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FLASH GENE
Symbol CTNNBL1 contributors: mct - updated : 14-01-2012
HGNC name catenin, beta like 1
HGNC id 15879
Location 20q11.23      Physical location : 36.322.433 - 36.500.519
Synonym name chromosome 20 open reading frame 33
Synonym symbol(s) NAP, P14, P14L, C20orf33, FLJ21108, NYD-SP19
DNA
TYPE functioning gene
STRUCTURE 178.09 kb     16 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
5 - 1897 - 563 - Liu (2008)
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
 pharynx   highly
 salivary gland   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an acidic domain,
  • a putative bipartite nuclear localization signal
  • a nuclear export signal
  • a leucine-isoleucine zipper, and phosphorylation motifs
  • Armadillo/beta-catenin-like repeats, implicated in protein-protein interactions, and used to bind NLS-containing partners
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • playing a role in the regulation of apoptosis
  • CTNNBL1 is dispensable for Ig class switch recombination
  • nuclear localization signal-binding protein, distinct from KPNA1, with the results suggesting a possible role in the selective intranuclear targeting or interactions of some splicing-associated complexes
  • might play a role in stabilizing interactions between snRNP components within the nucleus
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with STAMBP
  • AICDA-specific interactor
  • widely expressed nuclear protein that associates with the PRPF19 complex of the spliceosome, interacting with its CDC5L component
  • one of the few identified activation-induced cytidine deaminase-interacting factors
  • associated with PRPF19-containing RNA-splicing complexes as well as with the antibody-diversifying enzyme AICDA
  • CTNNBL1 interaction with its known partners (the PRPF19-CDC5L complex and AICDAD) is mediated by recognition of NLS motifs
  • PRPF31 is a new CTNNBL1 interactor, with recognition also occurring through its NLS
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to obesity
    Variant & Polymorphism SNP
  • increasing the BMI
  • rs6013029 and rs6020846 were confirmed to associate with morbid obesity
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS