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Q92466 Proteins with WD Repeats
Uniprot ID: Q92466
Protein name : DNA damage-binding protein 2
Gene : DDB2
Protein Families : WD repeat DDB2/WDR76 family
Squence Length : 427
Sequence
>Q92466 428 MAPKKRPETQKTSEIVLRPRNKRSRSPLELEPEAKKLCAKGSGPSRRCDSDCLWVGLAGPQILPPCRSIVRTLHQHKLGRASWPSVQQGLQQSFLHTLDSYRILQKAAPFDRRATSLAWHPTHPSTVAVGSKGGDIMLWNFGIKDKPTFIKGIGAGGSITGLKFNPLNTNQFYASSMEGTTRLQDFKGNILRVFASSDTINIWFCSLDVSASSRMVVTGDNVGNVILLNMDGKELWNLRMHKKKVTHVALNPCCDWFLATASVDQTVKIWDLRQVRGKASFLYSLPHRHPVNAACFSPDGARLLTTDQKSEIRVYSASQWDCPLGLIPHPHRHFQHLTPIKAAWHPRYNLIVVGRYPDPNFKSCTPYELRTIDVFDGNSGKMMCQLYDPESSGISSLNEFNPMGDTLASAMGYHILIWSQEEARTRK
Repeat regions
REPEAT 116 151 WD 1 REPEAT 159 194 WD 2 REPEAT 203 238 WD 3 REPEAT 244 287 WD 4 REPEAT 290 329 WD 5 REPEAT 343 386 WD 6 REPEAT 396 420 WD 7
Sequence region of repeats
116- 151 AWHPTHPSTVAVGSKGGDIMLWNFGIKDKPTFIKGI 159- 194 GLKFNPLNTNQFYASSMEGTTRLQDFKGNILRVFAS 203- 238 CSLDVSASSRMVVTGDNVGNVILLNMDGKELWNLRM 244- 287 THVALNPCCDWFLATASVDQTVKIWDLRQVRGKASFLYSLPHRH 290- 329 NAACFSPDGARLLTTDQKSEIRVYSASQWDCPLGLIPHPH 343- 386 HPRYNLIVVGRYPDPNFKSCTPYELRTIDVFDGNSGKMMCQLYD 396- 420 NEFNPMGDTLASAMGYHILIWSQEE
Function
"Required for DNA repair. Binds to DDB1 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 the substrate recognition module for the DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex DDB1-CUL4-ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1). The DDB1-CUL4-ROC1 complex 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. The DDB1-CUL4-ROC1 complex also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER. Isoform D1 and isoform D2 inhibit UV-damaged DNA repair"
Motifs
MOTIF 256 274 DWD box
Mutation
258 258 L->A: Impairs interaction with DDB1 262 262 S->A: Impairs interaction with DDB1 264 264 D->A: Impairs interaction with DDB1 269 269 I->A: Impairs interaction with DDB1 270 270 W->A: Impairs interaction with DDB1 272 272 L->A: Impairs interaction with DDB1 273 273 R->A: Impairs interaction with DDB1 350 350 L->P: Impairs interaction with DDB1
Disease
"DISEASE: Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740]: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities The skin develops marked freckling and other pigmentation abnormalities XP-E patients show a mild phenotype with minimal or no neurologic features Note=The disease is caused by mutations affecting the gene represented in this entry"