• Gene id: 2073

Gene Summary

• Gene Symbol: ERCC5   Gene   UCSC   Ensembl
• Aliases: COFS3, ERCC5-201, ERCM2, UVDR, XPG, XPGC
• Gene name: ERCC excision repair 5, endonuclease
• Alternate names: DNA repair protein complementing XP-G cells, DNA excision repair protein ERCC-5, XPG-complementing protein, excision repair cross-complementation group 5, excision repair cross-complementing rodent repair deficiency, complementation group 5, xeroderma pigmento,
• Gene location: 13q33.1 (166999316: 167052717)     Exons: 13     NC_000006.12
• Gene summary(Entrez): This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcript
• OMIM: 133530

Protein Summary

• Protein general information: P28715  
  • Name: DNA repair protein complementing XP G cells (EC 3.1. . ) (DNA excision repair protein ERCC 5) (Xeroderma pigmentosum group G complementing protein)
  • Length: 1186  
  • Mass: 133108
• Sequence:

  MGVQGLWKLLECSGRQVSPEALEGKILAVDISIWLNQALKGVRDRHGNSIENPHLLTLFHRLCKLLFFRIRPIFV
  FDGDAPLLKKQTLVKRRQRKDLASSDSRKTTEKLLKTFLKRQAIKTAFRSKRDEALPSLTQVRRENDLYVLPPLQ
  EEEKHSSEEEDEKEWQERMNQKQALQEEFFHNPQAIDIESEDFSSLPPEVKHEILTDMKEFTKRRRTLFEAMPEE
  SDDFSQYQLKGLLKKNYLNQHIEHVQKEMNQQHSGHIRRQYEDEGGFLKEVESRRVVSEDTSHYILIKGIQAKTV
  AEVDSESLPSSSKMHGMSFDVKSSPCEKLKTEKEPDATPPSPRTLLAMQAALLGSSSEEELESENRRQARGRNAP
  AAVDEGSISPRTLSAIKRALDDDEDVKVCAGDDVQTGGPGAEEMRINSSTENSDEGLKVRDGKGIPFTATLASSS
  VNSAEEHVASTNEGREPTDSVPKEQMSLVHVGTEAFPISDESMIKDRKDRLPLESAVVRHSDAPGLPNGRELTPA
  SPTCTNSVSKNETHAEVLEQQNELCPYESKFDSSLLSSDDETKCKPNSASEVIGPVSLQETSSIVSVPSEAVDNV
  ENVVSFNAKEHENFLETIQEQQTTESAGQDLISIPKAVEPMEIDSEESESDGSFIEVQSVISDEELQAEFPETSK
  PPSEQGEEELVGTREGEAPAESESLLRDNSERDDVDGEPQEAEKDAEDSLHEWQDINLEELETLESNLLAQQNSL
  KAQKQQQERIAATVTGQMFLESQELLRLFGIPYIQAPMEAEAQCAILDLTDQTSGTITDDSDIWLFGARHVYRNF
  FNKNKFVEYYQYVDFHNQLGLDRNKLINLAYLLGSDYTEGIPTVGCVTAMEILNEFPGHGLEPLLKFSEWWHEAQ
  KNPKIRPNPHDTKVKKKLRTLQLTPGFPNPAVAEAYLKPVVDDSKGSFLWGKPDLDKIREFCQRYFGWNRTKTDE
  SLFPVLKQLDAQQTQLRIDSFFRLAQQEKEDAKRIKSQRLNRAVTCMLRKEKEAAASEIEAVSVAMEKEFELLDK
  AKGKTQKRGITNTLEESSSLKRKRLSDSKGKNTCGGFLGETCLSESSDGSSSEDAESSSLMNVQRRTAAKEPKTS
  ASDSQNSVKEAPVKNGGATTSSSSDSDDDGGKEKMVLVTARSVFGKKRRKLRRARGRKRKT

• Structural information:
  • Interpro: IPR036279  IPR008918  IPR029060  IPR006086  IPR006084   IPR001044  IPR019974  IPR006085  
  • Prosite: PS00841 PS00842
  • PDB: 5EKF 5EKG
  • PDBsum: 5EKF 5EKG
  • DIP: 750
  • STRING: ENSP00000347978
• Other Databases: GeneCards:  ERCC5  Malacards:  ERCC5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006295	nucleotide-excision repair, DNA incision, 3'-to lesion	IBA	biological process
GO:0004520	endodeoxyribonuclease activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003697	single-stranded DNA binding	IBA	molecular function
GO:0005662	DNA replication factor A complex	IDA	colocalizes with
GO:0004518	nuclease activity	IEA	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0006289	nucleotide-excision repair	IEA	biological process
GO:0016788	hydrolase activity, acting on ester bonds	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003697	single-stranded DNA binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0009650	UV protection	IGI	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0033683	nucleotide-excision repair, DNA incision	TAS	biological process
GO:0004520	endodeoxyribonuclease activity	TAS	molecular function
GO:0004520	endodeoxyribonuclease activity	TAS	molecular function
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:0006293	nucleotide-excision repair, preincision complex stabilization	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006295	nucleotide-excision repair, DNA incision, 3'-to lesion	TAS	biological process
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006289	nucleotide-excision repair	IDA	biological process
GO:0000109	nucleotide-excision repair complex	IDA	cellular component
GO:0006295	nucleotide-excision repair, DNA incision, 3'-to lesion	IDA	biological process
GO:0004520	endodeoxyribonuclease activity	IDA	molecular function
GO:0004520	endodeoxyribonuclease activity	IDA	molecular function
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0000405	bubble DNA binding	IDA	molecular function
GO:0009411	response to UV	IDA	biological process
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0000993	RNA polymerase II complex binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0010225	response to UV-C	IMP	biological process
GO:0006295	nucleotide-excision repair, DNA incision, 3'-to lesion	IMP	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	IMP	biological process
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:0047485	protein N-terminus binding	IPI	molecular function
GO:0009411	response to UV	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03420	Nucleotide excision repair

Diseases

Associated diseases	References
Disorders of nucleotide excision repair	KEGG:H00403
Xeroderma pigmentosum	KEGG:H01428
Disorders of nucleotide excision repair	KEGG:H00403
Xeroderma pigmentosum	KEGG:H01428
Melanoma	PMID:21390047
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R