ERCC4 - ERCC excision repair 4, endonuclease catalytic subunit Gene

Also Known as XPF; RAD1; FANCQ; XFEPS; ERCC11

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2072

About ERCC4

Cytogenetic location: 16p13.12 Genomic coordinates (GRCh38): 16:13,920,154-13,952,348 (from NCBI)

This gene has 16 transcripts (splice variants), 220 orthologues and is associated with 91 phenotypes. Ubiquitous expression in testis (RPKM 4.4), thyroid (RPKM 2.5) and 25 other tissues.

Summary

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 of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]

ERCC4 Products (1)

mRNA	Protein	Name
NM_005236.3	NP_005227.1	DNA repair endonuclease XPF

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to 3' overhang single-stranded DNA endodeoxyribonuclease activity	IMP IMP: Inferred from mutant phenotype	14690602	GOA
contributes to DNA binding	IDA IDA: Inferred from direct assay	14734547	GOA
contributes to DNA endonuclease activity	IDA IDA: Inferred from direct assay	8797827	GOA
enables DNA endonuclease activity	IDA IDA: Inferred from direct assay	10413517	GOA
enables DNA endonuclease activity	IMP IMP: Inferred from mutant phenotype	17055345	GOA
enables damaged DNA binding	IMP IMP: Inferred from mutant phenotype	11790111	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	22483113	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	7559382	GOA
enables single-stranded DNA binding	IDA IDA: Inferred from direct assay	10413517	GOA
NOT enables telomerase inhibitor activity	IDA IDA: Inferred from direct assay	18812185	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA repair	IGI IGI: Inferred from genetic interaction	17055345	GOA
involved in DNA repair	IMP IMP: Inferred from mutant phenotype	19596235	GOA
involved in cellular response to UV	IDA IDA: Inferred from direct assay	32034146	GOA
involved in cellular response to UV	IGI IGI: Inferred from genetic interaction	17055345	GOA
involved in double-strand break repair via homologous recombination	IMP IMP: Inferred from mutant phenotype	14728600	GOA
involved in double-strand break repair via nonhomologous end joining	IMP IMP: Inferred from mutant phenotype	14690602	GOA
involved in negative regulation of protection from non-homologous end joining at telomere	IMP IMP: Inferred from mutant phenotype	14690602	GOA
involved in negative regulation of telomere maintenance	IMP IMP: Inferred from mutant phenotype	17055345	GOA
involved in negative regulation of telomere maintenance via telomere lengthening	IDA IDA: Inferred from direct assay	18812185	GOA
acts upstream of or within nucleotide-excision repair	IDA IDA: Inferred from direct assay	10644440	GOA
involved in nucleotide-excision repair	IDA IDA: Inferred from direct assay	10413517	GOA
involved in nucleotide-excision repair	IMP IMP: Inferred from mutant phenotype	8797827	GOA
involved in nucleotide-excision repair involved in interstrand cross-link repair	IDA IDA: Inferred from direct assay	32034146	GOA
involved in response to UV	IMP IMP: Inferred from mutant phenotype	16678501	GOA
involved in telomere maintenance	IGI IGI: Inferred from genetic interaction	17055345	GOA
involved in telomere maintenance	IMP IMP: Inferred from mutant phenotype	14690602	GOA
involved in telomeric DNA-containing double minutes formation	IMP IMP: Inferred from mutant phenotype	14690602	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of ERCC4-ERCC1 complex	IDA IDA: Inferred from direct assay	14690602	GOA
part of ERCC4-ERCC1 complex	IPI IPI: Inferred from physical interaction	16076955	GOA
located in chromosome, telomeric region	IDA IDA: Inferred from direct assay	14690602	GOA
part of nucleotide-excision repair complex	IDA IDA: Inferred from direct assay	10644440	GOA
part of nucleotide-excision repair factor 1 complex	IDA IDA: Inferred from direct assay	10413517	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12571280	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ERCC4 Protein Structure

ERCC4

0
200
400
600
800
916 a.a.

Protein Preferred Names	Protein Names
DNA repair endonuclease XPF	DNA excision repair protein ERCC-4

ERCC4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ERCC4	Q92889	TACC1	Homo sapiens	O75410-7	Y2H Prey Pooling	32296183
Intra	ERCC4	Q92889	TACC1	Homo sapiens	O75410-7	Y2H Array	32296183
Intra	ERCC4	Q92889	SLX4	Homo sapiens	Q8IY92	Y2H	19596236
Intra	ERCC4	Q92889	SLX4	Homo sapiens	Q8IY92	Anti Bait CoIP	19596235
Intra	ERCC4	Q92889	SLX4	Homo sapiens	Q8IY92	Anti Tag CoIP	33961781
Intra	ERCC4	Q92889	SLX4	Homo sapiens	Q8IY92	Anti Tag CoIP	19596235
Intra	ERCC4	Q92889	ERCC1	Homo sapiens	P07992	Anti Tag CoIP	33961781
Intra	ERCC4	Q92889	ERCC1	Homo sapiens	P07992	Anti Bait CoIP	24780295

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Xeroderma Pigmentosum, Complementation Group F	Xeroderma Pigmentosum, Group F Xeroderma Pigmentosum Vi Xp6 Xeroderma Pigmentosum, Type F/Cockayne Syndrome XPF Xp, Group F Xeroderma Pigmentosum Group F Xp Group F Xeroderma Pigmentosum, Type 6 Xeroderma Pigmentosum Complementation Group F XP-F Xeroderma Pigmentosum Type F/Cockayne Syndrome XPF/CS
Fanconi Anemia, Complementation Group Q	Fanconi Anemia Complementation Group Q FANCQ
Xfe Progeroid Syndrome	Xpf-Ercc1 Progeroid Syndrome XFEPS
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Cockayne Syndrome	Cockayne'S Syndrome Dwarfism-Retinal Atrophy-Deafness Syndrome Neill-Dingwall Syndrome Progeria-Like Syndrome Progeroid Nanism Cs
Cockayne Syndrome A	Cockayne Syndrome Type 1 Cockayne Syndrome, Type A Cockayne Syndrome Type I CSA Cockayne Syndrome Classic Form Cockayne Syndrome Classical Cockayne Syndrome Type A Ckn1
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Xp/Cs Complex
Spastic Ataxia	Spax Ataxia, Spastic
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Hutchinson-Gilford Progeria Syndrome	Progeria HGPS Hutchinson-Gilford Syndrome Hutchinson-Gilford Progeria Hutchinson Gilford Syndrome Hutchinson Gilford Progeria Syndrome Hutchinson-Gilford Disease Progeria Of Childhood Hutchinson-Gilford-Progeria Syndrome
Progeroid Syndrome
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes
Pancreatic Cancer	Pancreatic Carcinoma Carcinoma Of Pancreas Familial Pancreatic Carcinoma Pancreatic Neoplasm Pancreatic Carcinoma, Familial Malignant Neoplasm Of Pancreas Pancreatic Acinar Carcinoma Pancreatic Tumor Familial Pancreatic Cancer Neoplasm Of The Pancreas Cancer Of The Pancreas Pancreatic Carcinoma, Somatic Pancreatic Cancer, Somatic Ca Body Of Pancreas Ca Head Of Pancreas Ca Tail Of Pancreas Malignant Neoplasm Of Body Of Pancreas Malignant Neoplasm Of Head Of Pancreas Malignant Neoplasm Of Tail Of Pancreas Pancreas Neoplasm Exocrine Cancer Exocrine Pancreas Carcinoma Hereditary Pancreatic Cancer Hereditary Pancreatic Carcinoma PNCA Pancreatic Cancer, Susceptibility To Carcinoma Of Head Of Pancreas Pancreatic Neoplasms Pancreatic Tumors Cancer, Pancreatic Cancer Of Pancreas Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site
Xeroderma Pigmentosum, Complementation Group G	Xeroderma Pigmentosum, Group G Xeroderma Pigmentosum Vii Xp7 XPG Xeroderma Pigmentosum Group G Xp Group G Xp, Group G Xpgc Xeroderma Pigmentosum, Group G/Cockayne Syndrome Xeroderma Pigmentosum, Type 7 Xeroderma Pigmentosum Complementation Group G XP-G Xp-G/Cs Xeroderma Pigmentosum Group G/Cockayne Syndrome
Cerebrooculofacioskeletal Syndrome	Cerebro-Oculo-Facio-Skeletal Syndrome Cofs Syndrome Pena-Shokeir Syndrome Type 2 Pena Shokeir Syndrome Type 2
Xeroderma Pigmentosum, Complementation Group A	Xeroderma Pigmentosum Group A Xp1 Xeroderma Pigmentosum, Group A XPA Xeroderma Pigmentosum I Xeroderma Pigmentosum Complementation Group A Xp Group A Xp, Group A Xeroderma Pigmentosum 1 Xeroderma Pigmentosum, Type 1 XP-A
Fanconi Anemia, Complementation Group F	Fanconi Anemia Complementation Group F FANCF
Bladder Cancer	Urinary Bladder Cancer Bladder Carcinoma Urinary Bladder Carcinoma Bladder Neoplasm Bladder Tumor Cancer, Bladder Malignant Neoplasm Of Urinary Bladder Carcinoma Of Bladder Bladder Cancer, Somatic Tumor Of The Bladder Carcinoma Of Urinary Bladder Bladder Carcinoma Urinary Cancer Of The Urinary Bladder Cancer, Urinary Bladder Malignant Bladder Neoplasm Malignant Bladder Tumor Neoplasm Of The Bladder Neoplasm Of The Urinary Bladder Tumor Of The Urinary Bladder Urinary Bladder Neoplasm BLC Urothelial Carcinoma Of The Bladder Bladder Tumors Urinary Bladder Neoplasms Bladder Cancer Nos Vesical Cancer Nos Malignant Neoplasm Of Bladder, Part Unspecified Malignant Tumour Of Urinary Bladder Primary Malignant Neoplasm Of Bladder
Uv-Sensitive Syndrome	Uvss Uv Sensitive Syndrome Ultraviolet Sensitive Syndrome
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04481	ERCC4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ERCC4	VGNC	VGNC:61933
Mus musculus	ERCC4	MGD	MGI:1354163
Bos taurus	ERCC4	VGNC	VGNC:28571
Canis familiaris	ERCC4	VGNC	VGNC:40444
Rattus norvegicus	ERCC4	RGD	RGD:1560340
Macaca mulatta	ERCC4	VGNC	VGNC:72424
Others	ERCC4	NCBI