Entity Details

Primary name ERCC2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP18074
EntryNameERCC2_HUMAN
FullNameGeneral transcription and DNA repair factor IIH helicase subunit XPD
TaxID9606
Evidenceevidence at protein level
Length760
SequenceStatuscomplete
DateCreated1990-11-01
DateModified2021-06-02

Ontological Relatives

GenesERCC2

GO terms

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GOName
GO:0000439 transcription factor TFIIH core complex
GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
GO:0000717 nucleotide-excision repair, DNA duplex unwinding
GO:0001666 response to hypoxia
GO:0001701 in utero embryonic development
GO:0003678 DNA helicase activity
GO:0003684 damaged DNA binding
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005669 transcription factor TFIID complex
GO:0005675 transcription factor TFIIH holo complex
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0005829 cytosol
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006289 nucleotide-excision repair
GO:0006293 nucleotide-excision repair, preincision complex stabilization
GO:0006294 nucleotide-excision repair, preincision complex assembly
GO:0006295 nucleotide-excision repair, DNA incision, 3'-to lesion
GO:0006296 nucleotide-excision repair, DNA incision, 5'-to lesion
GO:0006361 transcription initiation from RNA polymerase I promoter
GO:0006362 transcription elongation from RNA polymerase I promoter
GO:0006363 termination of RNA polymerase I transcription
GO:0006366 transcription by RNA polymerase II
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0006368 transcription elongation from RNA polymerase II promoter
GO:0006370 7-methylguanosine mRNA capping
GO:0006915 apoptotic process
GO:0006979 response to oxidative stress
GO:0007059 chromosome segregation
GO:0007568 aging
GO:0008022 protein C-terminus binding
GO:0008283 cell population proliferation
GO:0009411 response to UV
GO:0009650 UV protection
GO:0009791 post-embryonic development
GO:0016032 viral process
GO:0021510 spinal cord development
GO:0030198 extracellular matrix organization
GO:0030282 bone mineralization
GO:0030674 protein-macromolecule adaptor activity
GO:0032289 central nervous system myelin formation
GO:0033683 nucleotide-excision repair, DNA incision
GO:0035264 multicellular organism growth
GO:0035315 hair cell differentiation
GO:0040016 embryonic cleavage
GO:0043139 5'-3' DNA helicase activity
GO:0043249 erythrocyte maturation
GO:0043388 positive regulation of DNA binding
GO:0045951 positive regulation of mitotic recombination
GO:0046872 metal ion binding
GO:0047485 protein N-terminus binding
GO:0048568 embryonic organ development
GO:0048820 hair follicle maturation
GO:0051539 4 iron, 4 sulfur cluster binding
GO:0060218 hematopoietic stem cell differentiation
GO:0070516 CAK-ERCC2 complex
GO:0070911 global genome nucleotide-excision repair
GO:0071817 MMXD complex
GO:1901990 regulation of mitotic cell cycle phase transition

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR001945 RAD3/XPD familyFamilyFamily
IPR002464 DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved siteSiteConserved site
IPR006554 Helicase-like, DEXD box c2 typeDomainDomain
IPR006555 ATP-dependent helicase, C-terminalDomainDomain
IPR010614 DEAD2DomainDomain
IPR010643 Helical and beta-bridge domainDomainDomain
IPR013020 ATP-dependent helicase Rad3/Chl1-likeFamilyFamily
IPR014013 Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-typeDomainDomain
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
610756 OMIMCerebro-oculo-facio-skeletal syndrome 2 (COFS2)A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. The disease is caused by variants affecting the gene represented in this entry.
601675 OMIMTrichothiodystrophy 1, photosensitive (TTD1)A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD1 patients manifest cutaneous photosensitivity. The disease is caused by variants affecting the gene represented in this entry.
278730 OMIMXeroderma pigmentosum complementation group D (XP-D)An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-D patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. The disease is caused by variants affecting the gene represented in this entry.

Interactions

37 interactions

InteractorPartnerSourcesPublicationsLink
ERCC2_HUMANT2H2L_HUMANBioGRID, IntAct25416956 details
ERCC2_HUMANTF2H1_HUMANBioGRID, HPRD, IntAct11071939 26340423 8152490 8652557 9130708 details
ERCC2_HUMANMAT1_HUMANBioGRID, IntAct10801852 22939629 26186194 26340423 28514442 32245994 details
ERCC2_HUMANERCC3_HUMANBioGRID, DIP, HPRD, IntAct15220921 16669699 19934020 22678362 22939629 26340423 27193682 8152490 8652557 9118947 details
ERCC2_HUMANT2EA_HUMANBioGRID, DIP25492609 27193682 details
ERCC2_HUMANTF2H2_HUMANBioGRID, DIP, HPRD, IntAct11062469 12820975 19934020 26340423 27193682 9771713 details
ERCC2_HUMANTF2H3_HUMANBioGRID, DIP21157430 27193682 details
ERCC2_HUMANP53_HUMANBioGRID7663514 8612585 details
ERCC2_HUMANERCC5_HUMANBioGRID, HPRD32245994 8652557 details
ERCC2_HUMANHERC5_HUMANBioGRID16884686 details
ERCC2_HUMANTRI25_HUMANBioGRID16884686 details
ERCC2_HUMANANDR_HUMANBioGRID21157430 details
ERCC2_HUMANCDK7_HUMANBioGRID, HPRD, IntAct11445587 22939629 23602568 26186194 28514442 29568061 8692841 details
ERCC2_HUMANHSF2_HUMANIntAct25036637 details
ERCC2_HUMANNUDC3_HUMANIntAct25036637 details
ERCC2_HUMANSTIP1_HUMANIntAct25036637 details
ERCC2_HUMANCYBP_HUMANIntAct25036637 details
ERCC2_HUMANPTG3L_HUMANIntAct25036637 details
ERCC2_HUMANAASD1_HUMANIntAct25036637 details
ERCC2_HUMANMMS19_HUMANBioGRID, IntAct11071939 22678361 22678362 23585563 28178521 details
ERCC2_HUMANCIAO1_HUMANBioGRID, IntAct23585563 23891004 28178521 details
ERCC2_HUMANCIA2B_HUMANBioGRID, IntAct23585563 23891004 28178521 details
ERCC2_HUMANCCNH_HUMANBioGRID, IntAct22939629 26186194 26340423 28514442 8692842 details
ERCC2_HUMANRPB1_HUMANBioGRID, DIP27193682 32355176 details
ERCC2_HUMANT2FA_HUMANBioGRID, DIP27193682 9121429 details
ERCC2_HUMANISG15_HUMANBioGRID16884686 details
ERCC2_HUMANMCAF1_HUMANBioGRID19106100 details
ERCC2_HUMANERPG3_HUMANBioGRID20541997 details
ERCC2_HUMANERCC6_HUMANBioGRID20541997 details
ERCC2_HUMANRAD52_HUMANBioGRID, HPRD12372413 details
ERCC2_HUMANUVSSA_HUMANBioGRID22902626 32355176 details
ERCC2_HUMANSPTA1_HUMANBioGRID16889989 details
ERCC2_HUMANMD2L1_HUMANBioGRID18597777 details
ERCC2_HUMANXPA_HUMANBioGRID18597777 details
ERCC2_HUMANRAD51_HUMANBioGRID, HPRD12359753 18597777 details
ERCC2_HUMANCDK1_HUMANHPRD8652557 details
ERCC2_HUMANERCC2_HUMANHPRD11062469 11266437 15220921 details