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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.
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
12
Cytoband
q24.31
Chromosome location (bp)
123633739 - 123662604
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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. 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....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair, 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.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012]...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.
Q13889 [Direct mapping] General transcription factor IIH subunit 3
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MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000438[core TFIIH complex portion of holo TFIIH complex] GO:0000439[transcription factor TFIIH core complex] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005669[transcription factor TFIID complex] GO:0005675[transcription factor TFIIH holo complex] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006355[regulation of DNA-templated transcription] GO:0006366[transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0016251[RNA polymerase II general transcription initiation factor activity] GO:0046872[metal ion binding] GO:0047485[protein N-terminus binding] GO:0070816[phosphorylation of RNA polymerase II C-terminal domain] GO:0097550[transcription preinitiation complex]
F5H4K7 [Direct mapping] General transcription factor IIH subunit 3
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
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GO:0000439[transcription factor TFIIH core complex] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005675[transcription factor TFIIH holo complex] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006355[regulation of DNA-templated transcription] GO:0006974[cellular response to DNA damage stimulus] GO:0046872[metal ion binding] GO:0070816[phosphorylation of RNA polymerase II C-terminal domain]
Q13889 [Direct mapping] General transcription factor IIH subunit 3
Show all
MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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:0000438[core TFIIH complex portion of holo TFIIH complex] GO:0000439[transcription factor TFIIH core complex] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005669[transcription factor TFIID complex] GO:0005675[transcription factor TFIIH holo complex] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006355[regulation of DNA-templated transcription] GO:0006366[transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0016251[RNA polymerase II general transcription initiation factor activity] GO:0046872[metal ion binding] GO:0047485[protein N-terminus binding] GO:0070816[phosphorylation of RNA polymerase II C-terminal domain] GO:0097550[transcription preinitiation complex]
The Human Protein Atlas project is funded
