains and ankyrin repeats LOC123397 15q22.32 similar to 60S ribosomal protein L29 (Cell surface heparin binding protein HIP) FLJ11196 15q22.32 acheron LOC390601 15 similar to keratin 8, type II cytoskeletal - human THAP10 15q22.32 THAP domain containing 10 FLJ20156 15q22.32 hypothetical protein FLJ20156 LOC283675 15q22.32 similar to ribosomal protein L5; 60S ribosomal protein L5 LOC196993 15q22.32 hypothetical protein LOC196993 LOC390602 15 similar to High mobility group protein 1 (HMG-1) (Amphoterin) (Heparin-binding protein p30) LOC196994 15q22.32 similar to hypothetical protein LOC388132 15 similar to 60S ribosomal protein L17 (L23) FLJ13710 15q22.33 hypothetical protein FLJ13710 NR2E3 15q24 nuclear receptor subfamily 2, group E, member 3 MYO9A 15q22-q23 myosin IXA PRSC2 15q22.32 protease, cysteine, 2 (NEDD8 specific) LOC196996 15q22.33 hypothetical protein LOC196996 PKM2 15q24-q25 pyruvate kinase, muscle LOC56965 15q22.33 hypothetical protein from EUROIMAGE 1977056 BRUNOL6 15q24 bruno-like 6, RNA binding protein (Drosophila)
    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