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

XPC Gene

protein-coding   GIFtS: 70
GCID: GC03M014161

Xeroderma Pigmentosum, Complementation Group C

  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 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   
ORGUL members:         
NONCODE14:n339257 n407776      

Export aliases for XPC gene to outside databases

Previous GC identifer: GC03M014115


(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 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, and is affiliated with the lncRNA class. Diseases associated with XPC include xeroderma pigmentosum, and xeroderma pigmentosum, group c, 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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_022517.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for XPC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: 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
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:

  • UniProtKB: Ubiquitinated upon UV irradiation; the ubiquitination requires the UV-DDB complex, appears to be reversible and
    does not serve as a signal for degradation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q01831

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

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

    ENSEMBL proteins: 
     ENSP00000285021   ENSP00000424548   ENSP00000423867   ENSP00000404002  
    Reactome Protein details: Q01831
    Human Recombinant Protein Products for XPC: 
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    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 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA18682493
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA18682493
    GO:0071942XPC complex IDA11279143

    XPC for ontologies           About GeneDecksing



    XPC Antibody Products: 
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    Novus Biologicals XPC Antibodies
    Abcam antibodies for XPC
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    LSBio Antibodies in human, mouse, rat for XPC 

    Assay Products for XPC: 
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    Cloud-Clone Corp. ELISAs for XPC 
    Cloud-Clone Corp. CLIAs for XPC


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR018026 DNA_repair_Rad4_subgr
     IPR018328 Rad4_beta-hairpin_dom3
     IPR018327 Rad4_beta-hairpin_dom2
     IPR004583 DNA_repair_Rad4
     IPR018326 Rad4_beta-hairpin_dom1

    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


    XPC 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: 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): 5/6 molecular function terms (GO ID links to tree view) (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
         
    XPC for ontologies           About GeneDecksing


    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  homeostasis/metabolism  integument 
     mortality/aging  nervous system  tumorigenesis  vision/eye 

    XPC for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for XPC 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat XPC
    8/9 QIAGEN miScript miRNA 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:
        
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    OriGene RNAi products in human, mouse, rat for XPC
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    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of XPC

    Clone
    Products:
         
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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
    Sirion Biotech Customized lentivirus for stable overexpression of XPC 
                         Customized lentivirus expression plasmids for stable overexpression of XPC 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for XPC
    Search LifeMap BioReagents cell lines for XPC
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XPC


    (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 XPC About   (see all 7)                                                                                              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
    3DNA Damage
    DNA Damage0.32
    Cell Cycle / Checkpoint Control0.32
    4Transcription P53 signaling pathway
    Transcription P53 signaling pathway0.98
    5DNA damage Role of Brca1 and Brca2 in DNA repair
    DNA damage Role of Brca1 and Brca2 in DNA repair1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for XPC
        Transcription P53 signaling pathway
    DNA damage Role of Brca1 and Brca2 in DNA repair

    2 Downloadable PowerPoint Slides of QIAGEN 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


    5/6        Reactome Pathways for XPC (see all 6)
        DNA Repair
    DNA Damage Recognition in GG-NER
    Global Genomic NER (GG-NER)
    Nucleotide Excision Repair
    Formation of incision complex in GG-NER


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


    XPC for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for XPC

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

    5/45 Interacting proteins for XPC (Q018311, 2, 3 ENSP000002850214) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    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
    ERCC3P194471, 3, ENSP000002853984EBI-372610,EBI-1183307 I2D: score=2 STRING: ENSP00000285398
    GTF2H1P327801, 3, ENSP000002659634EBI-372610,EBI-715539 I2D: score=2 STRING: ENSP00000265963
    ERCC4Q928892, 3, ENSP000003105204MINT-7263772 I2D: score=1 STRING: ENSP00000310520
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000075cell cycle checkpoint ----
    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--

    XPC 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

    XPC for compounds           About GeneDecksing

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

    Browse Tocris compounds for XPC

    10/13 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  

    Search CenterWatch for drugs/clinical trials and news about XPC

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

    Unigene Clusters for XPC:

    Xeroderma pigmentosum, complementation group C
    Hs.475538  [show with all ESTs], Hs.739296  [show with all ESTs]
    Unigene Representative Sequences: NM_004628, DA957319
    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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    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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    Clone
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    OriGene ORF clones in mouse, rat for XPC
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    GenScript: all cDNA clones in your preferred vector (see all 2): XPC (NM_004628)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for XPC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat XPC
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat XPC

    Additional mRNA sequence: EU530533.1 

    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 

    24/238 AceView cDNA sequences (see all 238):

    BX957075 BE221715 BM827376 AU130155 CA748472 BU631737 AI091587 AI983317 
    AU120699 CA435788 CD619031 CF129648 BU506961 BE278952 AU125870 BQ892451 
    AL710884 CR615074 CB269927 BF591481 BE766460 CF528524 AU130697 BX951271 

    GeneLoc Exon Structure

    5/8 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™, 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

    XPC expression in normal human tissues (normalized intensities)      XPC embryonic expression: see
    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 
     5/34 selected tissues (see all 34) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   

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

    SOURCE GeneReport for Unigene clusters: Hs.475538 Hs.739296
        SABiosciences Expression via Pathway-Focused 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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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for XPC gene from 10/19 species (see all 19)    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 79.34(n)1
    75.38(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 63.09(n)
    58.95(a)
      416039  XM_414379.3  XP_414379.3 
    lizard
    (Anolis carolinensis)
    Reptilia XPC6
    xeroderma pigmentosum, complementation group C
    54(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 less
    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 Rad23p) during nucleotide excision repair; subunit of Nuclear Excision Repair Factor 2 (NEF2); also involved, with Rad23p, in turnover of ubiquitylated proteins less   --   5(502894-500630) 856909  NP_011089.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RAD41 xeroderma pigmentosum group C-complementing protein less 44.05(n)
    33(a)
      831525  NM_121669.2  NP_197166.2 
    rice
    (Oryza sativa)
    Liliopsida Os08g04275001 hypothetical protein 43.89(n)
    31.4(a)
      4345619  NM_001068378.1  NP_001061843.1 


    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
      --

    (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

    10/929 SNPs in XPC are shown (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
    ----------
    VAR_0640394
    Xeroderma pigmentosum complementation group C (XP-C)4--see VAR_0640392 W S mis40--------
    rs747373581,2,4
    C,FXeroderma pigmentosum complementation group C (XP-C)4 pathogenic114135979(+) TGGAAA/C/G/
            
    GTTTC
    5 H P mis11WA 118
    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
    VAR_0188954
    ----see VAR_0188952 L F mis40--------
    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

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/74 diseases for XPC (see all 74):    About MalaCards
    xeroderma pigmentosum    xeroderma pigmentosum, group c    xpc-related xeroderma pigmentosum    radiation induced cancer
    xeroderma pigmentosum, group d    multiple cranial nerve palsy    li-fraumeni syndrome    cranial nerve palsy
    skin cancer    xeroderma pigmentosum, group a    mutagen sensitivity    barrett's adenocarcinoma
    acoustic neuroma    neuroma    autosomal recessive disease    breast disease
    stomach cancer    follicular lymphoma    testicular cancer    squamous cell carcinoma of the head and neck

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

    XPC for disorders           About GeneDecksing

    10/26 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

    PubMed articles for XPC gene, integrated from 9 sources (see all 418):
    (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. (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. (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. (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. (2006)
    5. Modulation of DNA damage/DNA repair capacity by XPC polymorphisms. (PubMed id 17923445)1, 4, 9 Zhu Y....Gu J. (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. (2008)
    7. Genotypes, haplotypes and diplotypes of XPC and risk of bladder cancer. (PubMed id 17052994)1, 4, 9 Zhu Y....Wu X. (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. (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. (2005)
    10. Two-stage dynamic DNA quality check by xeroderma pigm entosum group C protein. (PubMed id 19609301)1, 2, 9 Camenisch U....Naegeli H. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 7508 HGNC: 12816 AceView: XPC Ensembl:ENSG00000154767 euGenes: HUgn7508
    ECgene: XPC Kegg: 7508 H-InvDB: XPC

    (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 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/sites/GeneTests/lab/gene/XPC
    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.)
    About This Section
    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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