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XPC Gene

protein-coding   GIFtS: 70
GCID: GC03M014161

Xeroderma Pigmentosum, Complementation Group C

  See XPC-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 C1 2     XP32
XPCC2 3 5     DNA Repair Protein Complementing XP-C Cells2
p1252 3     Mutant Xeroderma Pigmentosum Group C2
Xeroderma Pigmentosum Group C Protein1     Xeroderma Pigmentosum Group C-Complementing Protein3
RAD42     

External Ids:    HGNC: 128161   Entrez Gene: 75082   Ensembl: ENSG000001547677   OMIM: 6132085   UniProtKB: Q018313   

Export aliases for XPC gene to outside databases

Previous GC identifer: GC03M014115


(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 XPC Gene:
This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components
involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, and
trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of global
genome NER, especially in damage recognition, open complex formation, and repair protein complex formation.
Mutations in this gene or some other NER components result in Xeroderma pigmentosum, a rare autosomal recessive
disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age.
Alternatively spliced transcript variants have been found for this gene. (provided by RefSeq, Mar 2009)

GeneCards Summary for XPC Gene:
XPC (xeroderma pigmentosum, complementation group C) is a protein-coding gene. Diseases associated with XPC include xpc-related xeroderma pigmentosum, and xeroderma pigmentosum, group c. GO annotations related to this gene include bubble DNA binding and single-stranded DNA binding.

UniProtKB/Swiss-Prot: XPC_HUMAN, Q01831
Function: Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and
DNA-binding factor component of the XPC complex. Has only a low DNA repair activity by itself which is stimulated
by RAD23B and RAD23A. Has a preference to bind DNA containing a short single-stranded segment but not to damaged
oligonucleotides. This feature is proposed to be related to a dynamic sensor function: XPC can rapidly screen
duplex DNA for non-hydrogen-bonded bases by forming a transient nucleoprotein intermediate complex which matures
into a stable recognition complex through an intrinsic single-stranded DNA-binding activity
Function: The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together
with other core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial
recognition) complex. The XPC complex recognizes a wide spectrum of damaged DNA characterized by distortions of
the DNA helix such as single-stranded loops, mismatched bubbles or single-stranded overhangs. The orientation of
XPC complex binding appears to be crucial for inducing a productive NER. XPC complex is proposed to recognize and
to interact with unpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex
and subsequent scanning for lesions in the opposite strand in a 5'-to-3' direction by the NER machinery.
Cyclobutane pyrimidine dimers (CPDs) which are formed upon UV-induced DNA damage esacpe detection by the XPC
complex due to a low degree of structural perurbation. Instead they are detected by the UV-DDB complex which in
turn recruits and cooperates with the XPC complex in the respective DNA repair. In vitro, the XPC:RAD23B dimer is
sufficient to initiate NER; it preferentially binds to cisplatin and UV-damaged double-stranded DNA and also
binds to a variety of chemically and structurally diverse DNA adducts. XPC:RAD23B contacts DNA both 5' and 3' of
a cisplatin lesion with a preference for the 5' side. XPC:RAD23B induces a bend in DNA upon binding. XPC:RAD23B
stimulates the activity of DNA glycosylases TDG and SMUG1

Gene Wiki entry for XPC 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_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the XPC gene promoter:
         HOXA9B   HOXA9   Nkx3-1   Nkx3-1 v4   Nkx3-1 v1   GATA-1   GATA-2   Nkx3-1 v2   Nkx3-1 v3   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidXPC promoter sequence
   Search Chromatin IP Primers for XPC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat XPC


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

Entrez Gene cytogenetic band: 3p25   Ensembl cytogenetic band:  3p25.1   HGNC cytogenetic band: 3p25

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M014161:  view genomic region     (about GC identifiers)

Start:
14,186,647 bp from pter      End:
14,220,283 bp from pter
Size:
33,637 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for XPC

(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: XPC_HUMAN, Q01831 (See protein sequence)
Recommended Name: DNA repair protein complementing XP-C cells  
Size: 940 amino acids; 105953 Da
Subunit: Component of the XPC complex composed of XPC, RAD23B and CETN2. Interacts with RAD23A; the interaction is
suggesting the existence of a functional equivalent variant XPC complex. Interacts with TDG; the interaction is
demonstrated using the XPC:RAD23B dimer. Interacts with SMUG1; the interaction is demonstrated using the
XPC:RAD23B dimer. Interacts with DDB2. Interacts with CCNH, GTF2H1 and ERCC3
3 PDB 3D structures from and Proteopedia for XPC:
2A4J (3D)        2GGM (3D)        2OBH (3D)    
Secondary accessions: B4DIP3 E9PH69 Q53GT7 Q96AX0
Alternative splicing: 2 isoforms:  Q01831-1   Q01831-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for XPC: NX_Q01831

Explore proteomics data for XPC at MOPED

Post-translational modifications: 

  • Ubiquitinated upon UV irradiation; the ubiquitination requires the UV-DDB complex, appears to be reversible and
    does not serve as a signal for degradation1
  • Ubiquitination2 at Lys161, Lys174, Lys183, Lys750, Lys849
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001139241.1  NP_004619.3  

    ENSEMBL proteins: 
     ENSP00000285021   ENSP00000424548   ENSP00000423867   ENSP00000404002  
    Reactome Protein details: Q01831

    XPC Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for XPC
    GenScript Custom Purified and Recombinant Proteins Services for XPC
    Novus Biologicals XPC Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for XPC

     
    Search eBioscience for Proteins for XPC 

    XPC Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for XPC 
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    OriGene Custom Antibody Services for XPC
    Novus Biologicals XPC Antibodies
    Abcam antibodies for XPC
    Cloud-Clone Corp. Antibodies for XPC
    ThermoFisher Antibody for XPC
    LSBio Antibodies in human, mouse, rat for XPC

    XPC Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for XPC
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for XPC
    Cloud-Clone Corp. CLIAs for XPC
    Search eBioscience for ELISAs for XPC 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR018328 Rad4_beta-hairpin_dom3
     IPR018326 Rad4_beta-hairpin_dom1
     IPR018325 Rad4/PNGase_transGLS-fold
     IPR018026 DNA_repair_Rad4_subgr
     IPR018327 Rad4_beta-hairpin_dom2

    Graphical View of Domain Structure for InterPro Entry Q01831

    ProtoNet protein and cluster: Q01831

    1 Blocks protein domain: IPB004583 DNA repair protein Rad4

    UniProtKB/Swiss-Prot: XPC_HUMAN, Q01831
    Similarity: Belongs to the XPC family


    Find genes that share domains with XPC           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: XPC_HUMAN, Q01831
    Function: Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and
    DNA-binding factor component of the XPC complex. Has only a low DNA repair activity by itself which is stimulated
    by RAD23B and RAD23A. Has a preference to bind DNA containing a short single-stranded segment but not to damaged
    oligonucleotides. This feature is proposed to be related to a dynamic sensor function: XPC can rapidly screen
    duplex DNA for non-hydrogen-bonded bases by forming a transient nucleoprotein intermediate complex which matures
    into a stable recognition complex through an intrinsic single-stranded DNA-binding activity
    Function: The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together
    with other core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial
    recognition) complex. The XPC complex recognizes a wide spectrum of damaged DNA characterized by distortions of
    the DNA helix such as single-stranded loops, mismatched bubbles or single-stranded overhangs. The orientation of
    XPC complex binding appears to be crucial for inducing a productive NER. XPC complex is proposed to recognize and
    to interact with unpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex
    and subsequent scanning for lesions in the opposite strand in a 5'-to-3' direction by the NER machinery.
    Cyclobutane pyrimidine dimers (CPDs) which are formed upon UV-induced DNA damage esacpe detection by the XPC
    complex due to a low degree of structural perurbation. Instead they are detected by the UV-DDB complex which in
    turn recruits and cooperates with the XPC complex in the respective DNA repair. In vitro, the XPC:RAD23B dimer is
    sufficient to initiate NER; it preferentially binds to cisplatin and UV-damaged double-stranded DNA and also
    binds to a variety of chemically and structurally diverse DNA adducts. XPC:RAD23B contacts DNA both 5' and 3' of
    a cisplatin lesion with a preference for the 5' side. XPC:RAD23B induces a bend in DNA upon binding. XPC:RAD23B
    stimulates the activity of DNA glycosylases TDG and SMUG1

         Genatlas biochemistry entry for XPC:
    component p125 (125kDa) of genome overall nucleotide excision repair complex,in tight association with UBE3B
    (RAD23B)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000404loop DNA binding TAS19941824
    GO:0000405bubble DNA binding TAS19941824
    GO:0003677DNA binding ----
    GO:0003684damaged DNA binding IDA10873465
    GO:0003697single-stranded DNA binding IDA12509299
         
    Find genes that share ontologies with XPC           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for XPC:
     Decreased cell number  Decreased homologous recombina  Decreased viability of wild-ty  G0/1 arrest 
     Upregulation of Wnt/beta-caten 

         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Xpc):
     behavior/neurological  cellular  growth/size/body  homeostasis/metabolism  integument 
     mortality/aging  nervous system  tumorigenesis  vision/eye 

    Find genes that share phenotypes with XPC           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for XPC: Xpctm1Brd Xpctm1Ecf

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for XPC
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for XPC

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target XPC:
    hsa-mir-155-5p (MIRT020495), hsa-mir-25-3p (MIRT050279)

    Block miRNA regulation of human, mouse, rat XPC using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate XPC (see all 9):
    hsa-miR-577 hsa-miR-3163 hsa-miR-922 hsa-miR-513c hsa-miR-373* hsa-miR-29a* hsa-miR-616* hsa-miR-1827
    SwitchGear 3'UTR luciferase reporter plasmidXPC 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for XPC
    Predesigned siRNA for gene silencing in human, mouse, rat XPC

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for XPC

    Clone
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    OriGene ORF clones in mouse, rat for XPC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): XPC (NM_004628)
    Sino Biological Human cDNA Clone for XPC
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for XPC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XPC
    Addgene plasmids for XPC 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for XPC 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XPC


    (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
    XPC_HUMAN, Q01831: Nucleus. Cytoplasm. Note=Omnipresent in the nucleus and consistently associates with and
    dissociates from DNA in the absence of DNA damage. Continuously shuttles between the cytoplasm and the nucleus,
    which is impeded by the presence of NER lesions
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion1
    peroxisome1
    plasma membrane1

    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:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA18682493
    GO:0005886plasma membrane IDA--

    Find genes that share ontologies with XPC           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 XPC About   (see all 6)  
    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
    DNA Damage Recognition in GG-NER0.00
    2DNA Repair
    Nucleotide Excision Repair0.90
    DNA Repair0.45
    3Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control0.32
    DNA Damage0.32
    4Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32
    5Transcription P53 signaling pathway
    Transcription P53 signaling pathway


    Find genes that share SuperPaths with XPC           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    2 Cell Signaling Technology (CST) Pathways for XPC
        Cell Cycle / Checkpoint Control
    DNA Damage

    2 GeneGo (Thomson Reuters) Pathways for XPC
        DNA damage Role of Brca1 and Brca2 in DNA repair
    Transcription P53 signaling pathway


    3 Reactome Pathways for XPC
        DNA Damage Recognition in GG-NER
    Formation of incision complex in GG-NER
    Dual incision reaction in GG-NER


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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including XPC (see all 6): 
              Stem Cell Transcription Factors in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat
              Cancer Drug Resistance in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for XPC

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

    Selected Interacting proteins for XPC (Q018311, 2, 3 ENSP000002850214) via UniProtKB, MINT, STRING, and/or I2D (see all 177)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CETN2P412081, 3, ENSP000003593004EBI-372610,EBI-1789926 I2D: score=3 STRING: ENSP00000359300
    CHAF1AQ131112, 3, ENSP000003012804MINT-7263800 I2D: score=2 STRING: ENSP00000301280
    GTF2H1P327801, 3, ENSP000002659634EBI-372610,EBI-715539 I2D: score=2 STRING: ENSP00000265963
    ERCC4Q928892, 3, ENSP000003105204MINT-7263772 I2D: score=1 STRING: ENSP00000310520
    OGG1O155272, 3, ENSP000003065614MINT-3292209 I2D: score=1 STRING: ENSP00000306561
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000715nucleotide-excision repair, DNA damage recognition TAS--
    GO:0000718nucleotide-excision repair, DNA damage removal TAS--
    GO:0006281DNA repair TAS--
    GO:0006289nucleotide-excision repair TAS--
    GO:0006974cellular response to DNA damage stimulus ----

    Find genes that share ontologies with XPC           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 XPC

    Selected Novoseek inferred chemical compound relationships for XPC gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    poly a-t 81.7 2 15886698 (1), 15863269 (1)
    2-acetylaminofluorene 42.5 4 11376686 (1), 10029060 (1)
    benzo(a)pyrene 41 6 17900831 (2), 19553035 (2), 19428948 (1)
    cisplatin 27.9 14 15353127 (5), 15107491 (5), 15882455 (1), 16849332 (1) (see all 6)
    tyrosine 25.9 27 8910389 (3), 7681835 (3), 8955182 (2), 7929090 (2) (see all 17)
    cytochalasin d 25.5 1 8910389 (1)
    wortmannin 23.7 1 8955182 (1)
    ly294002 18.3 1 8955182 (1)
    thymine 10.7 1 12505994 (1)
    oligonucleotide 0 1 17355181 (1)

    1 PharmGKB related drug/compound annotation for XPC gene    About this table
    Drug/compound PharmGKB Annotation
    cisplatinCA  



    Find genes that share compounds with XPC           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 )
    About This Section

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    REFSEQ mRNAs for XPC gene (2 alternative transcripts): 
    NM_001145769.1  NM_004628.4  

    Unigene Cluster for XPC:

    Xeroderma pigmentosum, complementation group C
    Hs.475538  [show with all ESTs]
    Unigene Representative Sequence: NM_004628
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000285021(uc011ave.2 uc011avf.2 uc011avg.2) ENST00000476581
    ENST00000427795 ENST00000477324 ENST00000455144 ENST00000452172 ENST00000511155
    ENST00000449060(uc021wtl.1 uc021wtm.1)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate XPC (see all 9):
    hsa-miR-577 hsa-miR-3163 hsa-miR-922 hsa-miR-513c hsa-miR-373* hsa-miR-29a* hsa-miR-616* hsa-miR-1827
    SwitchGear 3'UTR luciferase reporter plasmidXPC 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat XPC
    Clone
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    OriGene ORF clones in mouse, rat for XPC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): XPC (NM_004628)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XPC
    Addgene plasmids for XPC 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for XPC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat XPC
      QuantiTect SYBR Green Assays in human, mouse, rat XPC
      QuantiFast Probe-based Assays in human, mouse, rat XPC

    Additional mRNA sequence: 

    AK222844.1 AK289761.1 AK295711.1 AK311039.1 BC016620.1 D21089.1 EU530522.1 EU530523.1 
    EU530524.1 EU530525.1 EU530526.1 EU530527.1 EU530529.1 EU530531.1 EU530532.1 EU530534.1 
    HM113488.1 NR_027299.1 X65024.1 

    16 DOTS entries:

    DT.213627  DT.97809299  DT.100027621  DT.120920057  DT.75137024  DT.92033093  DT.100796427  DT.95081053 
    DT.120919961  DT.120919988  DT.120920001  DT.120920007  DT.95236198  DT.95236202  DT.99954142  DT.99988460 

    Selected AceView cDNA sequences (see all 238):

    AU130155 BE221715 AU125870 BM827376 AI091587 CB269927 AI983317 BX957075 
    BF591481 AL710884 BQ892451 CR615074 CA435788 BE278952 AU120699 CD619031 
    CF129648 BU631737 BU506961 CA748472 BX283619 BU732629 BG571695 BG751164 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for XPC (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^
    SP1:                                                                                            -                                                               
    SP2:                                                                                                                                                            
    SP3:                                                        -     -                                                                                             
    SP4:                                                  -     -     -                                                                                             
    SP5:                          -                                                                                                                                 

    ExUns: 15a · 15b ^ 16a · 16b ^ 17a · 17b
    SP1:        -     -                     
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for XPC

    (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)
    About This Section

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


    XPC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    XPC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    XPC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.475538
        Pathway & Disease-focused RT2 Profiler PCR Arrays including XPC (see all 6): 
              Stem Cell Transcription Factors in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat
              Cancer Drug Resistance in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

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

    (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 XPC gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Xpc1 , 5 xeroderma pigmentosum, complementation group C1, 5 78.63(n)1
    74.35(a)1
      6 (40.55 cM)5
    225911  NM_009531.21  NP_033557.21 
     914893055 
    chicken
    (Gallus gallus)
    Aves XPC1 xeroderma pigmentosum, complementation group C 66.25(n)
    64.74(a)
      416039  XM_414379.4  XP_414379.3 
    lizard
    (Anolis carolinensis)
    Reptilia XPC6
    xeroderma pigmentosum, complementation group C
    55(a)
    1 ↔ 1
    2(169431085-169455314)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ066411.12   -- 73.69(n)    BJ066411.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570380562   -- 78.72(n)    57038056 
    fruit fly
    (Drosophila melanogaster)
    Insecta mus2103 nucleotide-excision repair damaged DNA
    binding
    49(a)   2 51F5   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y76B12C.23   -- 39(a)   IV(1993096-2007897)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RAD4(YER162C)4 Protein that recognizes and binds damaged DNA (with more   --   5(502894-500630) 856909  NP_011089.1 


    ENSEMBL Gene Tree for XPC (if available)
    TreeFam Gene Tree for XPC (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)
    About This Section

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    Selected SNPs for XPC (see all 929)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs747373581,2,,4
    C,FXeroderma pigmentosum complementation group C (XP-C)4 pathogenic114135979(+) TGGAAA/C/G/
            
    GTTTC
    5 H P mis11WA 118
    VAR_0640394
    Xeroderma pigmentosum complementation group C (XP-C)4--see VAR_0640392 W S mis40--------
    rs1219650881,2
    Cpathogenic114135245(-) GGGTCC/TGAGAT 5 R * stg10--------
    rs1219650901,2
    C,Fprobable-pathogenic114135803(-) AGAAAC/TGGAGC 5 R W mis11Minor allele frequency- T:0.00EU 593
    rs113393081,2
    C--14121760(+) AGCAA-/CCCCAG 3 -- ds50010--------
    rs37311891,2
    C,F--14121835(-) GGAAAC/TAAACA 3 -- ds50015Minor allele frequency- T:0.02NS NA 426
    rs37311881,2
    C,H--14121846(-) TTTTAT/GCCAAG 3 -- ds50015Minor allele frequency- G:0.00NS EA 586
    rs1856644021,2
    C--14121922(+) CATATA/GTAATG 3 -- ds50010--------
    rs37311871,2
    C,F,H--14121960(-) TGAAAG/AAGTCC 3 -- ds500111Minor allele frequency- A:0.02NS EA NA WA 1380
    rs1473556891,2
    --14121978(+) TCAACA/GTATGA 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for XPC (14186647 - 14220283 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for XPC:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv3070CNV Deletion18987735
    esv2724953CNV Deletion23290073
    esv2724952CNV Deletion23290073
    esv2208680CNV Deletion18987734
    esv2724945CNV Deletion23290073
    nsv876550CNV Loss21882294
    esv34163CNV Loss18971310
    nsv521096CNV Loss19592680

    Human Gene Mutation Database (HGMD): XPC
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing XPC
    DNA2.0 Custom Variant and Variant Library Synthesis for XPC

    (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.)
    About This Section

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    OMIM gene information: 613208   
    OMIM disorders: 278720  
    UniProtKB/Swiss-Prot: XPC_HUMAN, Q01831
  • Xeroderma pigmentosum complementation group C (XP-C) [MIM:278720]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for XPC:    
    About MalaCards
    xpc-related xeroderma pigmentosum    xeroderma pigmentosum, group c    xeroderma pigmentosum    xeroderma pigmentosum, group d
    gallbladder adenocarcinoma    cockayne syndrome    li-fraumeni syndrome    mutagen sensitivity
    photosensitive trichothiodystrophy    lung cancer

    5 diseases from the University of Copenhagen DISEASES database for XPC:
    Xeroderma pigmentosum     Cockayne syndrome     Skin cancer     Photosensitive trichothiodystrophy
    Urinary bladder cancer

    Find genes that share disorders with XPC           About GenesLikeMe

    Selected Novoseek inferred disease relationships for XPC gene (see all 26)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xeroderma pigmentosum 95.4 80 15964821 (2), 17693435 (2), 16105547 (2), 16627479 (2) (see all 60)
    xeroderma pigmentosum, complementation group e 83.3 1 19382146 (1)
    xeroderma 75.8 3 15863269 (1), 17355181 (1), 18177054 (1)
    skin cancer 73.5 19 8994835 (2), 10749125 (2), 11376686 (2), 15863269 (2) (see all 12)
    cockayne syndrome 66.8 1 9415314 (1)
    skin tumor 48.1 1 12173040 (1)
    li-fraumeni syndrome 47.9 1 12242345 (1)
    bladder cancer 44.7 17 17052994 (5), 14688016 (2), 15886698 (2), 17510383 (2) (see all 7)
    cancer 39.2 14 18771913 (3), 16081512 (2), 16965652 (1), 20388771 (1) (see all 10)
    genetic susceptibility 36.3 1 16965652 (1)

    Genatlas disease: XPC
    xeroderma pigmentosum,group C (common form),with associated TP53 mutations in skin and internal tumors (glioma)

    GeneTests: XPC
    GeneReviews: XPC
    Genetic Association Database (GAD): XPC
    Human Genome Epidemiology (HuGE) Navigator: XPC (150 documents)

    Export disorders for XPC 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

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    PubMed articles for XPC gene, integrated from 10 sources (see all 426):
    (articles sorted by number of sources associating them with XPC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression cloning of a human DNA repair gene involved in Xeroderma pigmentosum group C. (PubMed id 1522891)1, 2, 3 Legerski R.J. and Peterson C.A. (Nature 1992)
    2. Versatile DNA damage detection by the global genome nucleotide excision repair protein XPC. (PubMed id 18682493)1, 2, 9 Hoogstraten D....Houtsmuller A.B. (J. Cell Sci. 2008)
    3. In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation. (PubMed id 17682058)1, 2, 9 Yasuda G.... Sugasawa K. (Mol. Cell. Biol. 2007)
    4. [Correlation of XPC Ala499Val and Lys939Gln polymorphisms to risks of esophageal squamous cell carcinoma and gastric cardiac adenocarcinoma]. (PubMed id 16965652)1, 4, 9 Zhou R.M....Guo W. (Ai Zheng 2006)
    5. Modulation of DNA damage/DNA repair capacity by XPC polymorphisms. (PubMed id 17923445)1, 4, 9 Zhu Y....Gu J. (DNA Repair (Amst.) 2008)
    6. Polymorphisms of the DNA repair gene XPA and XPC and its correlation with gastric cardiac adenocarcinoma in a high incidence population in North China. (PubMed id 18645534)1, 4, 9 Dong Z....Wang S. (J. Clin. Gastroenterol. 2008)
    7. Genotypes, haplotypes and diplotypes of XPC and risk of bladder cancer. (PubMed id 17052994)1, 4, 9 Zhu Y....Wu X. (Carcinogenesis 2007)
    8. Flexibility and plasticity of human centrin 2 binding to the xeroderma pigmentosum group C protein (XPC) from nuclear excision repair. (PubMed id 16533048)1, 2, 9 Yang A....Craescu C.T. (Biochemistry 2006)
    9. UV-induced ubiquitylation of XPC protein mediated by UV-DDB-ubiquitin ligase complex. (PubMed id 15882621)1, 2, 9 Sugasawa K.... Hanaoka F. (Cell 2005)
    10. Two-stage dynamic DNA quality check by xeroderma pigmentosum group C protein. (PubMed id 19609301)1, 2, 9 Camenisch U.... Naegeli H. (EMBO J. 2009)

    (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)
    About This Section

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    Entrez Gene: 7508 HGNC: 12816 AceView: XPC Ensembl:ENSG00000154767 euGenes: HUgn7508
    ECgene: XPC Kegg: 7508 H-InvDB: XPC

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for XPC Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for XPC 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=XPC[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/xpc/

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

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



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