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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DDB1 Gene

protein-coding   GIFtS: 63
GCID: GC11M061066

damage-specific DNA binding protein 1, 127kDa

(Previous name: damage-specific DNA binding protein 1 (127kD) )
 Explore 13 diseases affiliated with
DDB1 via our new
 Human Malady Compendium 
Biological research products
for DDB1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Damage-Specific DNA Binding Protein 1, 127kDa1 2     UV-DDB 12 3
XPE1 2     XPE-Binding Factor2 3
Xeroderma Pigmentosum Group E-Complementing Protein2 3     Damage-Specific DNA Binding Protein 1 (127kD)1
XAP-12 3     DDBA2
XAP12 3     UV-DDB12
XPE-BF2 3     XPCE2
DDB P127 Subunit2 3     DNA Damage-Binding Protein 12
DNA Damage-Binding Protein A2 3     DDBa3
HBV X-Associated Protein 12 3     XPCe3
UV-Damaged DNA-Binding Factor2 3     Damage-Specific DNA-Binding Protein 13
UV-Damaged DNA-Binding Protein 12 3     

External Ids:    HGNC: 27171   Entrez Gene: 16422   Ensembl: ENSG000001679867   OMIM: 6000455   UniProtKB: Q165313   

Export aliases for DDB1 gene to outside databases

Previous GC identifers: GC11P063499 GC11M062579 GC11M061317 GC11M060842 GC11M060823 GC11M057394


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DDB1:
The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex
while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and
binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with
xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by
photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the
defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular
dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated
in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4
(CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of
proteins. (provided by RefSeq, May 2012)

UniProtKB/Swiss-Prot: DDB1_HUMAN, Q16531
Function: Required for DNA repair. Binds to DDB2 to form the UV-damaged DNA-binding protein complex (the UV-DDB
complex). The UV-DDB complex may recognize UV-induced DNA damage and recruit proteins of the nucleotide excision
repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane
pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also appears to function as
a component of numerous distinct DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which mediate the
ubiquitination and subsequent proteasomal degradation of target proteins. The functional specificity of the DCX E3
ubiquitin-protein ligase complex is determined by the variable substrate recognition component recruited by DDB1.
DCX(DDB2) (also known as DDB1-CUL4-ROC1, CUL4-DDB-ROC1 and CUL4-DDB-RBX1) may ubiquitinate histone H2A, histone H3 and
histone H4 at sites of UV-induced DNA damage. The ubiquitination of histones may facilitate their removal from the
nucleosome and promote subsequent DNA repair. DCX(DDB2) also ubiquitinates XPC, which may enhance DNA-binding by XPC
and promote NER. DCX(DTL) plays a role in PCNA-dependent polyubiquitination of CDT1 and MDM2-dependent ubiquitination
of TP53 in response to radiation-induced DNA damage and during DNA replication. DCX(ERCC8) (the CSA complex) plays a
role in transcription-coupled repair (TCR). May also play a role in ubiquitination of CDKN1B/p27kip when associated
with CUL4 and SKP2

Gene Wiki entry for DDB1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DDB1 gene promoter:
         NF-1   STAT3   CUTL1   Tal-1beta   ITF-2   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DDB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DDB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DDB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q12-q13   Ensembl cytogenetic band:  11q12.2   HGNC cytogenetic band: 11q12-q13

DDB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DDB1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M061066:  view genomic region     (about GC identifiers)

Start:
61,066,919 bp from pter      End:
61,110,068 bp from pter
Size:
43,150 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DDB1_HUMAN, Q16531 (See protein sequence)
Recommended Name: DNA damage-binding protein 1  
Size: 1140 amino acids; 126968 Da
Subunit: Component of the UV-DDB complex which includes DDB1 and DDB2. The UV-DDB complex interacts with
monoubiquitinated histone H2A and binds to XPC via the DDB2 subunit. Component of numerous DCX (DDB1-CUL4-X-box) E3
ubiquitin-protein ligase complexes which consist of a core of DDB1, CUL4A or CUL4B and RBX1. DDB1 may recruit specific
substrate targeting subunits to the DCX complex. These substrate targeting subunits are generally known as DCAF (DDB1-
and CUL4-associated factor) or CDW (CUL4-DDB1-associated WD40-repeat) proteins. Interacts with AMBRA1, ATG16L1, BTRC,
DCAF1, DCAF17, DCAF16, DCAF15, DDA1, DET1, DTL, ERCC8, FBXW5, FBXW8, GRWD1, DCAF6, KATNB1, NLE1, NUP43, PAFAH1B1,
PHIP, PWP1, RBBP4, RBBP5, RBBP7, RFWD2, SNRNP40, VPRBP, WDR5, WDR5B, WDR12, DCAF4, DCAF5, DCAF11, WDR26, DCAF10,
WDR39, DCAF12, WDR42, DCAF8, WDR53, WDR59, WDR61, DCAF7, WSB1, WSB2 and WDTC1. DCX complexes may associate with the
COP9 signalosome, and this inhibits the E3 ubiquitin-protein ligase activity of the complex. Interacts with NF2, TSC1
and TSC2. Interacts with Simian virus 5 protein V and the HBV X protein. Interaction with SV5 protein V may prevent
the recruitment of DCAF proteins to DCX complexes. Interacts with EIF2C1 and EIF2C2. Associates with the E3 ligase
complex containing DYRK2, EDD/UBR5, DDB1 and VPRBP proteins (EDVP complex). Interacts directly with DYRK2
Subcellular location: Cytoplasm. Nucleus. Note=Primarily cytoplasmic. Translocates to the nucleus following UV
irradiation and subsequently accumulates at sites of DNA damage
6/27 PDB 3D structures from and Proteopedia for DDB1 (see all 27):
2B5L (3D)        2B5M (3D)        2B5N (3D)        2HYE (3D)        3E0C (3D)        3EI1 (3D)    
Secondary accessions: A6NG77 B2R648 O15176 Q13289 Q58F96

Explore the universe of human proteins at neXtProt for DDB1: NX_Q16531

Post-translational modifications:

  • Phosphorylated by ABL1 (By similarity)1
  • Ubiquitinated by CUL4A. Subsequently degraded by ubiquitin-dependent proteolysis1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16531

  • DDB1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001914.3  
    ENSEMBL proteins: 
     ENSP00000301764   ENSP00000399813   ENSP00000440269   ENSP00000441522   ENSP00000439787  
     ENSP00000445844   ENSP00000444650   ENSP00000442732   ENSP00000437713   ENSP00000445563  
     ENSP00000446044   ENSP00000442660   ENSP00000445554   ENSP00000441825   ENSP00000444105  
     ENSP00000440660   ENSP00000388705  
    Reactome Protein details: Q16531
    Human Recombinant Protein Products: 
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DDB1

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA--
    GO:0031464Cul4A-RING ubiquitin ligase complex IDA--
    GO:0031465Cul4B-RING ubiquitin ligase complex IDA18794347


    DDB1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DDB1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR004871 Cleavage/polyA-sp_fac_asu_C
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q16531

    ProtoNet protein and cluster: Q16531

    1 Blocks protein family: IPB004871 CPSF A subunit C-terminal

    UniProtKB/Swiss-Prot: DDB1_HUMAN, Q16531
    Similarity: Belongs to the DDB1 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: DDB1_HUMAN, Q16531
    Function: Required for DNA repair. Binds to DDB2 to form the UV-damaged DNA-binding protein complex (the UV-DDB
    complex). The UV-DDB complex may recognize UV-induced DNA damage and recruit proteins of the nucleotide excision
    repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane
    pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also appears to function as
    a component of numerous distinct DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which mediate the
    ubiquitination and subsequent proteasomal degradation of target proteins. The functional specificity of the DCX E3
    ubiquitin-protein ligase complex is determined by the variable substrate recognition component recruited by DDB1.
    DCX(DDB2) (also known as DDB1-CUL4-ROC1, CUL4-DDB-ROC1 and CUL4-DDB-RBX1) may ubiquitinate histone H2A, histone H3 and
    histone H4 at sites of UV-induced DNA damage. The ubiquitination of histones may facilitate their removal from the
    nucleosome and promote subsequent DNA repair. DCX(DDB2) also ubiquitinates XPC, which may enhance DNA-binding by XPC
    and promote NER. DCX(DTL) plays a role in PCNA-dependent polyubiquitination of CDT1 and MDM2-dependent ubiquitination
    of TP53 in response to radiation-induced DNA damage and during DNA replication. DCX(ERCC8) (the CSA complex) plays a
    role in transcription-coupled repair (TCR). May also play a role in ubiquitination of CDKN1B/p27kip when associated
    with CUL4 and SKP2

         Genatlas biochemistry entry for DDB1:
    damage specific DNA binding protein 1,p127 subunit,absent from cell strains from a minority of individuals with
    XP-E,possibly involved in nucleotide excision repair

    miRNA
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    hsa-miR-138-1* hsa-miR-548a-3p hsa-miR-548e hsa-miR-323-5p hsa-miR-548c-3p
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    Inhib. RNA
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding TAS8798680
    GO:0003684damaged DNA binding TAS8407967
    GO:0005515protein binding IPI--


    DDB1 for ontologies           About GeneDecksing


    8 GenomeRNAi human phenotypes for DDB1:
     Decreased cell number, increas  Decreased homologous recombina  Decreased nuclei size in G2M  Decreased number of cells in m 
     Decreased viability of wild-ty  Increased circadian rhythm amp  Increased gamma-H2AX phosphory  S arrest 

    Animal Models:
         Mouse knock-out Ddb1tm1.1Spg for DDB1
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ddb1):
     cardiovascular system  cellular  mortality/aging  nervous system  vision/eye 

    DDB1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)1.00
    Dual incision reaction in GG-NER0.61
    Nucleotide excision repair0.70
    Formation of incision complex in GG-NER0.61
    2Nucleotide Excision Repair
    Nucleotide Excision Repair1.00
    DNA Repair0.46
    3Protein Stability
    Protein Stability1.00
    4DNA Damage
    DNA Damage1.00
    5Antigen processing: Ubiquitination & Proteasome degradation
    Ubiquitin mediated proteolysis0.36

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for DDB1
        DNA Damage
    Protein Stability

    5        Reactome Pathways for DDB1
        DNA Repair
    Global Genomic NER (GG-NER)
    Nucleotide Excision Repair
    Formation of incision complex in GG-NER
    Dual incision reaction in GG-NER


    2         Kegg Pathways  (Kegg details for DDB1):
        Nucleotide excision repair
    Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: DDB1_HUMAN, Q16531
    Pathway: Protein modification; protein ubiquitination


    DDB1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DDB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/808 Interacting proteins for DDB1 (Q165311, 2, 3 ENSP000003017644) via UniProtKB, MINT, STRING, and/or I2D (see all 808)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000075cell cycle checkpoint IMP17088560
    GO:0000718nucleotide-excision repair, DNA damage removal TAS--
    GO:0006281DNA repair TAS--
    GO:0006289nucleotide-excision repair TAS--
    GO:0016055Wnt receptor signaling pathway IEA--


    DDB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DDB1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for DDB1

    1 HMDB Compound for DDB1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Pyrimidine1,3-Diazabenzene (see all 10)25247-63-6--
    3 Novoseek chemical compound relationships for DDB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cisplatin 18.8 5 2333286 (3), 2201976 (1), 8252487 (1)
    zinc 0 2 9740790 (1)
    cysteine 0 3 16112766 (1), 9740790 (1)

    Search CenterWatch for drugs/clinical trials and news about DDB1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DDB1 gene: 
    NM_001923.4  

    Unigene Cluster for DDB1:

    Damage-specific DNA binding protein 1, 127kDa
    Hs.290758  [show with all ESTs]
    Unigene Representative Sequence: NM_001923
    18/26 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000301764(uc001nrc.4 uc010rle.1 uc001nrd.2 uc009ynl.1)
    ENST00000451943 ENST00000545894 ENST00000540166(uc010rlf.1) ENST00000538470
    ENST00000539332 ENST00000543658 ENST00000535147 ENST00000537877 ENST00000414411
    ENST00000535967 ENST00000539739 ENST00000540784 ENST00000538280 ENST00000545930(uc010rlg.1)
    ENST00000535174 ENST00000539712 ENST00000541513

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    Additional cDNA sequence: 

    AJ002955.1 AK294341.1 AK294493.1 AK302924.1 AK303032.1 AK311112.1 AK311476.1 AK312436.1 
    BC011686.2 BC021044.1 BC032080.1 BC050530.1 BC051764.2 L40326.1 U18299.1 U32986.1 

    24/45 DOTS entries (see all 45):

    DT.100887611  DT.100887618  DT.92463405  DT.97808133  DT.87017915  DT.95139100  DT.95082821  DT.95244963 
    DT.100887634  DT.120694269  DT.100887610  DT.87017916  DT.120694373  DT.100887613  DT.120694233  DT.99963513 
    DT.99999519  DT.120694209  DT.120694240  DT.120694248  DT.450673  DT.95138964  DT.100887633  DT.100887636 

    24/1044 AceView cDNA sequences (see all 1044):

    AU140653 AI273870 BE781135 CD613383 AL572720 AA291628 AI251469 AI924125 
    BE695060 BQ772669 AA708351 BM456004 BX283675 AW028839 BM666103 BU848704 
    BU688954 BQ639260 BQ330998 AI969089 BQ637443 R53165 AW081952 AA298052 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for DDB1 (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:                    -           -                                                                                                                           
    SP2:                                -                                                                                                                           
    SP3:                                                                                                                                -     -     -     -     -   
    SP4:        -           -           -                                                                                                                           
    SP5:                    -           -     -     -                                                                                                               

    ExUns: 23 ^ 24 ^ 25a · 25b ^ 26a · 26b · 26c · 26d ^ 27a · 27b · 27c · 27d · 27e ^ 28 ^ 29a · 29b
    SP1:              -                                   -                                             
    SP2:                                                                                                
    SP3:  -     -     -     -     -                       -                                             
    SP4:                                                                                                
    SP5:                                                                                                


    ECgene alternative splicing isoforms for DDB1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DDB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGTAGCCTGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See DDB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DDB1

    SOURCE GeneReport for Unigene cluster: Hs.290758
        SABiosciences Expression via Pathway-Focused PCR Arrays including DDB1: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat
              Ubiquitin Ligases in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DDB1 gene from 8/33 species (see all 33)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DDB11 damage-specific DNA binding protein 1, 127kDa 83.77(n)
    97.11(a)
      374050  NM_204216.2  NP_989547.1 
    lizard
    (Anolis carolinensis)
    Reptilia DDB16
    --
    96(a)
    1 ↔ 1
    GL343235.1(749901-783107)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC684762 hypothetical protein MGC68476 78.85(n)    BC061946.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc638402 hypothetical protein MGC63840 78.83(n)   393599  BC056837.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta DDB13
    pic1
    nucleotide-excision repair damaged DNA
    binding3
    piccolo1
    60(a)3
    60.53(n)1
    61.59(a)1
      87D113
    416111  NM_142000.21  NP_650257.11 
    worm
    (Caenorhabditis elegans)
    Secernentea M18.53 DNA repair protein like 37(a)   IV(12115373-12121295)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DDB1A1 DNA damage-binding protein 1a 55.85(n)
    55.98(a)
      825890  NM_116781.2  NP_192451.1 
    rice
    (Oryza sativa)
    Liliopsida Os.4192 Oryza sativa (japonica cultivar-group) OsUV-DDB mRNA more 73.64(n)    AK065508.1 


    ENSEMBL Gene Tree for DDB1 (if available)
    TreeFam Gene Tree for DDB1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DDB1 gene
    SF3B32  

    DDB1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/688 NCBI SNPs in DDB1 are shown (see all 688    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs785584481,2
    F,--57394345(+) GGGCAT/GGTGGC 1 -- int11Minor allele frequency- G:0.06WA 118
    rs287569681,2
    C,--57394529(-) TCACTG/AGTCTT 1 -- int15Minor allele frequency- A:0.01NS 172
    rs112306601,2
    C,F,A,H,--57394549(+) CCCATC/AATCCT 1 -- int120Minor allele frequency- A:0.10NS EA NA WA 1736
    rs287203671,2
    C,--57394693(-) TTACTG/TCGAAC 1 -- int16Minor allele frequency- T:0.02NS WA 288
    rs287203661,2
    C,--57395010(-) GGAGGG/ATTTCA 1 -- ut31 ese36Minor allele frequency- A:0.03NS WA 306
    rs11328271,2
    F--57395023(-) GGGAAG/AAGGGT 1 -- ut31 ese3 trp31Minor allele frequency- A:0.02MN 184
    rs287203621,2
    C,F,H--57395555(-) AGCCCC/TGCCCA 1 -- int17Minor allele frequency- T:0.00NS NA 414
    rs287203601,2
    C,--57395841(-) AAAGGT/AGGGAG 1 -- int15Minor allele frequency- A:0.00NS 180
    rs287203581,2
    F--57395946(-) GGCTCA/G/TTGGGT 1 -- int15NS 182
    rs287203571,2
    C,--57396446(-) CCCCAA/GTTGAG 1 -- int15Minor allele frequency- G:0.01NS 184

    HapMap Linkage Disequilibrium report for DDB1 (61066919 - 61110068 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for DDB1
         3 CNVs: 4748 85813 3854

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    DDB1 for disorders           About GeneDecksing

    OMIM gene information: 600045    OMIM disorders: --

    13 diseases for DDB1:    About MalaCards
    xeroderma pigmentosum    xeroderma pigmentosum, group e, subtype 2    photosensitive trichthiodystrophy    vitelliform macular dystrophy
    anaplastic large cell lymphoma    macular dystrophy    carcinoma    cockayne syndrome
    hepatitis b    adrenocortical carcinoma    liver cancer    hepatitis
    immunodeficiency

    3 diseases from the University of Copenhagen DISEASES database for DDB1:
    Xeroderma pigmentosum     Cockayne syndrome     Photosensitive trichothiodystrophy

    7 Novoseek disease relationships for DDB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xeroderma pigmentosum, complementation group e 95.4 5 16260596 (1), 7523888 (1), 8538642 (1), 19382146 (1)
    xeroderma pigmentosum 87 8 9632823 (1), 7523888 (1), 12181326 (1), 19181111 (1) (see all 6)
    macular dystrophy, vitelliform 63.9 1 9781049 (1)
    parainfluenza 44.8 2 9740790 (1)
    hepatitis b 22.6 5 9020796 (2), 9740790 (1)
    cancer 18.5 1 16260596 (1)
    tumors 7.61 6 2333286 (2), 2201976 (1), 18324346 (1)


    Export disorders for DDB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DDB1 gene, integrated from 9 sources (see all 249):
    (articles sorted by number of sources associating them with DDB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal localization and cDNA cloning of the genes (DDB1 and DDB2) for the p127 and p48 subunits of a human damage-specific DNA binding protein. (PubMed id 8530102)1, 2, 3 Dualan R.... Linn S. (1995)
    2. DDB1 maintains genome integrity through regulation of Cdt1. (PubMed id 16940174)1, 2, 9 Lovejoy C.A....Cortez D. (2006)
    3. Targeted ubiquitination of CDT1 by the DDB1-CUL4A-ROC1 ligase in response to DNA damage. (PubMed id 15448697)1, 2, 9 Hu J.... Xiong Y. (2004)
    4. Isolation of a cDNA encoding a UV-damaged DNA binding factor defective in xeroderma pigmentosum group E cells. (PubMed id 8538642)1, 2, 9 Hwang B.J.... Chu G. (1996)
    5. Human immunodeficiency virus type 1 Vpr-binding protein VprBP, a WD40 protein associated with the DDB1-CUL4 E3 ubiquitin ligase, is essential for DNA replication and embryonic development. (PubMed id 18606781)1, 2, 9 McCall C.M.... Xiong Y. (2008)
    6. Xeroderma pigmentosum complementation group E protein (XPE/DDB2): purification of various complexes of XPE and analyses of their damaged DNA binding and putative DNA repair properties. (PubMed id 16260596)1, 2, 9 Kulaksiz G.... Sancar A. (2005)
    7. Hepatitis B virus X protein interacts with a probable cellular DNA repair protein. (PubMed id 7815490)1, 2, 9 Lee T.H.... Butel J.S. (1995)
    8. WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase. (PubMed id 18381890)1, 2, 9 Hu J....Xiong Y. (2008)
    9. The cullin 4B-based UV-damaged DNA-binding protein ligase binds to UV-damaged chromatin and ubiquitinates histone H2A. (PubMed id 18593899)1, 2, 9 Guerrero-Santoro J.... Rapic-Otrin V. (2008)
    10. A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1. (PubMed id 16949367)1, 2, 9 Jin J.... Walter J.C. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1642 HGNC: 2717 AceView: DDB1 Ensembl:ENSG00000167986 euGenes: HUgn1642
    ECgene: DDB1 Kegg: 1642 H-InvDB: DDB1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DDB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DDB1 Genetics and Cytogenetics in Oncology and Haematology
    Allelic variations of the XP geneshttp://www.xpmutations.org/
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ddb1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DDB1 gene:
    Search GeneIP for patents involving DDB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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