Entity Details

Primary name ERCC8_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ13216
EntryNameERCC8_HUMAN
FullNameDNA excision repair protein ERCC-8
TaxID9606
Evidenceevidence at protein level
Length396
SequenceStatuscomplete
DateCreated1998-07-15
DateModified2021-06-02

Ontological Relatives

GenesERCC8

GO terms

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GOName
GO:0000012 single strand break repair
GO:0000109 nucleotide-excision repair complex
GO:0000209 protein polyubiquitination
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006289 nucleotide-excision repair
GO:0006974 cellular response to DNA damage stimulus
GO:0006979 response to oxidative stress
GO:0009411 response to UV
GO:0010165 response to X-ray
GO:0010996 response to auditory stimulus
GO:0014070 response to organic cyclic compound
GO:0016363 nuclear matrix
GO:0031464 Cul4A-RING E3 ubiquitin ligase complex
GO:0032508 DNA duplex unwinding
GO:0032991 protein-containing complex
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0043204 perikaryon
GO:0043687 post-translational protein modification
GO:0044877 protein-containing complex binding
GO:0045739 positive regulation of DNA repair
GO:0051865 protein autoubiquitination
GO:0080008 Cul4-RING E3 ubiquitin ligase complex
GO:0097680 double-strand break repair via classical nonhomologous end joining

Subcellular Location

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Subcellular Location
Nucleus
Nucleus matrix

Domains

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DomainNameCategoryType
IPR001680 WD40 repeatRepeatRepeat
IPR015943 WD40/YVTN repeat-like-containing domain superfamilyFamilyHomologous superfamily
IPR019775 WD40 repeat, conserved siteSiteConserved site
IPR020472 G-protein beta WD-40 repeatRepeatRepeat
IPR036322 WD40-repeat-containing domain superfamilyFamilyHomologous superfamily
IPR042238 DNA excision repair protein Rad28/ERCC8/Ckn1/ATCSA-1FamilyFamily

Diseases

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Disease IDSourceNameDescription
216400 OMIMCockayne syndrome A (CSA)A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer. The disease is caused by variants affecting the gene represented in this entry.
614621 OMIMUV-sensitive syndrome 2 (UVSS2)An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors. The disease is caused by variants affecting the gene represented in this entry.

Interactions

54 interactions

InteractorPartnerSourcesPublicationsLink
ERCC8_HUMANSYF1_HUMANBioGRID, HPRD, IntAct10944529 details
ERCC8_HUMANCBR1_HUMANHPRD, IntAct16169070 details
ERCC8_HUMANQCR8_HUMANHPRD, IntAct16169070 details
ERCC8_HUMANERCC6_HUMANBioGRID, HPRD, IntAct16751180 16916636 20541997 22032989 22902626 26826127 29225035 29531219 31970402 32355176 7664335 details
ERCC8_HUMANTF2H2_HUMANBioGRID, HPRD, IntAct7664335 details
ERCC8_HUMANCSK2B_HUMANBioGRID, MINT21900206 details
ERCC8_HUMANCUL4A_HUMANBioGRID, IntAct12732143 16751180 16949367 21145461 22902626 26826127 29225035 29531219 31973889 details
ERCC8_HUMANCUL4B_HUMANBioGRID, IntAct21145461 22902626 26496610 29531219 31973889 details
ERCC8_HUMANWDR61_HUMANIntAct32814053 details
ERCC8_HUMANNACAD_HUMANIntAct32814053 details
ERCC8_HUMANPIAS1_HUMANIntAct32814053 details
ERCC8_HUMANCSN3_HUMANBioGRID, IntAct12732143 19295130 29531219 32814053 details
ERCC8_HUMANRN183_HUMANIntAct32814053 details
ERCC8_HUMANGFAP_HUMANIntAct32814053 details
ERCC8_HUMANPRPS1_HUMANIntAct32814053 details
ERCC8_HUMANKIF1B_HUMANIntAct32814053 details
ERCC8_HUMANHTRA2_HUMANIntAct32814053 details
ERCC8_HUMANJPH3_HUMANIntAct32814053 details
ERCC8_HUMANATX1_HUMANIntAct32814053 details
ERCC8_HUMANDDB1_HUMANBioGRID, HPRD12732143 16751180 16949367 17392787 22232169 22902626 26826127 28416769 29531219 31970402 details
ERCC8_HUMANERPG3_HUMANBioGRID16751180 16916636 20541997 22032989 22902626 26826127 29225035 29531219 31970402 32355176 7664335 details
ERCC8_HUMANRBX1_HUMANBioGRID12732143 16751180 29531219 details
ERCC8_HUMANTOP1_HUMANBioGRID12549820 details
ERCC8_HUMANKCC2D_HUMANBioGRID26871637 details
ERCC8_HUMANCSN5_HUMANBioGRID, IntAct12732143 16751180 19615732 21145461 29531219 details
ERCC8_HUMANCSN6_HUMANBioGRID, IntAct12732143 19295130 19615732 21145461 29531219 details
ERCC8_HUMANRPB1_HUMANBioGRID16916636 32355176 details
ERCC8_HUMANEP300_HUMANBioGRID16916636 details
ERCC8_HUMANHMGN1_HUMANBioGRID16916636 details
ERCC8_HUMANDDB2_HUMANBioGRID12732143 details
ERCC8_HUMANCSN1_HUMANBioGRID12732143 details
ERCC8_HUMANCSN2_HUMANBioGRID12732143 29531219 details
ERCC8_HUMANCSN4_HUMANBioGRID12732143 19295130 29531219 details
ERCC8_HUMANCSN7A_HUMANBioGRID12732143 29531219 details
ERCC8_HUMANCSN8_HUMANBioGRID12732143 16751180 29531219 details
ERCC8_HUMANP53_HUMANBioGRID22032989 details
ERCC8_HUMANMDM2_HUMANBioGRID22032989 details
ERCC8_HUMANOGG1_HUMANBioGRID20100872 details
ERCC8_HUMANSSBP_HUMANBioGRID20100872 details
ERCC8_HUMANZNF24_HUMANBioGRID22902626 details
ERCC8_HUMANRUVB2_HUMANBioGRID22902626 details
ERCC8_HUMANUVSSA_HUMANBioGRID22902626 29323787 29531219 32355176 details
ERCC8_HUMANPCNA_HUMANBioGRID22902626 details
ERCC8_HUMANH10_HUMANBioGRID22902626 details
ERCC8_HUMANTERA_HUMANBioGRID26826127 details
ERCC8_HUMANUBXN7_HUMANBioGRID26826127 details
ERCC8_HUMANDNM1L_HUMANBioGRID29262528 details
ERCC8_HUMANTCPA_HUMANBioGRID29531219 details
ERCC8_HUMANTCPD_HUMANBioGRID29531219 details
ERCC8_HUMANTCPE_HUMANBioGRID29531219 details
ERCC8_HUMANATF3_HUMANBioGRID29225035 details
ERCC8_HUMANPSMD1_HUMANBioGRID29225035 details
ERCC8_HUMANPSB5_HUMANBioGRID29225035 details
ERCC8_HUMANNUCL_HUMANBioGRID31970402 details