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FLASH GENE
Symbol RBL1 contributors: mct/npt - updated : 15-05-2014
HGNC name retinoblastoma-like 1 (p107)
HGNC id 9893
Location 20q11.23      Physical location : 35.626.178 - 35.724.410
Synonym name
  • 107 kDa retinoblastoma-associated protein
  • cellular protein 107
  • Synonym symbol(s) RBRP, TP107, P107, PRB1, cp107, MGC40006
    DNA
    TYPE functioning gene
    STRUCTURE 98.23 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    C20orf53 20 chromosome 20 open reading frame 53 C20orf104 20q11.22-q11.23 chromosome 20 open reading frame 104 SCAND1 20q11.1-q11.23 SCAN domain containing 1 C20orf152 20q11.23 chromosome 20 open reading frame 152 HMG4L2 20q11.23 high-mobility group (nonhistone chromosomal) protein 4-like 2 EPB41L1 20q11.2-q12 erythrocyte membrane protein band 4.1-like 1 C20orf4 20pter-q12 chromosome 20 open reading frame 4 DAP4 20q11.23 disks large-associated protein 4 MYL9 20q11.22 myosin, light polypeptide 9, regulatory TGIF2 20q11.2-q12 TGFB-induced factor 2 (TALE family homeobox) C20orf24 20q11.23 chromosome 20 open reading frame 24 SLA2 20q11.22 Src-like-adaptor 2 NDRG3 20q11.21-q11.23 NDRG family member 3 C20orf172 20q11.23 chromosome 20 open reading frame 172 KIAA0889 20q11.23 KIAA0889 protein LOC343574 20q11.23 similar to dJ132F21.2 (Contains a novel protein similar to the L82E from Drosophila) SAMHD1 20q11.22 SAM domain and HD domain 1 RBL1 20q11.21 retinoblastoma-like 1 (p107) RPS3AP3 20q11.2 ribosomal protein S3A pseudogene 3 C20orf132 20q11.22 chromosome 20 open reading frame 132 RPN2 20q11.22-q11.23 ribophorin II GHRH 20q11.21 growth hormone releasing hormone MANBAL 20q11.23-q12 mannosidase, beta A, lysosomal-like SRC 20q11.21 v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) RPL7AL4 20q11.2 ribosomal protein L7A-like 4 BLCAP 20q11.2-q12 bladder cancer associated protein NNAT 20q11.2-q12 neuronatin PPIAP3 20q11.23 peptidylprolyl isomerase A (cyclophilin A) pseudogene 3 GLRXP 20q11.2 glutaredoxin (thioltransferase) pseudogene CTNNBL1 20q11.23-q12 catenin, beta like 1 C20orf102 20q11.23 chromosome 20 open reading frame 102 KIAA0406 20q11.21-q12 Homo sapiens KIAA0406 gene product (KIAA0406), mRNA. C20orf77 20q11.21-q12 chromosome 20 open reading frame 77 TGM2 20q11.2 transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) KIAA1755 20q12 KIAA1755 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 4270 121 1068 - 2008 18418057
    21 - 3371 - 1014 - 2008 18418057
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • phosphoprotein with the T/E1A-binding (pocket) domain
  • conjugated PhosphoP
    HOMOLOGY
    intraspecies homolog to retinoblastoma
    Homologene
    FAMILY
  • retinoblastoma protein (RB) family
  • CATEGORY regulatory , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • involved in cell cycle regulation
  • function by repressing E2F transcription factor activity to limit the expression of genes required for cell cycle progression (Stengel 2009)
  • repress E2F target gene expression through complexing with E2F at gene promoters in a manner similar to RBL1/RBL2 and association is modulated by phosphorylation during cell cycle progression (Stengel 2009
  • required for initiation of accelerated cellular senescence in the absence of RB1 and introduces the concept that RBL2 may be required to prevent the onset of terminal growth arrest in unstimulated prostate cancer cells lacking a functional RB1 (Lehmann 2008)
  • have well-defined roles in regulating entry into and exit from the cell cycle and also have cell cycle–independent roles in facilitating differentiation (Berman 2009)
  • with RB1 act together to control the proliferation of many embryonic tissues (Berman 2009)
  • involved in regulation of RB1 expression (Burkhart 2010)
  • overlapping role for RB1 and RBL1 in cartilage development, endochondral ossification and enchondroma formation that reflects their coordination of cell-cycle exit at appropriate developmental stages
  • CELLULAR PROCESS cell cycle
    cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    text potentially controlling trophoblast proliferation
    PATHWAY
    metabolism
    signaling
    a component
  • LIN9 and the pocket proteins RBL1 and RBL2 are members of the DREAM complex that in G0 represses cell cycle genes
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • transcription factor E2F-4 and with cyclin E/A-CDK2 complexes
  • interacting with DGKZ (potently stimulate DGKZ activity, and DGKZ may act as a downstream effector of RB1 to regulate nuclear levels of diacylglycerol and phosphatidic acid) (Los 2006)
  • bind specifically to the repressive E2Fs, E2F4 and E2F5 (Berman 2009)
  • structurally and functionally related to RB and interacting with E2F transcription factors (Burkhart 2010)
  • PPP2R2A modulate the phosphorylation status of the retinoblastoma-related protein RBL1 and its activation
  • FGF1 induces maturation and cell cycle exit in chondrocytes, triggers rapid accumulation of RBL1-PPP2R2A complexes coinciding with RBL1 dephosphorylation
  • MAGEA11 interaction with RBL1 was associated with transcriptional repression in cells with low MAGEA11 and transcriptional activation in cells with higher MAGEA11
  • cell & other
    REGULATION
    Other dephosphorylation of RBL1 in response to FGF1 treatment results in early recruitment of RBL1 to the MYC promoter, an FGF1/E2F-regulated gene
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    in a B cell lymphoma cell lines
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Rb1/RBL1 double-mutant embryos (DKOs)exhibit novel phenotypes, including increased proliferation of blood vessel endothelial cells, and heart defects, including double-outlet right ventricle (DORV) (Berman 2009)