Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol RCBTB1 contributors: SGE/npt/pgu - updated : 20-09-2016
HGNC name regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1
HGNC id 18243
Corresponding disease
CORD25 retinal cone-rod dystrophy 25
RDEOA retinal dystrophy with or without extraocular anomalies
Location 13q14.2      Physical location : 50.106.081 - 50.159.719
Synonym name
  • CLLL7 protein
  • RCC1 and BTB domain-containing protein 1
  • CLL deletion region gene 7 protein
  • Chronic lymphocytic leukemia deletion gene 7
  • GDP/GTP exchange factor (GEF)-like protein
  • chronic lymhpocytic leukemia deletion region gene 7 protein
  • regulator of chromosome condensation and BTB domain-containing protein 1
  • Synonym symbol(s) FLJ10716, CLLD7, GLP, CLLL7, MGC33184, RP11-185C18.1, E4.5
    DNA
    TYPE functioning gene
    STRUCTURE 53.66 kb     13 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
    13 - 4042 - 531 - 2010 20926398
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrinepancreas   highly
    Hearing/Equilibriumearinnercochlea moderately Homo sapiens
    Visualeyeretina  predominantly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE) highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six RCC1 domains
  • a regulator of chromosome condensation 1 (RCC1)-like domain (RLD)
  • two broad complex, tramtrack, and bric-a-brac (BTB) domains (POZ-BTB domains)
  • HOMOLOGY
    interspecies homolog to murine Rcbtb1 (95.9pc)
    homolog to rattus Rcbtb1 (95.9pc)
    Homologene
    FAMILY
    CATEGORY regulatory , DNA associated
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text
  • small vacuoles of the cytoplasm
  • plasma membrane
  • co-expression of CUL3 (cullin 3) and RCBTB1 in the human retina and RPE
  • basic FUNCTION
  • potentially involved in cell cycle regulation and transcriptional control
  • may be involved in critical cellular processes such as cell cycle and transcriptional control and could therefore be directly or indirectly involved in leukemogenesis
  • may be involved in cellular hypertrophy
  • biological actions of RCBTB1 are consistent with those of a tumor suppressor
  • may be involved in cell cycle regulation by chromatin remodeling
  • very recently shown to be involved in ubiquitination, more specifically as a CUL3 substrate adaptor
  • CELLULAR PROCESS cell cycle
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text leukemogenesis
    PATHWAY
    metabolism
    signaling
  • RCBTB1 participates in the NDP/FZD4 signaling pathway
  • a component
    INTERACTION
    DNA chromatin
    RNA
    small molecule
    protein
  • interacting with AGTR1A
  • putative substrate adaptor for a cullin3 (CUL3) E3 ligase
  • potential role for RCBTB1 in retinal angiogenesis through Norrin-induced CTNNB1 signaling
  • in addition to regulating NFE2L2, RCBTB1 might exert other functions
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CORD25 , RDEOA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    may lead to defects in angiogenesis through the NDP-dependent Wnt pathway
    constitutional germinal mutation      
    is associated with Coats disease and familial exudative vitreoretinopathy
    Susceptibility
    Variant & Polymorphism
    Candidate gene frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies
    Marker
    Therapy target
    ANIMAL & CELL MODELS