DDB1 Gene (Protein Coding)

Damage Specific DNA Binding Protein 1

GC11M066512
GIFtS:
43
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 complementatio... See more...

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 1 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
  • 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
  • UV-DDB1 3
  • DDBA 3
  • XPCE 3
  • DDB1 5
  • DDBa 4
  • XPCe 4
  • XPE 3

External Ids for DDB1 Gene

Previous GeneCards Identifiers for DDB1 Gene

  • GC11P063499
  • GC11M062579
  • GC11M061317
  • GC11M060842
  • GC11M060823
  • GC11M061066
  • GC11M057394
  • GC11M061301
  • GC11M061563
  • GC11M063815

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, Complementation Group E and Xeroderma Pigmentosum Group E. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and damaged DNA binding. An important paralog of this gene is CPSF1.

UniProtKB/Swiss-Prot Summary for DDB1 Gene

  • Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively (PubMed:15448697, PubMed:14739464, PubMed:16260596, PubMed:16482215, PubMed:17079684, PubMed:16407242, PubMed:16407252, PubMed:16940174). Core component of the UV-DDB complex (UV-damaged DNA-binding protein complex), a complex that recognizes UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair (PubMed:15448697, PubMed:16260596, PubMed:16407242, PubMed:16940174). The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches (PubMed:15448697, PubMed:16260596, PubMed:16407242, PubMed:16940174). Also functions 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 (PubMed:14739464, PubMed:16407252, PubMed:16482215, PubMed:17079684, PubMed:25043012, PubMed:25108355, PubMed:18332868, PubMed:18381890, PubMed:19966799, PubMed:22118460, PubMed:28886238). The functional specificity of the DCX E3 ubiquitin-protein ligase complex is determined by the variable substrate recognition component recruited by DDB1 (PubMed:14739464, PubMed:16407252, PubMed:16482215, PubMed:17079684, PubMed:25043012, PubMed:25108355, PubMed:18332868, PubMed:18381890, PubMed:19966799, PubMed:22118460). 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 (PubMed:16678110, PubMed:17041588, PubMed:16473935, PubMed:18593899). The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair (PubMed:16678110, PubMed:17041588, PubMed:16473935, PubMed:18593899). DCX(DDB2) also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER (PubMed:15882621). 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 (PubMed:17041588). DCX(ERCC8) (the CSA complex) plays a role in transcription-coupled repair (TCR) (PubMed:12732143). The DDB1-CUL4A-DTL E3 ligase complex regulates the circadian clock function by mediating the ubiquitination and degradation of CRY1 (PubMed:26431207). DDB1-mediated CRY1 degradation promotes FOXO1 protein stability and FOXO1-mediated gluconeogenesis in the liver (By similarity).

Gene Wiki entry for DDB1 Gene

Additional gene information for DDB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DDB1 Gene

Genomics for DDB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DDB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DDB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DDB1

Top Transcription factor binding sites by QIAGEN in the DDB1 gene promoter:
  • CUTL1
  • ITF-2
  • NF-1
  • STAT3
  • Tal-1beta
  • YY1

Genomic Locations for DDB1 Gene

Latest Assembly
chr11:61,299,451-61,342,596
(GRCh38/hg38)
Size:
43,146 bases
Orientation:
Minus strand

Previous Assembly
chr11:61,066,923-61,100,577
(GRCh37/hg19 by Entrez Gene)
Size:
33,655 bases
Orientation:
Minus strand

chr11:61,066,923-61,110,068
(GRCh37/hg19 by Ensembl)
Size:
43,146 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 Structure • Gene Density

RefSeq DNA sequence for DDB1 Gene

Proteins for DDB1 Gene

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  • 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:9632823, PubMed:16223728, PubMed:16527807, PubMed:19109893, PubMed:22822215). The UV-DDB complex interacts with monoubiquitinated histone H2A and binds to XPC via the DDB2 subunit (PubMed:16473935). 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 (PubMed:11673459, PubMed:12732143, PubMed:15882621, PubMed:16678110, PubMed:18593899, PubMed:28886238, PubMed:28437394, PubMed:28302793, PubMed:31693891, PubMed:31686031, PubMed:31819272, PubMed:31693911). DDB1 may recruit specific substrate targeting subunits to the DCX complex (PubMed:11673459, PubMed:12732143, PubMed:15882621, PubMed:18593899, PubMed:28886238). These substrate targeting subunits are generally known as DCAF (DDB1- and CUL4-associated factor) or CDW (CUL4-DDB1-associated WD40-repeat) proteins (PubMed:17079684, PubMed:16949367, PubMed:18606781, PubMed:19608861, PubMed:16964240, PubMed:19966799). 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, COP1, SNRNP40, DCAF1, WDR5, WDR5B, WDR12, WDR26, WDR39, WDR42, WDR53, WDR59, WDR61, WSB1, WSB2, LRWD1 and WDTC1 (PubMed:14739464, PubMed:17079684, PubMed:16949367, PubMed:17041588, PubMed:18606781, PubMed:22935713, PubMed:23478445, PubMed:22118460, PubMed:25043012, PubMed:25108355). DCX complexes may associate with the COP9 signalosome, and this inhibits the E3 ubiquitin-protein ligase activity of the complex (PubMed:15448697, PubMed:16260596). Interacts with NF2, TSC1 and TSC2 (PubMed:18332868, PubMed:18381890). Interacts with AGO1 and AGO2 (PubMed:17932509). Associates with the E3 ligase complex containing DYRK2, EDD/UBR5, DDB1 and DCAF1 proteins (EDVP complex) (PubMed:19287380). Interacts directly with DYRK2 (PubMed:19287380). DCX(DTL) complex interacts with FBXO11; does not ubiquitinate and degradate FBXO11 (PubMed:19287380). Interacts with TRPC4AP (PubMed:19966799). Interacts with CRY1 and CRY2 (By similarity). The DDB1-CUL4A complex interacts with CRY1 (PubMed:26431207). May also interact with DCUN1D1, DCUN1D2, DCUN1D3 and DCUN1D5 (PubMed:26906416).
    • (Microbial infection) Interacts with Simian virus 5 protein V.
    • (Microbial infection) Interacts with hepatitis B virus protein HBX; the viral protein contains a short helical motif that competes for the same binding site as the N-terminal helical motif found in endogenous DCAF proteins.

    Three dimensional structures from OCA and Proteopedia for DDB1 Gene

    Alternative splice isoforms for DDB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDB1 Gene

Protein Expression for DDB1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DDB1 Gene

  • Phosphorylated by ABL1.
  • Ubiquitinated by CUL4A. Subsequently degraded by ubiquitin-dependent proteolysis.
  • Acetylated, promoting interaction with CUL4 (CUL4A or CUL4B) and subsequent formation of DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes (PubMed:28886238). Deacetylation by SIRT7 impairs the interaction with CUL4 (CUL4A or CUL4B) and formation of DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes (PubMed:28886238).
  • Ubiquitination at Lys92, Lys823, Lys141, Lys153, Lys857, Lys191, Lys897, Lys917, Lys936, Lys298, Lys1067, Lys383, Lys1081, Lys408, Lys1121, Lys1131, Lys484, Lys570, Lys579, and Lys723
  • Modification sites at PhosphoSitePlus

Other Protein References for DDB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DDB1 Gene

Domains & Families for DDB1 Gene

Gene Families for DDB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DDB1 Gene

InterPro:
Blocks:
  • CPSF A subunit C-terminal

Suggested Antigen Peptide Sequences for DDB1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52436, highly similar to DNA damage-binding protein 1 (B4DG00_HUMAN)
  • cDNA FLJ51165, highly similar to DNA damage-binding protein 1 (B4DZP5_HUMAN)
  • Xeroderma pigmentosum group E-complementing protein (DDB1_HUMAN)

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

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  6. Cell Lines for research

Molecular function for DDB1 Gene

UniProtKB/Swiss-Prot Function:
Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively (PubMed:15448697, PubMed:14739464, PubMed:16260596, PubMed:16482215, PubMed:17079684, PubMed:16407242, PubMed:16407252, PubMed:16940174). Core component of the UV-DDB complex (UV-damaged DNA-binding protein complex), a complex that recognizes UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair (PubMed:15448697, PubMed:16260596, PubMed:16407242, PubMed:16940174). The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches (PubMed:15448697, PubMed:16260596, PubMed:16407242, PubMed:16940174). Also functions 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 (PubMed:14739464, PubMed:16407252, PubMed:16482215, PubMed:17079684, PubMed:25043012, PubMed:25108355, PubMed:18332868, PubMed:18381890, PubMed:19966799, PubMed:22118460, PubMed:28886238). The functional specificity of the DCX E3 ubiquitin-protein ligase complex is determined by the variable substrate recognition component recruited by DDB1 (PubMed:14739464, PubMed:16407252, PubMed:16482215, PubMed:17079684, PubMed:25043012, PubMed:25108355, PubMed:18332868, PubMed:18381890, PubMed:19966799, PubMed:22118460). 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 (PubMed:16678110, PubMed:17041588, PubMed:16473935, PubMed:18593899). The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair (PubMed:16678110, PubMed:17041588, PubMed:16473935, PubMed:18593899). DCX(DDB2) also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER (PubMed:15882621). 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 (PubMed:17041588). DCX(ERCC8) (the CSA complex) plays a role in transcription-coupled repair (TCR) (PubMed:12732143). The DDB1-CUL4A-DTL E3 ligase complex regulates the circadian clock function by mediating the ubiquitination and degradation of CRY1 (PubMed:26431207). DDB1-mediated CRY1 degradation promotes FOXO1 protein stability and FOXO1-mediated gluconeogenesis in the liver (By similarity).
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

Phenotypes From GWAS Catalog for DDB1 Gene

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 TAS,IDA 22334663
GO:0005515 protein binding IEA,IPI 9418871
GO:0030674 protein binding, bridging IPI 14739464
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:
  • Ddb1 Ddb1<tm1.1Spg>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDB1

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 (PubMed:10777491, PubMed:11673459). Translocates to the nucleus following UV irradiation and subsequently accumulates at sites of DNA damage (PubMed:10777491, PubMed:11673459). {ECO:0000269 PubMed:10777491, ECO:0000269 PubMed:11673459}.

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
nucleus 5
extracellular 4
cytosol 4
mitochondrion 3
plasma membrane 2
cytoskeleton 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DDB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region HDA 19135898
GO:0005615 extracellular space HDA 22664934
GO:0005634 nucleus IEA,IDA 18593899
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 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

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 --
genes like me logo Genes that share ontologies with DDB1: view

Drugs & Compounds for DDB1 Gene

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(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-Diazin
  • 1,3-Diazine
  • m-Diazine
  • Metadiazine
  • Pyrimidin
 25247-63-6
genes like me logo Genes that share compounds with DDB1: view

Transcripts for DDB1 Gene

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mRNA/cDNA for DDB1 Gene

1 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
45 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDB1

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

Expression for DDB1 Gene

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

mRNA expression in normal human tissues for DDB1 Gene
mRNA expression by GTEx for DDB1 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for DDB1 Gene



Protein tissue co-expression partners for DDB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DDB1

SOURCE GeneReport for Unigene cluster for DDB1 Gene:

Hs.290758

Evidence on tissue expression from TISSUES for DDB1 Gene

  • Nervous system(5)
  • Lung(4.9)
  • Skin(4.8)
  • Liver(4.7)
  • Blood(4.6)
  • Eye(4.3)
  • Intestine(4.2)
  • Kidney(3.6)
  • Heart(3.2)
  • Muscle(2.8)
  • Adrenal gland(2.7)
  • Pancreas(2.6)
  • Lymph node(2.5)
  • Spleen(2.4)
  • Bone marrow(2.4)
  • Thyroid gland(2.3)
  • Stomach(2.3)

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

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

Primer products for research

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 29 30
  • 99.66 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia DDB1 30
  • 98 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DDB1 29 30
  • 92.43 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DDB1 29 30
  • 92.31 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Ddb1 29 16 30
  • 90.7 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ddb1 29
  • 90.41 (n)
Oppossum
(Monodelphis domestica)
 Mammalia DDB1 30
  • 90 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves DDB1 29 30
  • 83.77 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DDB1 30
  • 97 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ddb1 29
  • 77.46 (n)
Str.4452 29
African clawed frog
(Xenopus laevis)
 Amphibia MGC68476 29
Zebrafish
(Danio rerio)
 Actinopterygii ddb1 29 30 30
  • 78.37 (n)
 OneToMany
zgc63840 29
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.752 29
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP002472 29
  • 64.06 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta pic 29 30
  • 60.42 (n)
 OneToOne
DDB1 31
  • 60 (a)
Worm
(Caenorhabditis elegans)
 Secernentea ddb-1 30
  • 37 (a)
 OneToOne
M18.5 31
  • 37 (a)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes RSE1 30
  • 14 (a)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons DDB1A 29
  • 55.67 (n)
Rice
(Oryza sativa)
 Liliopsida Os05g0592400 29
  • 56.98 (n)
Os.419 29
Barley
(Hordeum vulgare)
 Liliopsida Hv.5462 29
Wheat
(Triticum aestivum)
 Liliopsida Ta.14606 29
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 60 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.8274 29
Species where no ortholog for DDB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for DDB1: view image
Alliance of Genome Resources:
Additional Orthologs for DDB1

Paralogs for DDB1 Gene

Paralogs for DDB1 Gene

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

Variants for DDB1 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DDB1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs2230358 Benign: not provided 61,309,037(-) G/A
NM_001923.5(DDB1):c.2607C>T (p.Ala869=) 		SYNONYMOUS
rs28720291 Benign: not provided 61,322,299(-) C/T
NM_001923.5(DDB1):c.1119G>A (p.Gly373=) 		SYNONYMOUS
rs28720326 Benign: not provided 61,310,416(-) A/G
NM_001923.5(DDB1):c.2280T>C (p.Ala760=) 		SYNONYMOUS
rs56207912 Benign: not provided 61,325,604(-) C/T
NM_001923.5(DDB1):c.762+7G>A 		INTRON
rs769032698 Uncertain Significance: Heart, malformation of 61,316,553(-) G/A
NM_001923.5(DDB1):c.1240C>T (p.Arg414Trp) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DDB1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for DDB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDB1
Leiden Open Variation Database (LOVD)
DDB1

SNP Genotyping and Copy Number Assays for research

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

Disorders for DDB1 Gene

MalaCards: The human disease database

(21) MalaCards diseases for DDB1 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search DDB1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DDB1

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 (Nature cell biology 2009) 3 4 22
  2. 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 CM … Xiong Y (Molecular and cellular biology 2008) 3 4 22
  3. The cullin 4B-based UV-damaged DNA-binding protein ligase binds to UV-damaged chromatin and ubiquitinates histone H2A. (PMID: 18593899) Guerrero-Santoro J … Rapić-Otrin V (Cancer research 2008) 3 4 22
  4. WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase. (PMID: 18381890) Hu J … Xiong Y (Genes & development 2008) 3 4 22
  5. A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1. (PMID: 16949367) Jin J … Walter JC (Molecular cell 2006) 3 4 22

ExternalLinks

View latest publications for DDB1 gene in Mastermind

Products for DDB1 Gene

  • Addgene plasmids for DDB1

Sources for DDB1 Gene