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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Enzymes Human disease related genes Plasma proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
2
Cytoband
q14.3
Chromosome location (bp)
127257290 - 127294166
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
ATP-dependent 3'-5' DNA helicase, component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA 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 ATPase activity of XPB/ERCC3, but not its helicase activity, is required for DNA opening. In transcription, TFIIH has an essential role in transcription initiation 1,2. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape 3. The ATP-dependent helicase activity of XPB/ERCC3 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....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding, Helicase, Hydrolase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair, Host-virus interaction, Transcription, Transcription regulation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
P19447 [Direct mapping] General transcription and DNA repair factor IIH helicase subunit XPB
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Enzymes ENZYME proteins Hydrolases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of skin Other congenital malformations Nervous system diseases Neurodegenerative diseases Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000112[nucleotide-excision repair factor 3 complex] GO:0000166[nucleotide binding] GO:0000439[transcription factor TFIIH core complex] GO:0000717[nucleotide-excision repair, DNA duplex unwinding] GO:0001666[response to hypoxia] GO:0003677[DNA binding] GO:0003678[DNA helicase activity] GO:0003684[damaged DNA binding] GO:0004386[helicase activity] GO:0005515[protein 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:0006265[DNA topological change] GO:0006281[DNA repair] GO:0006283[transcription-coupled nucleotide-excision repair] GO:0006289[nucleotide-excision repair] GO:0006366[transcription by RNA polymerase II] GO:0006367[transcription initiation at RNA polymerase II promoter] GO:0006368[transcription elongation by RNA polymerase II promoter] GO:0006915[apoptotic process] GO:0006974[cellular response to DNA damage stimulus] GO:0006979[response to oxidative stress] GO:0008022[protein C-terminus binding] GO:0008104[protein localization] GO:0009411[response to UV] GO:0009650[UV protection] GO:0016787[hydrolase activity] GO:0016887[ATP hydrolysis activity] GO:0035315[hair cell differentiation] GO:0043065[positive regulation of apoptotic process] GO:0043138[3'-5' DNA helicase activity] GO:0047485[protein N-terminus binding] GO:0048568[embryonic organ development] GO:0097550[transcription preinitiation complex] GO:1901990[regulation of mitotic cell cycle phase transition] GO:1990841[promoter-specific chromatin binding]
H7C309 [Direct mapping] General transcription and DNA repair factor IIH helicase subunit XPB
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Congenital malformations Congenital malformations of skin Other congenital malformations Nervous system diseases Neurodegenerative diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
A0A2R8Y762 [Direct mapping] General transcription and DNA repair factor IIH helicase subunit XPB
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Congenital malformations Congenital malformations of skin Other congenital malformations Nervous system diseases Neurodegenerative diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
