Details for: GTF2H1

Gene ID: 2965

Symbol: GTF2H1

Ensembl ID: ENSG00000110768

Description: general transcription factor IIH subunit 1

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: 197.0488
    Cell Significance Index: -30.6500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 120.8390
    Cell Significance Index: -30.6500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 74.5569
    Cell Significance Index: -35.2000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 70.0788
    Cell Significance Index: -28.4700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 30.1861
    Cell Significance Index: -28.8200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 26.7731
    Cell Significance Index: -33.0100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 11.8035
    Cell Significance Index: -31.6200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.5123
    Cell Significance Index: -33.5900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 8.0418
    Cell Significance Index: -24.7000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.2323
    Cell Significance Index: -13.6400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.5782
    Cell Significance Index: 256.6900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.5436
    Cell Significance Index: 152.7000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.1640
    Cell Significance Index: 233.5000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.1295
    Cell Significance Index: 15.4100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.8741
    Cell Significance Index: 173.4700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8660
    Cell Significance Index: 94.2000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7792
    Cell Significance Index: 46.7800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6300
    Cell Significance Index: 225.9700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.6288
    Cell Significance Index: 16.7900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5003
    Cell Significance Index: 14.4200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.4329
    Cell Significance Index: 33.2200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4047
    Cell Significance Index: 11.3100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3843
    Cell Significance Index: 265.8300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3387
    Cell Significance Index: 41.6500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3360
    Cell Significance Index: 7.2800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3147
    Cell Significance Index: 139.1500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.3041
    Cell Significance Index: 15.8400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3032
    Cell Significance Index: 54.6500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2968
    Cell Significance Index: 40.7700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.2932
    Cell Significance Index: 12.9700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2879
    Cell Significance Index: 7.7200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2868
    Cell Significance Index: 7.1700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2823
    Cell Significance Index: 15.8400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2765
    Cell Significance Index: 12.8900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.2654
    Cell Significance Index: 10.0500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2640
    Cell Significance Index: 12.4100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2537
    Cell Significance Index: 13.1800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2424
    Cell Significance Index: 31.0700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2204
    Cell Significance Index: 6.0000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2039
    Cell Significance Index: 24.0500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1809
    Cell Significance Index: 98.8200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.1726
    Cell Significance Index: 8.7200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1703
    Cell Significance Index: 153.7500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1686
    Cell Significance Index: 7.6400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1548
    Cell Significance Index: 10.9500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1439
    Cell Significance Index: 9.9500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1174
    Cell Significance Index: 7.4000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.1060
    Cell Significance Index: 1.5700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0871
    Cell Significance Index: 1.7000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0840
    Cell Significance Index: 5.4200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0789
    Cell Significance Index: 13.4700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0649
    Cell Significance Index: 122.2900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0498
    Cell Significance Index: 31.6100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0475
    Cell Significance Index: 87.6000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0452
    Cell Significance Index: 1.5900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0421
    Cell Significance Index: 5.4500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0401
    Cell Significance Index: 1.0300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0331
    Cell Significance Index: 50.9100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0093
    Cell Significance Index: 12.5900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0096
    Cell Significance Index: -4.3400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0118
    Cell Significance Index: -8.7100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0161
    Cell Significance Index: -10.0700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0264
    Cell Significance Index: -19.9900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0273
    Cell Significance Index: -20.0100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.0301
    Cell Significance Index: -5.7400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0411
    Cell Significance Index: -23.1700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0723
    Cell Significance Index: -5.3900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0835
    Cell Significance Index: -8.5300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0879
    Cell Significance Index: -18.5200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0945
    Cell Significance Index: -1.6200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0948
    Cell Significance Index: -2.0200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0995
    Cell Significance Index: -28.6400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1122
    Cell Significance Index: -16.3100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1182
    Cell Significance Index: -13.7700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1294
    Cell Significance Index: -14.8200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1361
    Cell Significance Index: -3.5800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1387
    Cell Significance Index: -7.2800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1554
    Cell Significance Index: -2.6000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1871
    Cell Significance Index: -4.0000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2145
    Cell Significance Index: -24.4800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.2173
    Cell Significance Index: -2.5900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2330
    Cell Significance Index: -3.4400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2601
    Cell Significance Index: -9.0400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2667
    Cell Significance Index: -5.8400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2811
    Cell Significance Index: -29.2700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3035
    Cell Significance Index: -8.7000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.3440
    Cell Significance Index: -2.8100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3507
    Cell Significance Index: -27.7800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3703
    Cell Significance Index: -7.7500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3928
    Cell Significance Index: -12.5800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4676
    Cell Significance Index: -28.6700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4975
    Cell Significance Index: -10.5600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.5097
    Cell Significance Index: -14.9700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5200
    Cell Significance Index: -16.5600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5342
    Cell Significance Index: -17.4900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.5869
    Cell Significance Index: -5.4100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.5969
    Cell Significance Index: -15.2500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5977
    Cell Significance Index: -20.9400
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.6728
    Cell Significance Index: -4.0700
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.6757
    Cell Significance Index: -11.3800

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** GTF2H1 is a 60-kDa protein that belongs to the TFIID subunit family of transcription factors. It is composed of three distinct domains: a DNA-binding domain, a transcriptional activation domain, and a C-terminal domain that interacts with other TFIIH subunits. GTF2H1 is highly phosphorylated and plays a critical role in the regulation of RNA polymerase II (RNAPII) activity, which is responsible for the majority of cellular transcription. The protein is also involved in the regulation of cyclin-dependent protein kinase activity and the phosphorylation of RNAPII C-terminal domain (CTD). **Pathways and Functions** GTF2H1 is involved in several key pathways, including: 1. **Transcription**: GTF2H1 is a component of the TFIIH complex, which facilitates transcription initiation, elongation, and termination. It regulates RNAPII activity and is involved in the regulation of gene expression. 2. **DNA Repair**: GTF2H1 is involved in the regulation of DNA repair processes, including nucleotide excision repair (NER) and global genome nucleotide excision repair (GG-NER). 3. **Epigenetic Regulation**: GTF2H1 is involved in the regulation of epigenetic marks, including histone modifications and DNA methylation. 4. **Hormone-Mediated Signaling Pathways**: GTF2H1 is involved in the regulation of hormone-mediated signaling pathways, including the regulation of thyroid hormone receptor binding. 5. **RNA Processing**: GTF2H1 is involved in the regulation of RNA processing, including the regulation of RNA polymerase II CTD phosphorylation and interaction with CE. **Clinical Significance** Dysregulation of GTF2H1 has been implicated in various human diseases, including: 1. **Cancer**: GTF2H1 has been shown to be overexpressed in certain types of cancer, including lung and breast cancer. 2. **Neurological Disorders**: GTF2H1 has been implicated in the regulation of gene expression in neurons and has been linked to neurological disorders, including Alzheimer's disease and Parkinson's disease. 3. **Immunological Disorders**: GTF2H1 has been shown to play a role in the regulation of immune responses and has been implicated in immunological disorders, including autoimmune diseases and immunodeficiency disorders. In conclusion, GTF2H1 is a critical regulator of gene expression and DNA repair, and its dysregulation has been implicated in various human diseases. Further research is needed to fully understand the role of GTF2H1 in human health and disease.

Genular Protein ID: 3897392737

Symbol: TF2H1_HUMAN

Name: General transcription factor IIH subunit 1

UniProtKB Accession Codes:

P32780 B3KXE0 D3DQY2 Q6I9Y7 Q9H5K5 Q9NQD9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 12 EMDB 33 Ensembl 6 EvolutionaryTrace 1 ExpressionAtlas 1 GO 13 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 43 PDBsum 43 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 29 RefSeq 3 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1529339

Title: Cloning of the 62-kilodalton component of basic transcription factor BTF2.

PubMed ID: 1529339

DOI: 10.1126/science.1529339

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

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: 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: 10882074

Title: The FBP interacting repressor targets TFIIH to inhibit activated transcription.

PubMed ID: 10882074

DOI: 10.1016/s1097-2765(00)80428-1

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25918396

Title: A OmegaXaV motif in the Rift Valley fever virus NSs protein is essential for degrading p62, forming nuclear filaments and virulence.

PubMed ID: 25918396

DOI: 10.1073/pnas.1503688112

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: 548
  • Mass: 62032
  • Checksum: 8F0FCEBBB1FC9C1D
  • Sequence:
    • MATSSEEVLL IVKKVRQKKQ DGALYLMAER IAWAPEGKDR FTISHMYADI KCQKISPEGK 
AKIQLQLVLH AGDTTNFHFS NESTAVKERD AVKDLLQQLL PKFKRKANKE LEEKNRMLQE 
DPVLFQLYKD LVVSQVISAE EFWANRLNVN ATDSSSTSNH KQDVGISAAF LADVRPQTDG 
CNGLRYNLTS DIIESIFRTY PAVKMKYAEN VPHNMTEKEF WTRFFQSHYF HRDRLNTGSK 
DLFAECAKID EKGLKTMVSL GVKNPLLDLT ALEDKPLDEG YGISSVPSAS NSKSIKENSN 
AAIIKRFNHH SAMVLAAGLR KQEAQNEQTS EPSNMDGNSG DADCFQPAVK RAKLQESIEY 
EDLGKNNSVK TIALNLKKSD RYYHGPTPIQ SLQYATSQDI INSFQSIRQE MEAYTPKLTQ 
VLSSSAASST ITALSPGGAL MQGGTQQAIN QMVPNDIQSE LKHLYVAVGE LLRHFWSCFP 
VNTPFLEEKV VKMKSNLERF QVTKLCPFQE KIRRQYLSTN LVSHIEEMLQ TAYNKLHTWQ 
SRRLMKKT

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.