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FLASH GENE
Symbol WSB1 contributors: mct - updated : 23-04-2012
HGNC name WD repeat and SOCS box-containing 1
HGNC id 19221
Location 17q11.1      Physical location : 25.621.105 - 25.640.645
Synonym name
  • SOCS box-containing WD protein SWiP-1
  • Synonym symbol(s) SWIP1, WSB-1
    DNA
    TYPE functioning gene
    STRUCTURE 19.54 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC390778 17 hypothetical gene supported by NM_021012 LOC388361 17 similar to PDZ and LIM domain 1 (elfin); carboxy terminal LIM domain protein 1; enigma homolog LOC388362 17 LOC388362 LOC253251 17q11.2 similar to 40S ribosomal protein S16 WSB1 17q11.2 SOCS box-containing WD protein SWiP-1 LOC390779 17 similar to ubiquitin specific protease 6; tre-2 oncogene; hyperpolymorphic gene 1 KSR 17q11.1 kinase suppressor of ras LGALS9 17q11.1 lectin, galactoside-binding, soluble, 9 (galectin 9) LOC390780 17 similar to ubiquitin specific protease 6; tre-2 oncogene; hyperpolymorphic gene 1 LOC390781 17 similar to galectin-9 NOS2A 17q11.2 nitric oxide synthase 2A (inducible, hepatocytes) LOC390782 17 similar to 60S ribosomal protein L10 (QM protein) (Tumor suppressor QM) (Laminin receptor homolog) NLK 17q11.2 nemo-like kinase PYY2 17q11.1-q11.2 peptide YY, 2 (seminalplasmin) PPY2 17q11.1-q11.2 pancreatic polypeptide 2 LOC339274 17q11.2 similar to Hypothetical protein KIAA0563 FLJ40504 17q11.2 hypothetical protein FLJ40504 MAC30 17q11.2 hypothetical protein FLJ40504
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 splicing 2849 47 421 - 2005 15965468
    the longest isoform
    - splicing 4205 - 244 - 2005 15965468
    contains an additional segment in the coding region, resulting in a frameshift and an early stop codon, isoform 3 is shorter ans has a distinct C-terminus
    7 splicing 2411 - 275 - 2005 15965468
    lacks two exons in the 5' coding region, then isoform 2 lacks a 147aa portion in the N-ter
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Lymphoid/Immunelymph node   highly
     spleen   highly
    Respiratoryrespiratory tracttrachea  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six WD-40 repeats
  • an SOCS box domain
  • HOMOLOGY
    Homologene
    FAMILY WD protein subfamily
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • involved in intracellular signaling cascade
  • may regulate protein turnover by targeting proteins for polyubiquitination and therefore for proteasome-mediated degradation
  • mediates a mechanism by which systemic thyroid hormone can effect local control of the Hedgehog-PTHrP negative feedback loop and thus skeletogenesis
  • promotes the ubiquitination and degradation of HIPK2, a process in which both WD40 repeats and the SOCS box are required for the recognition and degradation of HIPK2
  • has a role in the tuning of the maturation and degradation of IL21R
  • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component part of an E3 ubiquitin ligase for the thyroid-hormone-activating type 2 iodothyronine deiodinase (D2)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with HIPK2 (ubiquitination and degradation of HIPK2 that is maintained at a low level, by WSB1 in cells under normal conditions, and stabilized by genotoxic stresses)
  • associating with the middle part of intracytoplasmic region of IL21R and enhances the maturation of IL21R from N-linked glycosylated form to fully glycosylated mature form
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    associated with good outcome in patients with neuroblastoma of all stages
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS