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FLASH GENE
Symbol RB1CC1 contributors: mct/npt/pgu - updated : 10-07-2014
HGNC name RB1-inducible coiled-coil 1
HGNC id 15574
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
24 - 6670 - 1594 - 2009 19437535
24 - 6661 - 1591 - 2009 19437535
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver    
Nervousbrainmidbrain   
Reproductivefemale systemovary   
 male systemtestis   
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivecartilage    Homo sapiens
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Endocrineislet cell (alpha,beta...)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a nuclear localization signal (NLS)
  • a leucine zipper motif
  • a coiled-coil structure
  • a LIR motif to interact with ATG8 homologues
  • C-terminus of RB1CC1 required for nuclear localization and subsequent RB1 promoter activation
  • HOMOLOGY
    interspecies homolog to murine Cc1
    ortholog to yeast autophagy protein Atg17
    Homologene
    FAMILY
    CATEGORY transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text
  • nuclear matrix
  • interaction with PIAS4 redistributes it from the cytoplasm to the nucleus
  • basic FUNCTION
  • key regulator of RB1 gene expression
  • functions as a regulatory node to couple two important signaling pathways to regulate cell growth and survival during mouse embryogenesis
  • enhancing the transcriptional activation of the p21 promoter by PIAS4 whereas PIAS4 transcription activity is severely reduced upon RB1CC1 depletion by RNA interference
  • tumor suppressor implicated in the regulation of RB1 (retinoblastoma 1) expression
  • autophagy factor that functions together with ULK1 and ULK2
  • crucial signaling component to coordinately regulate different cellular events by its interaction with multiple signaling pathways
  • playing a role in the regulation of neuronal homeostasis through its function in autophagy
  • may play a role in homeostasis of neurons
  • key intrinsic regulator of fetal hematopoietic stem cells (HSCs) and implicate a potential role for autophagy in the maintenance of fetal hematopoiesis and HSCs
  • essentially requires binding with SMARCB1, a chromatin-remodeling factor) to activate the CDKN2A promoter, in order to enhance the RB1 pathway and acts as a tumor suppressor
  • new function in the regulation of DNA damage response and cell survival through its activity in autophagy
  • with ATG13, act in concert during autophagy induction
  • caused suppression of type II collagen synthesis in the differentiated chondrocytes through multimodal signaling involving Erk suppression and NFKB activation
  • role for RB1CC1 in tumor suppression in the presence of APC dysfunction
  • essential for autophagy induction in mammalian cells, resulting in a progressive loss of neural stem cells
  • RB1CC1-mediated autophagy contributes to the maintenance and functions of neural stem cells through regulation of oxidative state
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of ULK1-ATG13-RB1CC1 autophagy regulatory complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PIAS4-interacting protein (interaction depends on the integrity of the RING finger of PIAS4 and the C-terminus of RB1CC1)
  • binding to the GC-rich region of the RB1 promoter
  • activates the expression of CDKN2A through the activation of its promoter
  • RB1CC1/FIP200 is a novel positive regulator of TGFB signaling that functions as a substrate-selective cofactor of RNF111
  • TP53 regulates autophagy through a direct molecular interaction with RB1CC1, a protein that is essential for the very apical step of autophagy initiation
  • ATG13 function is strictly depends on RB1CC1 binding, and has an additional function independent of ULK1/2 (with RB1CC1, act in concert during autophagy induction) (
  • interacts with the oncoprotein CTNNB1
  • interaction between RB1CC1 and ATG16L1, essential components of the ULK1 and ATG5 complexes, respectively
  • RFWD2 modulates RB1CC1-associated activities, which may contribute to a variety of cellular functions that RFWD2 is involved in
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in breast cancer
    constitutional   deletion    
    in the neural progenitor cells led to several typical neuropathies, including abnormal accumulation of ubiquitinated protein aggregates, progressive axonopathy, and spongiform degeneration, as well as increased neuronal cell death
    constitutional   deletion    
    deletion in hematopoietic cells leads to perinatal lethality and severe anemia
    tumoral   deletion    
    resulted in multiple autophagy defects including accumulation of ubiquitinated protein aggregates and SQSTM1, and increased number of mitochondria with abnormal morphology in tumor cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    potential target for cancer therapy
    cancer  
    possibility of FIP200 or other autophagy proteins as a potential target for treatment to enhance the efficiency of cancer therapy using DNA damage-inducing agents
    ANIMAL & CELL MODELS
  • Col2-Rb1cc1 transgenic mice had a dwarf phenotype characterized by reduced production of type II collagen