Gene Symbol | ERCC4 |
Entrez ID | 2072 |
Uniprot ID | Q92889 |
Description | excision repair cross-complementation group 4 |
Chromosomal Location | chr16: 13,920,157-13,952,345 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0000712 |
resolution of meiotic recombination intermediates |
The cleavage and rejoining of intermediates, such as Holliday junctions, formed during meiotic recombination to produce two intact molecules in which genetic material has been exchanged. |
IBA |
BP |
GO:0000723 |
telomere maintenance |
Any process that contributes to the maintenance of proper telomeric length and structure by affecting and monitoring the activity of telomeric proteins, the length of telomeric DNA and the replication and repair of the DNA. These processes includes those that shorten, lengthen, replicate and repair the telomeric DNA sequences. |
IGI|IMP |
BP |
GO:0000724 |
double-strand break repair via homologous recombination |
The error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. A strand in the broken DNA searches for a homologous region in an intact chromosome to serve as the template for DNA synthesis. The restoration of two intact DNA molecules results in the exchange, reciprocal or nonreciprocal, of genetic material between the intact DNA molecule and the broken DNA molecule. |
IMP |
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. |
IGI|IMP |
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:0006289 |
nucleotide-excision repair |
A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts). |
IDA|IMP |
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: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. |
IMP|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. |
IMP|TAS |
BP |
GO:0009411 |
response to UV |
Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
IMP |
BP |
GO:0009650 |
UV protection |
Any process in which an organism or cell protects itself from ultraviolet radiation (UV), which may also result in resistance to repeated exposure to UV. |
IEA |
BP |
GO:0032205 |
negative regulation of telomere maintenance |
Any process that stops, prevents, or reduces the frequency, rate or extent of a process that affects and monitors the activity of telomeric proteins and the length of telomeric DNA. |
IMP |
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. |
IDA|TAS |
BP |
GO:0034644 |
cellular response to UV |
Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
IGI |
BP |
GO:0036297 |
interstrand cross-link repair |
Removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication. |
TAS |
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 |
BP |
GO:1901255 |
nucleotide-excision repair involved in interstrand cross-link repair |
Any nucleotide-excision repair that is involved in interstrand cross-link repair. |
IBA |
CC |
GO:0000109 |
nucleotide-excision repair complex |
Any complex formed of proteins that act in nucleotide-excision repair. |
IDA |
CC |
GO:0000110 |
nucleotide-excision repair factor 1 complex |
One of several protein complexes involved in nucleotide-excision repair; possesses DNA damage recognition and endodeoxynuclease activities. In S. cerevisiae, it is composed of Rad1p, Rad10p, and Rad14p; in human the subunits are ERCC4/XPF, ERCC1 and XPA, respectively. |
IDA |
CC |
GO:0000781 |
chromosome, telomeric region |
The terminal region of a linear chromosome that includes the telomeric DNA repeats and associated proteins. |
IDA |
CC |
GO:0000784 |
nuclear chromosome, telomeric region |
The terminal region of a linear nuclear chromosome that includes the telomeric DNA repeats and associated proteins. |
IDA |
CC |
GO:0005634 |
nucleus |
A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
IDA |
CC |
GO:0005654 |
nucleoplasm |
That part of the nuclear content other than the chromosomes or the nucleolus. |
TAS |
CC |
GO:0005669 |
transcription factor TFIID complex |
A complex composed of TATA binding protein (TBP) and TBP associated factors (TAFs); the total mass is typically about 800 kDa. Most of the TAFs are conserved across species. In TATA-containing promoters for RNA polymerase II (Pol II), TFIID is believed to recognize at least two distinct elements, the TATA element and a downstream promoter element. TFIID is also involved in recognition of TATA-less Pol II promoters. Binding of TFIID to DNA is necessary but not sufficient for transcription initiation from most RNA polymerase II promoters. |
IEA |
CC |
GO:0070522 |
ERCC4-ERCC1 complex |
A heterodimeric nucleotide-excision repair complex that has endonuclease activity specific for bubble structures characteristic of certain DNA lesions. The subunits are known as XPF/ERCC4 and ERCC1 in mammals, and Rad1p and Rad10p in S. cerevisiae. |
IDA |
MF |
GO:0000014 |
single-stranded DNA endodeoxyribonuclease activity |
Catalysis of the hydrolysis of ester linkages within a single-stranded deoxyribonucleic acid molecule by creating internal breaks. |
IBA |
MF |
GO:0001094 |
TFIID-class transcription factor binding |
Interacting selectively and non-covalently with a basal RNA polymerase II transcription factor of the TFIID class, one of the factors involved in formation of the preinitiation complex (PIC) by RNA polymerase II and defined as a basal or general transcription factor. |
IEA |
MF |
GO:0003684 |
damaged DNA binding |
Interacting selectively and non-covalently with damaged DNA. |
IMP |
MF |
GO:0003697 |
single-stranded DNA binding |
Interacting selectively and non-covalently with single-stranded DNA. |
IDA |
MF |
GO:0004520 |
endodeoxyribonuclease activity |
Catalysis of the hydrolysis of ester linkages within deoxyribonucleic acid by creating internal breaks. |
IDA|IMP |
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:0008022 |
protein C-terminus binding |
Interacting selectively and non-covalently with a protein C-terminus, the end of any peptide chain at which the 1-carboxy function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
IPI |
MF |
GO:0043566 |
structure-specific DNA binding |
Interacting selectively and non-covalently with DNA of a specific structure or configuration e.g. triplex DNA binding or bent DNA binding. |
IDA |
MF |
GO:0047485 |
protein N-terminus binding |
Interacting selectively and non-covalently with a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
IPI |
Domain ID | Description |
---|---|
IPR006166 |
ERCC4 domain |
IPR006167 |
DNA repair protein XPF |
IPR010994 |
RuvA domain 2-like |
IPR011335 |
Restriction endonuclease type II-like |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa03420 |
Nucleotide excision repair |
KEGG |
hsa03460 |
Fanconi anemia pathway |
KEGG |
UMLS CUI | UMLS Term |
---|---|
C0005695 |
Bladder Neoplasm |
C0015625 |
Fanconi Anemia |
C0027627 |
Neoplasm Metastasis |
C0027658 |
Neoplasms, Germ Cell And Embryonal |
C0031117 |
Peripheral Neuropathy |
C0039590 |
Testicular Neoplasms |
C0311375 |
Arsenic Poisoning |
C0751039 |
Cockayne Syndrome, Type I |
C1449861 |
Micronuclei, Chromosome-Defective |
Tissue | Cell Type |
---|---|
bronchus |
respiratory epithelial cells |
cerebellum |
Purkinje cells |
cerebral cortex |
neuropil |
epididymis |
glandular cells |
gallbladder |
glandular cells |
placenta |
decidual cells |
placenta |
trophoblastic cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
XPC |
7508 |
Q01831 |
0.59 |
MSH2 |
4436 |
P43246 |
0.63 |
FANCA |
2175 |
O15360 |
0.72 |
ERCC1 |
2067 |
P07992 |
0.99 |
UBE2B |
7320 |
P63146 |
0.49 |
VPS26A |
9559 |
O75436 |
0.49 |
ALYREF |
10189 |
Q86V81 |
0.49 |
LYAR |
55646 |
Q9NX58 |
0.49 |
RAD52 |
5893 |
P43351 |
0.55 |
DDB1 |
100290337 |
Q16531 |
0.55 |
EGFR |
1956 |
P00533 |
0.63 |
ERCC6 |
2074 |
Q03468 |
0.63 |
FANCG |
2189 |
O15287 |
0.63 |
GSK3B |
2932 |
P49841 |
0.63 |
NEDD8 |
4738 |
Q15843 |
0.63 |
NTRK1 |
4914 |
P04629 |
0.63 |
POLR2A |
5430 |
P24928 |
0.63 |
TADA2A |
6871 |
O75478 |
0.63 |
UHRF1 |
29128 |
Q96T88 |
0.63 |
C10orf55 |
414236 |
Q5SWW7 |
0.63 |
GTF2H1 |
2965 |
P32780 |
0.65 |
XPA |
7507 |
P23025 |
0.70 |
SPTA1 |
6708 |
P02549 |
0.72 |
SLX4IP |
128710 |
Q5VYV7 |
0.76 |
PLK1 |
5347 |
P53350 |
0.78 |
SUMO2 |
6613 |
P61956 |
0.79 |
SPTAN1 |
6709 |
Q13813 |
0.83 |
SLX1A |
548593 |
Q9BQ83 |
0.88 |
SLX4 |
84464 |
Q8IY92 |
0.90 |