| URN | urn:agi-llid:1642 |
|---|---|
| Connectivity | 76 |
| Name | Ddb1 |
| Description | damage-specific DNA binding protein 1, 127kDa |
| Notes | This gene encodes the large subunit of DNA damage-binding protein which is a heterodimer composed of a large and a small subunit. This protein functions in nucleotide-excision repair. Its defective activity causes the repair defect in the patients with xeroderma pigmentosum complementation group E (XPE). 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. [provided by RefSeq] |
| Pathway | nucleotide excision repair pathway |
|---|
| GO Molecular Function | nucleic acid binding |
|---|---|
| DNA binding | |
| damaged DNA binding |
| GO Cellular Component | cytoplasm |
|---|---|
| Cul4A-RING ubiquitin ligase complex | |
| Cul4B-RING ubiquitin ligase complex | |
| nucleoplasm | |
| nucleus |
| GO Biological Process | interspecies interaction between organisms |
|---|---|
| cell cycle checkpoint | |
| DNA repair | |
| nucleotide-excision repair | |
| nucleotide-excision repair, DNA damage removal | |
| protein ubiquitination involved in ubiquitin-dependent protein catabolic process | |
| proteasomal ubiquitin-dependent protein catabolic process | |
| response to DNA damage stimulus |
| Ariadne Ontology | DNA repair |
|---|
| Group | DNA repair |
|---|---|
| interspecies interaction between organisms | |
| cell cycle checkpoint | |
| DNA repair | |
| nucleotide-excision repair | |
| nucleotide-excision repair, DNA damage removal | |
| protein ubiquitination involved in ubiquitin-dependent protein catabolic process | |
| proteasomal ubiquitin-dependent protein catabolic process | |
| response to DNA damage stimulus | |
| nucleic acid binding | |
| DNA binding | |
| damaged DNA binding | |
| cytoplasm | |
| Cul4A-RING ubiquitin ligase complex | |
| Cul4B-RING ubiquitin ligase complex | |
| nucleoplasm | |
| nucleus |
| MedScan ID | 1642 |
|---|
| Hugo ID | 2717 |
|---|
| Human chromosome position | 11q12-q13 |
|---|
| LocusLink ID | 1642 |
|---|---|
| 13194 | |
| 64470 |
| Alias | XPE |
|---|---|
| DDBA | |
| XAP1 | |
| XPCE | |
| XPE-BF | |
| UV-DDB1 | |
| DNA damage-binding protein 1 | |
| XAP-1 | |
| UV-DDB 1 | |
| DDB p127 subunit | |
| XPE-binding factor | |
| HBV X-associated protein 1 | |
| DNA damage-binding protein a | |
| UV-damaged DNA-binding factor | |
| UV-damaged DNA-binding protein 1 | |
| damage-specific DNA-binding protein 1 | |
| xeroderma pigmentosum group E-complementing protein | |
| 127kDa | |
| AA408517 | |
| p127-Ddb1 | |
| DNA repair protein | |
| damaged-DNA recognition protein 1 | |
| damage-specific DNA-binding protein, DNA repair | |
| damage specific DNA binding protein 1 | |
| 127 kDa damage-specific DNA binding protein 1 | |
| 127 kDa damage-specific DNA binding protein I | |
| 127kDa damage-specific DNA-binding protein | |
| damage-specific DNA binding protein 1 (127kD) | |
| damage-specific DNA binding protein 1, 127kDa | |
| Damage-specific DNA binding protein I | |
| damage-specific DNA-binding protein, 127kDa | |
| Ddb I | |
| Ddb1 | |
| DNA damage binding protein 1 | |
| DNA damage binding protein I | |
| p127-Ddb I | |
| UV- DDB 1 | |
| UV- DDB I | |
| UV-damaged DNA-binding protein I | |
| XAP I | |
| X-associated protein 1 | |
| X-associated protein I | |
| Xeroderma pigmentosum group E complementing protein |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 600045 |
|---|
| Mouse chromosome position | 19 5.0 cM |
|---|
| GO ID | 0003677 |
|---|---|
| 0003684 | |
| 0006281 | |
| 0000075 | |
| 0044419 | |
| 0006289 | |
| 0000718 | |
| 0043161 | |
| 0042787 | |
| 0031464 | |
| 0031465 | |
| 0005737 | |
| 0005654 | |
| 0005634 | |
| 0003676 | |
| 0006974 |
| Rat chromosome position | 1q43 |
|---|
| Swiss-Prot Accession | Q16531 |
|---|---|
| Q3U1J4 | |
| Q3ULS8 | |
| Q91YC8 | |
| Q9ESW0 | |
| Q3U4D0 | |
| Q3U8G3 | |
| Q3UJC4 | |
| Q99LV3 | |
| Q9QYK0 | |
| Q9WV39 |
| PIR ID | JC7152 |
|---|
| Unigene ID | Hs.290758 |
|---|---|
| Mm.289915 | |
| Mm.466856 |
| KEGG ID | hsa:1642 |
|---|---|
| mmu:13194 | |
| rno:64470 |
| Swiss-Prot ID | DDB1_MOUSE |
|---|---|
| DDB1_HUMAN |
| Cell Localization | Cytoplasm |
|---|---|
| Nucleus |
| IPI ID | IPI00316740 |
|---|---|
| IPI00293464 | |
| IPI00830885 | |
| IPI00324451 |
| Homologene ID | 1448 |
|---|
| RGD ID | 621889 |
|---|
| MGI ID | 1202384 |
|---|