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FLASH GENE
Symbol NBR1 contributors: mct - updated : 17-05-2010
HGNC name neighbor of BRCA1 gene 1
HGNC id 6746
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
21 - 4619 107.7 966 - 1994 8069304
21 - 4995 107.7 966 - 1994 8069304
an additional internal fragment in the 5' UTR
21 - 4676 107.7 966 - 1994 8069304
lacking an internal fragment of 5'UTR, but including a longer 3'UTR
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systemuteruscervix highly
 male systemtestis  highly
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
cells
SystemCellPubmedSpeciesStageRna symbol
Skeletonosteoblast
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one ZZ-type zinc finger
  • an octicosapeptide repeat (OPR) domain
  • a B box domain
  • C terminus containing a novel membrane-interacting amphipathic alpha-helix, which is essential for the late endocytic localization of the protein but not for its effect on receptor tyrosine kinases (RTK) degradation
  • mono polymer homomer , heteromer , oligo
    HOMOLOGY
    interspecies homolog to murine Nbr1 (85.9pc)
    homolog to rattus Nbr1 (85.7pc)
    Homologene
    FAMILY
    CATEGORY antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    text colocalizing with FEZ1, shifting to the perinuclear compartment when coexpressed with CIB1
    basic FUNCTION
  • putatively involved in BRCA1 regulation
  • autophagic receptor for ubiquitin-positive protein aggregates ,
  • targeting SQSTM1 to sarcomeres where it interacts with MURF2
  • functions as an autophagy receptor involved in targeting ubiquitinated proteins for degradation
  • role in bone remodeling, where loss of function leads to perturbation of SQSTM1 levels and hyperactivation of MAPK14 that favors osteoblastogenesis
  • modulates MAPK14 signaling in osteoblasts and is a regulator of osteoblast differentiation
  • play fundamental roles in the control of bone remodeling through the regulation of signaling pathways in different cell types
  • novel PB1 adapter in Th2 differentiation and asthma
  • multidomain scaffold protein with proposed roles in endocytic trafficking and selective autophagy
  • negative regulator of ligand-mediated receptor tyrosine kinases degradation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CIB1, FEZ1 (function, through interaction with CIB and FEZ1 in cell signaling pathways, with a developmentally restricted expression suggesting a possible role in neural development)
  • interacting with LC3
  • interacting with TTN, RNF29
  • interacting with SPRED2 and down-regulating FGF receptor signaling
  • binding to MAP1LC3A
  • SPRED2 interaction with the late endosomal protein NBR1 down-regulates fibroblast growth factor receptor signaling
  • MAP1B interaction with the FW Domain of the autophagic receptor NBR1 facilitates its Association to the microtubule network
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    osteoarticularboneostéoporosis
    identification of the detailed mechanism by which the NBR1 truncation leads to increased bone mass may be amenable to pharmacological manipulation to increase bone mass in osteoporotic patients
    ANIMAL & CELL MODELS
  • truncation of the Nbr1 protein in mice results in an age-dependent increase in bone mass and BMD because of elevated osteoblast activity
  • T-cell-specific Nbr1-deficient mice show impaired lung inflammation and have defective Th2 differentiation