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MIRAGE
DNA excision repair protein ERCC-6
Summary
- UniProt ID
- Q03468
- Gene Symbol
-
- CSB
- ERCC6
- Gene ID
- 2074
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Age-related macular degeneration
- Alternative splicing
- Cataract
- Cockayne syndrome
- DNA repair
- DNA-binding
- Deafness
- Disease variant
- Dwarfism
- Helicase
- Intellectual disability
- Isopeptide bond
- Methylation
- Neurogenesis
- Nucleus
- Phosphoprotein
- Reference proteome
- Transcription regulation
- Ubl conjugation
- Xeroderma pigmentosum
- Gene Ontology (GO)
| GO Term |
|---|
| B-WICH complex |
| nucleolus |
| nucleus |
| nucleoplasm |
| transcription elongation factor complex |
| site of DNA damage |
Sequence
MPNEGIPHSSQTQEQDCLQSQPVSNNEEMAIKQESGGDGEVEEYLSFRSVGDGLSTSAVGCASAAPRRGPALLHIDRHQIQAVEPSAQALELQGLGVDVYDQDVLEQGVLQQVDNAIHEASRASQLVDVEKEYRSVLDDLTSCTTSLRQINKIIEQLSPQAATSRDINRKLDSVKRQKYNKEQQLKKITAKQKHLQAILGGAEVKIELDHASLEEDAEPGPSSLGSMLMPVQETAWEELIRTGQMTPFGTQIPQKQEKKPRKIMLNEASGFEKYLADQAKLSFERKKQGCNKRAARKAPAPVTPPAPVQNKNKPNKKARVLSKKEERLKKHIKKLQKRALQFQGKVGLPKARRPWESDMRPEAEGDSEGEESEYFPTEEEEEEEDDEVEGAEADLSGDGTDYELKPLPKGGKRQKKVPVQEIDDDFFPSSGEEAEAASVGEGGGGGRKVGRYRDDGDEDYYKQRLSPKMPRTLSLHEITDLLETDDSIEASAIVIQPPENATAPVSDEESGDEEGGTINNLPGSLLHTAAYLIQDGSDAESDSDDPSYAPKDDSPDEVPSTFTVQQPPPSRRRKMTKILCKWKKADLTVQPVAGRVTAPPNDFFTVMRTPTEILELFLDDEVIELIVKYSNLYACSKGVHLGLTSSEFKCFLGIIFLSGYVSVPRRRMFWEQRTDVHNVLVSAAMRRDRFETIFSNLHVADNANLDPVDKFSKLRPLISKLNERCMKFVPNETYFSFDEFMVPYFGRHGCKQFIRGKPIRFGYKFWCGATCLGYICWFQPYQGKNPNTKHEEYGVGASLVLQFSEALTEAHPGQYHFVFNNFFTSIALLDKLSSMGHQATGTVRKDHIDRVPLESDVALKKKERGTFDYRIDGKGNIVCRWNDNSVVTVASSGAGIHPLCLVSRYSQKLKKKIQVQQPNMIKVYNQFMGGVDRADENIDKYRASIRGKKWYSSPLLFCFELVLQNAWQLHKTYDEKPVDFLEFRRRVVCHYLETHGHPPEPGQKGRPQKRNIDSRYDGINHVIVKQGKQTRCAECHKNTTFRCEKCDVALHVKCSVEYHTE
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 303 |
|
|
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Activation of rRNA Expression by ERCC6 (CSB) and EHMT2 (G9a) | Homo sapiens |
| B-WICH complex positively regulates rRNA expression | Homo sapiens |
| Dual incision in TC-NER | Homo sapiens |
| Formation of TC-NER Pre-Incision Complex | Homo sapiens |
| Gap-filling DNA repair synthesis and ligation in TC-NER | Homo sapiens |
| RNA Polymerase I Transcription Initiation | Homo sapiens |
| Transcription-Coupled Nucleotide Excision Repair (TC-NER) | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060240 | UV-sensitive syndrome | |
| DOID:0080199 | colorectal carcinoma | |
| DOID:0080868 | primary ovarian insufficiency 11 | |
| DOID:0080908 | Cockayne syndrome B | |
| DOID:0080911 | cerebrooculofacioskeletal syndrome 1 | |
| DOID:0110028 | age related macular degeneration 5 | |
| DOID:0112158 | De Sanctis-Cacchione syndrome | |
| DOID:10534 | stomach cancer | |
| DOID:1324 | lung cancer | |
| DOID:14184 | polyneuropathy due to drug |
