Tchem XPA DNA repair protein complementing XP-A cells

Protein Summary

Description

Involved in DNA excision repair. Initiates repair by binding to damaged sites with various affinities, depending on the photoproduct and the transcriptional state of the region. Required for UV-induced CHEK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation. This gene encodes a zinc finger protein plays a central role in nucleotide excision repair (NER), a specialized type of DNA repair. NER is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens and chemotherapeutic drugs. The encoded protein interacts with DNA and several NER proteins, acting as a scaffold to assemble the NER incision complex at sites of DNA damage. Mutations in this gene cause Xeroderma pigmentosum complementation group A (XP-A), an autosomal recessive skin disorder featuring hypersensitivity to sunlight and increased risk for skin cancer. [provided by RefSeq, Aug 2017]

Uniprot Accession IDs

• P23025
• Q5T1U9
• Q6LCW7
• Q6LD02

Gene Name

• XPA

Ensembl ID

• ENST00000375128
• ENSP00000364270
• ENSG00000136936

Symbol

• XPAC
• XP1
• XPAC

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	0.73
disease	0.72
transcription factor perturbation	0.68
tissue sample	0.67
histone modification site profile	0.66

Protein Classes

PANTHER Classes

Protein / Nucleic Acid Binding / Dna Binding Protein / Damaged Dna-binding Protein / Dna Repair Protein Complementing Xp-a Cells

DTO Classes

Protein / Nucleic Acid Binding / Dna Binding Protein / Damaged Dna-binding Protein / Dna Repair Protein Complementing Xp-a Cells

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 711.13   (req: < 5)

Gene RIFs: 122   (req: <= 3)

Antibodies: 454   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 711.13   (req: >= 5)

Gene RIFs: 122   (req: > 3)

Antibodies: 454   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 23

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 1

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Expression Data (0 Tissues)

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No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Related Tools (4)

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (1)

Explore Active Ligands

1 – 1 of 1

CHEMBL4065804

XPATchem

pIC50 : 6.09

Protein-Protein Interactions (222)

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1 – 10 of 222

• See Interactions on String-DB

ERCC1

Tbio

Novelty:  0.00079472

p_int:  0.999986073

p_ni:  0.000012422

p_wrong:  0.000001504

Score:  0.999

Data Source:  BioPlex,STRINGDB

ERCC4

Tbio

Family:  Enzyme

Novelty:  0.01076913

p_int:  0.999976589

p_ni:  0.000023411

Score:  0.998

Data Source:  BioPlex,STRINGDB

NUP43

Tbio

Novelty:  0.11571309

p_int:  0.998303008

p_ni:  0.001696992

Score:  0.188

Data Source:  BioPlex,STRINGDB

ZNF518A

Tdark

Novelty:  1.30119746

p_int:  0.988136228

p_ni:  0.007640973

p_wrong:  0.004222798

Score:  0.513

Data Source:  BioPlex,STRINGDB

RAD23B

Tbio

Novelty:  0.00672104

Score:  0.994

Data Source:  Reactome,STRINGDB

ERCC5

Tchem

Family:  Enzyme

Novelty:  0.00819696

Score:  0.991

Data Source:  STRINGDB

ERCC2

Tchem

Family:  Enzyme

Novelty:  0.00240155

Score:  0.991

Data Source:  STRINGDB

XPC

Tbio

Novelty:  0.00775175

Score:  0.991

Data Source:  Reactome,STRINGDB

RPA2

Tbio

Novelty:  0.00879115

Score:  0.99

Data Source:  STRINGDB

DDB1

Tbio

Novelty:  0.00345896

Score:  0.989

Data Source:  Reactome,STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (11)

Reactome (8)

KEGG (2)

WikiPathways (1)

DNA Repair (R-HSA-73894)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	DNA Repair	306 targets	R-HSA-73894
Reactome	Dual Incision in GG-NER	41 targets	R-HSA-5696400
Reactome	Dual incision in TC-NER	65 targets	R-HSA-6782135
Reactome	Formation of Incision Complex in GG-NER	43 targets	R-HSA-5696395
Reactome	Formation of TC-NER Pre-Incision Complex	53 targets	R-HSA-6781823

Name	Explore in Pharos	Explore in Source
DNA Repair	306 targets	R-HSA-73894
Dual Incision in GG-NER	41 targets	R-HSA-5696400
Dual incision in TC-NER	65 targets	R-HSA-6782135
Formation of Incision Complex in GG-NER	43 targets	R-HSA-5696395
Formation of TC-NER Pre-Incision Complex	53 targets	R-HSA-6781823

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (28)

Functions (4)

Components (5)

Processes (19)

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1 – 4 of 4

GO Term	Evidence	Assigned by
damaged DNA binding	Inferred from Direct Assay (IDA)	UniProtKB
protein domain specific binding	Inferred from Physical Interaction (IPI)	UniProtKB
protein homodimerization activity	Inferred from Physical Interaction (IPI)	UniProtKB
metal ion binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

Disease Associations (null)

No disease associations found

GWAS Traits (63)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
hypothyroidism	EFO_0004705	4	4	1	1.3	98.1
thyroid carcinoma	EFO_0002892	6	3	0	1.7	96.4
thyroid stimulating hormone measurement	EFO_0004748	4	4	4		89.8
autoimmune thyroid disease	EFO_0006812	1	1	0	1.3	87.4
Thyroid preparation use measurement	EFO_0009933	1	1	1		86.9

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
hypothyroidism	EFO_0004705	1	1.3	98.1
thyroid carcinoma	EFO_0002892	0	1.7	96.4
thyroid stimulating hormone measurement	EFO_0004748	4		89.8
autoimmune thyroid disease	EFO_0006812	0	1.3	87.4
Thyroid preparation use measurement	EFO_0009933	1		86.9

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Acetylation
Complete proteome
Disease mutation
DNA damage
DNA repair
DNA-binding
Isopeptide bond
Metal-binding
Nucleus

GWAS Trait Find Similar Targets

No Header	No Header
adiponectin measurement
amino acid measurement
antioxidant measurement
arm span
aspartate aminotransferase measurement
autoimmune thyroid disease
birth weight
blood urea nitrogen measurement
body composition measurement
body height

MGI Phenotype Find Similar Targets

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cellular phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
hematopoietic system phenotype
homeostasis/metabolism phenotype
immune system phenotype
integument phenotype
liver/biliary system phenotype
mortality/aging
neoplasm

IDG Resources

No IDG generated resources found

Orthologs (15)

1 – 5 of 15

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	XPA, DNA damage recognition and repair factor	VGNC:10482	747191
Macaque	XPA, DNA damage recognition and repair factor		715705
Mouse	xeroderma pigmentosum, complementation group A	MGI:99135	22590
Rat	XPA, DNA damage recognition and repair factor	RGD:1308769	298074
Dog	XPA, DNA damage recognition and repair factor	VGNC:48455	481623

Species	Name	OMA	EggNOG	Inparanoid
Chimp	XPA, DNA damage recognition and repair factor
Macaque	XPA, DNA damage recognition and repair factor
Mouse	xeroderma pigmentosum, complementation group A
Rat	XPA, DNA damage recognition and repair factor
Dog	XPA, DNA damage recognition and repair factor

Publication Statistics

PubMed Score 711.13

PubMed score by year

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PubTator Score 503.44

PubTator score by year

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Related Publications

Text Mined References (212)

GeneRif Annotations (122)

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PMID	Year	Title