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XPA Gene

protein-coding   GIFtS: 69
GCID: GC09M100437

Xeroderma Pigmentosum, Complementation Group A

  See XPA-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)
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Aliases
Xeroderma Pigmentosum, Complementation Group A1 2     DNA Repair Protein Complementing XP-A Cells2
XPAC2 3 5     Excision Repair-Controlling2
Xeroderma Pigmentosum Group A-Complementing Protein2 3     Mutant Xeroderma Pigmentosum Complementation Group A2
XP12     

External Ids:    HGNC: 128141   Entrez Gene: 75072   Ensembl: ENSG000001369367   OMIM: 6111535   UniProtKB: P230253   

Export aliases for XPA gene to outside databases

Previous GC identifers: GC09M091262 GC09M092180 GC09M093874 GC09M095817 GC09M097516 GC09M099477 GC09M070038


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 chromosome 9q deletion, and xeroderma pigmentosum, group a. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   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 Chromatin IP Primers for XPA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • ATR-dependent phosphorylation of XPA at Ser-196 is important for cell survival in response to UV damage1
  • Ubiquitinated by HERC2 leading to degradation by the proteasome1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See XPA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000371.1  
    ENSEMBL proteins: 
     ENSP00000433006   ENSP00000364270  
    Reactome Protein details: P23025

    XPA Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for XPA
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    Novus Biologicals XPA Proteins
    Novus Biologicals XPA Lysates
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    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for XPA
    Cloud-Clone Corp. Proteins for XPA

     
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    XPA Assay Products:

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    Search eBioscience for ELISAs for XPA 


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


    Find genes that share domains with XPA           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003684damaged DNA binding IEA--
    GO:0005515protein binding IPI10944529
    GO:0019904protein domain specific binding IPI17720715
    GO:0042803protein homodimerization activity IPI8197175
         
    Find genes that share ontologies with XPA           About GenesLikeMe


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

         Selected 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/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  liver/biliary system  mortality/aging  muscle  nervous system 

    Find genes that share phenotypes with XPA           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for XPA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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-373-3p (MIRT003918), hsa-mir-192-5p (MIRT004137), hsa-mir-210-3p (MIRT003917)

    Block miRNA regulation of human, mouse, rat XPA using miScript Target Protectors
    2 qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for XPA
    Predesigned siRNA for gene silencing in human, mouse, rat XPA

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: XPA (NM_000380)
    Sino Biological Human cDNA Clone for XPA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for XPA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XPA
    Addgene plasmids for XPA 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for XPA 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XPA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    XPA_HUMAN, P23025: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--

    Find genes that share ontologies with XPA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for XPA About    
    See pathways by source

    SuperPathContained pathways About
    1Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.69
    Formation of incision complex in GG-NER0.62
    Nucleotide excision repair0.69
    Nucleotide Excision Repair Pathway0.48
    Dual incision reaction in GG-NER0.62
    2DNA Repair
    Nucleotide Excision Repair0.90
    DNA Repair0.45
    3Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32
    4Transcription P53 signaling pathway
    Transcription P53 signaling pathway


    Find genes that share SuperPaths with XPA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

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


    2 Reactome Pathways for XPA
        Formation of incision complex in GG-NER
    Dual incision reaction in GG-NER


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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for XPA

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

    Selected Interacting proteins for XPA (P230251, 3 ENSP000003642704) via UniProtKB, MINT, STRING, and/or I2D (see all 178)
    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
    RPA1P276943, ENSP000002547194I2D: score=4 STRING: ENSP00000254719
    GPN1Q9HCN43, ENSP000002647184I2D: score=3 STRING: ENSP00000264718
    ATMQ133153, ENSP000002786164I2D: score=2 STRING: ENSP00000278616
    About this table

    Gene Ontology (GO): Selected biological process terms (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--

    Find genes that share ontologies with XPA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for XPA

    Selected 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)



    Find genes that share compounds with XPA           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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 qRT-PCR 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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    GenScript: all cDNA clones in your preferred vector: XPA (NM_000380)
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      QuantiTect SYBR Green Assays in human, mouse, rat XPA
      QuantiFast Probe-based Assays in human, mouse, rat XPA

    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 

    Selected AceView cDNA sequences (see all 82):

    CB305774 AI961077 AA242764 AI949886 CR624117 BM468458 D14533 BC014965 
    BQ001163 AA453544 CA450156 CA454341 CR601727 CB155090 NM_000380 BF115636 
    AW573123 AW196380 AW183069 BF446397 BM796479 AA242743 BM992090 AI634902 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    XPA expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 4) fully expand
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Brain (Nervous System)
             Cerebral Cortex
    XPA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    XPA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654364

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

        Pathway & Disease-focused RT2 Profiler 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
    Products:
    OriGene qPCR primer pairs and template standards for XPA
    OriGene qSTAR qPCR primer pairs in human, mouse for XPA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat XPA
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    QuantiFast Probe-based Assays in human, mouse, rat XPA
    In Situ
    Assay Products:
     

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

    Orthologs for XPA gene from Selected 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 82.95(n)1
    85.5(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 69.95(n)
    68.56(a)
      395659  NM_204853.1  NP_990184.1 
    lizard
    (Anolis carolinensis)
    Reptilia XPA6
    xeroderma pigmentosum, complementation group A
    69(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
    50.55(n)1
    45.79(a)1
      1 4A53
    313571  NM_057518.31  NP_476866.11 
    worm
    (Caenorhabditis elegans)
    Secernentea xpa-11 xpa-1 54.44(n)
    47.34(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

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    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for XPA (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 10 diseases for XPA:    
    About MalaCards
    chromosome 9q deletion    xeroderma pigmentosum, group a    xpa-related xeroderma pigmentosum    mutagen sensitivity
    photosensitive trichothiodystrophy    xeroderma pigmentosum    nevoid basal cell carcinoma syndrome    cockayne syndrome
    progeria    lung cancer

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

    Find genes that share disorders with XPA           About GenesLikeMe

    Selected 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)
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    PubMed articles for XPA gene, integrated from 10 sources (see all 357):
    (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. (Cancer Res. 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. (Hum. Genet. 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. (J. Biol. Chem. 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. (Mol. Vis. 2010)
    5. Nucleotide excision repair pathway genes and oral premalignant lesions. (PubMed id 17575242)1, 4, 9 Wang Y....Wu X. (Clin. Cancer Res. 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. (Cancer Lett. 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. (Cell Cycle 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. (Zhonghua Liu Xing Bing Xue Za Zhi 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. (Oncology 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. (Carcinogenesis 2004)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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)
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    Entrez Gene: 7507 HGNC: 12814 AceView: XPA Ensembl:ENSG00000136936 euGenes: HUgn7507
    ECgene: XPA Kegg: 7507 H-InvDB: XPA

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=XPA[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/xpa/
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/142

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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