Gene Symbol | XPA |
Entrez ID | 7507 |
Uniprot ID | P23025 |
Description | xeroderma pigmentosum, complementation group A |
Chromosomal Location | chr9: 97,674,909-97,697,357 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0000715 |
nucleotide-excision repair, DNA damage recognition |
The identification of lesions in DNA, such as pyrimidine-dimers, intrastrand cross-links, and bulky adducts. The wide range of substrate specificity suggests the repair complex recognizes distortions in the DNA helix. |
IBA |
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: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:0006284 |
base-excision repair |
In base excision repair, an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. |
IBA |
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:0006979 |
response to oxidative stress |
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 oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
IEA |
BP |
GO:0008630 |
intrinsic apoptotic signaling pathway in response to DNA damage |
A series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the detection of DNA damage, and ends when the execution phase of apoptosis is triggered. |
IEA |
BP |
GO:0009636 |
response to toxic substance |
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 a toxic stimulus. |
IEA |
BP |
GO:0010996 |
response to auditory stimulus |
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 auditory stimulus. |
IEA |
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. |
IMP|TAS |
BP |
GO:0035264 |
multicellular organism growth |
The increase in size or mass of an entire multicellular organism, as opposed to cell growth. |
IEA |
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:0070914 |
UV-damage excision repair |
A DNA repair process that is initiated by an endonuclease that introduces a single-strand incision immediately 5' of a UV-induced damage site. UV-damage excision repair acts on both cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone 6-4 photoproducts (6-4PPs). |
IBA |
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: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. |
IBA |
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. |
IDA|TAS |
CC |
GO:0005662 |
DNA replication factor A complex |
A conserved heterotrimeric complex that binds nonspecifically to single-stranded DNA and is required for multiple processes in eukaryotic DNA metabolism, including DNA replication, DNA repair, and recombination. In all eukaryotic organisms examined the complex is composed of subunits of approximately 70, 30, and 14 kDa. |
IDA |
CC |
GO:0005737 |
cytoplasm |
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
IDA |
CC |
GO:0005794 |
Golgi apparatus |
A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions. |
IDA |
CC |
GO:0045171 |
intercellular bridge |
A direct connection between the cytoplasm of two cells that is formed following the completion of cleavage furrow ingression during cell division. They are usually present only briefly prior to completion of cytokinesis. However, in some cases, such as the bridges between germ cells during their development, they become stabilised. |
IDA |
MF |
GO:0003684 |
damaged DNA binding |
Interacting selectively and non-covalently with damaged DNA. |
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:0019904 |
protein domain specific binding |
Interacting selectively and non-covalently with a specific domain of a protein. |
IPI |
MF |
GO:0042803 |
protein homodimerization activity |
Interacting selectively and non-covalently with an identical protein to form a homodimer. |
IPI |
MF |
GO:0046872 |
metal ion binding |
Interacting selectively and non-covalently with any metal ion. |
IEA |
Domain ID | Description |
---|---|
IPR000465 |
XPA |
IPR009061 |
Putative DNA-binding domain |
IPR022652 |
Zinc finger, XPA-type, conserved site |
IPR022656 |
XPA C- terminal |
IPR022658 |
XPA, conserved site |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa01524 |
Platinum drug resistance |
KEGG |
hsa03420 |
Nucleotide excision repair |
KEGG |
UMLS CUI | UMLS Term |
---|---|
C0007117 |
Basal Cell Carcinoma |
C0021841 |
Intestinal Neoplasms |
C0037286 |
Skin Neoplasms |
C0043346 |
Xeroderma Pigmentosum |
C1449861 |
Micronuclei, Chromosome-Defective |
Tissue | Cell Type |
---|---|
adrenal gland |
glandular cells |
appendix |
glandular cells |
appendix |
lymphoid tissue |
bronchus |
respiratory epithelial cells |
cerebral cortex |
neuropil |
cervix, uterine |
glandular cells |
colon |
glandular cells |
endometrium |
glandular cells |
epididymis |
glandular cells |
esophagus |
squamous epithelial cells |
fallopian tube |
glandular cells |
gallbladder |
glandular cells |
lymph node |
non-germinal center cells |
oral mucosa |
squamous epithelial cells |
pancreas |
exocrine glandular cells |
pancreas |
islets of Langerhans |
parathyroid gland |
glandular cells |
placenta |
decidual cells |
placenta |
trophoblastic cells |
prostate |
glandular cells |
skin |
keratinocytes |
skin |
epidermal cells |
smooth muscle |
smooth muscle cells |
spleen |
cells in red pulp |
spleen |
cells in white pulp |
stomach |
glandular cells |
thyroid gland |
glandular cells |
tonsil |
non-germinal center cells |
urinary bladder |
urothelial cells |
vagina |
squamous epithelial 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 |
---|---|---|---|
BMPR1A |
657 |
P36894 |
0.49 |
MUTYH |
4595 |
Q9UIF7 |
0.49 |
NRAS |
4893 |
P01111 |
0.49 |
SRC |
6714 |
P12931 |
0.49 |
AURKA |
6790 |
O14965 |
0.49 |
STK11 |
6794 |
Q15831 |
0.49 |
DDB1 |
100290337 |
Q16531 |
0.56 |
HMGB1 |
3146 |
P09429 |
0.63 |
FOSL1 |
8061 |
P15407 |
0.63 |
ZNF518A |
9849 |
Q6AHZ1 |
0.63 |
NDEL1 |
81565 |
Q9GZM8 |
0.63 |
NUP43 |
348995 |
Q8NFH3 |
0.63 |
HERC2 |
8924 |
O95714 |
0.65 |
ERCC4 |
2072 |
Q92889 |
0.70 |
GTF2E2 |
2961 |
P29084 |
0.75 |
GTF2H1 |
2965 |
P32780 |
0.75 |
ERCC6 |
2074 |
Q03468 |
0.87 |
RPA1 |
6117 |
P27694 |
0.90 |
RPA2 |
6118 |
P15927 |
0.90 |
ERCC1 |
2067 |
P07992 |
0.97 |
BUB1 |
699 |
O43683 |
0.49 |
SMAD2 |
4087 |
Q15796 |
0.49 |
MLH1 |
4292 |
P40692 |
0.49 |
PDGFRL |
5157 |
Q15198 |
0.49 |
PMS2 |
5395 |
P54278 |
0.49 |
RB1 |
5925 |
P06400 |
0.49 |
DLC1 |
10395 |
Q96QB1 |
0.49 |
MLH3 |
27030 |
Q9UHC1 |
0.49 |
FBXW7 |
55294 |
Q969H0 |
0.49 |
ATM |
472 |
Q13315 |
0.55 |
PRKDC |
5591 |
P78527 |
0.55 |
MSH2 |
4436 |
P43246 |
0.56 |
MSH3 |
4437 |
P20585 |
0.56 |
POLR2A |
5430 |
P24928 |
0.63 |
TRIM27 |
5987 |
P14373 |
0.63 |
XPO1 |
7514 |
O14980 |
0.63 |
CD3EAP |
10849 |
O15446 |
0.63 |
RASSF1 |
11186 |
Q9NS23 |
0.63 |
GPN1 |
11321 |
Q9HCN4 |
0.63 |
XPC |
7508 |
Q01831 |
0.70 |
DDB2 |
1643 |
Q92466 |
0.71 |
EP300 |
2033 |
Q09472 |
0.72 |
SIRT1 |
23411 |
Q96EB6 |
0.77 |
RPA4 |
29935 |
Q13156 |
0.78 |
XAB2 |
56949 |
Q9HCS7 |
0.78 |
ATR |
545 |
Q13535 |
0.79 |