Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
3.6.4.12
Hydrolases;
Acting on acid anhydrides;
Acting on acid anhydrides to facilitate cellular and subcellular movement;
DNA helicase.
PDB | Resolution (Å) | PDB name |
---|---|---|
4ERN | 1.8 | Crystal structure of the C-terminal domain of human XPB/ERCC-3 excision repair protein at 1.80 A |
5IVW | 10.0 | Human core TFIIH bound to DNA within the PIC |
5IY6 | 7.2 | Human holo-PIC in the closed state |
5IY7 | 8.6 | Human holo-PIC in the open state |
5IY8 | 7.9 | Human holo-PIC in the initial transcribing state |
5IY9 | 6.3 | Human holo-PIC in the initial transcribing state (no IIS) |
5OF4 | 4.4 | The cryo-EM structure of human TFIIH |
6NMI | 3.7 | Cryo-EM structure of the human TFIIH core complex |
6O9L | 7.2 | Human holo-PIC in the closed state |
6O9M | 4.4 | Structure of the human apo TFIIH |
6RO4 | 3.5 | Structure of the core TFIIH-XPA-DNA complex |
7AD8 | 3.5 | Core TFIIH-XPA-DNA complex with modelled p62 subunit |
7EGB | 3.3 | TFIID-based holo PIC on SCP promoter |
7EGC | 3.9 | p53-bound TFIID-based holo PIC on HDM2 promoter |
7ENA | 4.07 | TFIID-based PIC-Mediator holo-complex in pre-assembled state (pre-hPIC-MED) |
7ENC | 4.13 | TFIID-based PIC-Mediator holo-complex in fully-assembled state (hPIC-MED) |
7LBM | 4.8 | Structure of the human Mediator-bound transcription pre-initiation complex |
7NVR | 4.5 | Human Mediator with RNA Polymerase II Pre-initiation complex |
7NVV | 2.9 | XPB-containing part of TFIIH in a post-translocated state (with ADP-BeF3) |
7NVW | 4.3 | TFIIH in a pre-translocated state (without ADP-BeF3) |
7NVX | 3.9 | TFIIH in a post-translocated state (with ADP-BeF3) |
7NVY | 7.3 | RNA polymerase II pre-initiation complex with closed promoter DNA in proximal position |
7NVZ | 7.2 | RNA polymerase II pre-initiation complex with closed promoter DNA in distal position |
7NW0 | 6.6 | RNA polymerase II pre-initiation complex with open promoter DNA |
8GXQ | 5.04 | PIC-Mediator in complex with +1 nucleosome (T40N) in MH-binding state |
8GXS | 4.16 | PIC-Mediator in complex with +1 nucleosome (T40N) in H-binding state |
GO ontology | GO term | GO description |
---|---|---|
Biological Process | GO:0006281 | DNA repair |
Biological Process | GO:0006265 | DNA topological change |
Biological Process | GO:0009650 | UV protection |
Biological Process | GO:0006915 | apoptotic process |
Biological Process | GO:0048568 | embryonic organ development |
Biological Process | GO:0035315 | hair cell differentiation |
Biological Process | GO:0006289 | nucleotide-excision repair |
Biological Process | GO:0000717 | nucleotide-excision repair, DNA duplex unwinding |
Biological Process | GO:0043065 | positive regulation of apoptotic process |
Biological Process | GO:0008104 | protein localization |
Biological Process | GO:1901990 | regulation of mitotic cell cycle phase transition |
Biological Process | GO:0009411 | response to UV |
Biological Process | GO:0001666 | response to hypoxia |
Biological Process | GO:0006979 | response to oxidative stress |
Biological Process | GO:0006366 | transcription by RNA polymerase II |
Biological Process | GO:0006368 | transcription elongation by RNA polymerase II |
Biological Process | GO:0006367 | transcription initiation at RNA polymerase II promoter |
Biological Process | GO:0006283 | transcription-coupled nucleotide-excision repair |
Molecular Function | GO:0043138 | 3'-5' DNA helicase activity |
Molecular Function | GO:0005524 | ATP binding |
Molecular Function | GO:0016887 | ATP hydrolysis activity |
Molecular Function | GO:0003677 | DNA binding |
Molecular Function | GO:0003684 | damaged DNA binding |
Molecular Function | GO:1990841 | promoter-specific chromatin binding |
Cellular Component | GO:0005654 | nucleoplasm |
Cellular Component | GO:0000112 | nucleotide-excision repair factor 3 complex |
Cellular Component | GO:0005634 | nucleus |
Cellular Component | GO:0005669 | transcription factor TFIID complex |
Cellular Component | GO:0000439 | transcription factor TFIIH core complex |
Cellular Component | GO:0005675 | transcription factor TFIIH holo complex |
Cellular Component | GO:0097550 | transcription preinitiation complex |
InterPro | InterPro name |
---|---|
IPR001161 | Helicase XPB/Ssl2 |
IPR001650 | Helicase, C-terminal |
IPR006935 | Helicase/UvrB, N-terminal |
IPR014001 | Helicase superfamily 1/2, ATP-binding domain |
IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
IPR032438 | ERCC3/RAD25/XPB helicase, C-terminal domain |
IPR032830 | Helicase XPB/Ssl2, N-terminal domain |
Pfam | Pfam name |
---|---|
PF04851 | Type III restriction enzyme, res subunit |
PF13625 | Helicase conserved C-terminal domain |
PF16203 | ERCC3/RAD25/XPB C-terminal helicase |
Reactome | Reactome Name | Node type | Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-112382 | Formation of RNA Pol II elongation complex | Leaf | R-HSA-74160 | Gene expression (Transcription) |
R-HSA-113418 | Formation of the Early Elongation Complex | Leaf | R-HSA-74160 | Gene expression (Transcription) |
R-HSA-167152 | Formation of HIV elongation complex in the absence of HIV Tat | Leaf | R-HSA-1643685 | Disease |
R-HSA-167158 | Formation of the HIV-1 Early Elongation Complex | Leaf | R-HSA-1643685 | Disease |
R-HSA-167160 | RNA Pol II CTD phosphorylation and interaction with CE during HIV infection | Leaf | R-HSA-1643685 | Disease |
R-HSA-167161 | HIV Transcription Initiation | Leaf | R-HSA-1643685 | Disease |
R-HSA-167162 | RNA Polymerase II HIV Promoter Escape | Leaf | R-HSA-1643685 | Disease |
R-HSA-167172 | Transcription of the HIV genome | Internal node | R-HSA-1643685 | Disease |
R-HSA-167200 | Formation of HIV-1 elongation complex containing HIV-1 Tat | Leaf | R-HSA-1643685 | Disease |
R-HSA-167246 | Tat-mediated elongation of the HIV-1 transcript | Internal node | R-HSA-1643685 | Disease |
R-HSA-427413 | NoRC negatively regulates rRNA expression | Leaf | R-HSA-74160 | Gene expression (Transcription) |
R-HSA-5696395 | Formation of Incision Complex in GG-NER | Leaf | R-HSA-73894 | DNA Repair |
R-HSA-5696400 | Dual Incision in GG-NER | Leaf | R-HSA-73894 | DNA Repair |
R-HSA-674695 | RNA Polymerase II Pre-transcription Events | Leaf | R-HSA-74160 | Gene expression (Transcription) |
R-HSA-6781823 | Formation of TC-NER Pre-Incision Complex | Leaf | R-HSA-73894 | DNA Repair |
R-HSA-6781827 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | Internal node | R-HSA-73894 | DNA Repair |
R-HSA-6782135 | Dual incision in TC-NER | Leaf | R-HSA-73894 | DNA Repair |
R-HSA-6782210 | Gap-filling DNA repair synthesis and ligation in TC-NER | Leaf | R-HSA-73894 | DNA Repair |
R-HSA-6796648 | TP53 Regulates Transcription of DNA Repair Genes | Leaf | R-HSA-74160 | Gene expression (Transcription) |
R-HSA-72086 | mRNA Capping | Leaf | R-HSA-8953854 | Metabolism of RNA |
R-HSA-73762 | RNA Polymerase I Transcription Initiation | Leaf | R-HSA-74160 | Gene expression (Transcription) |
R-HSA-73772 | RNA Polymerase I Promoter Escape | Leaf | R-HSA-74160 | Gene expression (Transcription) |
R-HSA-73776 | RNA Polymerase II Promoter Escape | Leaf | R-HSA-74160 | Gene expression (Transcription) |
R-HSA-73779 | RNA Polymerase II Transcription Pre-Initiation And Promoter Opening | Leaf | R-HSA-74160 | Gene expression (Transcription) |
R-HSA-73863 | RNA Polymerase I Transcription Termination | Leaf | R-HSA-74160 | Gene expression (Transcription) |
R-HSA-75953 | RNA Polymerase II Transcription Initiation | Leaf | R-HSA-74160 | Gene expression (Transcription) |
R-HSA-75955 | RNA Polymerase II Transcription Elongation | Internal node | R-HSA-74160 | Gene expression (Transcription) |
R-HSA-76042 | RNA Polymerase II Transcription Initiation And Promoter Clearance | Internal node | R-HSA-74160 | Gene expression (Transcription) |
R-HSA-77075 | RNA Pol II CTD phosphorylation and interaction with CE | Leaf | R-HSA-74160 | Gene expression (Transcription) |
HPO ID | HPO name |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000028 | Cryptorchidism |
HP:0000133 | Gonadal dysgenesis |
HP:0000135 | Hypogonadism |
HP:0000164 | Abnormality of the dentition |
HP:0000238 | Hydrocephalus |
HP:0000252 | Microcephaly |
HP:0000278 | Retrognathia |
HP:0000280 | Coarse facial features |
HP:0000286 | Epicanthus |
HP:0000316 | Hypertelorism |
HP:0000320 | Bird-like facies |
HP:0000365 | Hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
HP:0000411 | Protruding ear |
HP:0000482 | Microcornea |
HP:0000483 | Astigmatism |
HP:0000486 | Strabismus |
HP:0000488 | Retinopathy |
HP:0000491 | Keratitis |
HP:0000498 | Blepharitis |
HP:0000509 | Conjunctivitis |
HP:0000518 | Cataract |
HP:0000519 | Developmental cataract |
HP:0000524 | Conjunctival telangiectasia |
HP:0000545 | Myopia |
HP:0000546 | Retinal degeneration |
HP:0000565 | Esotropia |
HP:0000568 | Microphthalmia |
HP:0000580 | Pigmentary retinopathy |
HP:0000601 | Hypotelorism |
HP:0000608 | Macular degeneration |
HP:0000613 | Photophobia |
HP:0000621 | Entropion |
HP:0000639 | Nystagmus |
HP:0000648 | Optic atrophy |
HP:0000651 | Diplopia |
HP:0000656 | Ectropion |
HP:0000670 | Carious teeth |
HP:0000690 | Agenesis of maxillary lateral incisor |
HP:0000762 | Decreased nerve conduction velocity |
HP:0000938 | Osteopenia |
HP:0000958 | Dry skin |
HP:0000962 | Hyperkeratosis |
HP:0000963 | Thin skin |
HP:0000964 | Eczema |
HP:0000988 | Skin rash |
HP:0000992 | Cutaneous photosensitivity |
HP:0000995 | Melanocytic nevus |
HP:0001009 | Telangiectasia |
HP:0001025 | Urticaria |
HP:0001029 | Poikiloderma |
HP:0001034 | Hypermelanotic macule |
HP:0001053 | Hypopigmented skin patches |
HP:0001059 | Pterygium |
HP:0001072 | Thickened skin |
HP:0001097 | Keratoconjunctivitis sicca |
HP:0001197 | Abnormality of prenatal development or birth |
HP:0001217 | Clubbing |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001257 | Spasticity |
HP:0001260 | Dysarthria |
HP:0001263 | Global developmental delay |
HP:0001265 | Hyporeflexia |
HP:0001272 | Cerebellar atrophy |
HP:0001276 | Hypertonia |
HP:0001289 | Confusion |
HP:0001290 | Generalized hypotonia |
HP:0001315 | Reduced tendon reflexes |
HP:0001338 | Partial agenesis of the corpus callosum |
HP:0001347 | Hyperreflexia |
HP:0001363 | Craniosynostosis |
HP:0001373 | Joint dislocation |
HP:0001480 | Freckling |
HP:0001508 | Failure to thrive |
HP:0001511 | Intrauterine growth retardation |
HP:0001537 | Umbilical hernia |
HP:0001596 | Alopecia |
HP:0001598 | Concave nail |
HP:0001618 | Dysphonia |
HP:0001629 | Ventricular septal defect |
HP:0001638 | Cardiomyopathy |
HP:0001807 | Ridged nail |
HP:0001808 | Fragile nails |
HP:0001809 | Split nail |
HP:0001875 | Neutropenia |
HP:0001903 | Anemia |
HP:0001945 | Fever |
HP:0002066 | Gait ataxia |
HP:0002071 | Abnormality of extrapyramidal motor function |
HP:0002080 | Intention tremor |
HP:0002119 | Ventriculomegaly |
HP:0002120 | Cerebral cortical atrophy |
HP:0002135 | Basal ganglia calcification |
HP:0002197 | Generalized-onset seizure |
HP:0002208 | Coarse hair |
HP:0002209 | Sparse scalp hair |
HP:0002293 | Alopecia of scalp |
HP:0002299 | Brittle hair |
HP:0002353 | EEG abnormality |
HP:0002376 | Developmental regression |
HP:0002562 | Low-set nipples |
HP:0002634 | Arteriosclerosis |
HP:0002664 | Neoplasm |
HP:0002671 | Basal cell carcinoma |
HP:0002705 | High, narrow palate |
HP:0002719 | Recurrent infections |
HP:0002750 | Delayed skeletal maturation |
HP:0002828 | Multiple joint contractures |
HP:0002829 | Arthralgia |
HP:0002860 | Squamous cell carcinoma |
HP:0002861 | Melanoma |
HP:0002942 | Thoracic kyphosis |
HP:0003079 | Defective DNA repair after ultraviolet radiation damage |
HP:0003139 | Panhypogammaglobulinemia |
HP:0003224 | Increased cellular sensitivity to UV light |
HP:0003355 | Aminoaciduria |
HP:0003577 | Congenital onset |
HP:0004322 | Short stature |
HP:0004326 | Cachexia |
HP:0004334 | Dermal atrophy |
HP:0004337 | Abnormality of amino acid metabolism |
HP:0004493 | Craniofacial hyperostosis |
HP:0005328 | Progeroid facial appearance |
HP:0006297 | Enamel hypoplasia |
HP:0006538 | Recurrent bronchopulmonary infections |
HP:0006739 | Squamous cell carcinoma of the skin |
HP:0006887 | Intellectual disability, progressive |
HP:0006970 | Periventricular leukomalacia |
HP:0007034 | Generalized hyperreflexia |
HP:0007108 | Demyelinating peripheral neuropathy |
HP:0007256 | Abnormal pyramidal sign |
HP:0007266 | Cerebral dysmyelination |
HP:0007381 | Congenital exfoliative erythroderma |
HP:0007479 | Congenital nonbullous ichthyosiform erythroderma |
HP:0007485 | Absence of subcutaneous fat |
HP:0007495 | Prematurely aged appearance |
HP:0007587 | Numerous pigmented freckles |
HP:0007633 | Bilateral microphthalmos |
HP:0007759 | Opacification of the corneal stroma |
HP:0008064 | Ichthyosis |
HP:0008386 | Aplasia/Hypoplasia of the nails |
HP:0008391 | Dystrophic fingernails |
HP:0008619 | Bilateral sensorineural hearing impairment |
HP:0008734 | Decreased testicular size |
HP:0009755 | Ankyloblepharon |
HP:0009830 | Peripheral neuropathy |
HP:0010551 | Paraplegia/paraparesis |
HP:0010649 | Flat nasal alae |
HP:0010783 | Erythema |
HP:0011001 | Increased bone mineral density |
HP:0011400 | Abnormal CNS myelination |
HP:0012056 | Cutaneous melanoma |
HP:0012378 | Fatigue |
HP:0012733 | Macule |
HP:0012740 | Papilloma |
HP:0012760 | Reduced social reciprocity |
HP:0025428 | Bronchospasm |
HP:0025548 | Increased mean corpuscular hemoglobin concentration |
HP:0045055 | Tiger tail banding |
HP:0100012 | Neoplasm of the eye |
HP:0100275 | Diffuse cerebellar atrophy |
HP:0100543 | Cognitive impairment |
HP:0100585 | Telangiectasia of the skin |
HP:0410219 | Hypoplasia of mandible relative to maxilla |
Disease name | MONDO ID | ICD10 | ICD10 chapter | OMIM | Orphanet |
---|---|---|---|---|---|
xeroderma pigmentosum group b | MONDO:0012531 | Q82 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:610651 | Orphanet:276252 |
trichothiodystrophy 2, photosensitive | MONDO:0014615 | L67 | chapter12, Diseases of the skin and subcutaneous tissue | OMIM:616390 |