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 NE... See more...

Aliases for XPA Gene

Aliases for XPA Gene

  • XPA, DNA Damage Recognition And Repair Factor 2 3 5
  • XPAC 2 3 4
  • Xeroderma Pigmentosum Group A-Complementing Protein 3 4
  • Xeroderma Pigmentosum, Complementation Group A 2 3
  • DNA Repair Protein Complementing XP-A Cells 3 4
  • XP1 2 3
  • XPA 5

External Ids for XPA Gene

Previous GeneCards Identifiers for XPA Gene

  • GC09M091262
  • GC09M092180
  • GC09M093874
  • GC09M095817
  • GC09M097516
  • GC09M099477
  • GC09M100437
  • GC09M070038

Summaries for XPA Gene

Entrez Gene Summary for XPA Gene

  • 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]

GeneCards Summary for XPA Gene

XPA (XPA, DNA Damage Recognition And Repair Factor) is a Protein Coding gene. Diseases associated with XPA include Xeroderma Pigmentosum, Complementation Group A and Xeroderma Pigmentosum, Variant Type. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Platinum Pathway, Pharmacokinetics/Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and damaged DNA binding.

UniProtKB/Swiss-Prot Summary for XPA Gene

  • 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.

Gene Wiki entry for XPA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for XPA Gene

Genomics for XPA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for XPA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around XPA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for XPA

Top Transcription factor binding sites by QIAGEN in the XPA gene promoter:
  • c-Myc
  • FOXD1
  • GR
  • GR-alpha
  • ITF-2
  • Lmo2
  • Max1
  • Tal-1beta
  • USF-1
  • USF1

Genomic Locations for XPA Gene

Genomic Locations for XPA Gene
chr9:97,654,398-97,697,409
(GRCh38/hg38)
Size:
43,012 bases
Orientation:
Minus strand
chr9:100,437,191-100,459,691
(GRCh37/hg19)
Size:
22,501 bases
Orientation:
Minus strand

Genomic View for XPA Gene

Genes around XPA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XPA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XPA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XPA Gene

Proteins for XPA Gene

  • Protein details for XPA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23025-XPA_HUMAN
    Recommended name:
    DNA repair protein complementing XP-A cells
    Protein Accession:
    P23025
    Secondary Accessions:
    • Q5T1U9
    • Q6LCW7
    • Q6LD02

    Protein attributes for XPA Gene

    Size:
    273 amino acids
    Molecular mass:
    31368 Da
    Quaternary structure:
    • Interacts with GPN1. Interacts with RPA1 and RPA2; the interaction is direct and associates XPA with the RPA complex. Interacts (via N-terminus) with CEP164 upon UV irradiation. Interacts with HERC2.

    Three dimensional structures from OCA and Proteopedia for XPA Gene

neXtProt entry for XPA Gene

Post-translational modifications for XPA Gene

  • ATR-dependent phosphorylation of XPA at Ser-196 is important for cell survival in response to UV damage.
  • Ubiquitinated by HERC2 leading to degradation by the proteasome.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for XPA Gene

No data available for DME Specific Peptides for XPA Gene

Domains & Families for XPA Gene

Gene Families for XPA Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for XPA Gene

InterPro:
Blocks:
  • XPA protein
ProtoNet:

Suggested Antigen Peptide Sequences for XPA Gene

GenScript: Design optimal peptide antigens:
  • Xeroderma pigmentosum group A-complementing protein (XPA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P23025

UniProtKB/Swiss-Prot:

XPA_HUMAN :
  • Belongs to the XPA family.
Family:
  • Belongs to the XPA family.
genes like me logo Genes that share domains with XPA: view

Function for XPA Gene

Molecular function for XPA Gene

UniProtKB/Swiss-Prot Function:
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.
GENATLAS Biochemistry:
complementing repair defect in UV irradiated xeroderma pigmentation group A cells,yeast RAD14 homolog

Phenotypes From GWAS Catalog for XPA Gene

Gene Ontology (GO) - Molecular Function for XPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003684 damaged DNA binding IBA,IDA 7700386
GO:0005515 protein binding IPI 7700386
GO:0019904 protein domain specific binding IPI 17720715
GO:0042803 protein homodimerization activity IPI 8197175
genes like me logo Genes that share ontologies with XPA: view
genes like me logo Genes that share phenotypes with XPA: view

Human Phenotype Ontology for XPA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for XPA Gene

MGI Knock Outs for XPA:
  • Xpa Xpa<tm1Hvs>
  • Xpa Xpa<tm1Tnka>

Animal Model Products

CRISPR Products

miRNA for XPA Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XPA

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for XPA Gene

Localization for XPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for XPA Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for XPA gene
Compartment Confidence
nucleus 5
extracellular 4
cytosol 3
cytoskeleton 2
mitochondrion 2
golgi apparatus 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for XPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000110 nucleotide-excision repair factor 1 complex IBA 21873635
GO:0005634 nucleus IDA 1601884
GO:0005654 nucleoplasm TAS --
GO:0005662 colocalizes_with DNA replication factor A complex IDA 7700386
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with XPA: view

Pathways & Interactions for XPA Gene

genes like me logo Genes that share pathways with XPA: view

Pathways by source for XPA Gene

1 GeneGo (Thomson Reuters) pathway for XPA Gene
  • Transcription_P53 signaling pathway
2 Qiagen pathways for XPA Gene
  • DNA Repair Mechanisms
  • Nucleotide Excision Repair Pathway
1 Cell Signaling Technology pathway for XPA Gene

SIGNOR curated interactions for XPA Gene

Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for XPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000715 nucleotide-excision repair, DNA damage recognition IBA 21873635
GO:0000717 nucleotide-excision repair, DNA duplex unwinding TAS --
GO:0006281 DNA repair IMP 1601884
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006284 base-excision repair IBA 21873635
genes like me logo Genes that share ontologies with XPA: view

Drugs & Compounds for XPA Gene

(10) Drugs for XPA Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Platinum compounds Pharma 0

(7) Additional Compounds for XPA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with XPA: view

Transcripts for XPA Gene

mRNA/cDNA for XPA Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XPA

Alternative Splicing Database (ASD) splice patterns (SP) for XPA Gene

No ASD Table

Relevant External Links for XPA Gene

GeneLoc Exon Structure for
XPA

Expression for XPA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for XPA Gene

Protein differential expression in normal tissues from HIPED for XPA Gene

This gene is overexpressed in CD8 Tcells (21.2), Platelet (9.1), Blymphocyte (7.2), and Peripheral blood mononuclear cells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for XPA Gene



Protein tissue co-expression partners for XPA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for XPA

SOURCE GeneReport for Unigene cluster for XPA Gene:

Hs.654364

mRNA Expression by UniProt/SwissProt for XPA Gene:

P23025-XPA_HUMAN
Tissue specificity: Expressed in various cell lines and in skin fibroblasts.

Evidence on tissue expression from TISSUES for XPA Gene

  • Skin(2.9)
  • Nervous system(2.8)
  • Kidney(2.8)
  • Liver(2.8)
  • Intestine(2.7)
  • Lung(2.6)
  • Blood(2.5)
  • Spleen(2.3)
  • Heart(2.3)
  • Muscle(2.3)
  • Pancreas(2.2)
  • Lymph node(2.2)
  • Stomach(2.1)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for XPA Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • head
  • skull
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with XPA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for XPA Gene

Orthologs for XPA Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for XPA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia XPA 30 31
  • 99.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia XPA 30 31
  • 90.6 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia XPA 30 31
  • 90.35 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Xpa 30 17 31
  • 82.95 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Xpa 30
  • 82.51 (n)
Oppossum
(Monodelphis domestica)
Mammalia XPA 31
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia XPA 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves XPA 30 31
  • 69.95 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia XPA 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia xpa 30
  • 69.7 (n)
Str.11835 30
African clawed frog
(Xenopus laevis)
Amphibia XPAC 30
Zebrafish
(Danio rerio)
Actinopterygii xpa 30 31
  • 65.66 (n)
OneToOne
zgc63640 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007566 30
  • 52.34 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Xpac 30 31 32
  • 50.55 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea xpa-1 30 31
  • 54.44 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD14 31 33
  • 19 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToOne
Species where no ortholog for XPA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for XPA Gene

ENSEMBL:
Gene Tree for XPA (if available)
TreeFam:
Gene Tree for XPA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for XPA: view image

Paralogs for XPA Gene

No data available for Paralogs for XPA Gene

Variants for XPA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for XPA Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
267185 Pathogenic: Xeroderma pigmentosum group A 97,687,098(-) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
267186 Pathogenic: Xeroderma pigmentosum group A 97,689,548(-) AG/A FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
646282 Pathogenic: not provided 97,684,928(-) AC/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
724230 Likely Benign: not provided 97,693,719(-) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
729280 Benign/Likely Benign: Xeroderma pigmentosum group A; not provided 97,689,634(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for XPA Gene

Structural Variations from Database of Genomic Variants (DGV) for XPA Gene

Variant ID Type Subtype PubMed ID
nsv1043753 CNV gain 25217958

Variation tolerance for XPA Gene

Residual Variation Intolerance Score: 81.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.54; 44.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for XPA Gene

Human Gene Mutation Database (HGMD)
XPA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
XPA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XPA Gene

Disorders for XPA Gene

MalaCards: The human disease database

(34) MalaCards diseases for XPA Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search XPA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

XPA_HUMAN
  • Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-A patients show the most severe skin symptoms and progressive neurological disorders. {ECO:0000269 PubMed:10447254, ECO:0000269 PubMed:1339397, ECO:0000269 PubMed:1372103, ECO:0000269 PubMed:8504220, ECO:0000269 PubMed:9671271}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for XPA Gene

xeroderma pigmentosum,complementation group A

Additional Disease Information for XPA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with XPA: view

Publications for XPA Gene

  1. Pterygium and genetic polymorphisms of the DNA repair enzymes XRCC1, XPA, and XPD. (PMID: 20431719) Chiang CC … Tsai FJ (Molecular vision 2010) 3 23 41
  2. Modulation of nucleotide excision repair in human lymphocytes by genetic and dietary factors. (PMID: 19878615) Langie SA … van Schooten FJ (The British journal of nutrition 2010) 3 23 41
  3. UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity. (PMID: 19197159) Pan YR … Lee EY (Cell cycle (Georgetown, Tex.) 2009) 3 4 23
  4. A field synopsis on low-penetrance variants in DNA repair genes and cancer susceptibility. (PMID: 19116388) Vineis P … Matullo G (Journal of the National Cancer Institute 2009) 3 23 41
  5. Common variations in ERCC2 are associated with response to cisplatin chemotherapy and clinical outcome in osteosarcoma patients. (PMID: 19434073) Caronia D … González-Neira A (The pharmacogenomics journal 2009) 3 23 41

Products for XPA Gene

Sources for XPA Gene