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Aliases for DDB1 Gene

Aliases for DDB1 Gene

  • Damage Specific DNA Binding Protein 1 2 3 5
  • Xeroderma Pigmentosum Group E-Complementing Protein 3 4
  • UV-Damaged DNA-Binding Protein 1 3 4
  • UV-Damaged DNA-Binding Factor 3 4
  • DNA Damage-Binding Protein A 3 4
  • HBV X-Associated Protein 1 3 4
  • XPE-Binding Factor 3 4
  • DDB P127 Subunit 3 4
  • UV-DDB 1 3 4
  • XPE-BF 3 4
  • XAP-1 3 4
  • DDBA 3 4
  • XPCE 3 4
  • XAP1 3 4
  • Damage-Specific DNA Binding Protein 1 (127kD) 2
  • Damage-Specific DNA Binding Protein 1, 127kDa 3
  • Damage-Specific DNA-Binding Protein 1 4
  • DNA Damage-Binding Protein 1 3
  • UV-DDB1 3
  • XPE 3

External Ids for DDB1 Gene

Previous GeneCards Identifiers for DDB1 Gene

  • GC11P063499
  • GC11M062579
  • GC11M060842
  • GC11M060823
  • GC11M061066
  • GC11M057394

Summaries for DDB1 Gene

Entrez Gene Summary for DDB1 Gene

  • 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]

GeneCards Summary for DDB1 Gene

DDB1 (Damage Specific DNA Binding Protein 1) is a Protein Coding gene. Diseases associated with DDB1 include Xeroderma Pigmentosum Group E and Xeroderma Pigmentosum, Group E, Ddb-Negative Subtype. Among its related pathways are Nucleotide excision repair and Toll-like Receptor Signaling Pathway. GO annotations related to this gene include nucleic acid binding and damaged DNA binding. An important paralog of this gene is SF3B3.

UniProtKB/Swiss-Prot for DDB1 Gene

  • 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 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDB1 Gene

Genomics for DDB1 Gene

Regulatory Elements for DDB1 Gene

Enhancers for DDB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G061365 1.5 Ensembl ENCODE dbSUPER 12.5 -25.9 -25940 5.7 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B YY1 TCF12 GATA2 FOS TMEM216 DDB1 TKFC CYB561A3 GC11P061375
GH11G061377 1.4 FANTOM5 Ensembl ENCODE 12.5 -36.3 -36308 2.9 BCOR FOXA2 JUN ZMYM3 CEBPG RFX5 YY1 ZFHX2 ADNP SCRT2 DDB1 TKFC DAGLA CYB561A3 SDHAF2 VPS37C CPSF7 SLC15A3 TMEM138 GC11P061375
GH11G061391 1.4 Ensembl ENCODE 12.1 -49.9 -49914 3.0 HDGF PKNOX1 FOXA2 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 TMEM216 TMEM138 DDB1 TKFC VPS37C RN7SL23P PIR41666 GC11P061399
GH11G061428 1.4 ENCODE dbSUPER 10.4 -87.3 -87335 3.3 HNRNPUL1 PKNOX1 MLX CREB3L1 WRNIP1 ARID4B SIN3A YBX1 DMAP1 ZNF2 TMEM216 DDB1 TKFC CPSF7 SDHAF2 ENSG00000256591
GH11G061385 1.2 Ensembl ENCODE 12 -42.9 -42905 1.0 ELF3 CBX3 RB1 ARID4B RAD21 RFX5 ZNF366 EGR1 SCRT2 ZNF143 DDB1 TKFC TMEM216 GC11P061375
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DDB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DDB1 Gene

Chromosome:
11
Start:
61,299,447 bp from pter
End:
61,342,596 bp from pter
Size:
43,150 bases
Orientation:
Minus strand

Genomic View for DDB1 Gene

Genes around DDB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDB1 Gene

Proteins for DDB1 Gene

  • Protein details for DDB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16531-DDB1_HUMAN
    Recommended name:
    DNA damage-binding protein 1
    Protein Accession:
    Q16531
    Secondary Accessions:
    • A6NG77
    • B2R648
    • B4DG00
    • O15176
    • Q13289
    • Q58F96

    Protein attributes for DDB1 Gene

    Size:
    1140 amino acids
    Molecular mass:
    126968 Da
    Quaternary structure:
    • Component of the UV-DDB complex which includes DDB1 and DDB2; the heterodimer dimerizes to give rise to a heterotetramer when bound to damaged DNA (PubMed:22822215). 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, CRBN, DCAF1, DCAF4, DCAF5, DCAF6, DCAF7, DCAF8, DCAF9, DCAF10, DCAF11, DCAF12, DCAF15, DCAF16, DCAF17, DDA1, DET1, DTL, ERCC8, FBXW5, FBXW8, GRWD1, KATNB1, NLE1, NUP43, PAFAH1B1, PHIP, PWP1, RBBP4, RBBP5, RBBP7, RFWD2, SNRNP40, VPRBP, WDR5, WDR5B, WDR12, WDR26, WDR39, WDR42, WDR53, WDR59, WDR61, WSB1, WSB2, LRWD1 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. Interaction with SV5 protein V may prevent the recruitment of DCAF proteins to DCX complexes. Interacts with AGO1 and AGO2. Associates with the E3 ligase complex containing DYRK2, EDD/UBR5, DDB1 and VPRBP proteins (EDVP complex). Interacts directly with DYRK2. DCX(DTL) complex interacts with FBXO11; does not ubiquitinate and degradate FBXO11. Interacts with TRPC4AP (PubMed:19966799).
    • (Microbial infection) Interacts with Simian virus 5 protein V. Interacts with the hepatitis B virus protein HBX, the woodchuck hepatitis virus X protein WHX and the paramyxovirus protein SV5-V; these viral proteins contain a short helical motif that competes for the same binding site as the N-terminal helical motif found in endogenous DCAF proteins (PubMed:19966799).

    Three dimensional structures from OCA and Proteopedia for DDB1 Gene

    Alternative splice isoforms for DDB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDB1 Gene

Post-translational modifications for DDB1 Gene

  • Phosphorylated by ABL1.
  • Ubiquitinated by CUL4A. Subsequently degraded by ubiquitin-dependent proteolysis.
  • Ubiquitination at Lys92, isoforms=141, Lys153, isoforms=191, isoforms=298, isoforms=383, isoforms=408, isoforms=484, Lys570, isoforms=579, isoforms=723, Lys823, Lys857, isoforms=2897, isoforms=2917, Lys936, Lys1067, Lys1081, Lys1121, and isoforms=21131
  • Modification sites at PhosphoSitePlus

Other Protein References for DDB1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DDB1 (DDB1)

No data available for DME Specific Peptides for DDB1 Gene

Domains & Families for DDB1 Gene

Gene Families for DDB1 Gene

Graphical View of Domain Structure for InterPro Entry

Q16531

UniProtKB/Swiss-Prot:

DDB1_HUMAN :
  • The core of the protein consists of three WD40 beta-propeller domains.
  • Belongs to the DDB1 family.
Domain:
  • The core of the protein consists of three WD40 beta-propeller domains.
Family:
  • Belongs to the DDB1 family.
genes like me logo Genes that share domains with DDB1: view

Function for DDB1 Gene

Molecular function for DDB1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for DDB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding TAS 8798680
GO:0003684 contributes_to damaged DNA binding IDA,TAS 22334663
GO:0005515 protein binding IPI 9418871
GO:0032403 protein complex binding IPI 11564863
genes like me logo Genes that share ontologies with DDB1: view
genes like me logo Genes that share phenotypes with DDB1: view

Animal Models for DDB1 Gene

MGI Knock Outs for DDB1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DDB1 Gene

Localization for DDB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDB1 Gene

Cytoplasm. Nucleus. Note=Primarily cytoplasmic. Translocates to the nucleus following UV irradiation and subsequently accumulates at sites of DNA damage.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DDB1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 3
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for DDB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IDA 19135898
GO:0005615 extracellular space IDA 22664934
GO:0005634 nucleus IDA,IEA 18593899
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA,IEA 18593899
genes like me logo Genes that share ontologies with DDB1: view

Pathways & Interactions for DDB1 Gene

genes like me logo Genes that share pathways with DDB1: view

Pathways by source for DDB1 Gene

UniProtKB/Swiss-Prot Q16531-DDB1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for DDB1 Gene

Activates:

Gene Ontology (GO) - Biological Process for DDB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000715 nucleotide-excision repair, DNA damage recognition TAS --
GO:0000717 nucleotide-excision repair, DNA duplex unwinding TAS --
GO:0006281 DNA repair IEA,TAS 8798680
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006289 nucleotide-excision repair TAS 8407967
genes like me logo Genes that share ontologies with DDB1: view

Drugs & Compounds for DDB1 Gene

(3) Drugs for DDB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for DDB1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Pyrimidine
  • 1,3-Diazabenzene
  • 1,3-Diazine
  • M-Diazine
  • Metadiazine
  • Miazine
25247-63-6
genes like me logo Genes that share compounds with DDB1: view

Transcripts for DDB1 Gene

Unigene Clusters for DDB1 Gene

Damage-specific DNA binding protein 1, 127kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DDB1 Gene

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: - - - -
SP6:
SP7:
SP8:
SP9:

ExUns: 23 ^ 24 ^ 25a · 25b ^ 26a · 26b · 26c · 26d ^ 27a · 27b · 27c · 27d · 27e ^ 28 ^ 29a · 29b
SP1: - -
SP2:
SP3: - - - - - -
SP4:
SP5:
SP6: - - -
SP7: -
SP8:
SP9:

Relevant External Links for DDB1 Gene

GeneLoc Exon Structure for
DDB1
ECgene alternative splicing isoforms for
DDB1

Expression for DDB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DDB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DDB1 Gene

This gene is overexpressed in Lymph node (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DDB1 Gene



Protein tissue co-expression partners for DDB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DDB1 Gene:

DDB1

SOURCE GeneReport for Unigene cluster for DDB1 Gene:

Hs.290758

Evidence on tissue expression from TISSUES for DDB1 Gene

  • Nervous system(5)
  • Lung(4.8)
  • Skin(4.7)
  • Liver(4.6)
  • Blood(4.5)
  • Eye(4.2)
  • Intestine(3.8)
  • Kidney(2.9)
  • Heart(2.7)
  • Adrenal gland(2.4)
  • Muscle(2.1)
  • Pancreas(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DDB1 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
Organs:
General:
  • skin
genes like me logo Genes that share expression patterns with DDB1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DDB1 Gene

Orthologs for DDB1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DDB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DDB1 34 35
  • 99.66 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DDB1 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DDB1 34 35
  • 92.43 (n)
cow
(Bos Taurus)
Mammalia DDB1 34 35
  • 92.31 (n)
mouse
(Mus musculus)
Mammalia Ddb1 34 16 35
  • 90.7 (n)
rat
(Rattus norvegicus)
Mammalia Ddb1 34
  • 90.41 (n)
oppossum
(Monodelphis domestica)
Mammalia DDB1 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves DDB1 34 35
  • 83.77 (n)
lizard
(Anolis carolinensis)
Reptilia DDB1 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddb1 34
  • 77.46 (n)
Str.4452 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68476 34
zebrafish
(Danio rerio)
Actinopterygii ddb1 34 35 35
  • 78.37 (n)
zgc63840 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.752 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002472 34
  • 64.06 (n)
fruit fly
(Drosophila melanogaster)
Insecta pic 34 35
  • 60.42 (n)
DDB1 36
  • 60 (a)
worm
(Caenorhabditis elegans)
Secernentea M18.5 36
  • 37 (a)
ddb-1 35
  • 37 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSE1 35
  • 14 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons DDB1A 34
  • 55.67 (n)
rice
(Oryza sativa)
Liliopsida Os05g0592400 34
  • 56.98 (n)
Os.419 34
barley
(Hordeum vulgare)
Liliopsida Hv.5462 34
wheat
(Triticum aestivum)
Liliopsida Ta.14606 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 60 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8274 34
Species where no ortholog for DDB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for DDB1 Gene

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

Paralogs for DDB1 Gene

Paralogs for DDB1 Gene

genes like me logo Genes that share paralogs with DDB1: view

Variants for DDB1 Gene

Sequence variations from dbSNP and Humsavar for DDB1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000166510 -- 61,301,708(+) CCTTG(A/G)CTAGA intron-variant
rs1000265033 -- 61,324,165(+) CATTA(C/G)AGATT intron-variant
rs1000432082 -- 61,311,292(+) ATAAC(A/G)TAACA intron-variant
rs1000463962 -- 61,312,412(+) AACAG(G/T)CTGCT intron-variant
rs1000506153 -- 61,305,326(+) ACGTG(A/G)TGAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DDB1 Gene

Variant ID Type Subtype PubMed ID
esv2759831 CNV gain+loss 17122850
nsv428259 CNV gain+loss 18775914
nsv476039 CNV novel sequence insertion 20440878
nsv509415 CNV insertion 20534489
nsv832177 CNV loss 17160897

Variation tolerance for DDB1 Gene

Residual Variation Intolerance Score: 1.33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.70; 14.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DDB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDB1 Gene

Disorders for DDB1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for DDB1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
xeroderma pigmentosum group e
  • xeroderma pigmentosum v
xeroderma pigmentosum, group e, ddb-negative subtype
  • xeroderma pigmentosum complementation group e
hepatitis b
  • chronic hepatitis b
vitelliform macular dystrophy
  • best disease
xeroderma pigmentosum, variant type
  • de sanctis-cacchione syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DDB1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DDB1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DDB1
genes like me logo Genes that share disorders with DDB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DDB1 Gene

Publications for DDB1 Gene

  1. Protein kinase DYRK2 is a scaffold that facilitates assembly of an E3 ligase. (PMID: 19287380) Maddika S. … Chen J. (Nat. Cell Biol. 2009) 3 4 22 64
  2. The cullin 4B-based UV-damaged DNA-binding protein ligase binds to UV-damaged chromatin and ubiquitinates histone H2A. (PMID: 18593899) Guerrero-Santoro J. … Rapic-Otrin V. (Cancer Res. 2008) 3 4 22 64
  3. 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. (PMID: 18606781) McCall C.M. … Xiong Y. (Mol. Cell. Biol. 2008) 3 4 22 64
  4. WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase. (PMID: 18381890) Hu J. … Xiong Y. (Genes Dev. 2008) 3 4 22 64
  5. PCNA is a cofactor for Cdt1 degradation by CUL4/DDB1-mediated N- terminal ubiquitination. (PMID: 16407252) Senga T. … Dutta A. (J. Biol. Chem. 2006) 3 4 22 64

Products for DDB1 Gene

Sources for DDB1 Gene

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