• Gene id: 2067

Gene Summary

• Gene Symbol: ERCC1   Gene   UCSC   Ensembl
• Aliases: COFS4, RAD10, UV20
• Gene name: ERCC excision repair 1, endonuclease non-catalytic subunit
• Alternate names: DNA excision repair protein ERCC-1, excision repair cross-complementation group 1, excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence),
• Gene location: 19q13.32 (45478865: 45407332)     Exons: 14     NC_000019.10
• Gene summary(Entrez): The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer
• OMIM: 126380

Protein Summary

• Protein general information: P07992  
  • Name: DNA excision repair protein ERCC 1
  • Length: 297  
  • Mass: 32,562
• Sequence:

  MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTYAEYAISQPLEGAGAT
  CPTGSEPLAGETPNQALKPGAKSNSIIVSPRQRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALFLSLRYHNLHP
  DYIHGRLQSLGKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWSPEEAGRYLETYKAYEQKPADLLME
  KLEQDFVSRVTECLTTVKSVNKTDSQTLLTTFGSLEQLIAASREDLALCPGLGPQKARRLFDVLHEPFLKVP

• Structural information:
  • Interpro: IPR004579  IPR011335  IPR010994  
  • PDB: 1Z00 2A1I 2A1J 2JNW 2JPD 2MUT
  • PDBsum: 1Z00 2A1I 2A1J 2JNW 2JPD 2MUT
  • DIP: 24235
  • STRING: ENSP00000013807
• Other Databases: GeneCards:  ERCC1  Malacards:  ERCC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000109	nucleotide-excision repair complex	IDA	cellular component
GO:0000109	nucleotide-excision repair complex	IDA	cellular component
GO:0000109	nucleotide-excision repair complex	IDA	cellular component
GO:0000110	nucleotide-excision repair factor 1 complex	IDA	cellular component
GO:0000720	pyrimidine dimer repair by nucleotide-excision repair	IEA	biological process
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0001094	TFIID-class transcription factor binding	IEA	molecular function
GO:0001302	replicative cell aging	IEA	biological process
GO:0003684	damaged DNA binding	IDA	molecular function
GO:0003697	single-stranded 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: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:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	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:0005654	nucleoplasm	TAS	cellular component
GO:0005669	transcription factor TFIID complex	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006281	DNA repair	IMP	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0006289	nucleotide-excision repair	IGI	biological process
GO:0006289	nucleotide-excision repair	IDA	biological process
GO:0006293	nucleotide-excision repair, preincision complex stabilization	TAS	biological process
GO:0006295	nucleotide-excision repair, DNA incision, 3'-to lesion	IMP	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	IMP	biological process
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	TAS	biological process
GO:0006302	double-strand break repair	IEA	biological process
GO:0006310	DNA recombination	IGI	biological process
GO:0006312	mitotic recombination	IMP	biological process
GO:0006949	syncytium formation	IEA	biological process
GO:0006979	response to oxidative stress	IMP	biological process
GO:0006979	response to oxidative stress	IMP	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0008283	cell proliferation	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0009650	UV protection	IEA	biological process
GO:0009744	response to sucrose	IEA	biological process
GO:0010165	response to X-ray	IEA	biological process
GO:0010259	multicellular organism aging	IEA	biological process
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0032205	negative regulation of telomere maintenance	IMP	biological process
GO:0033683	nucleotide-excision repair, DNA incision	TAS	biological process
GO:0035166	post-embryonic hemopoiesis	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0036297	interstrand cross-link repair	TAS	biological process
GO:0045190	isotype switching	IEA	biological process
GO:0048477	oogenesis	IEA	biological process
GO:0048568	embryonic organ development	IEA	biological process
GO:0070522	ERCC4-ERCC1 complex	IDA	cellular component
GO:0070911	global genome nucleotide-excision repair	TAS	biological process
GO:0090656	t-circle formation	ISS	biological process
GO:1904431	positive regulation of t-circle formation	ISS	biological process
GO:0000014	single-stranded DNA endodeoxyribonuclease activity	IDA	molecular function
GO:0043566	structure-specific DNA binding	IDA	molecular function
GO:0000109	nucleotide-excision repair complex	IDA	cellular component
GO:0000109	nucleotide-excision repair complex	IDA	cellular component
GO:0000109	nucleotide-excision repair complex	IDA	cellular component
GO:0000110	nucleotide-excision repair factor 1 complex	IDA	cellular component
GO:0000720	pyrimidine dimer repair by nucleotide-excision repair	IEA	biological process
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0001094	TFIID-class transcription factor binding	IEA	molecular function
GO:0001302	replicative cell aging	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003684	damaged DNA binding	IEA	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	IDA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0004519	endonuclease activity	IEA	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: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:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	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:0005654	nucleoplasm	TAS	cellular component
GO:0005669	transcription factor TFIID complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006281	DNA repair	IMP	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0006289	nucleotide-excision repair	IEA	biological process
GO:0006289	nucleotide-excision repair	IGI	biological process
GO:0006289	nucleotide-excision repair	IDA	biological process
GO:0006293	nucleotide-excision repair, preincision complex stabilization	TAS	biological process
GO:0006295	nucleotide-excision repair, DNA incision, 3'-to lesion	IMP	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	IMP	biological process
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	TAS	biological process
GO:0006302	double-strand break repair	IEA	biological process
GO:0006310	DNA recombination	IEA	biological process
GO:0006310	DNA recombination	IGI	biological process
GO:0006312	mitotic recombination	IMP	biological process
GO:0006949	syncytium formation	IEA	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:0006979	response to oxidative stress	IMP	biological process
GO:0006979	response to oxidative stress	IMP	biological process
GO:0007281	germ cell development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0008283	cell proliferation	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0009650	UV protection	IEA	biological process
GO:0009744	response to sucrose	IEA	biological process
GO:0010165	response to X-ray	IEA	biological process
GO:0010259	multicellular organism aging	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0032205	negative regulation of telomere maintenance	IMP	biological process
GO:0033683	nucleotide-excision repair, DNA incision	TAS	biological process
GO:0035166	post-embryonic hemopoiesis	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0036297	interstrand cross-link repair	IEA	biological process
GO:0036297	interstrand cross-link repair	TAS	biological process
GO:0045190	isotype switching	IEA	biological process
GO:0048468	cell development	IEA	biological process
GO:0048477	oogenesis	IEA	biological process
GO:0048568	embryonic organ development	IEA	biological process
GO:0051276	chromosome organization	IEA	biological process
GO:0070522	ERCC4-ERCC1 complex	IDA	cellular component
GO:0070911	global genome nucleotide-excision repair	TAS	biological process
GO:0090656	t-circle formation	IEA	biological process
GO:0090656	t-circle formation	ISS	biological process
GO:1904431	positive regulation of t-circle formation	IEA	biological process
GO:1904431	positive regulation of t-circle formation	ISS	biological process
GO:0000014	single-stranded DNA endodeoxyribonuclease activity	IDA	molecular function
GO:0043566	structure-specific DNA binding	IDA	molecular function
GO:0000109	nucleotide-excision repair complex	IDA	cellular component
GO:0000109	nucleotide-excision repair complex	IDA	cellular component
GO:0000109	nucleotide-excision repair complex	IDA	cellular component
GO:0000110	nucleotide-excision repair factor 1 complex	IDA	cellular component
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0003684	damaged DNA binding	IDA	molecular function
GO:0003697	single-stranded 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: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:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	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:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006281	DNA repair	IMP	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0006289	nucleotide-excision repair	IGI	biological process
GO:0006289	nucleotide-excision repair	IDA	biological process
GO:0006293	nucleotide-excision repair, preincision complex stabilization	TAS	biological process
GO:0006295	nucleotide-excision repair, DNA incision, 3'-to lesion	IMP	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	IMP	biological process
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	TAS	biological process
GO:0006310	DNA recombination	IGI	biological process
GO:0006312	mitotic recombination	IMP	biological process
GO:0006979	response to oxidative stress	IMP	biological process
GO:0006979	response to oxidative stress	IMP	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0032205	negative regulation of telomere maintenance	IMP	biological process
GO:0033683	nucleotide-excision repair, DNA incision	TAS	biological process
GO:0036297	interstrand cross-link repair	TAS	biological process
GO:0070522	ERCC4-ERCC1 complex	IDA	cellular component
GO:0070911	global genome nucleotide-excision repair	TAS	biological process
GO:0090656	t-circle formation	ISS	biological process
GO:1904431	positive regulation of t-circle formation	ISS	biological process
GO:0000014	single-stranded DNA endodeoxyribonuclease activity	IDA	molecular function
GO:0043566	structure-specific DNA binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04064	NF-kappa B signaling pathway
hsa01524	Platinum drug resistance

Diseases

Associated diseases	References
Cancer (Adenocarcinoma)	GAD: 19332728
Cancer (Biliary tract neoplasms)	GAD: 19443413
Cancer (colorectal)	GAD: 12865926
Cancer (endometrial)	GAD: 16284373
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (esophageal)	GAD: 19339270
Cancer (gastric)	GAD: 19822419
Cancer (glioma)	GAD: 16212814
Cancer (head and neck)	GAD: 20429839
Cancer (kidney)	GAD: 16510122
Cancer (laryngeal)	GAD: 19444904
Cancer (nasopharyngeal)	GAD: 18615480
Cancer (non-melanoma skin cancer)	GAD: 15936590
Cancer (oral)	GAD: 16393248
Cancer (ovarian)	GAD: 16819291
Cancer (prostate)	GAD: 18026184
Cancer (rectal)	GAD: 20504250
Cancer (Squamous cell)	GAD: 20128036
Cancer (stomach)	GAD: 17617021
Cancer (testicular)	GAD: 15885892
Cancer	GAD: 20047592
Cancer (bladder)	GAD: 16537713
Cancer (brain)	GAD: 19124499
Cancer (leukemia)	GAD: 16314400
Cancer (lung)	GAD: 12234692
Cancer (lymphoma)	GAD: 18830263
Cancer (melanoma)	GAD: 15709194
Cancer (myeloma)	GAD: 17131345
Cancer (breast)	GAD: 15958648
Neutropenia	GAD: 19074750
Hodgkin disease	GAD: 19573080
Multiple sclerosis	GAD: 20522537
Bone diseases	GAD: 19434073
Peripheral nervous system diseases	GAD: 20979931
Chronic renal failure	GAD: 21085059
Male factor infertility	MIK: 18616887
Azoospermia	MIK: 18616887
Azoospermia	GAD: 18616887
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Cerebrooculo facioskeletal syndrome	OMIM: 126380
Disorders of nucleotide excision repair	KEGG: H00403
Cryptorchidism	MIK: 28606200
Idiopathic azoospermia	MIK: 18616887
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
18616887	Idiopathic azoospermia	ERCC1 polymorphisms 3 UTR (C8092A), Asn118Asn (G19007A), ERCC2 polymorphisms Asp312Asn (G-->A), Lys751Gln (A-->C)	Chinese	389 (202 infertile patients with idiopathic azoospermia, 187 fertile controls)	Male infertilityz	ERCC1 ERCC2
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq