• Gene id: 7508

Gene Summary

• Gene Symbol: XPC   Gene   UCSC   Ensembl
• Aliases: RAD4, XP3, XPCC, p125
• Gene name: XPC complex subunit, DNA damage recognition and repair factor
• Alternate names: DNA repair protein complementing XP-C cells, mutant xeroderma pigmentosum group C, xeroderma pigmentosum, complementation group C,
• Gene location: 3p25.1 (14178671: 14145144)     Exons: 18     NC_000003.12
• Gene summary(Entrez): 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 pr
• OMIM: 613208

Protein Summary

• Protein general information: Q01831  
  • Name: DNA repair protein complementing XP C cells (Xeroderma pigmentosum group C complementing protein) (p125)
  • Length: 940  
  • Mass: 105,953
• Sequence:

  MARKRAAGGEPRGRELRSQKSKAKSKARREEEEEDAFEDEKPPKKSLLSKVSQGKRKRGCSHPGGSADGPAKKKV
  AKVTVKSENLKVIKDEALSDGDDLRDFPSDLKKAHHLKRGATMNEDSNEEEEESENDWEEVEELSEPVLGDVRES
  TAFSRSLLPVKPVEIEIETPEQAKTRERSEKIKLEFETYLRRAMKRFNKGVHEDTHKVHLLCLLANGFYRNNICS
  QPDLHAIGLSIIPARFTRVLPRDVDTYYLSNLVKWFIGTFTVNAELSASEQDNLQTTLERRFAIYSARDDEELVH
  IFLLILRALQLLTRLVLSLQPIPLKSATAKGKKPSKERLTADPGGSSETSSQVLENHTKPKTSKGTKQEETFAKG
  TCRPSAKGKRNKGGRKKRSKPSSSEEDEGPGDKQEKATQRRPHGRERRVASRVSYKEESGSDEAGSGSDFELSSG
  EASDPSDEDSEPGPPKQRKAPAPQRTKAGSKSASRTHRGSHRKDPSLPAASSSSSSSKRGKKMCSDGEKAEKRSI
  AGIDQWLEVFCEQEEKWVCVDCVHGVVGQPLTCYKYATKPMTYVVGIDSDGWVRDVTQRYDPVWMTVTRKCRVDA
  EWWAETLRPYQSPFMDREKKEDLEFQAKHMDQPLPTAIGLYKNHPLYALKRHLLKYEAIYPETAAILGYCRGEAV
  YSRDCVHTLHSRDTWLKKARVVRLGEVPYKMVKGFSNRARKARLAEPQLREENDLGLFGYWQTEEYQPPVAVDGK
  VPRNEFGNVYLFLPSMMPIGCVQLNLPNLHRVARKLDIDCVQAITGFDFHGGYSHPVTDGYIVCEEFKDVLLTAW
  ENEQAVIERKEKEKKEKRALGNWKLLAKGLLIRERLKRRYGPKSEAAAPHTDAGGGLSSDEEEGTSSQAEAARIL
  AASWPQNREDEEKQKLKGGPKKTKREKKAAASHLFPFEQL

• Structural information:
  • Interpro: IPR018327  IPR004583  IPR018026  IPR018325  IPR018326   IPR018328  IPR036985  
  • PDB: 2A4J 2GGM 2OBH 2RVB
  • PDBsum: 2A4J 2GGM 2OBH 2RVB
  • DIP: 31225
  • STRING: ENSP00000285021
• Other Databases: GeneCards:  XPC  Malacards:  XPC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000111	nucleotide-excision repair factor 2 complex	IBA	cellular component
GO:0000404	heteroduplex DNA loop binding	TAS	molecular function
GO:0000405	bubble DNA binding	TAS	molecular function
GO:0000715	nucleotide-excision repair, DNA damage recognition	IDA	biological process
GO:0000715	nucleotide-excision repair, DNA damage recognition	IDA	biological process
GO:0000715	nucleotide-excision repair, DNA damage recognition	TAS	biological process
GO:0000717	nucleotide-excision repair, DNA duplex unwinding	TAS	biological process
GO:0003684	damaged DNA binding	IDA	molecular function
GO:0003684	damaged DNA binding	IDA	molecular function
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006281	DNA repair	TAS	biological process
GO:0006289	nucleotide-excision repair	IDA	biological process
GO:0006289	nucleotide-excision repair	IDA	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006298	mismatch repair	IBA	biological process
GO:0010224	response to UV-B	IEA	biological process
GO:0010996	response to auditory stimulus	IEA	biological process
GO:0016925	protein sumoylation	TAS	biological process
GO:0031573	intra-S DNA damage checkpoint	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070911	global genome nucleotide-excision repair	TAS	biological process
GO:0070914	UV-damage excision repair	IDA	biological process
GO:0071942	XPC complex	IDA	cellular component
GO:1901990	regulation of mitotic cell cycle phase transition	IMP	biological process
GO:0000111	nucleotide-excision repair factor 2 complex	IBA	cellular component
GO:0000404	heteroduplex DNA loop binding	TAS	molecular function
GO:0000405	bubble DNA binding	TAS	molecular function
GO:0000715	nucleotide-excision repair, DNA damage recognition	IDA	biological process
GO:0000715	nucleotide-excision repair, DNA damage recognition	IDA	biological process
GO:0000715	nucleotide-excision repair, DNA damage recognition	TAS	biological process
GO:0000717	nucleotide-excision repair, DNA duplex unwinding	TAS	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003684	damaged DNA binding	IEA	molecular function
GO:0003684	damaged DNA binding	IDA	molecular function
GO:0003684	damaged DNA binding	TAS	molecular function
GO:0003684	damaged DNA binding	IDA	molecular function
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0003697	single-stranded DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006281	DNA repair	TAS	biological process
GO:0006289	nucleotide-excision repair	IEA	biological process
GO:0006289	nucleotide-excision repair	IEA	biological process
GO:0006289	nucleotide-excision repair	TAS	biological process
GO:0006289	nucleotide-excision repair	IDA	biological process
GO:0006289	nucleotide-excision repair	IDA	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006298	mismatch repair	IBA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0010224	response to UV-B	IEA	biological process
GO:0010996	response to auditory stimulus	IEA	biological process
GO:0016925	protein sumoylation	TAS	biological process
GO:0031573	intra-S DNA damage checkpoint	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070911	global genome nucleotide-excision repair	TAS	biological process
GO:0070914	UV-damage excision repair	IDA	biological process
GO:0071942	XPC complex	IDA	cellular component
GO:1901990	regulation of mitotic cell cycle phase transition	IMP	biological process
GO:0000111	nucleotide-excision repair factor 2 complex	IBA	cellular component
GO:0000404	heteroduplex DNA loop binding	TAS	molecular function
GO:0000405	bubble DNA binding	TAS	molecular function
GO:0000715	nucleotide-excision repair, DNA damage recognition	IDA	biological process
GO:0000715	nucleotide-excision repair, DNA damage recognition	IDA	biological process
GO:0000715	nucleotide-excision repair, DNA damage recognition	TAS	biological process
GO:0000717	nucleotide-excision repair, DNA duplex unwinding	TAS	biological process
GO:0003684	damaged DNA binding	IDA	molecular function
GO:0003684	damaged DNA binding	TAS	molecular function
GO:0003684	damaged DNA binding	IDA	molecular function
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0003697	single-stranded DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006281	DNA repair	TAS	biological process
GO:0006289	nucleotide-excision repair	TAS	biological process
GO:0006289	nucleotide-excision repair	IDA	biological process
GO:0006289	nucleotide-excision repair	IDA	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006298	mismatch repair	IBA	biological process
GO:0016925	protein sumoylation	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070911	global genome nucleotide-excision repair	TAS	biological process
GO:0070914	UV-damage excision repair	IDA	biological process
GO:0071942	XPC complex	IDA	cellular component
GO:1901990	regulation of mitotic cell cycle phase transition	IMP	biological process

Diseases

Associated diseases	References
Cancer	GAD: 18196582
Cancer (Adenocarcinoma)	GAD: 18544627
Cancer (bladder)	GAD: 15886698
Cancer (esophageal)	GAD: 15878910
Cancer (gastric)	GAD: 16965652
Cancer (head and neck)	GAD: 20429839
Cancer (Hepatocellular)	GAD: 20193233
Cancer (kidney)	GAD: 16510122
Cancer (laryngeal)	GAD: 19444904
Cancer (leukemia)	GAD: 19074885
Cancer (lung)	GAD: 14690560
Cancer (lymphoma)	GAD: 18830263
Cancer (melanoma)	GAD: 15731165
Cancer (non-melanoma skin cancer)	GAD: 15863269
Cancer (oral premalignant lesions)	GAD: 17575242
Cancer (oral)	GAD: 16373199
Cancer (ovarian)	GAD: 17825393
Cancer (pancreatic)	GAD: 17086695
Cancer (prostate)	GAD: 17196815
Cancer (Renal cell)	GAD: 17712032
Cancer (Squamous cell)	GAD: 17653764
Cancer (transitional cell)	GAD: 18320070
Cancer (brain)	GAD: 20150366
Cancer (cervical)	GAD: 20377134
Cancer (breast)	GAD: 16002061
Cancer (colorectal)	GAD: 16492920
Cancer (endometrial)	GAD: 16284373
Xeroderma pigmentosum	KEGG: H01428
Hodgkin disease	GAD: 19280628
Multiple sclerosis	GAD: 20522537
Bone diseases	GAD: 19434073
Chronic renal failure	GAD: 21085059
Azoospermia	MIK: 18067564
Male factor infertility	MIK: 20369554
Oligozoospermia	MIK: 18067564
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Disorders of nucleotide excision repair	KEGG: H00403
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Idiopathic azoospermia or oligozoospermia	MIK: 18067564
Male infertility	MIK: 20369554

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20369554	Male infertility	Ala499Val (C > T) and Lys939Gln (A > C) of the XPC gene	Chinese Han	546 (318 infertile patients and 228 fertile male controls)	Male infertility
18067564	Idiopathic azoospermia or oligozoospermia	Ala499Val (C>T) and Lys939Gln (A>C) polymorphism of XPC gene	Chinese	480 (172 patients of azoospermia, 25 patients of severe oligozoospermia, 55 patients of oligozoospermia, 228 fertile men)	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq