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Details on Person UniProt:Q6ZYL4 GTF2H5
| Class:Id | ReferenceGeneProduct:250998 |
|---|---|
| _chainChangeLog | chain:1-71 added on Fri February 6 2015 |
| _displayName | UniProt:Q6ZYL4 GTF2H5 |
| _timestamp | 2024-11-03 19:58:56 |
| chain | chain:1-71 |
| checksum | DBEB4D3C9BFA2C54 |
| comment | FUNCTION 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.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. 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:15220921). 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 (PubMed:27193682).INTERACTION The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the TFB5 family. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: General transcription factor IIH subunit 5 alternativeName: General transcription factor IIH polypeptide 5 alternativeName: fullName evidence="5"TFB5 ortholog alternativeName: fullName evidence="5"TFIIH basal transcription factor complex TTD-A subunit alternativeName: fullName evidence="7"TFIIH subunit p8 |
| geneName | GTF2H5 C6orf175 TTDA |
| identifier | Q6ZYL4 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Cytoplasm Disease variant DNA damage DNA repair Ichthyosis Nucleus Phosphoprotein Proteomics identification Reference proteome Transcription Transcription regulation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9909836] Weiser, Joel, 2024-05-14 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | GTF2H5 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8991025] ENSEMBL:ENSG00000272047 GTF2H5 [Homo sapiens] |
| secondaryIdentifier | TF2H5_HUMAN Q0P5V8 |
| sequenceLength | 71 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:5688446] GTF2H5 [nucleoplasm] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q6ZYL4 GTF2H5 (250998)
