P18074 · ERCC2_HUMAN
- ProteinGeneral transcription and DNA repair factor IIH helicase subunit XPD
- GeneERCC2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids760 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
ATP-dependent 5'-3' DNA helicase (PubMed:8413672, PubMed:9771713, PubMed:31253769).
Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, not absolutely essential for minimal transcription in vitro (PubMed:9771713, PubMed:10024882, PubMed:17466626).
Required for transcription-coupled nucleotide excision repair (NER) of damaged DNA; recognizes damaged bases (PubMed:9771713, PubMed:17466626, PubMed:23352696).
Sequestered in chromatin on UV-damaged DNA (PubMed:23352696).
When complexed to CDK-activating kinase (CAK), involved in transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATP-dependent helicase activity of XPD/ERCC2 is required for DNA opening. Involved in DNA lesion verification (PubMed:31253769).
In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. XPD/ERCC2 acts by forming a bridge between CAK and the core-TFIIH complex. The structure of the TFIIH transcription complex differs from the NER-TFIIH complex; large movements by XPD/ERCC2 and XPB/ERCC3 are stabilized by XPA which allow this subunit to contact ssDNA (PubMed:31253769, PubMed:33902107).
Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers
Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, not absolutely essential for minimal transcription in vitro (PubMed:9771713, PubMed:10024882, PubMed:17466626).
Required for transcription-coupled nucleotide excision repair (NER) of damaged DNA; recognizes damaged bases (PubMed:9771713, PubMed:17466626, PubMed:23352696).
Sequestered in chromatin on UV-damaged DNA (PubMed:23352696).
When complexed to CDK-activating kinase (CAK), involved in transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATP-dependent helicase activity of XPD/ERCC2 is required for DNA opening. Involved in DNA lesion verification (PubMed:31253769).
In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. XPD/ERCC2 acts by forming a bridge between CAK and the core-TFIIH complex. The structure of the TFIIH transcription complex differs from the NER-TFIIH complex; large movements by XPD/ERCC2 and XPB/ERCC3 are stabilized by XPA which allow this subunit to contact ssDNA (PubMed:31253769, PubMed:33902107).
Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers
Catalytic activity
- Couples ATP hydrolysis with the unwinding of duplex DNA at the replication fork by translocating in the 5'-3' direction. This creates two antiparallel DNA single strands (ssDNA). The leading ssDNA polymer is the template for DNA polymerase III holoenzyme which synthesizes a continuous strand.
- ATP + H2O = ADP + H+ + phosphate
Cofactor
Protein has several cofactor binding sites:
Note: Binds 1 [4Fe-4S] cluster.
Activity regulation
Interaction with GTF2H2 (p44) results in stimulation of the 5'-3' helicase activity of this subunit (PubMed:9771713).
DNA unwinding by this subunit in TFIIH is stimulated 4-fold by XPA and 20-fold by ERCC5/XPG (PubMed:31253769).
DNA unwinding by this subunit in TFIIH is stimulated 4-fold by XPA and 20-fold by ERCC5/XPG (PubMed:31253769).
Kinetics
KM | SUBSTRATE | pH | TEMPERATURE[C] | NOTES | EVIDENCE | |
---|---|---|---|---|---|---|
200 μM | ATP |
pH Dependence
Optimum pH is 6.5 for both helicase and DNA-stimulated ATPase activity.
Features
Showing features for binding site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Binding site | 42-49 | ATP (UniProtKB | ChEBI) | ||||
Sequence: MPSGTGKT | ||||||
Binding site | 116 | [4Fe-4S] cluster (UniProtKB | ChEBI) | ||||
Sequence: C | ||||||
Binding site | 134 | [4Fe-4S] cluster (UniProtKB | ChEBI) | ||||
Sequence: C | ||||||
Binding site | 155 | [4Fe-4S] cluster (UniProtKB | ChEBI) | ||||
Sequence: C | ||||||
Binding site | 190 | [4Fe-4S] cluster (UniProtKB | ChEBI) | ||||
Sequence: C |
GO annotations
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameGeneral transcription and DNA repair factor IIH helicase subunit XPD
- EC number
- Short namesTFIIH subunit XPD
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP18074
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Xeroderma pigmentosum complementation group D (XP-D)
- Note
- DescriptionAn 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.
- See alsoMIM:278730
Natural variants in XP-D
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_008187 | 47 | G>R | in XP-D; dbSNP:rs1360631927 | |
VAR_017282 | 76 | T>A | in XP-D | |
VAR_003622 | 112 | R>H | in TTD1 and XP-D; dbSNP:rs121913020 | |
VAR_008188 | 234 | D>N | in XP-D; dbSNP:rs1340806384 | |
VAR_003623 | 461 | L>V | in XP-D and TTD1; dbSNP:rs121913016 | |
VAR_017283 | 485 | L>P | in XP-D; the corresponding mutation in fission yeast causes complete loss of activity; dbSNP:rs121913025 | |
VAR_017285 | 511 | R>Q | in XP-D; dbSNP:rs772572683 | |
VAR_003625 | 541 | S>R | in XP-D; mild; dbSNP:rs121913019 | |
VAR_008191 | 542 | Y>C | in XP-D | |
VAR_017286 | 582-583 | EK>VSE | in XP-D | |
VAR_008192 | 601 | R>L | in XP-D; dbSNP:rs140522180 | |
VAR_017289 | 601 | R>W | in XP-D; dbSNP:rs753641926 | |
VAR_003627 | 602 | G>D | in XP-D; combined with features of Cockayne syndrome; dbSNP:rs771824813 | |
VAR_003626 | 616 | R>P | in XP-D and TTD1; dbSNP:rs376556895 | |
VAR_008193 | 616 | R>W | in XP-D and COFS2; dbSNP:rs121913024 | |
VAR_017292 | 666 | R>W | in XP-D; dbSNP:rs752510317 | |
VAR_017293 | 681 | D>N | in XP-D and COFS2; dbSNP:rs121913023 | |
VAR_008197 | 683 | R>Q | in XP-D; dbSNP:rs758439420 | |
VAR_008198 | 683 | R>W | in XP-D; vitamin D-mediated activation of CYP24A1 is impaired in patient fibroblasts due to altered TFIIH-dependent phosphorylation of ETS1, subsequent impaired cooperation of ETS1 with VDR and altered VDR recruitment to CYP24A1 promoter; damaged DNA opening by TFIIH is impeded; dbSNP:rs41556519 | |
VAR_003629 | 716-730 | missing | in XP-D and TTD1 |
Trichothiodystrophy 1, photosensitive (TTD1)
- Note
- DescriptionA 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.
- See alsoMIM:601675
Natural variants in TTD1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_003622 | 112 | R>H | in TTD1 and XP-D; dbSNP:rs121913020 | |
VAR_008189 | 259 | C>Y | in TTD1; dbSNP:rs370454709 | |
VAR_003623 | 461 | L>V | in XP-D and TTD1; dbSNP:rs121913016 | |
VAR_008190 | 482 | missing | in TTD1 | |
VAR_017284 | 487 | R>G | in TTD1 | |
VAR_003624 | 488-493 | missing | in TTD1; mild | |
VAR_017287 | 592 | R>P | in TTD1 | |
VAR_017288 | 594 | A>P | in TTD1 | |
VAR_003626 | 616 | R>P | in XP-D and TTD1; dbSNP:rs376556895 | |
VAR_008194 | 658 | R>C | in TTD1; dbSNP:rs121913021 | |
VAR_017290 | 658 | R>G | in TTD1 | |
VAR_008195 | 658 | R>H | in TTD1; able to open damaged DNA and incise damaged DNA; dbSNP:rs762141272 | |
VAR_017291 | 663 | C>R | in TTD1; dbSNP:rs770367713 | |
VAR_008196 | 673 | D>G | in TTD1 | |
VAR_008199 | 713 | G>R | in TTD1; dbSNP:rs121913022 | |
VAR_003629 | 716-730 | missing | in XP-D and TTD1 | |
VAR_003630 | 722 | R>W | in TTD1; damaged DNA opening by TFIIH is impeded; dbSNP:rs121913026 | |
VAR_003631 | 725 | A>P | in TTD1; dbSNP:rs121913018 |
Cerebro-oculo-facio-skeletal syndrome 2 (COFS2)
- Note
- DescriptionA 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.
- See alsoMIM:610756
Natural variants in COFS2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_008193 | 616 | R>W | in XP-D and COFS2; dbSNP:rs121913024 | |
VAR_017293 | 681 | D>N | in XP-D and COFS2; dbSNP:rs121913023 |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_008187 | 47 | in XP-D; dbSNP:rs1360631927 | |||
Sequence: G → R | ||||||
Mutagenesis | 48 | Decreased transcriptional activity of the reconstituted TFIIH complex. Damaged DNA opening by TFIIH is impeded. Loss of TFIIH 5'-3' helicase activity, still binds GTF2H2. Does not restore nucleotide excision repair (NER) in deficient cells, does not bind UV damaged DNA. | ||||
Sequence: K → R | ||||||
Natural variant | VAR_017282 | 76 | in XP-D | |||
Sequence: T → A | ||||||
Natural variant | VAR_003622 | 112 | in TTD1 and XP-D; dbSNP:rs121913020 | |||
Sequence: R → H | ||||||
Mutagenesis | 190 | Reduced iron-sulfur-binding. Iron-sulfur-binding is further decreased in absence of MMS19. | ||||
Sequence: C → S | ||||||
Mutagenesis | 192 | Does not restore nucleotide excision repair (NER) in deficient cells, does not bind UV damaged DNA, TFIIH is able to transcribe. | ||||
Sequence: Y → A | ||||||
Mutagenesis | 196 | Restores <5% nucleotide excision repair (NER) in deficient cells, does not bind UV damaged DNA, TFIIH is able to transcribe. | ||||
Sequence: R → E | ||||||
Natural variant | VAR_011412 | 199 | in dbSNP:rs1799791 | |||
Sequence: I → M | ||||||
Natural variant | VAR_011413 | 201 | in dbSNP:rs1799792 | |||
Sequence: H → Y | ||||||
Natural variant | VAR_008188 | 234 | in XP-D; dbSNP:rs1340806384 | |||
Sequence: D → N | ||||||
Natural variant | VAR_008189 | 259 | in TTD1; dbSNP:rs370454709 | |||
Sequence: C → Y | ||||||
Natural variant | VAR_011414 | 312 | in dbSNP:rs1799793 | |||
Sequence: D → N | ||||||
Natural variant | VAR_003623 | 461 | in XP-D and TTD1; dbSNP:rs121913016 | |||
Sequence: L → V | ||||||
Natural variant | VAR_008190 | 482 | in TTD1 | |||
Sequence: Missing | ||||||
Natural variant | VAR_017283 | 485 | in XP-D; the corresponding mutation in fission yeast causes complete loss of activity; dbSNP:rs121913025 | |||
Sequence: L → P | ||||||
Natural variant | VAR_017284 | 487 | in TTD1 | |||
Sequence: R → G | ||||||
Natural variant | VAR_003624 | 488-493 | in TTD1; mild | |||
Sequence: Missing | ||||||
Natural variant | VAR_017285 | 511 | in XP-D; dbSNP:rs772572683 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_003625 | 541 | in XP-D; mild; dbSNP:rs121913019 | |||
Sequence: S → R | ||||||
Natural variant | VAR_008191 | 542 | in XP-D | |||
Sequence: Y → C | ||||||
Natural variant | VAR_017286 | 582-583 | in XP-D | |||
Sequence: EK → VSE | ||||||
Natural variant | VAR_017287 | 592 | in TTD1 | |||
Sequence: R → P | ||||||
Natural variant | VAR_017288 | 594 | in TTD1 | |||
Sequence: A → P | ||||||
Natural variant | VAR_008192 | 601 | in XP-D; dbSNP:rs140522180 | |||
Sequence: R → L | ||||||
Natural variant | VAR_017289 | 601 | in XP-D; dbSNP:rs753641926 | |||
Sequence: R → W | ||||||
Natural variant | VAR_003627 | 602 | in XP-D; combined with features of Cockayne syndrome; dbSNP:rs771824813 | |||
Sequence: G → D | ||||||
Natural variant | VAR_011415 | 616 | ||||
Sequence: R → C | ||||||
Natural variant | VAR_003626 | 616 | in XP-D and TTD1; dbSNP:rs376556895 | |||
Sequence: R → P | ||||||
Natural variant | VAR_008193 | 616 | in XP-D and COFS2; dbSNP:rs121913024 | |||
Sequence: R → W | ||||||
Natural variant | VAR_008194 | 658 | in TTD1; dbSNP:rs121913021 | |||
Sequence: R → C | ||||||
Natural variant | VAR_017290 | 658 | in TTD1 | |||
Sequence: R → G | ||||||
Natural variant | VAR_008195 | 658 | in TTD1; able to open damaged DNA and incise damaged DNA; dbSNP:rs762141272 | |||
Sequence: R → H | ||||||
Natural variant | VAR_017291 | 663 | in TTD1; dbSNP:rs770367713 | |||
Sequence: C → R | ||||||
Natural variant | VAR_017292 | 666 | in XP-D; dbSNP:rs752510317 | |||
Sequence: R → W | ||||||
Natural variant | VAR_008196 | 673 | in TTD1 | |||
Sequence: D → G | ||||||
Natural variant | VAR_003628 | 675 | in XP-D/CS; severe form | |||
Sequence: G → R | ||||||
Mutagenesis | 675 | No longer interacts with GTF2H2/p44, has 5'-3' helicase activity. | ||||
Sequence: G → W | ||||||
Natural variant | VAR_017293 | 681 | in XP-D and COFS2; dbSNP:rs121913023 | |||
Sequence: D → N | ||||||
Natural variant | VAR_008197 | 683 | in XP-D; dbSNP:rs758439420 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_008198 | 683 | in XP-D; vitamin D-mediated activation of CYP24A1 is impaired in patient fibroblasts due to altered TFIIH-dependent phosphorylation of ETS1, subsequent impaired cooperation of ETS1 with VDR and altered VDR recruitment to CYP24A1 promoter; damaged DNA opening by TFIIH is impeded; dbSNP:rs41556519 | |||
Sequence: R → W | ||||||
Natural variant | VAR_008199 | 713 | in TTD1; dbSNP:rs121913022 | |||
Sequence: G → R | ||||||
Natural variant | VAR_003629 | 716-730 | in XP-D and TTD1 | |||
Sequence: Missing | ||||||
Mutagenesis | 716-730 | No longer interacts with GTF2H2/p44, has 5'-3' helicase activity. | ||||
Sequence: Missing | ||||||
Natural variant | VAR_003630 | 722 | in TTD1; damaged DNA opening by TFIIH is impeded; dbSNP:rs121913026 | |||
Sequence: R → W | ||||||
Mutagenesis | 722 | No longer interacts with GTF2H2/p44, has 5'-3' helicase activity. | ||||
Sequence: R → W | ||||||
Natural variant | VAR_003631 | 725 | in TTD1; dbSNP:rs121913018 | |||
Sequence: A → P | ||||||
Natural variant | VAR_011416 | 751 | in dbSNP:rs13181 | |||
Sequence: K → Q |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,189 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000101980 | 1-760 | General transcription and DNA repair factor IIH helicase subunit XPD | |||
Sequence: MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQRAYPLEVTKLIYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEEFDAHGREVPLPAGIYNLDDLKALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNIDNVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQRLRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYVKWRLRVQHVVQESPPAFLSGLAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGFTIIIEPFDDRTPTIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMATFTMTLARVCLCPMIIGRGNDQVAISSKFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFTSYQYMESTVASWYEQGILENIQRNKLLFIETQDGAETSVALEKYQEACENGRGAILLSVARGKVSEGIDFVHHYGRAVIMFGVPYVYTQSRILKARLEYLRDQFQIRENDFLTFDAMRHAAQCVGRAIRGKTDYGLMVFADKRFARGDKRGKLPRWIQEHLTDANLNLTVDEGVQVAKYFLRQMAQPFHREDQLGLSLLSLEQLESEETLKRIEQIAQQL |
Post-translational modification
ISGylated.
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Component of the 7-subunit TFIIH core complex composed of XPB/ERCC3, XPD/ERCC2, GTF2H1, GTF2H2, GTF2H3, GTF2H4 and GTF2H5, which is active in NER (PubMed:9852112, PubMed:9771713).
The core complex associates with the 3-subunit CDK-activating kinase (CAK) module composed of CCNH/cyclin H, CDK7 and MNAT1 to form the 10-subunit holoenzyme (holo-TFIIH) active in transcription (PubMed:9852112, PubMed:9771713).
Interacts with GTF2H2 (p44) which stimulates the 5'-3' helicase activity of this subunit (PubMed:9771713).
Component of the MMXD complex, which includes CIAO1, ERCC2, CIAO2B, MMS19 and SLC25A5 (PubMed:20797633).
Interacts with CIAO1 and CIAO2B; the interaction WITH CIAO2B is direct (PubMed:23891004).
Interacts with ATF7IP (PubMed:19106100).
Interacts directly with MMS19 (PubMed:23585563).
Part of TBP-based Pol II pre-initiation complex (PIC), in which Pol II core assembles with general transcription factors and other specific initiation factors including GTF2E1, GTF2E2, GTF2F1, GTF2F2, TCEA1, ERCC2, ERCC3, GTF2H2, GTF2H3, GTF2H4, GTF2H5, GTF2A1, GTF2A2, GTF2B and TBP; this large multi-subunit PIC complex mediates DNA unwinding and targets Pol II core to the transcription start site where the first phosphodiester bond forms
The core complex associates with the 3-subunit CDK-activating kinase (CAK) module composed of CCNH/cyclin H, CDK7 and MNAT1 to form the 10-subunit holoenzyme (holo-TFIIH) active in transcription (PubMed:9852112, PubMed:9771713).
Interacts with GTF2H2 (p44) which stimulates the 5'-3' helicase activity of this subunit (PubMed:9771713).
Component of the MMXD complex, which includes CIAO1, ERCC2, CIAO2B, MMS19 and SLC25A5 (PubMed:20797633).
Interacts with CIAO1 and CIAO2B; the interaction WITH CIAO2B is direct (PubMed:23891004).
Interacts with ATF7IP (PubMed:19106100).
Interacts directly with MMS19 (PubMed:23585563).
Part of TBP-based Pol II pre-initiation complex (PIC), in which Pol II core assembles with general transcription factors and other specific initiation factors including GTF2E1, GTF2E2, GTF2F1, GTF2F2, TCEA1, ERCC2, ERCC3, GTF2H2, GTF2H3, GTF2H4, GTF2H5, GTF2A1, GTF2A2, GTF2B and TBP; this large multi-subunit PIC complex mediates DNA unwinding and targets Pol II core to the transcription start site where the first phosphodiester bond forms
(Microbial infection) Interacts with Epstein-Barr virus EBNA2.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P18074 | CIAO1 O76071 | 2 | EBI-6380590, EBI-725145 | |
BINARY | P18074 | CIAO2B Q9Y3D0 | 2 | EBI-6380590, EBI-744045 | |
BINARY | P18074 | ERCC3 P19447 | 5 | EBI-6380590, EBI-1183307 | |
BINARY | P18074 | GTF2H2 Q13888 | 9 | EBI-6380590, EBI-1565170 | |
BINARY | P18074 | GTF2H2C_2 Q6P1K8 | 3 | EBI-6380590, EBI-8469755 | |
BINARY | P18074 | MMS19 Q96T76 | 9 | EBI-6380590, EBI-1044169 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain, motif, region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 7-283 | Helicase ATP-binding | ||||
Sequence: GLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQRAYPLEVTKLIYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEEFDAHGREVPLPAGIYNLDDLKALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNIDNVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQRLRD | ||||||
Motif | 234-237 | DEAH box | ||||
Sequence: DEAH | ||||||
Region | 438-637 | Mediates interaction with MMS19 | ||||
Sequence: MDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMATFTMTLARVCLCPMIIGRGNDQVAISSKFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFTSYQYMESTVASWYEQGILENIQRNKLLFIETQDGAETSVALEKYQEACENGRGAILLSVARGKVSEGIDFVHHYGRAVIMFGVPYVYTQSRILKARL | ||||||
Motif | 682-695 | Nuclear localization signal | ||||
Sequence: KRFARGDKRGKLPR |
Domain
Interacts with GTF2H2/p44 via the C-terminus of this protein; mutations in the C-terminal region of XPD do not alter its helicase activity, but prevent its interaction with and helicase stimulation by GTF2H2/p44 (PubMed:9771713).
Sequence similarities
Belongs to the helicase family. RAD3/XPD subfamily.
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
P18074-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length760
- Mass (Da)86,909
- Last updated1990-11-01 v1
- Checksum746C0888CDF2E331
P18074-2
- Name2
Computationally mapped potential isoform sequences
There are 9 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A8MX75 | A8MX75_HUMAN | ERCC2 | 706 | ||
E7EVE9 | E7EVE9_HUMAN | ERCC2 | 829 | ||
K7EIT8 | K7EIT8_HUMAN | ERCC2 | 292 | ||
B4E0F6 | B4E0F6_HUMAN | ERCC2 | 127 | ||
A0A804HK53 | A0A804HK53_HUMAN | ERCC2 | 719 | ||
A0A804HK75 | A0A804HK75_HUMAN | ERCC2 | 205 | ||
A0A804HL97 | A0A804HL97_HUMAN | ERCC2 | 459 | ||
K7EKF3 | K7EKF3_HUMAN | ERCC2 | 202 | ||
K7ENL1 | K7ENL1_HUMAN | ERCC2 | 109 |
Sequence caution
Features
Showing features for alternative sequence.
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
X52221 EMBL· GenBank· DDBJ | CAA36463.1 EMBL· GenBank· DDBJ | mRNA | ||
X52222 EMBL· GenBank· DDBJ | CAA36464.1 EMBL· GenBank· DDBJ | mRNA | ||
L47234 EMBL· GenBank· DDBJ | AAL48323.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AY092780 EMBL· GenBank· DDBJ | AAM45142.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. | |
BT006883 EMBL· GenBank· DDBJ | AAP35529.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471126 EMBL· GenBank· DDBJ | EAW57341.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC108255 EMBL· GenBank· DDBJ | AAI08256.1 EMBL· GenBank· DDBJ | mRNA | ||
BC110523 EMBL· GenBank· DDBJ | AAI10524.1 EMBL· GenBank· DDBJ | mRNA |