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FLASH GENE
Symbol ARID4B contributors: mct - updated : 21-08-2010
HGNC name AT rich interactive domain 4B (RBP1- like)
HGNC id 15550
Location 1q42.3      Physical location : 235.330.210 - 235.491.532
Synonym name
  • retinoblastoma binding protein 1-like 1
  • breast carcinoma-associated antigen BCAA
  • RBP1-like protein
  • Rb-binding protein homolog
  • SIN3A-associated protein 180
  • Synonym symbol(s) BCAA, BRCAA1, SAP180, RBP1L1, RBBP1L1, DKFZp313M2420, MGC163290
    DNA
    TYPE functioning gene
    STRUCTURE 196.00 kb     24 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 6067 147.8 1312 - Fleischer (2003)
    23 - 5809 137.6 1226 - Fleischer (2003)
    lacking exon 18, leading to a shorter isoform missing an internal segment compared to isoform 1
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus   lowly
    Reproductivefemale systemovary  lowly
     male systemtestis  highly
     male systemprostate  lowly
    cell lineage
    cell lines highly expressed in breast, lung, colon, pancreatic, ovarian carcinomas
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a Tudor domain
  • a ARID/BRIGHT DNA binding domain
  • two RRM (rna recognition motif) domains
  • HOMOLOGY
    interspecies ortholog to rattus arid4b
    ortholog to murine Arid4b
    Homologene
    FAMILY
  • RBM334 family
  • CATEGORY antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • antigenic epitope (IKPSLGSKK) recognized by IgG antibodies
  • may be a molecular marker associated with a broad range of human malignancies
  • member of epigenetic complexes regulating genomic imprinting at the PWS/AS domain (Wu 2006)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • components of the mSin3A corepressor complex
  • INTERACTION
    DNA binding
    RNA binding
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in cancer cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    heterozygous deficiency for Rbbp1l1/Arid4b altered epigenetic modifications at the Prader-Willi syndrome -IC with reduced trimethylation of histone H4K20 and H3K9 and reduced DNA methylation, changing the maternal allele toward a more paternal epigenotype (Wu 2006)