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FLASH GENE
Symbol DDB1 contributors: mct/pgu - updated : 11-06-2013
HGNC name damage-specific DNA binding protein 1, 127kDa
HGNC id 2717
Location 11q12.2      Physical location : 61.066.919 - 61.100.666
Synonym name DDB p127 subunit
Synonym symbol(s) DDBA, XAP1, XPCE, XPE-BF, UV-DDB1, XPE
DNA
TYPE functioning gene
STRUCTURE 33.75 kb     27 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map see CD6 ,VMD2
Physical map
MGC39681 11q12.2 hypothetical protein MGC39681 MS4A8B 11q12.1 membrane-spanning 4-domains, subfamily A, member 8B MGC35295 11q12.2 hypothetical protein MGC35295 LOC341116 11q12.2 similar to Membrane-spanning 4-domains subfamily A member 10 MGC2574 11q12.2 hypothetical protein MGC2574 GPR44 11q12-q13.3 G protein-coupled receptor 44 LOC255714 11q12.2 similar to ZP1 precursor NMP200 11q12.2 nuclear matrix protein NMP200 related to splicing factor PRP19 MGC5508 11q12.2 hypothetical protein MGC5508 GBP 11q12.2 likely ortholog of rat GRP78-binding protein SLC15A3 11q13.1 solute carrier family 15, member 3 CD6 11q13 CD6 antigen CD5 11q12.2 CD5 antigen (p56-62) FLJ20847 11q12.3 hypothetical protein FLJ20847 PGA5 11q13 pepsinogen 5, group I (pepsinogen A) FLJ32009 11q12.3 hypothetical protein FLJ32009 DDB1 11q12-q13.1 damage-specific DNA binding protein 1, 127kDa DKFZP586B1621 11q12.3 DKFZP586B1621 protein MGC20446 11q12.3 hypothetical protein MGC20446 HSPC196 11q12.3 hypothetical protein HSPC196 MGC:13379 11q13.1 HSPC244 FLJ12529 11q12.3 pre-mRNA cleavage factor I, 59 kDa subunit FLJ20487 11q12.3 hypothetical protein FLJ20487 FLJ32771 11q12.3 IIIG9 protein SYT7 11q12-q13.1 synaptotagmin VII LOC390205 11 similar to leucine-rich repeat-containing 10; leucine-rich repeat protein; leucine-rich containing 10 RPLP0P2 11cen-q12 ribosomal protein, large, P0 pseudogene 2 C11orf11 11q13.1 chromosome 11 open reading frame 11 C11orf9 11q12-q13.1 chromosome 11 open reading frame 9 C11orf10 11q12-q13.1 chromosome 11 open reading frame 10 FEN1 11q13.1 flap structure-specific endonuclease 1 FADS1 11q12.2-q13.1 fatty acid desaturase 1 FADS2 11q12-q13.1 fatty acid desaturase 2 FADS3 11q12-q13.1 fatty acid desaturase 3 RAB3IL1 11q12-q13.1 RAB3A interacting protein (rabin3)-like 1 VMD2 11q12-q13.1 vitelliform macular dystrophy (Best disease, bestrophin)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
27 - 4355 - 1140 - 1998 9781049
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly Homo sapiens
Reproductivefemale systemplacenta  highly
 male systemtestis  moderately
Respiratoryrespiratory tracttrachea   
Visualeye    
cell lineage
cell lines in hepatocellular carcinoma cells
fluid/secretion highly in lymph
at STAGE
physiological period fetal, pregnancy
Text predominantly in umbilical cord, and in developing epidermis
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • BPA and BPC domains
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to rattus Ddb1 (98.7 pc)
    homolog to murine Ddb1 (99.4 pc)
    Homologene
    FAMILY
  • DDB1 family
  • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • playing a role in DNA pyrimidine-dimer repair, global genomic nucleotide excision repair (NER) and transcription-coupled repair (TCR) of oxidative lesions
  • required for histone H3 and histone H4 ubiquitination in response to ultraviolet and may be important for subsequent DNA repair
  • playing an important role in development by controlling levels of cell cycle regulators and thereby maintaining genomic stability
  • may functionally regulate mitotic exit by modulating APC/CDH1 activity
  • conserved protein component of the damaged DNA binding protein complex (DDB) that recognizes UV-induced DNA lesions and initiates the nucleotide excision repair process
  • contributes to the activation of DNA repair mechanisms and could be a key factor in regulating the cell cycle in response to UV-induced DNA damage
  • CELLULAR PROCESS cell life, cell death/apoptosis
    nucleotide, repair, nucleotide excision repair
    protein, ubiquitin dependent proteolysis
    PHYSIOLOGICAL PROCESS
    text
  • modulator of UV-induced apoptosis
  • PATHWAY
    metabolism
    signaling
  • DDB1-CUL4A and MLL1 complexes constitute a novel pathway that mediates CDKN2A activation during oncogenic checkpoint response and is repressed by the polycomb repression complexes during normal growth of young cells
  • a component
  • DDB is a heterodimeric complex comprising DDB1 and DDB2 subunits and binds to a wide spectrum of DNA lesions
  • DDB1-DDB2 complex serves in the initial detection of UV lesions
  • component of the RBX1-CUL4-DDB2 ubiquitin ligase machinery
  • FBXW5/DDB1/CUL4A/RBX1 may function to regulate the homeostasis of TSC complexes instead of mediating a specific cellular growth condition
  • CRL4 is a multisubunit protein complex, comprising cullin4A (CUL4A), RING H2 finger protein (RBX1), and DNA damage-binding protein 1 (DDB1)
  • INTERACTION
    DNA binding tightly to damaged DNA after UV-irradiation
    RNA
    small molecule
    protein
  • interacting with Simian virus 5 protein V
  • interacting with HBV protein X
  • interaction with XPA (the physical interaction between DDB1 and 2 and XPA plays an important role in the DDB-mediated NER reaction)
  • capable of binding the WD40 domains of CDH1, but not of CDC20, through its BPA and BPC domains
  • DDB1 interacts with the INO80 complex providing a mechanistic link between chromatin remodeling activity and the initiating step of nucleotide excision repair
  • DYRK2-associated DDB1-UBR5-VPRBP E3 ligase inhibits telomerase by TERT degradation
  • SETMAR decreases CHEK1 interaction with DDB1, and decreases CHEK1 ubiquitination
  • cell & other
    REGULATION
    Other proteosomal degradation after UV-irradiation
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    prevents hepatocytes to replicate DNA, induces compensatory proliferation of DDB1-expressing hepatocytes, and eventually leads to development of hepatocellular carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS