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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]
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 Nucleotide excision repair. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and damaged DNA binding. An important paralog of this gene is SF3B3.
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,IBA | 22334663 |
GO:0005515 | protein binding | IEA,IPI | 9418871 |
GO:0030674 | protein binding, bridging | IPI | 14739464 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000784 | nuclear 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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | ||
2 | Nucleotide excision repair | ||
3 | DNA Damage | ||
4 | Toll-like Receptor Signaling Pathway |
.37
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5 | Human cytomegalovirus infection |
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 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Pyrimidine |
|
25247-63-6 |
|
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: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | DDB1 33 32 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | DDB1 33 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | DDB1 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | DDB1 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Ddb1 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Ddb1 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | DDB1 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | DDB1 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | DDB1 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | ddb1 32 |
|
||
Str.4452 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68476 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | ddb1 33 33 32 |
|
OneToMany | |
zgc63840 32 |
|
||||
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.752 32 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002472 32 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | pic 33 32 |
|
OneToOne | |
DDB1 34 |
|
|
|||
worm (Caenorhabditis elegans) |
Secernentea | ddb-1 33 |
|
OneToOne | |
M18.5 34 |
|
|
|||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RSE1 33 |
|
OneToMany | |
thale cress (Arabidopsis thaliana) |
eudicotyledons | DDB1A 32 |
|
||
rice (Oryza sativa) |
Liliopsida | Os05g0592400 32 |
|
||
Os.419 32 |
|
||||
wheat (Triticum aestivum) |
Liliopsida | Ta.14606 32 |
|
||
barley (Hordeum vulgare) |
Liliopsida | Hv.5462 32 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToOne | |
Cin.8274 32 |
|
||||
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.8274 32 |
|
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000166510 | -- | 61,301,708(-) | G/A | intron_variant | |
rs1000265033 | -- | 61,324,165(-) | G/C | intron_variant | |
rs1000432082 | -- | 61,311,292(-) | A/G | intron_variant | |
rs1000463962 | -- | 61,312,412(-) | T/G | intron_variant | |
rs1000506153 | -- | 61,305,326(-) | G/A | intron_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
xeroderma pigmentosum, complementation group e |
|
|
xeroderma pigmentosum group e |
|
|
hepatitis b |
|
|
xeroderma pigmentosum, variant type |
|
|
cockayne syndrome |
|
|