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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
Location 8q11.23      Physical location : 53.535.018 - 53.627.026
Synonym name
  • focal adhesion kinase family-interacting protein of 200 kDa
  • 200 kDa FAK family kinase-interacting protein
  • Synonym symbol(s) CC1, KIAA0203, DRAGOU14, FIP200
    DNA
    TYPE functioning gene
    STRUCTURE 92.01 kb     24 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    HCP22 8q11.22 cytochrome c, somatic pseudogene FLJ25471 8q11.22 hypothetical protein FLJ25471 BTF3P1 8q11.22 basic transcription factor 3, pseudogene 1 LOC115294 8q11.22 similar to hypothetical protein FLJ10883 LOC389657 8 LOC389657 ST18 8q11.21 suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) LOC389658 8 similar to RPLK9433 RB1CC1 8p22-q11.23 RB1-inducible coiled-coil 1 GPR7 10q11.2-q21.1 G protein-coupled receptor 7 LOC392219 8 similar to ring finger protein 2 OPRK1 8q11.2 opioid receptor, kappa 1 LOC392220 8 similar to L21 ribosomal protein MAPK6PS1 8q11.23 similar to L21 ribosomal protein ATP6V1H 8p22-q22.3 ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H RGS20 8q11.22-q11.23 regulator of G-protein signalling 20 TCEA1 3p22-p21.3 transcription elongation factor A (SII), 1 LYPLA1 6pter-p25.1 lysophospholipase I TDGF5 8q11.23 teratocarcinoma-derived growth factor 5, pseudogene MRPL15 8q11.2-q13 mitochondrial ribosomal protein L15 LOC392221 8 similar to chromosome 7 open reading frame 17 protein; 16.7kD protein SOX17 8q11,22 SRY (sex determining region y)-box 17 LOC389659 8 hypothetical gene supported by BC028018 LOC392222 8 similar to RIKEN cDNA 0610038D11 LOC157708 8q11.23 similar to SPC18 protein RP1 8q11.21-q11.23 retinitis pigmentosa 1 (autosomal dominant) LOC392223 8 similar to ribosomal protein L7-like 1 LOC389660 8 similar to polycystin 1-like 3 LOC392224 8 similar to hypothetical protein 4932417K07
    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