Gene Symbol | GTF2H1 |
Entrez ID | 2965 |
Uniprot ID | P32780 |
Description | general transcription factor IIH subunit 1 |
Chromosomal Location | chr11: 18,322,295-18,367,044 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0000079 |
regulation of cyclin-dependent protein serine/threonine kinase activity |
Any process that modulates the frequency, rate or extent of cyclin-dependent protein serine/threonine kinase activity. |
TAS |
BP |
GO:0000717 |
nucleotide-excision repair, DNA duplex unwinding |
The unwinding, or local denaturation, of the DNA duplex to create a bubble around the site of the DNA damage. |
TAS |
BP |
GO:0006281 |
DNA repair |
The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
TAS |
BP |
GO:0006283 |
transcription-coupled nucleotide-excision repair |
The nucleotide-excision repair process that carries out preferential repair of DNA lesions on the actively transcribed strand of the DNA duplex. In addition, the transcription-coupled nucleotide-excision repair pathway is required for the recognition and repair of a small subset of lesions that are not recognized by the global genome nucleotide excision repair pathway. |
TAS |
BP |
GO:0006293 |
nucleotide-excision repair, preincision complex stabilization |
The stabilization of the multiprotein complex involved in damage recognition, DNA helix unwinding, and endonucleolytic cleavage at the site of DNA damage as well as the unwound DNA. The stabilization of the protein-DNA complex ensures proper positioning of the preincision complex before the phosphodiester backbone of the damaged strand is cleaved 3' and 5' of the site of DNA damage. |
TAS |
BP |
GO:0006294 |
nucleotide-excision repair, preincision complex assembly |
The aggregation, arrangement and bonding together of proteins on DNA to form the multiprotein complex involved in damage recognition, DNA helix unwinding, and endonucleolytic cleavage at the site of DNA damage. This assembly occurs before the phosphodiester backbone of the damaged strand is cleaved 3' and 5' of the site of DNA damage. |
TAS |
BP |
GO:0006295 |
nucleotide-excision repair, DNA incision, 3'-to lesion |
The endonucleolytic cleavage of the damaged strand of DNA 3' to the site of damage. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound. The incision precedes the incision formed 5' to the site of damage. |
TAS |
BP |
GO:0006296 |
nucleotide-excision repair, DNA incision, 5'-to lesion |
The endonucleolytic cleavage of the damaged strand of DNA 5' to the site of damage. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound. The incision follows the incision formed 3' to the site of damage. |
TAS |
BP |
GO:0006360 |
transcription from RNA polymerase I promoter |
The synthesis of RNA from a DNA template by RNA polymerase I (RNAP I), originating at an RNAP I promoter. |
IBA |
BP |
GO:0006361 |
transcription initiation from RNA polymerase I promoter |
Any process involved in the assembly of the RNA polymerase I preinitiation complex (PIC) at an RNA polymerase I promoter region of a DNA template, resulting in the subsequent synthesis of RNA from that promoter. The initiation phase includes PIC assembly and the formation of the first few bonds in the RNA chain, including abortive initiation, which occurs when the first few nucleotides are repeatedly synthesized and then released. Promoter clearance, or release, is the transition between the initiation and elongation phases of transcription. |
TAS |
BP |
GO:0006362 |
transcription elongation from RNA polymerase I promoter |
The extension of an RNA molecule after transcription initiation and promoter clearance at an RNA polymerase I specific promoter by the addition of ribonucleotides catalyzed by RNA polymerase I. |
TAS |
BP |
GO:0006363 |
termination of RNA polymerase I transcription |
The process in which the synthesis of an RNA molecule by RNA polymerase I using a DNA template is completed. RNAP I termination requires binding of a terminator protein so specific sequences downstream of the transcription unit. |
TAS |
BP |
GO:0006366 |
transcription from RNA polymerase II promoter |
The synthesis of RNA from a DNA template by RNA polymerase II, originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
IDA|TAS |
BP |
GO:0006367 |
transcription initiation from RNA polymerase II promoter |
Any process involved in the assembly of the RNA polymerase II preinitiation complex (PIC) at an RNA polymerase II promoter region of a DNA template, resulting in the subsequent synthesis of RNA from that promoter. The initiation phase includes PIC assembly and the formation of the first few bonds in the RNA chain, including abortive initiation, which occurs when the first few nucleotides are repeatedly synthesized and then released. Promoter clearance, or release, is the transition between the initiation and elongation phases of transcription. |
TAS |
BP |
GO:0006368 |
transcription elongation from RNA polymerase II promoter |
The extension of an RNA molecule after transcription initiation and promoter clearance at an RNA polymerase II promoter by the addition of ribonucleotides catalyzed by RNA polymerase II. |
TAS |
BP |
GO:0006370 |
7-methylguanosine mRNA capping |
Addition of the 7-methylguanosine cap to the 5' end of a nascent messenger RNA transcript. |
TAS |
BP |
GO:0033683 |
nucleotide-excision repair, DNA incision |
A process that results in the endonucleolytic cleavage of the damaged strand of DNA. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound. |
TAS |
BP |
GO:0045944 |
positive regulation of transcription from RNA polymerase II promoter |
Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
IDA |
BP |
GO:0070816 |
phosphorylation of RNA polymerase II C-terminal domain |
The process of introducing a phosphate group on to an amino acid residue in the C-terminal domain of RNA polymerase II. Typically, this occurs during the transcription cycle and results in production of an RNA polymerase II enzyme where the carboxy-terminal domain (CTD) of the largest subunit is extensively phosphorylated, often referred to as hyperphosphorylated or the II(0) form. Specific types of phosphorylation within the CTD are usually associated with specific regions of genes, though there are exceptions. The phosphorylation state regulates the association of specific complexes such as the capping enzyme or 3'-RNA processing machinery to the elongating RNA polymerase complex. |
IBA |
BP |
GO:0070911 |
global genome nucleotide-excision repair |
The nucleotide-excision repair process in which DNA lesions are removed from nontranscribed strands and from transcriptionally silent regions over the entire genome. |
TAS |
CC |
GO:0000439 |
core TFIIH complex |
The 7 subunit core of TFIIH that is a part of either the general transcription factor holo-TFIIH or the nucleotide-excision repair factor 3 complex. In S. cerevisiae/humans the complex is composed of: Ssl2/XPB, Tfb1/p62, Tfb2/p52, Ssl1/p44, Tfb4/p34, Tfb5/p8 and Rad3/XPD. |
IBA |
CC |
GO:0005654 |
nucleoplasm |
That part of the nuclear content other than the chromosomes or the nucleolus. |
IDA|TAS |
CC |
GO:0005675 |
holo TFIIH complex |
A complex that is capable of kinase activity directed towards the C-terminal Domain (CTD) of the largest subunit of RNA polymerase II and is essential for initiation at RNA polymerase II promoters in vitro. It is composed of the core TFIIH complex and the TFIIK complex. |
IDA |
MF |
GO:0003682 |
chromatin binding |
Interacting selectively and non-covalently with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
IEA |
MF |
GO:0004672 |
protein kinase activity |
Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
IDA |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
MF |
GO:0008094 |
DNA-dependent ATPase activity |
Catalysis of the reaction: ATP + H2O = ADP + phosphate; this reaction requires the presence of single- or double-stranded DNA, and it drives another reaction. |
IDA |
MF |
GO:0008353 |
RNA polymerase II carboxy-terminal domain kinase activity |
Catalysis of the reaction: ATP + (DNA-directed RNA polymerase II) = ADP + phospho-(DNA-directed RNA polymerase II); phosphorylation occurs on residues in the carboxy-terminal domain (CTD) repeats. |
IDA |
Domain ID | Description |
---|---|
IPR005607 |
BSD domain |
IPR011993 |
PH domain-like |
IPR013876 |
TFIIH p62 subunit, N-terminal |
IPR027079 |
TFIIH subunit Tfb1/p62 |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa03022 |
Basal transcription factors |
KEGG |
hsa03420 |
Nucleotide excision repair |
KEGG |
hsa05203 |
Viral carcinogenesis |
KEGG |
WP405 |
Eukaryotic Transcription Initiation |
WikiPathways |
UMLS CUI | UMLS Term |
---|---|
C0031117 |
Peripheral Neuropathy |
Tissue | Cell Type |
---|---|
adrenal gland |
glandular cells |
appendix |
glandular cells |
bone marrow |
hematopoietic cells |
breast |
adipocytes |
bronchus |
respiratory epithelial cells |
caudate |
neuronal cells |
cerebellum |
cells in molecular layer |
cerebellum |
Purkinje cells |
cerebral cortex |
neuronal cells |
esophagus |
squamous epithelial cells |
gallbladder |
glandular cells |
hippocampus |
neuronal cells |
lung |
pneumocytes |
nasopharynx |
respiratory epithelial cells |
oral mucosa |
squamous epithelial cells |
placenta |
decidual cells |
placenta |
trophoblastic cells |
salivary gland |
glandular cells |
skeletal muscle |
myocytes |
skin |
fibroblasts |
skin |
keratinocytes |
skin |
Langerhans |
skin |
melanocytes |
skin |
epidermal cells |
soft tissue |
fibroblasts |
soft tissue |
adipocytes |
testis |
cells in seminiferous ducts |
thyroid gland |
glandular cells |
tonsil |
squamous epithelial cells |
urinary bladder |
urothelial cells |
vagina |
squamous epithelial cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
26459919 |
Lan et al. |
2015 |
Functional microarray analysis of differentially expressed genes in granulosa cells from women with polycystic ovary syndrome related to MAPK/ERK signaling |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
CTD |
1283 |
N/A |
0.52 |
GTF2E2 |
2961 |
P29084 |
0.52 |
MCM2 |
4171 |
P49736 |
0.52 |
PIK3R1 |
5295 |
P27986 |
0.52 |
PLCG1 |
5335 |
P19174 |
0.52 |
GTF2H4 |
2968 |
Q92759 |
0.59 |
MNAT1 |
4331 |
P51948 |
0.59 |
ERCC1 |
2067 |
P07992 |
0.63 |
HOXC11 |
3227 |
O43248 |
0.63 |
POLR2A |
5430 |
P24928 |
0.63 |
POU2AF1 |
5450 |
Q16633 |
0.63 |
RAD23B |
5887 |
P54727 |
0.63 |
RPA1 |
6117 |
P27694 |
0.63 |
RPA2 |
6118 |
P15927 |
0.63 |
BRPF1 |
7862 |
P55201 |
0.63 |
REEP5 |
7905 |
Q00765 |
0.63 |
TRIOBP |
11078 |
Q9H2D6 |
0.63 |
CCSER2 |
54462 |
Q9H7U1 |
0.63 |
USHBP1 |
83878 |
Q8N6Y0 |
0.63 |
JDP2 |
122953 |
Q8WYK2 |
0.63 |
ZSCAN1 |
284312 |
Q8NBB4 |
0.63 |
ERCC4 |
2072 |
Q92889 |
0.65 |
GTF2H1 |
2965 |
P32780 |
0.66 |
PSMC2 |
5701 |
P35998 |
0.74 |
ESR1 |
2099 |
P03372 |
0.78 |
ERCC5 |
2073 |
P28715 |
0.87 |
E2F1 |
1869 |
Q01094 |
0.88 |
ERCC2 |
2068 |
P18074 |
0.90 |
ERCC3 |
2071 |
P19447 |
0.90 |
GTF2H2 |
2966 |
Q13888 |
0.95 |
GTF2E1 |
2960 |
P29083 |
0.96 |
RB1 |
5925 |
P06400 |
0.49 |
HNRNPU |
3192 |
Q00839 |
0.52 |
ATF7IP |
55729 |
Q6VMQ6 |
0.55 |
KIF13A |
63971 |
Q9H1H9 |
0.55 |
HNF4A |
3172 |
P41235 |
0.56 |
RAD23A |
5886 |
P54725 |
0.56 |
ACTN1 |
87 |
P12814 |
0.63 |
FGL1 |
2267 |
Q08830 |
0.63 |
GTF2F1 |
2962 |
P35269 |
0.63 |
KPNA4 |
3839 |
O00629 |
0.63 |
POLR2C |
5432 |
P19387 |
0.63 |
RNF11 |
26994 |
Q9Y3C5 |
0.63 |
UVSSA |
57654 |
Q2YD98 |
0.63 |
TNIP1 |
10318 |
Q15025 |
0.65 |
MMS19 |
64210 |
Q96T76 |
0.67 |
RXRB |
6257 |
P28702 |
0.68 |
GTF2H5 |
404672 |
Q6ZYL4 |
0.72 |
GTF2H2C; GTF2H2C_2 |
728340 |
Q6P1K8 |
0.73 |
FUBP1 |
8880 |
Q96AE4 |
0.74 |
XPA |
7507 |
P23025 |
0.75 |
TXNRD2 |
10587 |
Q9NNW7 |
0.75 |
KLF1 |
10661 |
Q13351 |
0.75 |
XPC |
7508 |
Q01831 |
0.80 |
AR |
367 |
P10275 |
0.85 |
TCEA1 |
6917 |
P23193 |
0.85 |
CCNH |
902 |
P51946 |
0.86 |
GTF2H3 |
2967 |
Q13889 |
0.86 |
CDK7 |
1022 |
P50613 |
0.88 |
TP53 |
7157 |
P04637 |
0.90 |