Protein Description

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

No databases found.

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