Description: Homo sapiens general transcription factor IIH, polypeptide 5 (GTF2H5), mRNA. RefSeq Summary (NM_207118): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Transcript (Including UTRs) Position: hg19 chr6:158,589,379-158,620,376 Size: 30,998 Total Exon Count: 3 Strand: + Coding Region Position: hg19 chr6:158,591,536-158,613,189 Size: 21,654 Coding Exon Count: 2
ID:TF2H5_HUMAN DESCRIPTION: RecName: Full=General transcription factor IIH subunit 5; AltName: Full=General transcription factor IIH polypeptide 5; AltName: Full=TFB5 ortholog; AltName: Full=TFIIH basal transcription factor complex TTD-A subunit; FUNCTION: Component of the TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell. SUBUNIT: Subunit of the TFIIH basal transcription factor complex that contains ERCC2, ERCC3, GTF2H1, GTF2H2, GTF2H3, GTF2H4, GTF2H5, MNAT1, CDK7 and CCNH. SUBCELLULAR LOCATION: Nucleus. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in GTF2H5 are a cause of trichothiodystrophy photosensitive (TTDP) [MIM:601675]. TTDP is an autosomal recessive disease characterized by sulfur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual development, abnormal facies and cutaneous photosensitivity correlated with a nucleotide excision repair (NER) defect. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane. The severity of the ichthyosis after the membrane is shed is variable, ranging from a mild to severe lamellar ichthyotic phenotype. There are no reports of skin cancer associated with TTDP. SIMILARITY: Belongs to the TFB5 family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6ZYL4
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
LF385158 - JP 2014500723-A/192661: Polycomb-Associated Non-Coding RNAs. AK055106 - Homo sapiens cDNA FLJ30544 fis, clone BRAWH2001412. BC056906 - Homo sapiens general transcription factor IIH, polypeptide 5, mRNA (cDNA clone MGC:65153 IMAGE:4446165), complete cds. AJ634743 - Homo sapiens mRNA for TFIIH basal transcription factor complex TTDA subunit (TTDA gene). BC038848 - Homo sapiens general transcription factor IIH, polypeptide 5, mRNA (cDNA clone IMAGE:6057570), **** WARNING: chimeric clone ****. BC060317 - Homo sapiens general transcription factor IIH, polypeptide 5, mRNA (cDNA clone MGC:75182 IMAGE:4345335), complete cds. AB464555 - Synthetic construct DNA, clone: pF1KB8849, Homo sapiens GTF2H5 gene for general transcription factor IIH, polypeptide 5, without stop codon, in Flexi system. EU446604 - Synthetic construct Homo sapiens clone IMAGE:100070132; IMAGE:100011813; FLH257465.01L general transcription factor IIH, polypeptide 5 (GTF2H5) gene, encodes complete protein. KJ896262 - Synthetic construct Homo sapiens clone ccsbBroadEn_05656 GTF2H5 gene, encodes complete protein. KR711109 - Synthetic construct Homo sapiens clone CCSBHm_00020330 GTF2H5 (GTF2H5) mRNA, encodes complete protein. BC004568 - Homo sapiens general transcription factor IIH, polypeptide 5, mRNA (cDNA clone IMAGE:3640720), partial cds. MA620735 - JP 2018138019-A/192661: Polycomb-Associated Non-Coding RNAs. LF340069 - JP 2014500723-A/147572: Polycomb-Associated Non-Coding RNAs. LF340070 - JP 2014500723-A/147573: Polycomb-Associated Non-Coding RNAs. LF340071 - JP 2014500723-A/147574: Polycomb-Associated Non-Coding RNAs. JD359930 - Sequence 340954 from Patent EP1572962. JD418322 - Sequence 399346 from Patent EP1572962. LF340072 - JP 2014500723-A/147575: Polycomb-Associated Non-Coding RNAs. AK024874 - Homo sapiens cDNA: FLJ21221 fis, clone COL00570. JD335425 - Sequence 316449 from Patent EP1572962. JD388489 - Sequence 369513 from Patent EP1572962. JD142555 - Sequence 123579 from Patent EP1572962. JD497756 - Sequence 478780 from Patent EP1572962. JD159614 - Sequence 140638 from Patent EP1572962. JD560870 - Sequence 541894 from Patent EP1572962. JD542358 - Sequence 523382 from Patent EP1572962. JD211812 - Sequence 192836 from Patent EP1572962. JD093045 - Sequence 74069 from Patent EP1572962. JD230002 - Sequence 211026 from Patent EP1572962. JD281956 - Sequence 262980 from Patent EP1572962. JD296383 - Sequence 277407 from Patent EP1572962. JD269554 - Sequence 250578 from Patent EP1572962. JD189764 - Sequence 170788 from Patent EP1572962. JD318867 - Sequence 299891 from Patent EP1572962. JD364510 - Sequence 345534 from Patent EP1572962. JD451484 - Sequence 432508 from Patent EP1572962. JD534407 - Sequence 515431 from Patent EP1572962. U92025 - Human clone 279131 defective mariner transposon Hsmar2 mRNA sequence. U92024 - Human clone 27609 defective mariner transposon Hsmar2 mRNA sequence. JD045479 - Sequence 26503 from Patent EP1572962. JD348433 - Sequence 329457 from Patent EP1572962. JD557610 - Sequence 538634 from Patent EP1572962. JD181726 - Sequence 162750 from Patent EP1572962. AK129771 - Homo sapiens cDNA FLJ26260 fis, clone DMC05193. MA575646 - JP 2018138019-A/147572: Polycomb-Associated Non-Coding RNAs. MA575647 - JP 2018138019-A/147573: Polycomb-Associated Non-Coding RNAs. MA575648 - JP 2018138019-A/147574: Polycomb-Associated Non-Coding RNAs. MA575649 - JP 2018138019-A/147575: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa03420 - Nucleotide excision repair
Reactome (by CSHL, EBI, and GO)
Protein Q6ZYL4 (Reactome details) participates in the following event(s):
R-HSA-73758 Recruitment of Active RNA Polymerase I to SL1:phos.UBF-1:rDNA Promoter R-HSA-109639 Formation of the closed pre-initiation complex R-HSA-112379 Recruitment of elongation factors to form elongation complex R-HSA-112383 Hypophosphorylation of RNA Pol II CTD by FCP1P protein R-HSA-167072 Hypophosphorylation of RNA Pol II CTD by FCP1P protein R-HSA-167077 Recruitment of elongation factors to form HIV-1 elongation complex R-HSA-167196 Recruitment of elongation factors to form HIV-1 elongation complex R-HSA-5691000 TFIIH binds GG-NER site to form a verification complex R-HSA-73946 Abortive initiation R-HSA-75856 Abortive Initiation Before Second Transition R-HSA-75891 Abortive Initiation After Second Transition R-HSA-77090 Methylation of GMP-cap by RNA Methyltransferase R-HSA-112385 Addition of nucleotides leads to transcript elongation R-HSA-167181 Addition of nucleotides leads to HIV-1 transcript elongation R-HSA-167468 Abortive HIV-1 Initiation After Second Transition R-HSA-167474 Abortive HIV-1 Initiation Before Second Transition R-HSA-167477 Abortive HIV-1 initiation after formation of the first phosphodiester bond R-HSA-5690988 3'-incision of DNA by ERCC5 (XPG) in GG-NER R-HSA-73769 Loss of Rrn3 from RNA Polymerase I promoter escape complex R-HSA-74994 Polymerase I Transcription Complex/Nascent Pre rRNA Complex pauses at the TTF-I:Sal Box R-HSA-74992 Dissociation of PTRF:Polymerase I/Nascent Pre rRNA Complex:TTF-I:Sal Box R-HSA-75873 Addition of Nucleotides 5 through 9 on the growing Transcript R-HSA-76576 Addition of nucleotides 10 and 11 on the growing transcript: Third Transition R-HSA-111264 Addition of nucleotides between position +11 and +30 R-HSA-77068 Activation of GT R-HSA-77069 RNA Polymerase II CTD (phosphorylated) binds to CE R-HSA-77073 SPT5 subunit of Pol II binds the RNA triphosphatase (RTP) R-HSA-77077 Capping complex formation R-HSA-75864 Newly Formed Phosphodiester Bond Stabilized and PPi Released R-HSA-75866 Nucleophillic Attack by 3'-hydroxyl Oxygen of nascent transcript on the Alpha Phosphate of NTP R-HSA-75949 RNA Polymerase II Promoter Opening: First Transition R-HSA-75862 Fall Back to Closed Pre-initiation Complex R-HSA-75861 NTP Binds Active Site of RNA Polymerase II R-HSA-113430 Extrusion of 5'-end of 30 nt long transcript through the pore in Pol II complex R-HSA-77071 Phosphorylation (Ser5) of RNA pol II CTD R-HSA-167117 Addition of nucleotides 10 and 11 on the growing HIV-1 transcript: Third Transition R-HSA-167136 Addition of nucleotides 5 through 9 on the growing HIV-1 transcript R-HSA-167134 Newly formed phosphodiester bond stabilized and PPi released R-HSA-167098 Phosphorylation (Ser5) of RNA pol II CTD R-HSA-167111 Extrusion of 5'-end of 30 nt long HIV-1 transcript through the pore in Pol II complex R-HSA-167130 Nucleophillic attack by 3'-hydroxyl oxygen of nascent HIV-1 transcript on the Alpha phosphate of NTP R-HSA-167133 Activation of GT R-HSA-167128 RNA Polymerase II CTD (phosphorylated) binds to CE R-HSA-167115 Addition of nucleotides between position +11 and +30 on HIV-1 transcript R-HSA-167153 SPT5 subunit of Pol II binds the RNA triphosphatase (RTP) R-HSA-167097 HIV Promoter Opening: First Transition R-HSA-167484 Fall Back to Closed Pre-initiation Complex R-HSA-167118 NTP binds active site of RNA Polymerase II in HIV-1 open pre-initiation complex R-HSA-5689861 Recruitment of XPA and release of CAK R-HSA-6781840 ERCC6 binds stalled RNA Pol II R-HSA-6782211 DNA polymerases delta, epsilon or kappa bind the TC-NER site R-HSA-6782204 5' incision of damaged DNA strand by ERCC1:ERCC4 in TC-NER R-HSA-6782224 3' incision by ERCC5 (XPG) in TC-NER R-HSA-6782227 Ligation of newly synthesized repair patch to incised DNA in TC-NER R-HSA-6782208 Repair DNA synthesis of ~27-30 bases long patch by POLD, POLE or POLK in TC-NER R-HSA-6797616 CCNK:CDK12 binds RNA Pol II at DNA repair genes R-HSA-5696670 CHD1L is recruited to GG-NER site R-HSA-5690213 DNA polymerases delta, epsilon or kappa bind the GG-NER site R-HSA-6790454 SUMOylation of XPC R-HSA-5690996 ERCC2 and ERCC3 DNA helicases form an open bubble structure in damaged DNA R-HSA-5690990 5'- incision of DNA by ERCC1:ERCC4 in GG-NER R-HSA-6790487 RNF111 ubiquitinates SUMOylated XPC R-HSA-5689317 Formation of the pre-incision complex in GG-NER R-HSA-74993 PTRF Binds the Polymerase I Transcription Complex/Nascent Pre rRNA Complex paused at the TTF-I:Sal Box R-HSA-74986 Elongation of pre-rRNA transcript R-HSA-427366 Transcription of intergenic spacer of the rRNA gene R-HSA-77078 Hydrolysis of the 5'-end of the nascent transcript by the capping enzyme R-HSA-77081 Formation of the CE:GMP intermediate complex R-HSA-77085 Dissociation of transcript with 5'-GMP from GT R-HSA-77083 Transfer of GMP from the capping enzyme GT site to 5'-end of mRNA R-HSA-6781833 ERCC8 (CSA) binds stalled RNA Pol II R-HSA-6797606 CDK12 phosphorylates RNA Pol II CTD at DNA repair genes R-HSA-5690991 Binding of ERCC1:ERCC4 (ERCC1:XPF) to pre-incision complex in GG-NER R-HSA-6781867 ERCC8:DDB1:CUL4:RBX1 ubiquitinates ERCC6 and RNA Pol II R-HSA-6782004 Assembly of the pre-incision complex in TC-NER R-HSA-6782069 UVSSA:USP7 deubiquitinates ERCC6 R-HSA-6782131 RNA Pol II backtracking in TC-NER R-HSA-6782138 ERCC5 and RPA bind TC-NER site R-HSA-6782141 Binding of ERCC1:ERCC4 (ERCC1:XPF) to pre-incision complex in TC-NER R-HSA-73762 RNA Polymerase I Transcription Initiation R-HSA-73779 RNA Polymerase II Transcription Pre-Initiation And Promoter Opening R-HSA-112382 Formation of RNA Pol II elongation complex R-HSA-113418 Formation of the Early Elongation Complex R-HSA-167158 Formation of the HIV-1 Early Elongation Complex R-HSA-167152 Formation of HIV elongation complex in the absence of HIV Tat R-HSA-167200 Formation of HIV-1 elongation complex containing HIV-1 Tat R-HSA-5696395 Formation of Incision Complex in GG-NER R-HSA-6781823 Formation of TC-NER Pre-Incision Complex R-HSA-674695 RNA Polymerase II Pre-transcription Events R-HSA-72086 mRNA Capping R-HSA-75955 RNA Polymerase II Transcription Elongation R-HSA-167246 Tat-mediated elongation of the HIV-1 transcript R-HSA-167162 RNA Polymerase II HIV Promoter Escape R-HSA-167161 HIV Transcription Initiation R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER) R-HSA-5696400 Dual Incision in GG-NER R-HSA-73772 RNA Polymerase I Promoter Escape R-HSA-73863 RNA Polymerase I Transcription Termination R-HSA-73776 RNA Polymerase II Promoter Escape R-HSA-77075 RNA Pol II CTD phosphorylation and interaction with CE R-HSA-75953 RNA Polymerase II Transcription Initiation R-HSA-76042 RNA Polymerase II Transcription Initiation And Promoter Clearance R-HSA-167160 RNA Pol II CTD phosphorylation and interaction with CE during HIV infection R-HSA-167172 Transcription of the HIV genome R-HSA-6782135 Dual incision in TC-NER R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes R-HSA-73854 RNA Polymerase I Promoter Clearance R-HSA-73857 RNA Polymerase II Transcription R-HSA-167169 HIV Transcription Elongation R-HSA-5696399 Global Genome Nucleotide Excision Repair (GG-NER) R-HSA-8953854 Metabolism of RNA R-HSA-5696398 Nucleotide Excision Repair R-HSA-73864 RNA Polymerase I Transcription R-HSA-73777 RNA Polymerase I Chain Elongation R-HSA-427413 NoRC negatively regulates rRNA expression R-HSA-162599 Late Phase of HIV Life Cycle R-HSA-3700989 Transcriptional Regulation by TP53 R-HSA-74160 Gene expression (Transcription) R-HSA-73894 DNA Repair R-HSA-5250941 Negative epigenetic regulation of rRNA expression R-HSA-162587 HIV Life Cycle R-HSA-212436 Generic Transcription Pathway R-HSA-212165 Epigenetic regulation of gene expression R-HSA-162906 HIV Infection R-HSA-5663205 Infectious disease R-HSA-1643685 Disease
US Server
