GTF2H1 (general transcription factor IIH subunit 1)

2003-12-01  

Identity

HGNC
GTF2H1
LOCATION
11p15.1
LOCUSID
2965
ALIAS
BTF2,P62,TFB1,TFIIH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2965
MIM: 189972
HGNC: 4655
Ensembl: ENSG00000110768

Variants:

dbSNP: 2965
ClinVar: 2965
TCGA: ENSG00000110768
COSMIC: GTF2H1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110768ENST00000265963P32780
ENSG00000110768ENST00000265963A0A384MTQ8
ENSG00000110768ENST00000453096P32780
ENSG00000110768ENST00000453096A0A384MTQ8
ENSG00000110768ENST00000524753E9PI26
ENSG00000110768ENST00000525831E9PL58
ENSG00000110768ENST00000526630F5H0Y9
ENSG00000110768ENST00000530496E9PM51
ENSG00000110768ENST00000534641P32780

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Basal transcription factorsKEGGko03022
Nucleotide excision repairKEGGko03420
Basal transcription factorsKEGGhsa03022
Nucleotide excision repairKEGGhsa03420
Holo-TFIIH complexKEGGhsa_M00290
Viral carcinogenesisKEGGhsa05203
Viral carcinogenesisKEGGko05203
Holo-TFIIH complexKEGGM00290
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
HIV Life CycleREACTOMER-HSA-162587
Late Phase of HIV Life CycleREACTOMER-HSA-162599
Transcription of the HIV genomeREACTOMER-HSA-167172
HIV Transcription InitiationREACTOMER-HSA-167161
RNA Polymerase II HIV Promoter EscapeREACTOMER-HSA-167162
RNA Pol II CTD phosphorylation and interaction with CE during HIV infectionREACTOMER-HSA-167160
HIV Transcription ElongationREACTOMER-HSA-167169
Formation of the HIV-1 Early Elongation ComplexREACTOMER-HSA-167158
Tat-mediated elongation of the HIV-1 transcriptREACTOMER-HSA-167246
Formation of HIV-1 elongation complex containing HIV-1 TatREACTOMER-HSA-167200
Formation of HIV elongation complex in the absence of HIV TatREACTOMER-HSA-167152
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionREACTOMER-HSA-504046
RNA Polymerase I TranscriptionREACTOMER-HSA-73864
RNA Polymerase I Promoter ClearanceREACTOMER-HSA-73854
RNA Polymerase I Transcription InitiationREACTOMER-HSA-73762
RNA Polymerase I Promoter EscapeREACTOMER-HSA-73772
RNA Polymerase I Chain ElongationREACTOMER-HSA-73777
RNA Polymerase I Transcription TerminationREACTOMER-HSA-73863
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Pre-transcription EventsREACTOMER-HSA-674695
RNA Polymerase II Transcription Pre-Initiation And Promoter OpeningREACTOMER-HSA-73779
RNA Polymerase II Transcription Initiation And Promoter ClearanceREACTOMER-HSA-76042
RNA Polymerase II Transcription InitiationREACTOMER-HSA-75953
RNA Polymerase II Promoter EscapeREACTOMER-HSA-73776
RNA Pol II CTD phosphorylation and interaction with CEREACTOMER-HSA-77075
RNA Polymerase II Transcription ElongationREACTOMER-HSA-75955
Formation of the Early Elongation ComplexREACTOMER-HSA-113418
Formation of RNA Pol II elongation complexREACTOMER-HSA-112382
mRNA CappingREACTOMER-HSA-72086
Epigenetic regulation of gene expressionREACTOMER-HSA-212165
Negative epigenetic regulation of rRNA expressionREACTOMER-HSA-5250941
NoRC negatively regulates rRNA expressionREACTOMER-HSA-427413
DNA RepairREACTOMER-HSA-73894
Nucleotide Excision RepairREACTOMER-HSA-5696398
Global Genome Nucleotide Excision Repair (GG-NER)REACTOMER-HSA-5696399
Formation of Incision Complex in GG-NERREACTOMER-HSA-5696395
Dual Incision in GG-NERREACTOMER-HSA-5696400
Transcription-Coupled Nucleotide Excision Repair (TC-NER)REACTOMER-HSA-6781827
Formation of TC-NER Pre-Incision ComplexREACTOMER-HSA-6781823
Dual incision in TC-NERREACTOMER-HSA-6782135
Gap-filling DNA repair synthesis and ligation in TC-NERREACTOMER-HSA-6782210
TP53 Regulates Transcription of DNA Repair GenesREACTOMER-HSA-6796648

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
374425072023Structural characterization of transcription-coupled repair protein UVSSA and its interaction with TFIIH protein.1
374425072023Structural characterization of transcription-coupled repair protein UVSSA and its interaction with TFIIH protein.1
342685772022Three human RNA polymerases interact with TFIIH via a common RPB6 subunit.7
363845362022Impact of GTF2H1 and RAD54L2 polymorphisms on the risk of lung cancer in the Chinese Han population.1
342685772022Three human RNA polymerases interact with TFIIH via a common RPB6 subunit.7
363845362022Impact of GTF2H1 and RAD54L2 polymorphisms on the risk of lung cancer in the Chinese Han population.1
332118772021Structural and dynamical insights into the PH domain of p62 in human TFIIH.5
332118772021Structural and dynamical insights into the PH domain of p62 in human TFIIH.5
331664112020The TFIIH subunits p44/p62 act as a damage sensor during nucleotide excision repair.10
331664112020The TFIIH subunits p44/p62 act as a damage sensor during nucleotide excision repair.10
306515972019Lineage-specific control of TFIIH by MITF determines transcriptional homeostasis and DNA repair.10
308945452019Functional interplay between TFIIH and KAT2A regulates higher-order chromatin structure and class II gene expression.8
306515972019Lineage-specific control of TFIIH by MITF determines transcriptional homeostasis and DNA repair.10
308945452019Functional interplay between TFIIH and KAT2A regulates higher-order chromatin structure and class II gene expression.8
302878122018DNA damage sensitivity of SWI/SNF-deficient cells depends on TFIIH subunit p62/GTF2H1.19

Citation

Dessen P

GTF2H1 (general transcription factor IIH subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40778/js/js/lib/js/lib/jquery-3.5.1.min.js