• Gene id: 2072

Gene Summary

• Gene Symbol: ERCC4   Gene   UCSC   Ensembl
• Aliases: ERCC11, FANCQ, RAD1, XFEPS, XPF
• Gene name: ERCC excision repair 4, endonuclease catalytic subunit
• Alternate names: DNA repair endonuclease XPF, DNA excision repair protein ERCC-4, DNA repair protein complementing XP-F cells, excision repair cross-complementation group 4, excision repair cross-complementing rodent repair deficiency, complementation group 4, excision-repair,,
• Gene location: 16p13.12 (13920136: 13952347)     Exons: 13     NC_000016.10
• Gene summary(Entrez): The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause
• OMIM: 133520

Protein Summary

• Protein general information: Q92889  
  • Name: DNA repair endonuclease XPF (EC 3.1. . ) (DNA excision repair protein ERCC 4) (DNA repair protein complementing XP F cells) (Xeroderma pigmentosum group F complementing protein)
  • Length: 916  
  • Mass: 104486
• Sequence:

  MESGQPARRIAMAPLLEYERQLVLELLDTDGLVVCARGLGADRLLYHFLQLHCHPACLVLVLNTQPAEEEYFINQ
  LKIEGVEHLPRRVTNEITSNSRYEVYTQGGVIFATSRILVVDFLTDRIPSDLITGILVYRAHRIIESCQEAFILR
  LFRQKNKRGFIKAFTDNAVAFDTGFCHVERVMRNLFVRKLYLWPRFHVAVNSFLEQHKPEVVEIHVSMTPTMLAI
  QTAILDILNACLKELKCHNPSLEVEDLSLENAIGKPFDKTIRHYLDPLWHQLGAKTKSLVQDLKILRTLLQYLSQ
  YDCVTFLNLLESLRATEKAFGQNSGWLFLDSSTSMFINARARVYHLPDAKMSKKEKISEKMEIKEGEETKKELVL
  ESNPKWEALTEVLKEIEAENKESEALGGPGQVLICASDDRTCSQLRDYITLGAEAFLLRLYRKTFEKDSKAEEVW
  MKFRKEDSSKRIRKSHKRPKDPQNKERASTKERTLKKKKRKLTLTQMVGKPEELEEEGDVEEGYRREISSSPESC
  PEEIKHEEFDVNLSSDAAFGILKEPLTIIHPLLGCSDPYALTRVLHEVEPRYVVLYDAELTFVRQLEIYRASRPG
  KPLRVYFLIYGGSTEEQRYLTALRKEKEAFEKLIREKASMVVPEEREGRDETNLDLVRGTASADVSTDTRKAGGQ
  EQNGTQQSIVVDMREFRSELPSLIHRRGIDIEPVTLEVGDYILTPEMCVERKSISDLIGSLNNGRLYSQCISMSR
  YYKRPVLLIEFDPSKPFSLTSRGALFQEISSNDISSKLTLLTLHFPRLRILWCPSPHATAELFEELKQSKPQPDA
  ATALAITADSETLPESEKYNPGPQDFLLKMPGVNAKNCRSLMHHVKNIAELAALSQDELTSILGNAANAKQLYDF
  IHTSFAEVVSKGKGKK

• Structural information:
  • Protein Domains: (683..76-)
    (/note="ERCC4"-)
  • Interpro: IPR006166  IPR011335  IPR010994  IPR006167  
  • PDB: 1Z00 2A1J 2AQ0 2KN7 2MUT
  • PDBsum: 1Z00 2A1J 2AQ0 2KN7 2MUT
  • DIP: 42006
  • STRING: ENSP00000310520
• Other Databases: GeneCards:  ERCC4  Malacards:  ERCC4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	IBA	biological process
GO:1901255	nucleotide-excision repair involved in interstrand cross-link repair	IBA	biological process
GO:0003697	single-stranded DNA binding	IBA	molecular function
GO:0003684	damaged DNA binding	IBA	molecular function
GO:0000724	double-strand break repair via homologous recombination	IBA	biological process
GO:0000712	resolution of meiotic recombination intermediates	IBA	biological process
GO:0000110	nucleotide-excision repair factor 1 complex	IBA	cellular component
GO:0000014	single-stranded DNA endodeoxyribonuclease activity	IBA	molecular function
GO:0006281	DNA 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:0004518	nuclease activity	IEA	molecular function
GO:0004520	endodeoxyribonuclease activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003697	single-stranded DNA binding	IEA	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006289	nucleotide-excision repair	IDA	biological process
GO:0000109	nucleotide-excision repair complex	IDA	cellular component
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0033683	nucleotide-excision repair, DNA incision	TAS	biological process
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:0006293	nucleotide-excision repair, preincision complex stabilization	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:0036297	interstrand cross-link repair	TAS	biological process
GO:0070911	global genome nucleotide-excision repair	TAS	biological process
GO:0042802	identical 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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0009650	UV protection	IEA	biological process
GO:0010506	regulation of autophagy	IEA	biological process
GO:1990841	promoter-specific chromatin binding	IEA	molecular function
GO:0001094	TFIID-class transcription factor complex binding	IEA	molecular function
GO:0070522	ERCC4-ERCC1 complex	IDA	cellular component
GO:0004520	endodeoxyribonuclease activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000723	telomere maintenance	IGI	biological process
GO:0006281	DNA repair	IGI	biological process
GO:0034644	cellular response to UV	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000781	chromosome, telomeric region	IDA	cellular component
GO:1990599	3' overhang single-stranded DNA endodeoxyribonuclease activity	IMP	contributes to
GO:0000723	telomere maintenance	IMP	biological process
GO:0010521	telomerase inhibitor activity	IDA	NOT|molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1904357	negative regulation of telomere maintenance via telomere lengthening	IDA	biological process
GO:1905768	negative regulation of double-stranded telomeric DNA binding	IDA	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	IMP	biological process
GO:0070522	ERCC4-ERCC1 complex	IDA	cellular component
GO:0051974	negative regulation of telomerase activity	IDA	NOT|biological process
GO:1905765	negative regulation of protection from non-homologous end joining at telomere	IMP	biological process
GO:0061819	telomeric DNA-containing double minutes formation	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0051974	negative regulation of telomerase activity	IEA	biological process
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0003677	DNA binding	IDA	contributes to
GO:0033683	nucleotide-excision repair, DNA incision	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003697	single-stranded DNA binding	IDA	molecular function
GO:0000110	nucleotide-excision repair factor 1 complex	IDA	cellular component
GO:0004520	endodeoxyribonuclease activity	IDA	molecular function
GO:0004520	endodeoxyribonuclease activity	IDA	molecular function
GO:0004520	endodeoxyribonuclease activity	IDA	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	IMP	biological process
GO:0006289	nucleotide-excision repair	IMP	biological process
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0032205	negative regulation of telomere maintenance	IMP	biological process
GO:0009411	response to UV	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003684	damaged DNA binding	IMP	molecular function
GO:0000724	double-strand break repair via homologous recombination	IMP	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	IMP	biological process
GO:0006295	nucleotide-excision repair, DNA incision, 3'-to lesion	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa03460	Fanconi anemia pathway
hsa03420	Nucleotide excision repair

Diseases

Associated diseases	References
Fanconi anemia	KEGG:H00238
Disorders of nucleotide excision repair	KEGG:H00403
Xeroderma pigmentosum	KEGG:H01428
Fanconi anemia	KEGG:H00238
Disorders of nucleotide excision repair	KEGG:H00403
Xeroderma pigmentosum	KEGG:H01428
Xeroderma pigmentosum	PMID:8797827
pancreatic cancer	PMID:18544627
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881