XPC - XPC complex subunit, DNA damage recognition and repair factor Gene
Also Known as XP3; RAD4; XPCC; p125
Species: Homo sapiens
About XPC
This gene has 7 transcripts (splice variants), 197 orthologues and is associated with 86 phenotypes. Ubiquitous expression in ovary (RPKM 17.1), kidney (RPKM 15.8) and 25 other tissues.
Summary
The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is important for damage sensing and DNA binding, and shows a preference for single-stranded DNA. Mutations in this gene or some Other NER components can result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]
XPC Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001354726.2 | NP_001341655.1 | DNA repair protein complementing XP-C cells isoform 3 |
| NM_001354727.2 | NP_001341656.1 | DNA repair protein complementing XP-C cells isoform 4 |
| NM_001354729.2 | NP_001341658.1 | DNA repair protein complementing XP-C cells isoform 5 |
| NM_001354730.2 | NP_001341659.1 | DNA repair protein complementing XP-C cells isoform 6 |
| NM_004628.5 | NP_004619.3 | DNA repair protein complementing XP-C cells isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA damage sensor activity |
IDA
IDA: Inferred from direct assay
|
10873465 | GOA |
| enables damaged DNA binding |
IDA
IDA: Inferred from direct assay
|
12509299 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10488153 | GOA |
| enables protein-containing complex binding |
IDA
IDA: Inferred from direct assay
|
11259578 | GOA |
| enables single-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
12509299 | GOA |
| enables transcription coactivator activity |
IDA
IDA: Inferred from direct assay
|
29973595 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in UV-damage excision repair |
IDA
IDA: Inferred from direct assay
|
8077226 | GOA |
| involved in nucleotide-excision repair |
IDA
IDA: Inferred from direct assay
|
8168482 | GOA |
| involved in positive regulation of DNA-templated transcription |
IDA
IDA: Inferred from direct assay
|
29973595 | GOA |
| involved in regulation of mitotic cell cycle phase transition |
IMP
IMP: Inferred from mutant phenotype
|
17088560 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of XPC complex |
IDA
IDA: Inferred from direct assay
|
11279143 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
18682493 | GOA |
| part of nucleotide-excision repair complex |
IDA
IDA: Inferred from direct assay
|
11259578 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
18682493 | GOA |
XPC Protein Structure
Rad4: Rad4 transglutaminase-like domain (501 - 625)
BHD_1: Rad4 beta-hairpin domain 1 (631 - 682)
BHD_2: Rad4 beta-hairpin domain 2 (684 - 744)
BHD_3: Rad4 beta-hairpin domain 3 (751 - 825)
- 0
- 200
- 400
- 600
- 800
- 940 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
DNA repair protein complementing XP-C cells |
|
XPC Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
XPC | Q01831 | ERCC3 | Homo sapiens | P19447 | 34591642 | |
|
Intra
|
XPC | Q01831 | ERCC3 | Homo sapiens | P19447 | 10734143 | |
|
Intra
|
XPC | Q01831 | CETN2 | Homo sapiens | P41208 | 34591612 | |
|
Intra
|
XPC | Q01831 | CETN2 | Homo sapiens | P41208 | 34591642 | |
|
Intra
|
XPC | Q01831 | CETN2 | Homo sapiens | P41208 | 21962512 | |
|
Intra
|
XPC | Q01831 | CETN2 | Homo sapiens | P41208 | 33961781 | |
|
Intra
|
XPC | Q01831 | CETN2 | Homo sapiens | P41208 | 28514442 | |
|
Intra
|
XPC | Q01831 | PSMC5 | Homo sapiens | P62195 | 17693435 | |
|
Intra
|
XPC | Q01831 | GTF2H1 | Homo sapiens | P32780 | 34591642 | |
|
Intra
|
XPC | Q01831 | GTF2H1 | Homo sapiens | P32780 | 10734143 | |
|
Intra
|
XPC | Q01831 | RAD23B | Homo sapiens | P54727 | 34591612 | |
|
Intra
|
XPC | Q01831 | RAD23B | Homo sapiens | P54727 | 33961781 | |
|
Intra
|
XPC | Q01831 | RAD23B | Homo sapiens | P54727 | 34591642 | |
|
Intra
|
XPC | Q01831 | RAD23B | Homo sapiens | P54727 | 21962512 | |
|
Intra
|
XPC | Q01831 | RAD23B | Homo sapiens | P54727 | 10488153 | |
|
Cross
|
XPC | Q01831 | kr2_ebvb9 | Epstein-Barr virus | P13288 | 18024891 | |
|
Cross
|
XPC | Q01831 | kr2_ebvb9 | Epstein-Barr virus | P13288 | 18024891 | |
|
Cross
|
XPC | Q01831 | kr2_ebvb9 | Epstein-Barr virus | P13288 | 18024891 | |
|
Cross
|
XPC | Q01831 | kr2_ebvb9 | Epstein-Barr virus | P13288 | 18024891 |
XPC Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P84461 | XPC Antibody (YA4158) | WB, IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P84461A | XPC Antibody (YA4158)(PBS only) | WB, IHC-P, ICC/IF, FC, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Xeroderma Pigmentosum, Complementation Group C |
|
|
| Xeroderma Pigmentosum, Variant Type |
|
|
| Xeroderma Pigmentosum, Complementation Group A |
|
|
| Cockayne Syndrome |
|
|
| Xeroderma Pigmentosum, Complementation Group E |
|
|
| Trichothiodystrophy |
|
|
| Li-Fraumeni Syndrome |
|
|
| Prostate Calculus |
|
|
| Skin Carcinoma |
|
|
| Xeroderma Pigmentosum, Complementation Group G |
|
|
| Uv-Sensitive Syndrome |
|
|
| Cockayne Syndrome A |
|
|
| Huntington Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | XPC | VGNC | VGNC:67109 |
| Canis familiaris | XPC | VGNC | VGNC:48456 |
| Mus musculus | XPC | MGD | MGI:103557 |
| Macaca mulatta | XPC | VGNC | VGNC:78809 |
| Rattus norvegicus | XPC | RGD | RGD:1305760 |
| Bos taurus | XPC | VGNC | VGNC:36993 |
| Others | XPC | NCBI |