ERCC5 - ERCC excision repair 5, endonuclease Gene

Also Known as XPG; UVDR; XPGC; COFS3; ERCM2; ERCC5-201

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2073

About ERCC5

Cytogenetic location: 13q33.1 Genomic coordinates (GRCh38): 13:102,846,032-102,875,995 (from NCBI)

This gene has 18 transcripts (splice variants), 241 orthologues, 1 paralogue and is associated with 100 phenotypes. Ubiquitous expression in lymph node (RPKM 16.5), duodenum (RPKM 16.5) and 25 other tissues.

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 transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin Cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]

ERCC5 Products (1)

mRNA	Protein	Name
NM_000123.4	NP_000114.3	DNA excision repair protein ERCC-5

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA endonuclease activity	IDA IDA: Inferred from direct assay	8090225	GOA
enables RNA polymerase II complex binding	IDA IDA: Inferred from direct assay	16246722	GOA
enables bubble DNA binding	IDA IDA: Inferred from direct assay	16246722	GOA
enables damaged DNA binding	IDA IDA: Inferred from direct assay	32821917	GOA
enables double-stranded DNA binding	IDA IDA: Inferred from direct assay	8090225	GOA
enables endonuclease activity	IDA IDA: Inferred from direct assay	32522879	GOA
enables enzyme activator activity	IDA IDA: Inferred from direct assay	9927729	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8652557	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	10026181	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	11259578	GOA
enables single-stranded DNA binding	IDA IDA: Inferred from direct assay	12644470	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in base-excision repair, AP site formation	IDA IDA: Inferred from direct assay	9927729	GOA
involved in double-strand break repair via homologous recombination	IMP IMP: Inferred from mutant phenotype	26833090	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	16167068	GOA
involved in nucleotide-excision repair	IDA IDA: Inferred from direct assay	8090225	GOA
involved in nucleotide-excision repair	IMP IMP: Inferred from mutant phenotype	7657672	GOA
involved in response to UV	IDA IDA: Inferred from direct assay	8710877	GOA
involved in response to UV	IMP IMP: Inferred from mutant phenotype	16167068	GOA
involved in response to UV-C	IMP IMP: Inferred from mutant phenotype	17208056	GOA
involved in transcription-coupled nucleotide-excision repair	IMP IMP: Inferred from mutant phenotype	16246722	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of DNA replication factor A complex	IDA IDA: Inferred from direct assay	7700386	GOA
part of nucleotide-excision repair complex	IDA IDA: Inferred from direct assay	11259578	GOA
located in nucleus	IDA IDA: Inferred from direct assay	8710877	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	26833090	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

ERCC5 Protein Structure

XPG_N

XPG_I

0
200
400
600
800
1000
1186 a.a.

Protein Preferred Names	Protein Names
DNA excision repair protein ERCC-5	DNA repair protein complementing XP-G cells

Related Diseases

Diseases	Alias
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 3	COFS3 Cerebro-Oculo-Facio-Skeletal Syndrome 3
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Xp/Cs Complex
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
Cerebrooculofacioskeletal Syndrome 1	Cofs Syndrome COFS1 Pena-Shokeir Syndrome Type 2 Cofs Pena-Shokeir Syndrome, Type Ii Cerebrooculofacioskeletal Syndrome Cerebro-Oculo-Facio-Skeletal Syndrome 1 Pena Shokeir Syndrome Type 2
Cockayne Syndrome	Cockayne'S Syndrome Dwarfism-Retinal Atrophy-Deafness Syndrome Neill-Dingwall Syndrome Progeria-Like Syndrome Progeroid Nanism Cs
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes
Pectus Excavatum	Funnel Chest Congenital Pectus Excavatum
Polyneuropathy	Polyneuropathies
Hepatoblastoma
Cerebrooculofacioskeletal Syndrome	Cerebro-Oculo-Facio-Skeletal Syndrome Cofs Syndrome Pena-Shokeir Syndrome Type 2 Pena Shokeir Syndrome Type 2
Dyskeratosis Congenita, Autosomal Dominant 2	Autosomal Recessive Dyskeratosis Congenita 4 DKCA2 Autosomal Dominant Dyskeratosis Congenita 2 DKCB4 Dyskeratosis Congenita, Autosomal Dominant, 2 Dyskeratosis Congenita Scoggins Type Dyskeratosis Congenita, Autosomal Recessive, 4 Dyskeratosis Congenita, Autosomal Recessive 4 Dyskeratosis Congenita, Autosomal Dominant, Type 2
Xeroderma Pigmentosum, Complementation Group E	Xeroderma Pigmentosum V Xp5 Xeroderma Pigmentosum, Group E, Ddb-Negative Subtype Xpe Xp, Group E Xeroderma Pigmentosum, Type 5 Xeroderma Pigmentosum Complementation Group E XP-E Xp Group E
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
Xfe Progeroid Syndrome	Xpf-Ercc1 Progeroid Syndrome XFEPS
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
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

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-RS04482	ERCC5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ERCC5	RGD	RGD:1586176
Mus musculus	ERCC5	MGD	MGI:103582