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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

XPA Gene

protein-coding   GIFtS: 72
GCID: GC09M100437

Xeroderma Pigmentosum, Complementation Group A

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Xeroderma Pigmentosum, Complementation Group A1 2
XPAC2 3 5
Xeroderma Pigmentosum Group A-Complementing Protein2 3
XP12
DNA Repair Protein Complementing XP-A Cells2
Excision Repair-Controlling2

External Ids:    HGNC: 128141   Entrez Gene: 75072   Ensembl: ENSG000001369367   OMIM: 6111535   UniProtKB: P230253   
ORGUL members:         
NONCODE14:n385639 n407779      

Export aliases for XPA gene to outside databases

Previous GC identifers: GC09M091262 GC09M092180 GC09M093874 GC09M095817 GC09M097516 GC09M099477 GC09M070038


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and is affiliated with the lncRNA class. Diseases associated with XPA include xeroderma pigmentosum, group a, and chromosome 9q deletion, and among its related super-pathways are Global Genomic NER (GG-NER) and Transcription-coupled NER (TC-NER). GO annotations related to this gene include protein homodimerization activity and protein domain specific binding.

UniProtKB/Swiss-Prot: XPA_HUMAN, P23025
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 Wiki entry for XPA Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the XPA gene promoter:
         GR   Max1   USF1   FOXD1   Lmo2   Tal-1beta   USF-1   GR-alpha   ITF-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidXPA promoter sequence
   Search SABiosciences Chromatin IP Primers for XPA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat XPA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q22.3   Ensembl cytogenetic band:  9q22.33   HGNC cytogenetic band: 9q22.3

XPA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XPA gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M100437:  view genomic region     (about GC identifiers)

Start:
100,437,191 bp from pter      End:
100,459,691 bp from pter
Size:
22,501 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for XPA

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: XPA_HUMAN, P23025 (See protein sequence)
Recommended Name: DNA repair protein complementing XP-A cells  
Size: 273 amino acids; 31368 Da
Subunit: Interacts with GPN1 and RPA1. Interacts (via N-terminus) with CEP164 upon UV irradiation. Interacts with
HERC2
Subcellular location: Nucleus
3 PDB 3D structures from and Proteopedia for XPA:
1D4U (3D)        1XPA (3D)        2JNW (3D)    
Secondary accessions: Q5T1U9 Q6LCW7 Q6LD02

Explore the universe of human proteins at neXtProt for XPA: NX_P23025

Explore proteomics data for XPA at MOPED 

Post-translational modifications:

  • UniProtKB: ATR-dependent phosphorylation of XPA at Ser-196 is important for cell survival in response to UV damage
  • UniProtKB: Ubiquitinated by HERC2 leading to degradation by the proteasome
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P23025

  • XPA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    XPA Protein Expression
    REFSEQ proteins: NP_000371.1  
    ENSEMBL proteins: 
     ENSP00000433006   ENSP00000364270  
    Reactome Protein details: P23025
    Human Recombinant Protein Products for XPA: 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    OriGene Protein Over-expression Lysate for XPA
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    OriGene Custom Protein Services for XPA
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    Novus Biologicals XPA Proteins
    Novus Biologicals XPA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for XPA
    Cloud-Clone Corp. Proteins for XPA 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS1601884
    GO:0005654nucleoplasm TAS--

    XPA for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for XPA 

    Assay Products for XPA: 
    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for XPA 
    Cloud-Clone Corp. CLIAs for XPA


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR009061 DNA-bd_dom_put
     IPR022658 XPA_CS
     IPR022652 Znf_XPA_CS
     IPR022656 XPA_C
     IPR000465 XPA

    Graphical View of Domain Structure for InterPro Entry P23025

    ProtoNet protein and cluster: P23025

    1 Blocks protein domain: IPB000465 XPA protein

    UniProtKB/Swiss-Prot: XPA_HUMAN, P23025
    Similarity: Belongs to the XPA family


    XPA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: XPA_HUMAN, P23025
    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 entry for XPA:
    complementing repair defect in UV irradiated xeroderma pigmentation group A cells,yeast RAD14 homolog

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003684damaged DNA binding IEA--
    GO:0005515protein binding IPI10944529
    GO:0019904protein domain specific binding IPI17720715
    GO:0042803protein homodimerization activity IPI8197175
         
    XPA for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for XPA:
     Increased G2M DNA content 

         15/20 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Xpa) (see all 20):
     adipose tissue  behavior/neurological  cellular  craniofacial  endocrine/exocrine gland 
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  liver/biliary system  mortality/aging  muscle  nervous system 

    XPA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for XPA: Xpatm1Hvs Xpatm1Tnka

       inGenious Targeting Laboratory - Custom generated mouse model solutions for XPA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for XPA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for XPA 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for XPA 

    miRNA
    Products:
        
    miRTarBase miRNAs that target XPA:
    hsa-mir-373 (MIRT003918), hsa-mir-192 (MIRT004137), hsa-mir-210 (MIRT003917)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat XPA
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate XPA:
    hsa-miR-3163 hsa-miR-513a-3p
    SwitchGear 3'UTR luciferase reporter plasmidXPA 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of XPA

    Clone
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    GenScript: all cDNA clones in your preferred vector: XPA (NM_000380)
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    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XPA


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for XPA About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.70
    Formation of incision complex in GG-NER0.61
    Nucleotide excision repair0.70
    Nucleotide Excision Repair Pathway0.49
    Dual incision reaction in GG-NER0.61
    2Nucleotide Excision Repair
    Nucleotide Excision Repair0.90
    DNA Repair0.46
    3Transcription P53 signaling pathway
    Transcription P53 signaling pathway0.98
    4Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for XPA
        Transcription P53 signaling pathway

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for XPA
        DNA Repair Mechanisms
    Nucleotide Excision Repair Pathway

    1 GeneGo (Thomson Reuters) Pathway for XPA
        Transcription P53 signaling pathway


    5        Reactome Pathways for XPA
        DNA Repair
    Global Genomic NER (GG-NER)
    Nucleotide Excision Repair
    Formation of incision complex in GG-NER
    Dual incision reaction in GG-NER


    1         Kegg Pathway  (Kegg details for XPA):
        Nucleotide excision repair


    XPA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for XPA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/47 Interacting proteins for XPA (P230251, 3 ENSP000003642704) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPA2P159271, 3, ENSP000003630214EBI-295222,EBI-621404 I2D: score=4 STRING: ENSP00000363021
    XAB2Q9HCS71, 3, ENSP000003511374EBI-295222,EBI-295232 I2D: score=3 STRING: ENSP00000351137
    GPN1Q9HCN43, ENSP000002647184I2D: score=3 STRING: ENSP00000264718
    ERCC6Q034683, ENSP000003480894I2D: score=2 STRING: ENSP00000348089
    GTF2H1P327803, ENSP000002659634I2D: score=2 STRING: ENSP00000265963
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000718nucleotide-excision repair, DNA damage removal TAS--
    GO:0006281DNA repair TAS--
    GO:0006289nucleotide-excision repair TAS--
    GO:0006979response to oxidative stress IEA--
    GO:0008630intrinsic apoptotic signaling pathway in response to DNA damage IEA--

    XPA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    XPA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for XPA

    10/16 Novoseek inferred chemical compound relationships for XPA gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cisplatin 59.1 40 14563950 (5), 15820060 (4), 14676109 (3), 11163512 (3) (see all 16)
    cpds 57.8 3 11705987 (1), 11278856 (1)
    oxaliplatin 46.5 6 18204222 (3), 12504667 (1), 15213713 (1)
    benzo(a)pyrene 40.1 2 17900831 (2)
    zinc 34.1 34 1339397 (4), 9761477 (3), 7526200 (3), 10783332 (3) (see all 11)
    psoralen 33.2 2 16678501 (1), 11972036 (1)
    2-acetylaminofluorene 29.9 4 15882075 (1)
    mitomycin c 15.3 13 17512921 (4), 11401562 (2), 16678501 (1)
    cobalt 11.4 1 9761477 (1)
    cadmium 5.82 8 10783332 (3), 17512921 (2)

    Search CenterWatch for drugs/clinical trials and news about XPA

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for XPA gene: 
    NM_000380.3  

    Unigene Cluster for XPA:

    Xeroderma pigmentosum, complementation group A
    Hs.654364  [show with all ESTs]
    Unigene Representative Sequence: NR_027302
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000462523(uc004axs.4) ENST00000375128(uc004axr.4) ENST00000485042
    ENST00000496104
    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate XPA:
    hsa-miR-3163 hsa-miR-513a-3p
    SwitchGear 3'UTR luciferase reporter plasmidXPA 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    BC014965.1 BT019518.1 D14533.1 NR_027302.1 

    8 DOTS entries:

    DT.111331  DT.100639812  DT.100749805  DT.97826676  DT.100021004  DT.97798745  DT.111332  DT.75107830 

    24/82 AceView cDNA sequences (see all 82):

    D14533 AA453544 CA454341 CA450156 CB305774 BQ001163 AI949886 BC014965 
    AA242764 BM468458 CR601727 AI961077 CR624117 NM_000380 CB155090 BF115636 
    CB048343 BI792983 BV199260 AA778076 BI668635 AI990924 AA166911 BM739320 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    XPA expression in normal human tissues (normalized intensities)      XPA embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTTTTTAG
    XPA Expression
    About this image


    XPA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/33 selected tissues (see all 33) fully expand
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             seminal vesicle ; glandular cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   
     
     Epithelium (Uncategorized)    fully expand to see all 3 entries
             vagina ; squamous epithelial cells   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   

    See XPA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for XPA

    SOURCE GeneReport for Unigene cluster: Hs.654364

    UniProtKB/Swiss-Prot: XPA_HUMAN, P23025
    Tissue specificity: Expressed in various cell lines and in skin fibroblasts

        SABiosciences Expression via Pathway-Focused PCR Arrays including XPA (see all 6): 
              DNA Damage Signaling Pathway in human mouse rat
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat
              Cancer Drug Resistance in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat XPA
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XPA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for XPA gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Xpa1 , 5 xeroderma pigmentosum, complementation group A1, 5 83.84(n)1
    87.4(a)1
      4 (24.49 cM)5
    225901  NM_011728.21  NP_035858.21 
     461553475 
    chicken
    (Gallus gallus)
    Aves XPA1 xeroderma pigmentosum, complementation group A 70.98(n)
    70.2(a)
      395659  NM_204853.1  NP_990184.1 
    lizard
    (Anolis carolinensis)
    Reptilia XPA6
    Uncharacterized protein
    70(a)
    1 ↔ 1
    GL343544.1(104959-122144)
    African clawed frog
    (Xenopus laevis)
    Amphibia XPAC2 xpacx1 protein 75.35(n)    D31894.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc636402 hypothetical protein MGC63640 72.82(n)   393443  BC055179.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Xpac1 , 3 nucleotide-excision repair3
    Xeroderma pigmentosum group A-like1
    42(a)3
    50.79(n)1
    46.15(a)1
      1 4A53
    313571  NM_057518.31  NP_476866.11 
    worm
    (Caenorhabditis elegans)
    Secernentea xpa-11 Protein XPA-1 54.04(n)
    45.45(a)
      187120  NM_059624.1  NP_492025.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RAD14(YMR201C)4 Protein that recognizes and binds damaged DNA during more   --   13(667044-665845) 855241  NP_013928.1 


    ENSEMBL Gene Tree for XPA (if available)
    TreeFam Gene Tree for XPA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/552 SNPs in XPA are shown (see all 552)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0077294
    Xeroderma pigmentosum complementation group A (XP-A)4--see VAR_0077292 R K mis40--------
    VAR_0077314
    Xeroderma pigmentosum complementation group A (XP-A)4--see VAR_0077312 H R mis40--------
    VAR_0077304
    Xeroderma pigmentosum complementation group A (XP-A)4--see VAR_0077302 Q H mis40--------
    VAR_0077274
    Xeroderma pigmentosum complementation group A (XP-A)4--see VAR_0077272 P L mis40--------
    VAR_0077284
    Xeroderma pigmentosum complementation group A (XP-A)4--see VAR_0077282 C F mis40--------
    rs1048941321,2
    Cpathogenic1100454327(-) TGCGGC/TGAGCA 3 R * stg10--------
    rs1048941331,2
    Cpathogenic1100463721(-) AAGTCC/TGACAG 3 R * stg10--------
    rs1048941341,2
    Cpathogenic1100468319(-) TCTTAA/TCTTAT 3 * Y stg10--------
    rs1048941311,2
    Cpathogenic1100468344(-) AGAATG/TTGGGA 3 C F mis10--------
    rs31767301,2
    C,F--100441157(-) cacttG/-gggca 2 -- int11Minor allele frequency- -:0.01NS 162

    HapMap Linkage Disequilibrium report for XPA (100437191 - 100459691 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for XPA:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv893610CNV Gain21882294


    Human Gene Mutation Database (HGMD): XPA
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing XPA
    DNA2.0 Custom Variant and Variant Library Synthesis for XPA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611153   
    OMIM disorders: 278700  
    UniProtKB/Swiss-Prot: XPA_HUMAN, P23025
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/61 diseases for XPA (see all 61):    About MalaCards
    xeroderma pigmentosum, group a    chromosome 9q deletion    multiple self healing squamous epithelioma    xeroderma pigmentosum, type 1
    xpa-related xeroderma pigmentosum    xeroderma pigmentosum    nevoid basal cell carcinoma syndrome    mutagen sensitivity
    progeria    skin cancer    pandas    basal cell carcinoma
    pterygium    autosomal recessive disease    germ cell cancer    ataxia telangiectasia
    neurologic diseases    lung adenocarcinoma    protein s deficiency    seminoma

    4 diseases from the University of Copenhagen DISEASES database for XPA:
    Xeroderma pigmentosum     Cockayne syndrome     Photosensitive trichothiodystrophy     Skin cancer

    XPA for disorders           About GeneDecksing

    10/21 Novoseek inferred disease relationships for XPA gene (see all 21)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xeroderma pigmentosum 96.4 126 1918083 (2), 10340474 (2), 1339397 (2), 9753735 (2) (see all 93)
    trichothiodystrophy 76.4 1 11104904 (1)
    xeroderma 75.2 4 10841197 (1), 15820060 (1), 15116327 (1)
    cockayne syndrome 74.9 3 9415314 (1), 10601636 (1), 11104904 (1)
    skin cancer 68.4 6 16905156 (1), 9415314 (1), 12509227 (1), 10602497 (1) (see all 5)
    skin tumor 58.6 1 9180928 (1)
    ataxia telangiectasia 33.7 2 16862173 (1), 16540648 (1)
    cancer 33.2 15 11378441 (2), 11212280 (1), 16315315 (1), 15095299 (1) (see all 9)
    carcinoma basal cell 28.7 1 15116327 (1)
    cancer lung 24.8 12 15333465 (3), 16550608 (2), 15837542 (2), 15820060 (1) (see all 6)

    Genatlas disease: XPA
    xeroderma pigmentosum,complementation group A

    GeneTests: XPA
    GeneReviews: XPA
    Genetic Association Database (GAD): XPA
    Human Genome Epidemiology (HuGE) Navigator: XPA (82 documents)

    Export disorders for XPA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for XPA gene, integrated from 9 sources (see all 349):
    (articles sorted by number of sources associating them with XPA)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 16540648)1, 2, 9 Wu X....Zou Y. (2006)
    2. Molecular basis of group A Xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene. (PubMed id 1339397)1, 2, 9 Satokata I.... Okada Y. (1992)
    3. Identification and characterization of xpac protein, the gene product of the human XPAC (Xeroderma pigmentosum group A complementing) gene. (PubMed id 1918083)1, 2, 9 Miura N.... Okada Y. (1991)
    4. Pterygium and genetic polymorphisms of the DNA repair enzymes XRCC1, XPA, and XPD. (PubMed id 20431719)1, 4, 9 Chiang C.C....Tsai F.J. (2010)
    5. Nucleotide excision repair pathway genes and oral premalignant lesions. (PubMed id 17575242)1, 4, 9 Wang Y....Wu X. (2007)
    6. Combinations of polymorphisms in XPD, XPC and XPA in relation to risk of lung cancer. (PubMed id 15837542)1, 4, 9 Vogel U....Raaschou-Nielsen O. (2005)
    7. UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity. (PubMed id 19197159)1, 2, 9 Pan Y.R. and Lee E.Y. (2009)
    8. [Study on the relationship between polymorphisms of XPA gene and susceptibility of esophageal cancer] (PubMed id 19173862)1, 4, 9 Feng X.X....Lu Z.X. (2008)
    9. Single nucleotide polymorphisms in nucleotide excision repair genes XPA, XPD, XPG and ERCC1 in advanced colorectal cancer patients treated with first-line oxaliplatin/fluoropyrimidine. (PubMed id 18204222)1, 4, 9 Monzo M....Navarro-Vigo M. (2007)
    10. Specific combinations of DNA repair gene variants and increased risk for non-small cell lung cancer. (PubMed id 15333465)1, 4, 9 Popanda O....Schmezer P. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7507 HGNC: 12814 AceView: XPA Ensembl:ENSG00000136936 euGenes: HUgn7507
    ECgene: XPA Kegg: 7507 H-InvDB: XPA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for XPA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for XPA Genetics and Cytogenetics in Oncology and Haematology
    Allelic variations of the XP geneshttp://www.xpmutations.org/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/XPA
    NIEHS-SNPshttp://egp.gs.washington.edu/data/xpa/
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt142.shtml

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for XPA gene:
    Search GeneIP for patents involving XPA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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