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Aliases for XPA Gene

Aliases for XPA Gene

  • Xeroderma Pigmentosum, Complementation Group A 2 3 5
  • Xeroderma Pigmentosum Group A-Complementing Protein 3 4
  • XPAC 3 4
  • Mutant Xeroderma Pigmentosum Complementation Group A 3
  • Excision Repair-Controlling 3
  • XP1 3

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 involved in DNA excision repair. The encoded protein is part of the NER (nucleotide excision repair) complext which is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens. Mutations in this gene are associated with xeroderma pigmentosum complementation group A. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

GeneCards Summary for XPA Gene

XPA (Xeroderma Pigmentosum, Complementation Group A) is a Protein Coding gene. Diseases associated with XPA include xeroderma pigmentosum, group a and xpa-related xeroderma pigmentosum. Among its related pathways are Nucleotide excision repair and Platinum Pathway, Pharmacokinetics/Pharmacodynamics. GO annotations related to this gene include protein homodimerization activity and damaged DNA binding.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XPA Gene

Genomics for XPA Gene

Regulatory Elements for XPA Gene

Enhancers for XPA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around XPA on UCSC Golden Path with GeneCards custom track

Promoters for XPA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around XPA on UCSC Golden Path with GeneCards custom track

Genomic Location for XPA Gene

Chromosome:
9
Start:
97,654,398 bp from pter
End:
97,697,409 bp from pter
Size:
43,012 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

Proteomics data for XPA Gene at MOPED

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

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for XPA (XPA)

No data available for DME Specific Peptides for XPA Gene

Domains & Families for XPA Gene

Gene Families for XPA Gene

Protein Domains for XPA Gene

Suggested Antigen Peptide Sequences for XPA Gene

GenScript: Design optimal peptide antigens:

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

GENATLAS Biochemistry:
complementing repair defect in UV irradiated xeroderma pigmentation group A cells,yeast RAD14 homolog
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.

Gene Ontology (GO) - Molecular Function for XPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
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:

Animal Model Products

miRNA for XPA Gene

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
Jensen Localization Image for XPA Gene COMPARTMENTS Subcellular localization image for XPA gene
Compartment Confidence
golgi apparatus 5
nucleus 5
extracellular 4
cytosol 3

Gene Ontology (GO) - Cellular Components for XPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005662 colocalizes_with DNA replication factor A complex IDA 7700386
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 KEGG pathway for XPA Gene
1 GeneGo (Thomson Reuters) pathway for XPA Gene

SIGNOR curated interactions for XPA Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for XPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA,TAS 1601884
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006284 base-excision repair IBA --
GO:0006293 nucleotide-excision repair, preincision complex stabilization TAS --
GO:0006294 nucleotide-excision repair, preincision complex assembly TAS --
genes like me logo Genes that share ontologies with XPA: view

Drugs & Compounds for XPA Gene

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

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

(8) 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

Unigene Clusters for XPA Gene

Xeroderma pigmentosum, complementation group A:
Representative Sequences:

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

No ASD Table

Relevant External Links for XPA Gene

GeneLoc Exon Structure for
XPA
ECgene alternative splicing isoforms for
XPA

Expression for XPA Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for XPA Gene



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.
genes like me logo Genes that share expression patterns with XPA: view

Protein tissue co-expression partners for XPA Gene

- Elite partner

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia XPA 35
  • 90.35 (n)
  • 91.58 (a)
XPA 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia XPA 35
  • 90.6 (n)
  • 93.41 (a)
XPA 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Xpa 35
  • 82.95 (n)
  • 85.5 (a)
Xpa 16
Xpa 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia XPA 35
  • 99.63 (n)
  • 99.63 (a)
XPA 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Xpa 35
  • 82.51 (n)
  • 86.14 (a)
oppossum
(Monodelphis domestica)
Mammalia XPA 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia XPA 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves XPA 35
  • 69.95 (n)
  • 68.56 (a)
XPA 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XPA 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11835 35
xpa 35
  • 69.7 (n)
  • 71.59 (a)
African clawed frog
(Xenopus laevis)
Amphibia XPAC 35
zebrafish
(Danio rerio)
Actinopterygii xpa 35
  • 65.66 (n)
  • 65.95 (a)
zgc63640 35
xpa 36
  • 29 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Xpac 37
  • 42 (a)
Xpac 35
  • 50.55 (n)
  • 45.79 (a)
Xpac 36
  • 37 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007566 35
  • 52.34 (n)
  • 51.41 (a)
worm
(Caenorhabditis elegans)
Secernentea xpa-1 35
  • 54.44 (n)
  • 47.34 (a)
xpa-1 36
  • 36 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD14 36
  • 19 (a)
OneToOne
RAD14 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToOne
Species with no ortholog for XPA:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for XPA Gene

No data available for Paralogs for XPA Gene

Variants for XPA Gene

Sequence variations from dbSNP and Humsavar for XPA Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
VAR_007727 Xeroderma pigmentosum complementation group A (XP-A)
VAR_007728 Xeroderma pigmentosum complementation group A (XP-A)
VAR_007729 Xeroderma pigmentosum complementation group A (XP-A)
VAR_007730 Xeroderma pigmentosum complementation group A (XP-A)
VAR_007731 Xeroderma pigmentosum complementation group A (XP-A)

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

Variant ID Type Subtype PubMed ID
nsv893610 CNV Gain 21882294

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)

Relevant External Links for XPA Gene

HapMap Linkage Disequilibrium report
XPA
Human Gene Mutation Database (HGMD)
XPA

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

Disorders for XPA Gene

MalaCards: The human disease database

(14) MalaCards diseases for XPA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
xeroderma pigmentosum, group a
  • xeroderma pigmentosum, type 1
xpa-related xeroderma pigmentosum
xeroderma pigmentosum, variant type
  • de sanctis-cacchione syndrome
cockayne syndrome
  • cockayne's syndrome
trichothiodystrophy 1, photosensitive
  • amish brittle hair brain syndrome
- 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:1339397, ECO:0000269 PubMed:1372103, 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

Relevant External Links for XPA

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

Publications for XPA Gene

  1. Phosphorylation of nucleotide excision repair factor xeroderma pigmentosum group A by ataxia telangiectasia mutated and Rad3-related- dependent checkpoint pathway promotes cell survival in response to UV irradiation. (PMID: 16540648) Wu X. … Zou Y. (Cancer Res. 2006) 3 4 23 67
  2. Pterygium and genetic polymorphisms of the DNA repair enzymes XRCC1, XPA, and XPD. (PMID: 20431719) Chiang C.C. … Tsai F.J. (Mol. Vis. 2010) 3 23
  3. Physical and functional interaction between DDB and XPA in nucleotide excision repair. (PMID: 19056823) Wakasugi M. … Matsunaga T. (Nucleic Acids Res. 2009) 3 23
  4. UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity. (PMID: 19197159) Pan Y.R. … Lee E.Y. (Cell Cycle 2009) 3 23
  5. Common variations in ERCC2 are associated with response to cisplatin chemotherapy and clinical outcome in osteosarcoma patients. (PMID: 19434073) Caronia D. … GonzA!lez-Neira A. (Pharmacogenomics J. 2009) 3 23

Products for XPA Gene

Sources for XPA Gene

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