Reactome | UniProt:Q6ZYL4 GTF2H5

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UniProt:Q6ZYL4 GTF2H5 Show undefined attributes

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.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
crossReference	[DatabaseIdentifier:10973866] Pharos - Targets:Q6ZYL4 [DatabaseIdentifier:11057519] OpenTargets:ENSG00000272047 [DatabaseIdentifier:11623920] RefSeq:NP_997001.1 [DatabaseIdentifier:11786494] PDB:1YDL [DatabaseIdentifier:11786496] PDB:2JNJ [DatabaseIdentifier:11786498] PDB:5IVW [DatabaseIdentifier:11786500] PDB:5IY6 [DatabaseIdentifier:11786502] PDB:5IY7 [DatabaseIdentifier:11786504] PDB:5IY8 [DatabaseIdentifier:11786506] PDB:5IY9 [DatabaseIdentifier:11786507] PDB:5OF4 [DatabaseIdentifier:11786509] PDB:6NMI [DatabaseIdentifier:11786511] PDB:6O9L [DatabaseIdentifier:11786513] PDB:6O9M [DatabaseIdentifier:11786515] PDB:6RO4 [DatabaseIdentifier:11786517] PDB:7AD8 [DatabaseIdentifier:11786519] PDB:7EGB [DatabaseIdentifier:11786521] PDB:7EGC [DatabaseIdentifier:11786523] PDB:7ENA [DatabaseIdentifier:11786525] PDB:7ENC [DatabaseIdentifier:11786526] PDB:7LBM [DatabaseIdentifier:11786527] PDB:7NVR [DatabaseIdentifier:11786529] PDB:7NVV [DatabaseIdentifier:11786530] PDB:7NVW [DatabaseIdentifier:11786532] PDB:7NVX [DatabaseIdentifier:11786536] PDB:7NVY [DatabaseIdentifier:11786538] PDB:7NVZ [DatabaseIdentifier:11786541] PDB:7NW0 [DatabaseIdentifier:11786544] PDB:8BVW [DatabaseIdentifier:11786546] PDB:8BYQ [DatabaseIdentifier:11786548] PDB:8EBS [DatabaseIdentifier:11786550] PDB:8EBT [DatabaseIdentifier:11786555] PDB:8EBU [DatabaseIdentifier:11786557] PDB:8EBV [DatabaseIdentifier:11786559] PDB:8EBW [DatabaseIdentifier:11786564] PDB:8EBX [DatabaseIdentifier:11786568] PDB:8EBY [DatabaseIdentifier:11786570] PDB:8GXQ [DatabaseIdentifier:11786572] PDB:8GXS [DatabaseIdentifier:11818153] PRO:Q6ZYL4 [DatabaseIdentifier:11844565] GeneCards:Q6ZYL4 [DatabaseIdentifier:11882415] Orphanet:16173 [DatabaseIdentifier:11895532] HPA:ENSG00000272047-GTF2H5 [DatabaseIdentifier:12013267] Ensembl:ENST00000689809 [DatabaseIdentifier:12013268] Ensembl:ENSP00000510752 [DatabaseIdentifier:12013269] Ensembl:ENSP00000476100 [DatabaseIdentifier:12013270] Ensembl:ENST00000691867 [DatabaseIdentifier:12013271] Ensembl:ENSP00000510706 [DatabaseIdentifier:12013272] Ensembl:ENST00000607778 [DatabaseIdentifier:12013273] Ensembl:ENSG00000272047
databaseName	UniProt
dbId	250998
description	recommendedName: General transcription factor IIH subunit 5 alternativeName: General transcription factor IIH polypeptide 5 alternativeName: fullName evidence="3"TFB5 ortholog alternativeName: fullName evidence="3"TFIIH basal transcription factor complex TTD-A subunit alternativeName: fullName evidence="5"TFIIH subunit p8
displayName	UniProt:Q6ZYL4 GTF2H5
geneName	GTF2H5 C6orf175 TTDA
identifier	Q6ZYL4
isSequenceChanged	false
keyword	3D-structure Cytoplasm Disease variant DNA damage DNA repair Ichthyosis Nucleus Phosphoprotein Reference proteome Transcription Transcription regulation
modified	[InstanceEdit:12187927] Wright, Adam, 2024-03-12
name	GTF2H5
otherIdentifier	11725654_at 11725655_at 1558934_PM_a_at 1558934_a_at 17014160 213357_PM_at 213357_at 232905_3p_at 232905_PM_at 232905_at 244294_PM_at 244294_at 2797152 2797153 2933520 2933521 2933523 2933524 2933527 2933528 2933529 2933531 2933532 2933533 2933534 2933535 39162_at 404672 55467_at 57896_at 69318_at 8123038 A_24_P196117 A_32_P27763 GO:0000439 GO:0000462 GO:0005515 GO:0005634 GO:0005654 GO:0005669 GO:0005675 GO:0005730 GO:0005737 GO:0006281 GO:0006289 GO:0006294 GO:0006351 GO:0006362 GO:0006366 GO:0006367 GO:0006974 GO:0042254 GO:0043226 GO:0065003 GO:0071480 HMNXSV003012453 Hs.21530.0.A1_3p_at Hs.278626.3.A1_3p_at Hs.47193.0.S1_3p_at Hs.47193.0.S1_3p_x_at Hs2.200680.1.S1_3p_s_at ILMN_1739497 PH_hs_0035828 RNA95903\|RNS_985_98 TC06001130.hg
physicalEntity	[EntityWithAccessionedSequence:R-HSA-5688446] GTF2H5 [nucleoplasm] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8991025] ENSEMBL:ENSG00000272047 GTF2H5 [ReferenceDNASequence:11025958] KEGG Gene (Homo sapiens):404672 GTF2H5 [ReferenceDNASequence:11275392] NCBI Gene:404672 GTF2H5 [ReferenceDNASequence:11275393] BioGPS Gene:404672 GTF2H5 [ReferenceDNASequence:11275394] CTD Gene:404672 GTF2H5 [ReferenceDNASequence:11275395] dbSNP Gene:404672 GTF2H5 [ReferenceDNASequence:11275396] Monarch:404672 GTF2H5 [ReferenceDNASequence:11354782] ENSEMBL_homo_sapiens_GENE:ENSG00000272047.4 GTF2H5 [ReferenceDNASequence:11516502] UCSC:Q6ZYL4 GTF2H5 [ReferenceDNASequence:11799813] OMIM:608780 GTF2H5 [ReferenceDNASequence:11871920] HGNC:21157 GTF2H5 [ReferenceDNASequence:12189925] COSMIC (genes):GTF2H5 GTF2H5
referenceTranscript	[ReferenceRNASequence:11466805] RefSeq:NM_207118.2 GTF2H5
schemaClass	ReferenceGeneProduct
secondaryIdentifier	TF2H5_HUMAN Q0P5V8
sequenceLength	71
species	[Species:48887] Homo sapiens
url	https://purl.uniprot.org/uniprot/Q6ZYL4

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-5688446] GTF2H5 [nucleoplasm]
(interactor)	[UndirectedInteraction:12216259] UniProt:P50613 <-> UniProt:Q6ZYL4 (IntAct)