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DDB1 (damage specific DNA binding protein 1)

Identity

Alias_namesdamage-specific DNA binding protein 1 (127kD)
Other aliasDDBA
UV-DDB1
XAP1
XPCE
XPE
XPE-BF
HGNC (Hugo) DDB1
LocusID (NCBI) 1642
Atlas_Id 40278
Location 11q12.2  [Link to chromosome band 11q12]
Location_base_pair Starts at 61299447 and ends at 61333212 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DDB1 (11q12.2) / ADCY2 (5p15.31)DDB1 (11q12.2) / DDB1 (11q12.2)DDB1 (11q12.2) / FOXP1 (3p13)
DDB1 (11q12.2) / MALAT1 (11q13.1)DDB1 (11q12.2) / PPM1M (3p21.2)DDB1 (11q12.2) / SIGMAR1 (9p13.3)
DDB1 (11q12.2) / TMEM258 (11q12.2)DDB1 (11q12.2) / ZNF408 (11p11.2)PRPF19 (11q12.2) / DDB1 (11q12.2)
RASSF4 (10q11.21) / DDB1 (11q12.2)DDB1 11q12.2 C11orf10PRPF19 11q12.2 / DDB1 11q12.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(11;11)(q12;q12) DDB1/TMEM258
t(11;11)(q12;q12) PRPF19/DDB1

External links

Nomenclature
HGNC (Hugo)DDB1   2717
LRG (Locus Reference Genomic)LRG_474
Cards
Entrez_Gene (NCBI)DDB1  1642  damage specific DNA binding protein 1
AliasesDDBA; UV-DDB1; XAP1; XPCE; 
XPE; XPE-BF
GeneCards (Weizmann)DDB1
Ensembl hg19 (Hinxton)ENSG00000167986 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167986 [Gene_View]  chr11:61299447-61333212 [Contig_View]  DDB1 [Vega]
ICGC DataPortalENSG00000167986
TCGA cBioPortalDDB1
AceView (NCBI)DDB1
Genatlas (Paris)DDB1
WikiGenes1642
SOURCE (Princeton)DDB1
Genetics Home Reference (NIH)DDB1
Genomic and cartography
GoldenPath hg38 (UCSC)DDB1  -     chr11:61299447-61333212 -  11q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DDB1  -     11q12.2   [Description]    (hg19-Feb_2009)
EnsemblDDB1 - 11q12.2 [CytoView hg19]  DDB1 - 11q12.2 [CytoView hg38]
Mapping of homologs : NCBIDDB1 [Mapview hg19]  DDB1 [Mapview hg38]
OMIM600045   
Gene and transcription
Genbank (Entrez)AA665872 AJ002955 AK294341 AK294493 AK299650
RefSeq transcript (Entrez)NM_001923
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DDB1
Cluster EST : UnigeneHs.290758 [ NCBI ]
CGAP (NCI)Hs.290758
Alternative Splicing GalleryENSG00000167986
Gene ExpressionDDB1 [ NCBI-GEO ]   DDB1 [ EBI - ARRAY_EXPRESS ]   DDB1 [ SEEK ]   DDB1 [ MEM ]
Gene Expression Viewer (FireBrowse)DDB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1642
GTEX Portal (Tissue expression)DDB1
Human Protein AtlasENSG00000167986-DDB1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16531   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16531  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16531
Splice isoforms : SwissVarQ16531
PhosPhoSitePlusQ16531
Domains : Interpro (EBI)Cleavage/polyA-sp_fac_asu_C    DDB1    WD40/YVTN_repeat-like_dom    WD40_repeat_dom   
Domain families : Pfam (Sanger)CPSF_A (PF03178)   
Domain families : Pfam (NCBI)pfam03178   
Conserved Domain (NCBI)DDB1
DMDM Disease mutations1642
Blocks (Seattle)DDB1
PDB (SRS)2B5L    2B5M    2B5N    2HYE    3E0C    3EI1    3EI2    3EI3    3EI4    3I7H    3I7K    3I7L    3I7N    3I7O    3I7P    3I89    3I8C    3I8E    4A08    4A09    4A0A    4A0B    4A0K    4A0L    4A11    4CI1    4CI2    4CI3    4E54    4E5Z    4TZ4    5FQD    5HXB    5JK7   
PDB (PDBSum)2B5L    2B5M    2B5N    2HYE    3E0C    3EI1    3EI2    3EI3    3EI4    3I7H    3I7K    3I7L    3I7N    3I7O    3I7P    3I89    3I8C    3I8E    4A08    4A09    4A0A    4A0B    4A0K    4A0L    4A11    4CI1    4CI2    4CI3    4E54    4E5Z    4TZ4    5FQD    5HXB    5JK7   
PDB (IMB)2B5L    2B5M    2B5N    2HYE    3E0C    3EI1    3EI2    3EI3    3EI4    3I7H    3I7K    3I7L    3I7N    3I7O    3I7P    3I89    3I8C    3I8E    4A08    4A09    4A0A    4A0B    4A0K    4A0L    4A11    4CI1    4CI2    4CI3    4E54    4E5Z    4TZ4    5FQD    5HXB    5JK7   
PDB (RSDB)2B5L    2B5M    2B5N    2HYE    3E0C    3EI1    3EI2    3EI3    3EI4    3I7H    3I7K    3I7L    3I7N    3I7O    3I7P    3I89    3I8C    3I8E    4A08    4A09    4A0A    4A0B    4A0K    4A0L    4A11    4CI1    4CI2    4CI3    4E54    4E5Z    4TZ4    5FQD    5HXB    5JK7   
Structural Biology KnowledgeBase2B5L    2B5M    2B5N    2HYE    3E0C    3EI1    3EI2    3EI3    3EI4    3I7H    3I7K    3I7L    3I7N    3I7O    3I7P    3I89    3I8C    3I8E    4A08    4A09    4A0A    4A0B    4A0K    4A0L    4A11    4CI1    4CI2    4CI3    4E54    4E5Z    4TZ4    5FQD    5HXB    5JK7   
SCOP (Structural Classification of Proteins)2B5L    2B5M    2B5N    2HYE    3E0C    3EI1    3EI2    3EI3    3EI4    3I7H    3I7K    3I7L    3I7N    3I7O    3I7P    3I89    3I8C    3I8E    4A08    4A09    4A0A    4A0B    4A0K    4A0L    4A11    4CI1    4CI2    4CI3    4E54    4E5Z    4TZ4    5FQD    5HXB    5JK7   
CATH (Classification of proteins structures)2B5L    2B5M    2B5N    2HYE    3E0C    3EI1    3EI2    3EI3    3EI4    3I7H    3I7K    3I7L    3I7N    3I7O    3I7P    3I89    3I8C    3I8E    4A08    4A09    4A0A    4A0B    4A0K    4A0L    4A11    4CI1    4CI2    4CI3    4E54    4E5Z    4TZ4    5FQD    5HXB    5JK7   
SuperfamilyQ16531
Human Protein Atlas [tissue]ENSG00000167986-DDB1 [tissue]
Peptide AtlasQ16531
HPRD10952
IPIIPI00293464   IPI00909177   IPI00909008   IPI00909251   IPI00922069   IPI00942006   IPI00977083   IPI01010454   IPI01014884   IPI01015574   IPI01013521   IPI01013765   IPI01014222   IPI01011208   IPI01011629   IPI01011929   IPI01012348   
Protein Interaction databases
DIP (DOE-UCLA)Q16531
IntAct (EBI)Q16531
FunCoupENSG00000167986
BioGRIDDDB1
STRING (EMBL)DDB1
ZODIACDDB1
Ontologies - Pathways
QuickGOQ16531
Ontology : AmiGOnucleotide-excision repair, DNA damage recognition  nucleotide-excision repair, DNA duplex unwinding  nuclear chromosome, telomeric region  DNA binding  damaged DNA binding  protein binding  extracellular space  nucleus  nucleoplasm  nucleoplasm  cytoplasm  DNA repair  transcription-coupled nucleotide-excision repair  nucleotide-excision repair  nucleotide-excision repair, preincision complex stabilization  nucleotide-excision repair, preincision complex assembly  nucleotide-excision repair, DNA incision, 3'-to lesion  nucleotide-excision repair, DNA incision, 5'-to lesion  cellular response to DNA damage stimulus  proteasomal protein catabolic process  viral process  Wnt signaling pathway  protein ubiquitination  protein binding, bridging  Cul4A-RING E3 ubiquitin ligase complex  Cul4B-RING E3 ubiquitin ligase complex  protein complex binding  nucleotide-excision repair, DNA incision  histone H2A monoubiquitination  DNA damage response, detection of DNA damage  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  negative regulation of apoptotic process  proteasome-mediated ubiquitin-dependent protein catabolic process  protein complex  post-translational protein modification  positive regulation of viral genome replication  positive regulation of protein catabolic process  positive regulation by virus of viral protein levels in host cell  interaction with symbiont  extracellular exosome  global genome nucleotide-excision repair  UV-damage excision repair  WD40-repeat domain binding  Cul4-RING E3 ubiquitin ligase complex  Cul4-RING E3 ubiquitin ligase complex  cullin family protein binding  regulation of mitotic cell cycle phase transition  positive regulation of viral release from host cell  
Ontology : EGO-EBInucleotide-excision repair, DNA damage recognition  nucleotide-excision repair, DNA duplex unwinding  nuclear chromosome, telomeric region  DNA binding  damaged DNA binding  protein binding  extracellular space  nucleus  nucleoplasm  nucleoplasm  cytoplasm  DNA repair  transcription-coupled nucleotide-excision repair  nucleotide-excision repair  nucleotide-excision repair, preincision complex stabilization  nucleotide-excision repair, preincision complex assembly  nucleotide-excision repair, DNA incision, 3'-to lesion  nucleotide-excision repair, DNA incision, 5'-to lesion  cellular response to DNA damage stimulus  proteasomal protein catabolic process  viral process  Wnt signaling pathway  protein ubiquitination  protein binding, bridging  Cul4A-RING E3 ubiquitin ligase complex  Cul4B-RING E3 ubiquitin ligase complex  protein complex binding  nucleotide-excision repair, DNA incision  histone H2A monoubiquitination  DNA damage response, detection of DNA damage  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  negative regulation of apoptotic process  proteasome-mediated ubiquitin-dependent protein catabolic process  protein complex  post-translational protein modification  positive regulation of viral genome replication  positive regulation of protein catabolic process  positive regulation by virus of viral protein levels in host cell  interaction with symbiont  extracellular exosome  global genome nucleotide-excision repair  UV-damage excision repair  WD40-repeat domain binding  Cul4-RING E3 ubiquitin ligase complex  Cul4-RING E3 ubiquitin ligase complex  cullin family protein binding  regulation of mitotic cell cycle phase transition  positive regulation of viral release from host cell  
NDEx NetworkDDB1
Atlas of Cancer Signalling NetworkDDB1
Wikipedia pathwaysDDB1
Orthology - Evolution
OrthoDB1642
GeneTree (enSembl)ENSG00000167986
Phylogenetic Trees/Animal Genes : TreeFamDDB1
HOVERGENQ16531
HOGENOMQ16531
Homologs : HomoloGeneDDB1
Homology/Alignments : Family Browser (UCSC)DDB1
Gene fusions - Rearrangements
Fusion : MitelmanDDB1/TMEM258 [11q12.2/11q12.2]  
Fusion : MitelmanPRPF19/DDB1 [11q12.2/11q12.2]  [t(11;11)(q12;q12)]  
Fusion: TCGA_MDACCDDB1 11q12.2 C11orf10 BRCA
Fusion: TCGA_MDACCPRPF19 11q12.2 DDB1 11q12.2 BRCA
Fusion PortalDDB1 11q12.2 C11orf10 BRCA
Fusion PortalPRPF19 11q12.2 DDB1 11q12.2 BRCA
Fusion : QuiverDDB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDDB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DDB1
dbVarDDB1
ClinVarDDB1
1000_GenomesDDB1 
Exome Variant ServerDDB1
ExAC (Exome Aggregation Consortium)ENSG00000167986
GNOMAD BrowserENSG00000167986
Genetic variants : HAPMAP1642
Genomic Variants (DGV)DDB1 [DGVbeta]
DECIPHERDDB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDDB1 
Mutations
ICGC Data PortalDDB1 
TCGA Data PortalDDB1 
Broad Tumor PortalDDB1
OASIS PortalDDB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDDB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDDB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DDB1
DgiDB (Drug Gene Interaction Database)DDB1
DoCM (Curated mutations)DDB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DDB1 (select a term)
intoGenDDB1
Cancer3DDDB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600045   
Orphanet
DisGeNETDDB1
MedgenDDB1
Genetic Testing Registry DDB1
NextProtQ16531 [Medical]
TSGene1642
GENETestsDDB1
Target ValidationDDB1
Huge Navigator DDB1 [HugePedia]
snp3D : Map Gene to Disease1642
BioCentury BCIQDDB1
ClinGenDDB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1642
Chemical/Pharm GKB GenePA27187
Clinical trialDDB1
Miscellaneous
canSAR (ICR)DDB1 (select the gene name)
Probes
Litterature
PubMed305 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDDB1
EVEXDDB1
GoPubMedDDB1
iHOPDDB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jun 18 19:17:16 CEST 2018
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