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FLASH GENE
Symbol BRINP1 contributors: mct/pgu - updated : 13-09-2015
HGNC name bone morphogenetic protein/retinoic acid inducible neural-specific
HGNC id 2687
Location 9q33.1      Physical location : -
Synonym name
  • deleted in bladder cancer chromosome region candidate 1
  • protein FAM5A
  • bA574M5.1 (deleted in bladder cancer chromosome region candidate 1 (IB3089A))
  • Synonym symbol(s) FAM5A, DBCCR1, TSG9C, DBC1
    DNA
    TYPE functioning gene
    STRUCTURE 202.83 kb     8 Exon(s)
    regulatory sequence cytosine-phosphate-guanine/HTF
    text structure inactivated by hypermethylation of cpg
    MAPPING cloned Y linked N status provisional
    Map cen - GAS1 - (D9S153 - D9S283 - D9S12 - PTCH - D9S280 - D9S271 - D9S172 - D9S279 - D9S262 - [D9S155 - D9S177 - D9S170 - D9S154 ] - {D9S275 - D9S1848 - D9S1872 - D9S195} - D9S258 - D9S103 - D9S275 - GSN - D9S1793 - D9S66 - D9S63 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 3196 - 761 - 1999 10444335
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland   highly
    Nervousbrain   moderately
    Respiratorylung   moderately
     respiratory tractlarynx  highly
    Urinarykidney   moderately
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/lininguroepithelium  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • MAC/perforin domain
  • seven potential N glycosylation sites
  • four N-myristoylation sites and thirty phosphorylation sites
  • HOMOLOGY
    interspecies homolog to murine Dbccr1
    Homologene
    FAMILY
  • FAM5 family
  • CATEGORY secretory , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • possible physiological functions of BRINP family members in the development of the nervous system
  • general role in tumour suppression with mechanisms of inactivation differing between tumour types
  • putative tumor suppressor that has been shown to be involved in the regulation of cell growth and programmed cell death
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    by hypermethylation in bladder cancer
    tumoral   deletion    
    in bladder carcinoma, ovarian cancer, squamous cell carcinoma of esophagus, large B cell lymphoma
    tumoral   LOH    
    in hepatocellular carcinoma, urinary-bladder cancer, breast cancer, tuberous sclerosis, hamartoma
    tumoral   amplification    
    in large B cell lymphoma and in laryngeal and pharyngeal squamous cell carcinoma
    tumoral somatic mutation      
    in nevoid basal cell carcinoma
    tumoral       loss of function
    in non-small cell lung cancer by hypermethylation of the promoter or homozygous deletion
    tumoral   LOH    
    and hypermethylation of the promoter frequent and possibly early events in oral malignant development
    tumoral     --low  
    by hypermethylation of the promoter region is a frequent event during the development of lymphoproliferative malignancies
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • DBC1 hypermethylation may serve as a marker for malignant lymphoproliferative neoplasms
  • Therapy target
    ANIMAL & CELL MODELS