Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2073
Gene name	ERCC excision repair 5, endonuclease
Gene symbol	ERCC5
Synonyms (NCBI Gene)	COFS3ERCC5-201ERCM2UVDRXPGXPGC
Chromosome	13
Chromosome location	13q33.1
Summary	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

Show/Hide all (20)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022203	hsa-miR-124-3p	Microarray	18668037
MIRT968512	hsa-miR-1185	CLIP-seq
MIRT968513	hsa-miR-1273c	CLIP-seq
MIRT968514	hsa-miR-3125	CLIP-seq
MIRT968515	hsa-miR-3129-3p	CLIP-seq
MIRT968516	hsa-miR-3679-5p	CLIP-seq
MIRT968517	hsa-miR-3683	CLIP-seq
MIRT968518	hsa-miR-3916	CLIP-seq
MIRT968519	hsa-miR-3976	CLIP-seq
MIRT968520	hsa-miR-450a	CLIP-seq
MIRT968521	hsa-miR-4687-3p	CLIP-seq
MIRT968522	hsa-miR-4760-3p	CLIP-seq
MIRT968523	hsa-miR-4775	CLIP-seq
MIRT968524	hsa-miR-520d-5p	CLIP-seq
MIRT968525	hsa-miR-524-5p	CLIP-seq
MIRT968526	hsa-miR-556-3p	CLIP-seq
MIRT968527	hsa-miR-590-3p	CLIP-seq
MIRT968528	hsa-miR-664	CLIP-seq
MIRT968529	hsa-miR-877	CLIP-seq
MIRT968530	hsa-miR-944	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
E2F1	Activation	17893230
YY1	Activation	17893230

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000109	Component	Nucleotide-excision repair complex	IDA	11259578
GO:0000405	Function	Bubble DNA binding	IDA	16246722, 32821917
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	26833090
GO:0000993	Function	RNA polymerase II complex binding	IDA	16246722
GO:0003677	Function	DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	IDA	32821917
GO:0003690	Function	Double-stranded DNA binding	IDA	8090225, 12644470
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0003697	Function	Single-stranded DNA binding	IDA	12644470
GO:0003697	Function	Single-stranded DNA binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IDA	32522879, 32821917
GO:0004519	Function	Endonuclease activity	IEA
GO:0004520	Function	DNA endonuclease activity	IBA
GO:0004520	Function	DNA endonuclease activity	IDA	8090225, 12644470
GO:0004520	Function	DNA endonuclease activity	IEA
GO:0004520	Function	DNA endonuclease activity	TAS
GO:0005515	Function	Protein binding	IPI	8652557, 9305916, 9927729, 15358233, 16246722, 17268471, 26833090, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	8710877, 26833090
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005662	Component	DNA replication factor A complex	IDA	7700386
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IMP	16246722
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	TAS
GO:0006285	Process	Base-excision repair, AP site formation	IDA	9927729
GO:0006289	Process	Nucleotide-excision repair	IDA	8090225, 11259578, 32522879, 32821917
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006289	Process	Nucleotide-excision repair	IMP	7657672
GO:0006289	Process	Nucleotide-excision repair	TAS
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0008047	Function	Enzyme activator activity	IDA	9927729
GO:0009411	Process	Response to UV	IDA	8710877
GO:0009411	Process	Response to UV	IEA
GO:0009411	Process	Response to UV	IMP	16167068
GO:0010225	Process	Response to UV-C	IMP	17208056
GO:0016787	Function	Hydrolase activity	IEA
GO:0016788	Function	Hydrolase activity, acting on ester bonds	IEA
GO:0032991	Component	Protein-containing complex	IDA	26833090
GO:0042803	Function	Protein homodimerization activity	IPI	10026181
GO:0043066	Process	Negative regulation of apoptotic process	IMP	16167068
GO:0044877	Function	Protein-containing complex binding	IDA	11259578
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
133530	3437	ENSG00000134899

P28715

Protein name

DNA excision repair protein ERCC-5 (EC 3.1.-.-) (DNA repair protein complementing XP-G cells) (XPG) (Xeroderma pigmentosum group G-complementing protein)

Protein function

Single-stranded structure-specific DNA endonuclease involved in DNA excision repair (PubMed:32522879, PubMed:32821917, PubMed:7651464, PubMed:8078765, PubMed:8090225, PubMed:8206890). Makes the 3'incision in DNA nucleotide excision repair (NER)

PDB

5EKF , 5EKG , 6TUR , 6TUS , 6TUW , 6TUX , 6VBH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00752	XPG_N	1 → 98	XPG N-terminal domain	Family
PF00867	XPG_I	777 → 861	XPG I-region	Family

Sequence

MGVQGLWKLLECSGRQVSPEALEGKILAVDISIWLNQALKGVRDRHGNSIENPHLLTLFH
RLCKLLFFRIRPIFVFDGDAPLLKKQTLVKRRQRKDLASSDSRKTTEKLLKTFLKRQAIK
TAFRSKRDEALPSLTQVRRENDLYVLPPLQEEEKHSSEEEDEKEWQERMNQKQALQEEFF
HNPQAIDIESEDFSSLPPEVKHEILTDMKEFTKRRRTLFEAMPEESDDFSQYQLKGLLKK
NYLNQHIEHVQKEMNQQHSGHIRRQYEDEGGFLKEVESRRVVSEDTSHYILIKGIQAKTV
AEVDSESLPSSSKMHGMSFDVKSSPCEKLKTEKEPDATPPSPRTLLAMQAALLGSSSEEE
LESENRRQARGRNAPAAVDEGSISPRTLSAIKRALDDDEDVKVCAGDDVQTGGPGAEEMR
INSSTENSDEGLKVRDGKGIPFTATLASSSVNSAEEHVASTNEGREPTDSVPKEQMSLVH
VGTEAFPISDESMIKDRKDRLPLESAVVRHSDAPGLPNGRELTPASPTCTNSVSKNETHA
EVLEQQNELCPYESKFDSSLLSSDDETKCKPNSASEVIGPVSLQETSSIVSVPSEAVDNV
ENVVSFNAKEHENFLETIQEQQTTESAGQDLISIPKAVEPMEIDSEESESDGSFIEVQSV
ISDEELQAEFPETSKPPSEQGEEELVGTREGEAPAESESLLRDNSERDDVDGEPQEAEKD
AEDSLHEWQDINLEELETLESNLLAQQNSLKAQKQQQERIAATVTGQMFLESQELLRLFG
IPYIQAPMEAEAQCAILDLTDQTSGTITDDSDIWLFGARHVYRNFFNKNKFVEYYQYVDF
HNQLGLDRNKLINLAYLLGSDYTEGIPTVGCVTAMEILNEFPGHGLEPLLKFSEWWHEAQ
KNPKIRPNPHDTKVKKKLRTLQLTPGFPNPAVAEAYLKPVVDDSKGSFLWGKPDLDKIRE
FCQRYFGWNRTKTDESLFPVLKQLDAQQTQLRIDSFFRLAQQEKEDAKRIKSQRLNRAVT
CMLRKEKEAAASEIEAVSVAMEKEFELLDKAKGKTQKRGITNTLEESSSLKRKRLSDSKG
KNTCGGFLGETCLSESSDGSSSEDAESSSLMNVQRRTAAKEPKTSASDSQNSVKEAPVKN
GGATTSSSSDSDDDGGKEKMVLVTARSVFGKKRRKLRRARGRKRKT

Sequence length

1186

Interactions

View interactions

	KEGG		Reactome
	Nucleotide excision repair		Formation of Incision Complex in GG-NER Dual Incision in GG-NER Dual incision in TC-NER

280

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebrooculofacioskeletal syndrome 3	Pathogenic; Likely pathogenic	rs1882701423, rs1325131028, rs756420203, rs759551120, rs760232640, rs121434571, rs2140538834, rs786200919, rs752661599, rs2501542886, rs1283214655	RCV001329034 RCV001582367 RCV002503310 RCV006262010 RCV002308604 RCV000191920 RCV005007865 RCV000018036 RCV005003376 RCV005003377 RCV004544230 RCV005004270
ERCC5-related disorder	Pathogenic; Likely pathogenic	rs2501529754, rs2501534251	RCV003393208 RCV003901439
Hepatoblastoma	Likely pathogenic	rs2140527110	RCV001843893
Ovarian cancer	Likely pathogenic	rs1180157198, rs2501509040	RCV003154756 RCV003154765
See cases	Likely pathogenic; Pathogenic	rs759551120	RCV002252489
Xeroderma pigmentosum	Pathogenic; Likely pathogenic	rs779078202, rs1882806435, rs2501609479, rs121434570, rs121434571, rs752661599, rs1882232971, rs1283214655, rs1882641004, rs774078839	RCV001375592 RCV002266208 RCV002510315 RCV000587956 RCV005417434 RCV001194154 RCV004798985 RCV000605921 RCV001194153 RCV001291297
Xeroderma pigmentosum group G/Cockayne syndrome	Pathogenic	rs1882806435, rs121434572, rs121434573, rs121434574	RCV002266207 RCV000018038 RCV000018039 RCV000018040
Xeroderma pigmentosum, group G	Likely pathogenic; Pathogenic	rs1187206011, rs756420203, rs2501536677, rs2501534466, rs121434570, rs121434571, rs121434575, rs786200919, rs786200920, rs752661599, rs121434577, rs1882232971, rs2501609779, rs1283214655, rs267607281 View all (3 more)	RCV004818867 RCV002503310 RCV003326669 RCV003389364 RCV000018034 RCV000018035 RCV000018041 RCV000018042 RCV000018043 RCV000018044 RCV000018046 RCV003988755 RCV003991741 RCV005004270 RCV000034376 RCV000034377 RCV000625479 RCV000989158
Xeroderma pigmentosum-Cockayne syndrome complex	Pathogenic	rs1242579404	RCV000626179

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hereditary cancer-predisposing syndrome	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs764475818, rs142438319, rs574826021, rs4150388, rs2227871, rs4150387, rs368550097, rs193097418, rs56398372, rs143667470, rs754964853, rs769870058, rs983200101, rs56109743, rs1056247322 View all (44 more)	RCV002256893 RCV002256054 RCV002256055 RCV002256056 RCV002256057 RCV002257434 RCV002255297 RCV002257435 RCV002255298 RCV002256060 RCV002258323 RCV002259197 RCV002257085 RCV002258486 RCV002259198 RCV002255850 RCV002255252 RCV002257086 RCV002255851 RCV002257087 RCV002257088 RCV002259200 RCV002255852 RCV002255853 RCV002258487 RCV002258488 RCV002255854 RCV002258489 RCV002258490 RCV002255855 RCV002255856 RCV002257089 RCV002255857 RCV002257090 RCV002257091 RCV002257092 RCV002257093 RCV002258491 RCV002259201 RCV002255858 RCV002255345 RCV002256195 RCV002255358 RCV002256194 RCV002257634 RCV002255359 RCV002256197 RCV002257635 RCV002258871 RCV002256583 RCV002258031 RCV002259045 RCV002256597 RCV002255601 RCV002259081 RCV002256682 RCV002255621 RCV002256683 RCV002256729

Show/Hide Text Mining Associations (106)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	37006075
Blood Coagulation Disorders Inherited	Associate	29482223
Breast Neoplasms	Associate	18701435, 18767034, 21700777, 23330005, 23852586, 26045839, 35691022, 35763649, 40535424
Breast Neoplasms	Inhibit	23852586
Bronchitis Chronic	Associate	29506519
Carcinogenesis	Associate	26130668
Carcinoma Bronchogenic	Associate	16255782
Carcinoma Ductal Breast	Associate	39237917
Carcinoma Hepatocellular	Associate	26967386, 32812509
Carcinoma Merkel Cell	Associate	25531179
Carcinoma Non Small Cell Lung	Associate	19430706, 23118991, 23621222, 24615519, 24737519, 24782167, 25729984, 34050209, 35852645
Carcinoma Ovarian Epithelial	Associate	27966655
Carcinoma Squamous Cell	Associate	23335232, 25491297, 26130668
Cerebellar Ataxia	Associate	29482223
Cholangiocarcinoma	Associate	33200197
Chorea	Associate	38040034
Cockayne Syndrome	Associate	10026181, 10786832, 11443545, 11841555, 12060391, 12110180, 15572672, 16246722, 17466625, 21558802, 23330005, 23623389, 26149386, 27004399, 32522879 View all (5 more)
Cognition Disorders	Associate	30213196, 38040034
Colorectal Neoplasms	Associate	19458483, 19536092, 23626689, 25332048, 25355595, 25391773, 25835182, 26225711, 26887052, 27175691, 29568775, 30517302, 31988591, 33627384
Coronary Artery Disease	Associate	35934844
Death	Associate	16246722, 23407396, 23621222, 23886164
Depression Postpartum	Associate	21558802
Developmental Disabilities	Associate	32522879
Disease	Associate	25729984
Drug Related Side Effects and Adverse Reactions	Associate	21452186, 23118991
Dystonia	Associate	38040034
Endometrial Neoplasms	Associate	21750170
Ependymoma	Associate	27966655
Esophageal Neoplasms	Associate	28952217
Esophageal Squamous Cell Carcinoma	Associate	22848513, 36803971
Fanconi Anemia	Associate	24351291
Fibrosis	Associate	32812509
Gastritis Atrophic	Stimulate	25268735
Gastritis Atrophic	Associate	29434449
Gastrointestinal Neoplasms	Associate	40377615
Glioma	Associate	23534771
Hamartoma Syndrome Multiple	Associate	17466625, 23370536, 32522879
Hearing Loss Sensorineural	Associate	18567921
Heart Defects Congenital	Associate	26033827
Helicobacter Infections	Associate	23464443, 25268735, 27323183
Hereditary Breast and Ovarian Cancer Syndrome	Associate	30306255, 31882575, 35763649
Infarction Anterior Cerebral Artery	Associate	22277767
Infections	Associate	23118991
Laryngeal Neoplasms	Associate	24563277
Laryngitis	Associate	18567921
Leiomyoma	Associate	30139812
Leukemia Lymphoma Adult T Cell	Associate	33649200
Leukemia Myeloid Acute	Associate	26779634
Leukoplakia	Associate	31450912
Lichen Planus	Associate	31450912
Lung Neoplasms	Stimulate	18709642
Lung Neoplasms	Associate	18709642, 19887610, 20233728, 27235448, 28464886, 37006075
Lymphoma	Inhibit	25400036
Lymphoma	Associate	25400036
Lymphoma B Cell	Associate	23818366, 25400036
Lymphoma B Cell	Inhibit	25400036
Lymphoma Large B Cell Diffuse	Associate	24135829
Lymphoma Mantle Cell	Associate	18699851
Margins of Excision	Associate	27004399
Melanoma	Associate	21390047, 23407396
Melanoma Cutaneous Malignant	Associate	21390047
Meningioma	Associate	23534771
Mouth Diseases	Associate	31450912
Mouth Neoplasms	Associate	31450912
Myoma	Associate	30139812
Neoplasm Metastasis	Associate	29568775, 34909875
Neoplasms	Associate	11266544, 21452186, 22108238, 22183965, 23330005, 24135829, 24289586, 24563277, 25355595, 25491297, 26887052, 27175691, 27966655, 30139812, 31450912 View all (6 more)
Neoplasms	Stimulate	28464886
Neoplasms Squamous Cell	Associate	27246611
Neuroblastoma	Associate	27019310
Neurodegenerative Diseases	Associate	32522879, 35802638
Neuroendocrine Tumors	Associate	23127113
Neurologic Manifestations	Associate	38040034
Neuroma Acoustic	Stimulate	20150366
Neuroma Acoustic	Associate	20150366
Oculocerebrorenal Syndrome	Associate	11443545
Oral Submucous Fibrosis	Associate	31450912
Osteosarcoma	Associate	23679317, 23886164, 25824708
Ovarian Neoplasms	Associate	23330005, 33273524
Pain	Associate	38002974
Pena Shokeir syndrome type 1	Associate	38040034
Peripheral Nervous System Diseases	Associate	18567921
Prodromal Symptoms	Associate	34862210
Prostatic Neoplasms	Associate	24289586, 24615090, 27974699
Pulmonary Disease Chronic Obstructive	Associate	29506519
Reflex Abnormal	Associate	38040034
Retroperitoneal Neoplasms	Associate	27019310
Sarcoma	Associate	21287534, 23330005, 35955506
Skin Diseases	Associate	29130490
Skin Neoplasms	Associate	22417308
Small Cell Lung Carcinoma	Associate	37006075, 39735668
Squamous Cell Carcinoma of Head and Neck	Stimulate	11900225
Squamous Cell Carcinoma of Head and Neck	Associate	22108238
Stomach Neoplasms	Inhibit	19661089
Stomach Neoplasms	Associate	19661089, 23464428, 23464443, 25268735, 26820236, 27323165, 27323183, 27340861, 27706622, 27929383, 29434449, 31558863, 34909875
Tachycardia Atrioventricular Nodal Reentry	Associate	31450912
Testicular Germ Cell Tumor	Inhibit	17167184
Thyroid Cancer Papillary	Associate	28499365
Urinary Bladder Neoplasms	Associate	19414392, 21426550
Uterine Cervical Neoplasms	Associate	26130668
UV Sensitive Syndrome	Associate	11443545, 27004399
Werner Syndrome	Associate	21558802, 30657978
Xeroderma Pigmentosum	Associate	10026181, 11266544, 12060391, 15572672, 17466625, 18470933, 18927284, 21558802, 23330005, 23623389, 23755135, 25491297, 26874523, 29208038, 32522879, 32821917, 35802638 View all (2 more)
Xeroderma Pigmentosum B Cockayne Syndrome	Associate	11266544, 8818951
Xeroderma Pigmentosum Complementation Group G	Associate	11841555, 12060391, 22417308, 23370536, 26149386
Xeroderma Pigmentosum Type G Cockayne Syndrome	Associate	26149386

ERCC5 (ERCC excision repair 5, endonuclease)