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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).
Disease related genes Human disease related genes
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
6
Cytoband
q25.3
Chromosome location (bp)
158168350 - 158199344
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. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell....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
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]...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 Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q6ZYL4 [Direct mapping] General transcription factor IIH subunit 5
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Other congenital malformations Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level
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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:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005669[transcription factor TFIID complex] GO:0005675[transcription factor TFIIH holo complex] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006294[nucleotide-excision repair, preincision complex assembly] GO:0006362[transcription elongation by RNA polymerase I] GO:0006366[transcription by RNA polymerase II] GO:0006367[transcription initiation at RNA polymerase II promoter] GO:0006974[cellular response to DNA damage stimulus] GO:0070816[phosphorylation of RNA polymerase II C-terminal domain] GO:0071480[cellular response to gamma radiation]
A0A3B3ISL4 [Direct mapping] General transcription factor IIH subunit 5
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Skin diseases Skin and soft tissue diseases
A0A8I5KQH8 [Direct mapping] General transcription factor IIH subunit 5
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Skin diseases Skin and soft tissue diseases
Q6ZYL4 [Direct mapping] General transcription factor IIH subunit 5
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Other congenital malformations Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level
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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:0005730[nucleolus] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006294[nucleotide-excision repair, preincision complex assembly] GO:0006366[transcription by RNA polymerase II] GO:0006367[transcription initiation at RNA polymerase II promoter] GO:0006974[cellular response to DNA damage stimulus] GO:0070816[phosphorylation of RNA polymerase II C-terminal domain]
Q6ZYL4 [Direct mapping] General transcription factor IIH subunit 5
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Other congenital malformations Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
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:0005730[nucleolus] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006294[nucleotide-excision repair, preincision complex assembly] GO:0006366[transcription by RNA polymerase II] GO:0006367[transcription initiation at RNA polymerase II promoter] GO:0006974[cellular response to DNA damage stimulus] GO:0070816[phosphorylation of RNA polymerase II C-terminal domain]
The Human Protein Atlas project is funded
