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Aliases for XPA Gene

Aliases for XPA Gene

  • Xeroderma Pigmentosum, Complementation Group A 2 3
  • XPAC 3 4 6
  • Xeroderma Pigmentosum Group A-Complementing Protein 3 4
  • Mutant Xeroderma Pigmentosum Complementation Group A 3
  • DNA Repair Protein Complementing XP-A Cells 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 Chks in Checkpoint Regulation and DNA Repair. GO annotations related to this gene include protein homodimerization activity and protein domain specific 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for XPA Gene

Start:
97,634,451 bp from pter
End:
97,697,409 bp from pter
Size:
62,959 bases
Orientation:
Minus strand

Genomic View for XPA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

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

No data available for DME Specific Peptides for XPA Gene

Domains 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 :
  • P23025
Family:
  • Belongs to the XPA family.
genes like me logo Genes that share domains with XPA: view

No data available for Gene Families for XPA Gene

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:0003684 damaged DNA binding IDA 7700386
GO:0005515 protein binding IPI 10944529
GO:0019904 protein domain specific binding IPI 17720715
GO:0042803 protein homodimerization activity IPI 8197175
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

Animal Models for XPA Gene

MGI Knock Outs for XPA:

Animal Model Products

miRNA for XPA Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for XPA

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for XPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005662 colocalizes_with DNA replication factor A complex IDA 7700386
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with XPA: view

Pathways for XPA Gene

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

Pathways by source for XPA Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Cancer Drug Resistance in human,mouse,rat
    • DNA Damage Signaling Pathway in human,mouse,rat

Gene Ontology (GO) - Biological Process for XPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000718 nucleotide-excision repair, DNA damage removal TAS --
GO:0006281 DNA repair TAS --
GO:0006289 nucleotide-excision repair TAS --
GO:0006979 response to oxidative stress IEA --
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IEA --
genes like me logo Genes that share ontologies with XPA: view

Compounds for XPA Gene

(16) Novoseek inferred chemical compound relationships for XPA Gene

Compound -log(P) Hits PubMed IDs
cisplatin 59.1 30
cpds 57.8 2
oxaliplatin 46.5 5
benzo(a)pyrene 40.1 2
zinc 34.1 22
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for XPA

Primer Products

Flow Cytometry Products

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues 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 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 expressions with XPA: view

Expression partners for XPA Gene

In Situ Assay Products

No data available for 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 MAF
rs1130154 -- 97,674,424(+) TTaaa(A/G)aaaaa downstream-variant-500B, intron-variant
rs1800975 -- 97,697,296(-) GGGCC(A/G)GAGAT utr-variant-5-prime, nc-transcript-variant
rs1805160 untested, - 97,675,578(-) GCGGC(A/G)AGCAG missense, reference, nc-transcript-variant
rs1962546 -- 97,693,065(+) ttttt(A/T)taata intron-variant
rs1962592 -- 97,679,211(+) GTAAA(G/T)GGTGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv893610 CNV Gain 21882294

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

(1) OMIM Diseases for XPA Gene (611153)

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.

(21) Novoseek inferred disease relationships for XPA Gene

Disease -log(P) Hits PubMed IDs
xeroderma pigmentosum 96.4 102
trichothiodystrophy 76.4 1
xeroderma 75.2 3
cockayne syndrome 74.9 3
skin cancer 68.4 5

Genatlas disease for XPA Gene

xeroderma pigmentosum,complementation group A

Relevant External Links for XPA

GeneTests
XPA
GeneReviews
XPA
Genetic Association Database (GAD)
XPA
Human Genome Epidemiology (HuGE) Navigator
XPA
genes like me logo Genes that share disorders with XPA: view

Publications for XPA Gene

  1. Molecular basis of group A Xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene. (PMID: 1339397) Satokata I. … Okada Y. (Hum. Genet. 1992) 3 4 23
  2. Mutational analysis of the structure and function of the Xeroderma pigmentosum group A complementing protein. Identification of essential domains for nuclear localization and DNA excision repair. (PMID: 1601884) Miyamoto I. … Tanaka K. (J. Biol. Chem. 1992) 3 4 23
  3. Identification and characterization of xpac protein, the gene product of the human XPAC (Xeroderma pigmentosum group A complementing) gene. (PMID: 1918083) Miura N. … Okada Y. (J. Biol. Chem. 1991) 3 4 23
  4. Analysis of a human DNA excision repair gene involved in group A Xeroderma pigmentosum and containing a zinc-finger domain. (PMID: 2234061) Tanaka K. … Okada Y. (Nature 1990) 3 4 23
  5. RPA involvement in the damage-recognition and incision steps of nucleotide excision repair. (PMID: 7700386) He Z. … Ingles C.J. (Nature 1995) 3 4 23

Products for XPA Gene

  • Addgene plasmids for XPA

Sources for XPA Gene

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