Protein Description

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

No databases found.

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