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The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2011]
RAD23B (RAD23 Homolog B, Nucleotide Excision Repair Protein) is a Protein Coding gene. Diseases associated with RAD23B include Xeroderma Pigmentosum, Complementation Group C and Xeroderma Pigmentosum, Variant Type. Among its related pathways are Calnexin/calreticulin cycle and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include single-stranded DNA binding and polyubiquitin modification-dependent protein binding. An important paralog of this gene is RAD23A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0003684 | damaged DNA binding | IEA | -- |
GO:0003697 | single-stranded DNA binding | TAS | 8168482 |
GO:0005515 | protein binding | IPI | 10488153 |
GO:0031593 | polyubiquitin modification-dependent protein binding | IBA,IDA | 19435460 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000502 | proteasome complex | IEA | -- |
GO:0005634 | nucleus | TAS | 8168482 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | ||
2 | Nucleotide excision repair |
Nucleotide Excision Repair Pathway
.39
|
|
3 | Metabolism of proteins | ||
4 | DNA Damage | ||
5 | Protein processing in endoplasmic reticulum |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000715 | nucleotide-excision repair, DNA damage recognition | IDA,TAS | -- |
GO:0000717 | nucleotide-excision repair, DNA duplex unwinding | TAS | -- |
GO:0006281 | DNA repair | IEA | -- |
GO:0006289 | nucleotide-excision repair | TAS,IDA | 8168482 |
GO:0006294 | nucleotide-excision repair, preincision complex assembly | TAS | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c | ^ | 13 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RAD23B 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | RAD23B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RAD23B 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rad23b 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rad23b 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | RAD23B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RAD23B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RAD23B 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rad23b 30 |
|
||
Str.10080 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC53561 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rad23b 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1739 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Rad23 30 31 32 |
|
ManyToMany | |
CG10694 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | rad-23 30 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RAD23 30 31 33 |
|
OneToMany | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E22133g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR358W 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | RAD23D 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os08g0430200 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rhp23 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU07542 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1944 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1805329 | - | p.Ala249Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2669320 | CNV | deletion | 23128226 |
esv2738896 | CNV | deletion | 23290073 |
esv2738897 | CNV | deletion | 23290073 |
esv3621396 | CNV | loss | 21293372 |
nsv508560 | CNV | deletion | 20534489 |
nsv519266 | CNV | gain | 19592680 |
nsv831682 | CNV | gain | 17160897 |