ERCC8 - ERCC excision repair 8, CSA ubiquitin ligase complex subunit Gene

Also Known as CSA; CKN1; UVSS2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1161

About ERCC8

Cytogenetic location: 5q12.1 Genomic coordinates (GRCh38): 5:60,866,454-60,945,070 (from NCBI)

This gene has 34 transcripts (splice variants), 201 orthologues, 9 paralogues and is associated with 7 phenotypes. Ubiquitous expression in testis (RPKM 4.1), thyroid (RPKM 3.2) and 25 other tissues.

Summary

This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]

ERCC8 Products (4)

mRNA	Protein	Name
NM_000082.4	NP_000073.1	DNA excision repair protein ERCC-8 isoform 1
NM_001007233.3	NP_001007234.1	DNA excision repair protein ERCC-8 isoform 2
NM_001007234.3	NP_001007235.1	DNA excision repair protein ERCC-8 isoform 3
NM_001290285.2	NP_001277214.1	DNA excision repair protein ERCC-8 isoform 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	7664335	GOA
contributes to ubiquitin-protein transferase activity	IDA IDA: Inferred from direct assay	12732143	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	11782547	GOA
involved in double-strand break repair via classical nonhomologous end joining	IDA IDA: Inferred from direct assay	29545921	GOA
involved in positive regulation of DNA repair	IMP IMP: Inferred from mutant phenotype	7664335	GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	16751180	GOA
involved in protein autoubiquitination	IDA IDA: Inferred from direct assay	12732143	GOA
involved in protein polyubiquitination	IDA IDA: Inferred from direct assay	12732143	GOA
involved in regulation of transcription-coupled nucleotide-excision repair	IMP IMP: Inferred from mutant phenotype	17297471	GOA
involved in response to UV	IDA IDA: Inferred from direct assay	12732143	GOA
involved in response to UV	IMP IMP: Inferred from mutant phenotype	7664335	GOA
involved in response to oxidative stress	IDA IDA: Inferred from direct assay	11782547	GOA
involved in response to oxidative stress	IMP IMP: Inferred from mutant phenotype	17297471	GOA
involved in single strand break repair	IDA IDA: Inferred from direct assay	29545921	GOA
acts upstream of or within transcription-coupled nucleotide-excision repair	IDA IDA: Inferred from direct assay	12732143	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Cul4-RING E3 ubiquitin ligase complex	IMP IMP: Inferred from mutant phenotype	16949367	GOA
part of Cul4A-RING E3 ubiquitin ligase complex	IDA IDA: Inferred from direct assay	12732143	GOA
located in nuclear matrix	IDA IDA: Inferred from direct assay	11782547	GOA
part of nucleotide-excision repair complex	IDA IDA: Inferred from direct assay	12732143	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11782547	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	12732143	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

ERCC8 Protein Structure

WD40

0
100
200
300
396 a.a.

Protein Preferred Names	Protein Names
DNA excision repair protein ERCC-8	Cockayne syndrome WD-repeat protein CSA

ERCC8 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ERCC8	Q13216	XAB2	Homo sapiens	Q9HCS7	Pull Down	10944529
Intra	ERCC8	Q13216	XAB2	Homo sapiens	Q9HCS7	CoIP	10944529

Cross: Cross-species interaction Intra: Intraspecies interaction

ERCC8 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83156	ERCC8 Antibody (YA2901)	WB, IP	Human
HY-P83156A	ERCC8 Antibody (YA2901)(PBS only)	WB, IP	Human

Related Diseases

Diseases	Alias
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
Uv-Sensitive Syndrome 2	UVSS2
Cockayne Syndrome	Cockayne'S Syndrome Dwarfism-Retinal Atrophy-Deafness Syndrome Neill-Dingwall Syndrome Progeria-Like Syndrome Progeroid Nanism Cs
Mitochondrial Complex I Deficiency, Nuclear Type 10	MC1DN10 Mitochondrial Complex 1 Deficiency, Nuclear Type 10 Nuclear Type Mitochondrial Complex I Deficiency 10
Cockayne Syndrome Type Iii	Cockayne Syndrome Type 3 Cockayne Syndrome Type C Cockayne Syndrome, Type Iii
Uv-Sensitive Syndrome	Uvss Uv Sensitive Syndrome Ultraviolet Sensitive Syndrome
Cockayne Syndrome B	Cockayne Syndrome Type 2 Cockayne Syndrome, Type B Cockayne Syndrome Type Ii CSB Cockayne Syndrome 2 Cockayne Syndrome Type B Ckn2 Cockayne Syndrome, Type Ii
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of
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
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Cerebrooculofacioskeletal Syndrome	Cerebro-Oculo-Facio-Skeletal Syndrome Cofs Syndrome Pena-Shokeir Syndrome Type 2 Pena Shokeir Syndrome Type 2
De Sanctis-Cacchione Syndrome	Xerodermic Idiocy Xeroderma Pigmentosum With Neurologic Manifestation DSC Xerodermic Idiocy Of De Sanctis And Cacchione
Enophthalmos
Xfe Progeroid Syndrome	Xpf-Ercc1 Progeroid Syndrome XFEPS
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation	Lymphedema, Microcephaly And Chorioretinopathy Syndrome Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Intellectual Disability MCLMR Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome Mlcrd Syndrome Cdmmr Syndrome Lymphedema And Retinal Folds With Microcephaly And Microphthalmos Chorioretinal Dysplasia-Microcephaly-Mental Retardation Syndrome Microcephaly Lymphedema Chorioretinal Dysplasia Microcephaly And Chorioretinopathy With Or Without Mental Retardation, Autosomal Dominant Lymphedema, Microcephaly, Chorioretinopathy Syndrome Lymphedema And Retinal Folds With Ficrocephaly And Microphthalmos Chorioretinal Dysplasia-Microcephaly-Intellectual Disability Syndrome Microcephaly-Lymphedema-Chorioretinopathy Syndrome Mlcrd Lymphedema Microcephaly Chorioretinopathy Syndrome Microcephaly Lymphedema Chorioretinal Dysplasia Syndrome Microcephaly With Or Without Chorioretinopathy, Lymphedema Or Intellectual Disability Microcephaly With/Without Chorioretinopathy, Lymphedema, Or Mental Retardation
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
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04486	ERCC8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22492	Ercc8 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29015	Ercc8 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ERCC8	MGD	MGI:1919241
Macaca mulatta	ERCC8	VGNC	VGNC:72425
Bos taurus	ERCC8	VGNC	VGNC:28574
Rattus norvegicus	ERCC8	RGD	RGD:1311570
Felis catus	ERCC8	VGNC	VGNC:61934
Canis familiaris	ERCC8	VGNC	VGNC:40446
Others	ERCC8	NCBI