Details for: GTF2H3

Gene ID: 2967

Symbol: GTF2H3

Ensembl ID: ENSG00000111358

Description: general transcription factor IIH subunit 3

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 145.3597
    Cell Significance Index: -22.6100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 90.2645
    Cell Significance Index: -22.9000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 55.6000
    Cell Significance Index: -26.2500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 52.2575
    Cell Significance Index: -21.2300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 22.3620
    Cell Significance Index: -21.3500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 20.3008
    Cell Significance Index: -25.0300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.3435
    Cell Significance Index: -25.0300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.4672
    Cell Significance Index: -25.5200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.8376
    Cell Significance Index: -17.9300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 4.0428
    Cell Significance Index: 399.9200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 2.3455
    Cell Significance Index: 162.2000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.7913
    Cell Significance Index: 24.4400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.4821
    Cell Significance Index: 88.9800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.2112
    Cell Significance Index: 196.9900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8917
    Cell Significance Index: 178.8800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.8272
    Cell Significance Index: 164.1700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.7516
    Cell Significance Index: 20.0700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5945
    Cell Significance Index: 73.1000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5348
    Cell Significance Index: 96.4100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5112
    Cell Significance Index: 183.3500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4478
    Cell Significance Index: 23.2600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4250
    Cell Significance Index: 232.1200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3563
    Cell Significance Index: 157.5500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3365
    Cell Significance Index: 46.2100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.3306
    Cell Significance Index: 23.3800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2903
    Cell Significance Index: 6.2900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.2790
    Cell Significance Index: 12.3400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2462
    Cell Significance Index: 15.1300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2442
    Cell Significance Index: 46.4700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2417
    Cell Significance Index: 15.2400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2339
    Cell Significance Index: 6.7400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.2329
    Cell Significance Index: 8.8200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2163
    Cell Significance Index: 195.2800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1852
    Cell Significance Index: 5.1800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1666
    Cell Significance Index: 7.5500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1596
    Cell Significance Index: 18.8200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1437
    Cell Significance Index: 99.3700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.1424
    Cell Significance Index: 7.4200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1173
    Cell Significance Index: 5.4700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1052
    Cell Significance Index: 6.7900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0817
    Cell Significance Index: 6.2700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0738
    Cell Significance Index: 9.4600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0531
    Cell Significance Index: 1.1300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0448
    Cell Significance Index: 1.2200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0226
    Cell Significance Index: 42.4900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0188
    Cell Significance Index: 0.6600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0180
    Cell Significance Index: 1.2100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0105
    Cell Significance Index: 0.1800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0091
    Cell Significance Index: 14.0200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0051
    Cell Significance Index: 9.3700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0022
    Cell Significance Index: 1.3800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0023
    Cell Significance Index: -0.1300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0054
    Cell Significance Index: -7.3500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0154
    Cell Significance Index: -11.3100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0168
    Cell Significance Index: -7.6100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0188
    Cell Significance Index: -14.2400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0287
    Cell Significance Index: -21.2700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0314
    Cell Significance Index: -4.5600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0336
    Cell Significance Index: -0.9000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0432
    Cell Significance Index: -24.3500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0466
    Cell Significance Index: -2.1900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0480
    Cell Significance Index: -29.9600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0540
    Cell Significance Index: -9.2200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0566
    Cell Significance Index: -5.7800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0712
    Cell Significance Index: -20.5000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0805
    Cell Significance Index: -9.3800
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.0810
    Cell Significance Index: -0.6800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0831
    Cell Significance Index: -10.7400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0906
    Cell Significance Index: -3.1500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1230
    Cell Significance Index: -9.1700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1419
    Cell Significance Index: -29.8900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1496
    Cell Significance Index: -17.1400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1614
    Cell Significance Index: -3.8700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1660
    Cell Significance Index: -4.4400
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1904
    Cell Significance Index: -4.4000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1910
    Cell Significance Index: -5.6100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2262
    Cell Significance Index: -23.5500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2286
    Cell Significance Index: -3.8300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2322
    Cell Significance Index: -12.1900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2369
    Cell Significance Index: -6.2300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2690
    Cell Significance Index: -5.8900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2703
    Cell Significance Index: -21.4100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2779
    Cell Significance Index: -7.9300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2812
    Cell Significance Index: -7.0300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.3106
    Cell Significance Index: -3.2200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3184
    Cell Significance Index: -8.1900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3229
    Cell Significance Index: -8.2500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3444
    Cell Significance Index: -4.1100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3597
    Cell Significance Index: -22.0500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3758
    Cell Significance Index: -12.0400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3816
    Cell Significance Index: -8.1000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3833
    Cell Significance Index: -3.5300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.4051
    Cell Significance Index: -8.4800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.4340
    Cell Significance Index: -8.4700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4543
    Cell Significance Index: -14.4700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4670
    Cell Significance Index: -15.2900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4689
    Cell Significance Index: -13.4400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.5329
    Cell Significance Index: -6.6100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5339
    Cell Significance Index: -18.7100
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.5590
    Cell Significance Index: -6.9700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** GTF2H3 is a highly conserved protein that shares high sequence identity with other TFIIH subunits across species. It is a phosphoprotein that undergoes dynamic phosphorylation events, which are essential for its function in the TFIIH complex. GTF2H3 has a unique structure, with four distinct domains: a C-terminal domain, a central domain, a N-terminal domain, and a helix-turn-helix (HTH) domain. The HTH domain is particularly important for the recognition of DNA sequences and the recruitment of RNAPII to the transcription start site. **Pathways and Functions** GTF2H3 plays a critical role in several cellular processes, including: 1. **Transcription Initiation and Elongation**: GTF2H3 is essential for the recruitment of RNAPII to specific DNA sequences, unwinding DNA, and synthesizing RNA transcripts. It interacts with other TFIIH subunits, such as TFIIA, TFIIB, and TFIIF, to facilitate the initiation and elongation of transcription. 2. **DNA Repair**: GTF2H3 has been implicated in the regulation of DNA repair pathways, including nucleotide excision repair (NER) and global genome nucleotide excision repair (GG-NER). It interacts with proteins involved in these pathways, such as XPB and XPD, to facilitate the repair of DNA damage. 3. **Epigenetic Regulation**: GTF2H3 has been shown to interact with epigenetic regulators, such as histone modifiers and DNA methyltransferases, to regulate gene expression and chromatin structure. 4. **Viral Infection**: GTF2H3 has been implicated in the regulation of HIV-1 transcription and replication. It interacts with viral proteins, such as Tat and Rev, to facilitate the transcription and processing of HIV-1 RNA. **Clinical Significance** Dysregulation of GTF2H3 has been implicated in various diseases, including: 1. **Cancer**: GTF2H3 mutations have been identified in several types of cancer, including breast, lung, and colon cancer. 2. **Neurodegenerative Disorders**: GTF2H3 has been implicated in the regulation of gene expression in neurons, and dysregulation of GTF2H3 has been associated with neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. 3. **Infectious Diseases**: GTF2H3 has been implicated in the regulation of HIV-1 transcription and replication, and dysregulation of GTF2H3 has been associated with HIV-1 latency and resistance to antiretroviral therapy. In conclusion, GTF2H3 is a critical component of the TFIIH complex, and its dysregulation has been implicated in various diseases. Further research is needed to fully understand the mechanisms by which GTF2H3 regulates transcription and DNA repair, and to explore its potential as a therapeutic target for the treatment of human diseases.

Genular Protein ID: 921879314

Symbol: TF2H3_HUMAN

Name: General transcription factor IIH subunit 3

UniProtKB Accession Codes:

Q13889 B2R819 B4DNZ6 Q7L0G0 Q96AT7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 EMDB 16 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 13 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 42 PDBsum 42 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 29 RefSeq 4 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8194529

Title: p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair.

PubMed ID: 8194529

DOI: 10.1002/j.1460-2075.1994.tb06523.x

PubMed ID: 9852112

Title: Immunoaffinity purification and functional characterization of human transcription factor IIH and RNA polymerase II from clonal cell lines that conditionally express epitope-tagged subunits of the multiprotein complexes.

PubMed ID: 9852112

DOI: 10.1074/jbc.273.51.34444

PubMed ID: 10024882

Title: Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7.

PubMed ID: 10024882

DOI: 10.1016/s1097-2765(00)80177-x

PubMed ID: 27193682

Title: Near-atomic resolution visualization of human transcription promoter opening.

PubMed ID: 27193682

DOI: 10.1038/nature17970

PubMed ID: 31253769

Title: Structural basis of TFIIH activation for nucleotide excision repair.

PubMed ID: 31253769

DOI: 10.1038/s41467-019-10745-5

PubMed ID: 33902107

Title: Structures of mammalian RNA polymerase II pre-initiation complexes.

PubMed ID: 33902107

DOI: 10.1038/s41586-021-03554-8

Sequence Information:

  • Length: 308
  • Mass: 34378
  • Checksum: E739E2176CD6BAA5
  • Sequence:
    • MVSDEDELNL LVIVVDANPI WWGKQALKES QFTLSKCIDA VMVLGNSHLF MNRSNKLAVI 
ASHIQESRFL YPGKNGRLGD FFGDPGNPPE FNPSGSKDGK YELLTSANEV IVEEIKDLMT 
KSDIKGQHTE TLLAGSLAKA LCYIHRMNKE VKDNQEMKSR ILVIKAAEDS ALQYMNFMNV 
IFAAQKQNIL IDACVLDSDS GLLQQACDIT GGLYLKVPQM PSLLQYLLWV FLPDQDQRSQ 
LILPPPVHVD YRAACFCHRN LIEIGYVCSV CLSIFCNFSP ICTTCETAFK ISLPPVLKAK 
KKKLKVSA

Genular Protein ID: 1505869691

Symbol: A0A087WYD5_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A087WYD5

Database IDs:

ARBA 5 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 6 Gene3D 1 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 2 MassIVE 1 NCBI Taxonomy 1 OMA 1 OrthoDB 1 PANTHER 2 PeptideAtlas 2 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 2 RuleBase 1 SMR 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

Sequence Information:

  • Length: 162
  • Mass: 18218
  • Checksum: 16BD8643F24A6C8F
  • Sequence:
    • MNKEVKDNQE MKSRILVIKA AEDSALQYMN FMNVIFAAQK QNILIDACVL DSDSGLLQQA 
CDITGGLYLK VPQMPSLLQY LLWVFLPDQD QRSQLILPPP VHVDYRAACF CHRNLIEIGY 
VCSVCLSIFC NFSPICTTCE TAFKISLPPV LKAKKKKLKV SA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.