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ERCC3 Gene

protein-coding   GIFtS: 68
GCID: GC02M128014

Excision Repair Cross-Complementation Group 3

(Previous names: excision repair cross-complementing rodent repair deficiency,...)
  See ERCC3-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
Excision Repair Cross-Complementation Group 31 2     Xeroderma Pigmentosum Group B Complementing1
XPB2 3 5     BTF22
Excision Repair Cross-Complementing Rodent Repair Deficiency,
Complementation Group 31 2
     GTF2H2
Basic Transcription Factor 2 89 KDa Subunit2 3     RAD252
Xeroderma Pigmentosum Group B-Complementing Protein2 3     TFIIH2
BTF2 P892 3     TFIIH Basal Transcription Factor Complex Helicase XPB Subunit2
DNA Excision Repair Protein ERCC-32 3     Xeroderma Pigmentosum, Complementation Group B2
DNA Repair Protein Complementing XP-B Cells2 3     EC 3.6.4.123
TFIIH 89 KDa Subunit2 3     XPBC3
TFIIH Basal Transcription Factor Complex 89 KDa Subunit2 3     EC 3.6.18
TFIIH P892 3     

External Ids:    HGNC: 34351   Entrez Gene: 20712   Ensembl: ENSG000001631617   OMIM: 1335105   UniProtKB: P194473   

Export aliases for ERCC3 gene to outside databases

Previous GC identifers: GC02M125313 GC02M125941 GC02M127919 GC02M128108 GC02M127731 GC02M120322


(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 ERCC3 Gene:
ERCC3 is an ATP-dependent DNA helicase that functions in nucleotide excision repair and complements xeroderma
pigmentosum group B mutations. It also is the 89 kDa subunit of basal transcription factor 2 (TFIIH) and thus
functions in class II transcription. (provided by RefSeq, Jul 2008)

GeneCards Summary for ERCC3 Gene:
ERCC3 (excision repair cross-complementation group 3) is a protein-coding gene. Diseases associated with ERCC3 include ercc3-related xeroderma pigmentosum, and photosensitive trichothiodystrophy. GO annotations related to this gene include GTP binding and protein kinase activity.

UniProtKB/Swiss-Prot: ERCC3_HUMAN, P19447
Function: ATP-dependent 3'-5' DNA helicase, component of the core-TFIIH basal transcription factor, involved in
nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II.
Acts by opening DNA either around the RNA transcription start site or the DNA damage

Gene Wiki entry for ERCC3 (XPB) 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_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ERCC3 gene promoter:
         E2F-4   E2F-3a   Spz1   E2F-5   p53   E2F-2   CREB   E2F-1   E2F   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidERCC3 promoter sequence
   Search Chromatin IP Primers for ERCC3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ERCC3


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

Entrez Gene cytogenetic band: 2q21   Ensembl cytogenetic band:  2q14.3   HGNC cytogenetic band: 2q21

ERCC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERCC3 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M128014:  view genomic region     (about GC identifiers)

Start:
128,014,866 bp from pter      End:
128,051,752 bp from pter
Size:
36,887 bases      Orientation:
minus strand

(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: ERCC3_HUMAN, P19447 (See protein sequence)
Recommended Name: TFIIH basal transcription factor complex helicase XPB subunit  
Size: 782 amino acids; 89278 Da
Subunit: One of the 6 subunits forming the core-TFIIH basal transcription factor which associates with the CAK
complex composed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor. Interacts with
PUF60. Interacts with ATF7IP. Interacts with Epstein-Barr virus EBNA2
1 PDB 3D structure from and Proteopedia for ERCC3:
4ERN (3D)    
Secondary accessions: Q53QM0

Explore the universe of human proteins at neXtProt for ERCC3: NX_P19447

Explore proteomics data for ERCC3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys222, Lys601
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ERCC3 (P19447) (see all 29)
     TELITET  EYDFRND  QFKMWST  VSVEQWK 


    See ERCC3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000113.1  
    ENSEMBL proteins: 
     ENSP00000415335   ENSP00000285398   ENSP00000390888   ENSP00000408901   ENSP00000444796  
    Reactome Protein details: P19447

    ERCC3 Human Recombinant Protein Products:

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    Novus Biologicals ERCC3 Proteins
    Novus Biologicals ERCC3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for ERCC3 

    ERCC3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    LSBio Antibodies in human, mouse, rat for ERCC3

    ERCC3 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for ERCC3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TFIIH: General transcription factor IIH complex subunits
    GTF: General transcription factors

    5 InterPro protein domains:
     IPR006935 Helicase/UvrB_dom
     IPR001161 Helicase_Ercc3
     IPR027417 P-loop_NTPase
     IPR014001 Helicase_ATP-bd
     IPR001650 Helicase_C

    Graphical View of Domain Structure for InterPro Entry P19447

    ProtoNet protein and cluster: P19447

    1 Blocks protein domain: IPB001161 Xeroderma pigmentosum group B protein signature

    UniProtKB/Swiss-Prot: ERCC3_HUMAN, P19447
    Similarity: Belongs to the helicase family. RAD25/XPB subfamily
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    Find genes that share domains with ERCC3           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: ERCC3_HUMAN, P19447
    Function: ATP-dependent 3'-5' DNA helicase, component of the core-TFIIH basal transcription factor, involved in
    nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II.
    Acts by opening DNA either around the RNA transcription start site or the DNA damage
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Genatlas biochemistry entry for ERCC3:
    excision repair cross-complementing rodent repair defect in CHO cells (DNA repair helicase),complementation group
    3,yeast RAD25 homolog,D discoidum REPB homolog,with mutations decreasing GTF2H activity in XPB patients

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121

         Gene Ontology (GO): Selected molecular function terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding TAS8663148
    GO:0003684damaged DNA binding NAS2167179
    GO:0004003ATP-dependent DNA helicase activity IEA--
    GO:0004386helicase activity ----
         
    Find genes that share ontologies with ERCC3           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for ERCC3:
     Decreased Tat-dependent transc  Decreased p24 protein expressi  Increased cell death HMECs cel 

         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ercc3):
     behavior/neurological  cellular  craniofacial  endocrine/exocrine gland  growth/size/body 
     integument  mortality/aging  muscle  reproductive system  skeleton 
     tumorigenesis 

    Find genes that share phenotypes with ERCC3           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ERCC3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ERCC3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ERCC3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ERCC3

    miRNA
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    miRTarBase miRNAs that target ERCC3:
    hsa-mir-215-5p (MIRT024493), hsa-mir-186-5p (MIRT045169), hsa-mir-192-5p (MIRT004849)

    Block miRNA regulation of human, mouse, rat ERCC3 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate ERCC3:
    hsa-let-7f-2*
    SwitchGear 3'UTR luciferase reporter plasmidERCC3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ERCC3

    Gene Editing
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    Addgene plasmids for ERCC3 

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    eBioscience FlowRNA Probe Sets ( VA1-12369) for ERCC3 


    (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
    ERCC3_HUMAN, P19447: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000441SSL2-core TFIIH complex IEA--
    GO:0005634nucleus TAS8663148
    GO:0005654nucleoplasm TAS--
    GO:0005675holo TFIIH complex TAS7663514
    GO:0005730NOT nucleolus IDA--

    Find genes that share ontologies with ERCC3           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 ERCC3 About   (see all 14)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Formation of RNA Pol II elongation complex
    mRNA Capping0.93
    RNA Polymerase II Pre-transcription Events0.73
    RNA Pol II CTD phosphorylation and interaction with CE0.93
    Transcription of the HIV genome0.71
    RNA Pol II CTD phosphorylation and interaction with CE0.93
    RNA Polymerase II Transcription Initiation And Promoter Clearance0.67
    Formation of the Early Elongation Complex0.77
    RNA Polymerase II Transcription Initiation0.67
    2Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.69
    Dual incision reaction in GG-NER0.62
    Nucleotide excision repair0.69
    Formation of incision complex in GG-NER0.62
    3DNA Repair
    Transcription-coupled NER (TC-NER)0.90
    Formation of transcription-coupled NER (TC-NER) repair complex0.65
    Nucleotide Excision Repair0.90
    DNA Repair0.45
    Dual incision reaction in TC-NER0.65
    4RNA Polymerase I Promoter Opening
    RNA Polymerase I Transcription0.78
    RNA Polymerase I Promoter Clearance0.78
    RNA Polymerase I Chain Elongation0.78
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.73
    5HIV Life Cycle
    HIV Life Cycle0.91
    HIV Infection0.62
    Late Phase of HIV Life Cycle0.91


    Find genes that share SuperPaths with ERCC3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ERCC3
        DNA Repair Mechanisms

    3 Cell Signaling Technology (CST) Pathways for ERCC3
        Chromatin Regulation / Acetylation
    Cell Cycle / Checkpoint Control
    DNA Damage

    2 GeneGo (Thomson Reuters) Pathways for ERCC3
        Transcription P53 signaling pathway
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes

    1 BioSystems Pathway for ERCC3
        Eukaryotic Transcription Initiation

    Selected Reactome Pathways for ERCC3 (see all 27)
        Formation of RNA Pol II elongation complex
    Tat-mediated elongation of the HIV-1 transcript
    RNA Polymerase I Promoter Escape
    NoRC negatively regulates rRNA expression
    RNA Polymerase II Transcription Initiation And Promoter Clearance


    2 Kegg Pathways  (Kegg details for ERCC3):
        Basal transcription factors
    Nucleotide excision repair

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERCC3: 
              Cancer PathwayFinder in human mouse rat
              DNA Repair in human mouse rat
              Cancer Drug Resistance in human mouse rat
              Apoptosis 384HT in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ERCC3

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

    Selected Interacting proteins for ERCC3 (P194471, 2, 3 ENSP000002853984) via UniProtKB, MINT, STRING, and/or I2D (see all 191)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARP102752, 3, ENSP000003638224MINT-8142873 I2D: score=1 STRING: ENSP00000363822
    GTF2H4Q927593, ENSP000002598954I2D: score=3 STRING: ENSP00000259895
    ENSG00000233149Q927593, ENSP000003954974I2D: score=3 STRING: ENSP00000395497
    ENSG00000236895Q927593, ENSP000003962514I2D: score=3 STRING: ENSP00000396251
    ENSG00000221974Q927593I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 31):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000717nucleotide-excision repair, DNA duplex unwinding IMP17466626
    GO:0000718nucleotide-excision repair, DNA damage removal TAS--
    GO:0001666response to hypoxia IEA--
    GO:0006200ATP catabolic process ----
    GO:0006265DNA topological change IMP8663148

    Find genes that share ontologies with ERCC3           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 ERCC3

    6 Novoseek inferred chemical compound relationships for ERCC3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cpds 61.1 3 18676829 (2), 11705987 (1)
    phosphodiester 53.1 8 9256425 (2), 8631733 (2), 9405375 (1), 10872452 (1) (see all 5)
    cisplatin 28.5 9 9784390 (4), 8647649 (1)
    melphalan 11.3 1 8647649 (1)
    atp 0 14 8631733 (4), 19199647 (3), 9698541 (1), 16246722 (1) (see all 5)
    arginine 0 2 8196650 (1)



    Find genes that share compounds with ERCC3           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 ERCC3 gene: 
    NM_000122.1  

    Unigene Cluster for ERCC3:

    Excision repair cross-complementing rodent repair deficiency, complementation group 3
    Hs.469872  [show with all ESTs]
    Unigene Representative Sequence: AK127469
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000426778(uc002tof.1) ENST00000285398(uc002toe.1 uc002toh.1 uc010yzh.1)
    ENST00000491292 ENST00000445889 ENST00000494464(uc010flx.1) ENST00000456257
    ENST00000460485 ENST00000462306(uc010fly.3) ENST00000490062 ENST00000493187(uc002tog.1)

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate ERCC3:
    hsa-let-7f-2*
    SwitchGear 3'UTR luciferase reporter plasmidERCC3 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: ERCC3 (NM_000122)
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    eBioscience FlowRNA Probe Sets ( VA1-12369) for ERCC3 

    Additional mRNA sequence: 

    AK091500.1 AK095557.1 AK126697.1 AK127469.1 AK222465.1 AK290474.1 AK300250.1 AK307338.1 
    AK309405.1 BC008820.2 M31899.1 

    20 DOTS entries:

    DT.100798024  DT.316961  DT.92440532  DT.100798012  DT.100697311  DT.121016666  DT.100798025  DT.121016641 
    DT.100798014  DT.100720316  DT.100798023  DT.121016588  DT.121016643  DT.95305911  DT.121016637  DT.95150136 
    DT.95173028  DT.97852982  DT.86850901  DT.91750167 

    Selected AceView cDNA sequences (see all 323):

    BM761907 AU131639 CB269335 CB129030 CA941431 AW275050 BG394618 BM783073 
    BM787880 BM783097 CF125280 NM_000122 CD369543 BM479922 CB114234 CO247173 
    BP358736 CD171638 CA487487 BX324539 BX345504 BM794752 BM552465 BG163529 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ERCC3 (see all 25)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ·
    SP1:                                            -     -     -     -                                               -     -     -           -     -               
    SP2:                                                                                                              -     -     -           -     -               
    SP3:                                                              -                                               -     -     -           -     -               
    SP4:                                                                                                                                                            
    SP5:                                            -     -     -     -                 -     -                       -     -     -           -     -               

    ExUns: 9c · 9d · 9e · 9f ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20 ^ 21a · 21b
    SP1:              -     -     -                                                                 -                 -           -                     
    SP2:              -     -     -                                                                 -                 -           -                     
    SP3:              -     -     -                                                                 -                 -           -                     
    SP4:                                                                                            -                 -           -                     
    SP5:              -     -     -                                                                                                                     


    ECgene alternative splicing isoforms for ERCC3

    (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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    ERCC3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACACCCGCT
    ERCC3 Expression
    About this image

    ERCC3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ERCC3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.469872
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERCC3: 
              Cancer PathwayFinder in human mouse rat
              DNA Repair in human mouse rat
              Cancer Drug Resistance in human mouse rat
              Apoptosis 384HT in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC3

    (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 eukaryotes.

    Orthologs for ERCC3 gene from Selected species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ercc31 , 5 excision repair cross-complementing rodent repair deficiency, more1, 5 87.43(n)1
    95.91(a)1
      18 (17.97 cM)5
    138721  NM_133658.11  NP_598419.11 
     322403005 
    chicken
    (Gallus gallus)
    Aves ERCC31 excision repair cross-complementing rodent repair deficiency, more 78.67(n)
    91.58(a)
      424226  NM_001006523.1  NP_001006523.1 
    lizard
    (Anolis carolinensis)
    Reptilia ERCC36
    excision repair cross-complementing rodent repair ...
    93(a)
    1 ↔ 1
    GL343344.1(816461-841080)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ085418.12   -- 83.41(n)    BJ085418.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC045400.12   -- 77.56(n)    BC045400.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta hay1 , 3 transcription initiation from Pol II
    promoter more3
    haywire1
    68(a)3
    65.41(n)1
    72.57(a)1
      3 67E53
    392021  NM_079296.41  NP_524020.21 
    worm
    (Caenorhabditis elegans)
    Secernentea Y66D12A.151 , 3 Y66D12A.151 63(a)3
    63.1(n)1
    67.24(a)1
      III(11598328-11606086)3
    1765841  NM_067086.31  NP_499487.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SSL2(YIL143C)4
    SSL21
    Component of the holoenzyme form of RNA polymerase more4
    SSL21
    57.89(n)1
    58.37(a)1
      9(83041-80510)4
    8546631, 4  NP_012123.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons XPB21 XPB2 58.14(n)
    59.8(a)
      834138  NM_123501.2  NP_568591.1 
    rice
    (Oryza sativa)
    Liliopsida Os.326722 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 76.01(n)    AK103297.1 


    ENSEMBL Gene Tree for ERCC3 (if available)
    TreeFam Gene Tree for ERCC3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ERCC3 gene

    Find genes that share paralogs with ERCC3           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for ERCC3
    PGOHUM00000238419 PGOHUM00000245280


    (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 ERCC3 (see all 956)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0359424
    A breast cancer sample4--see VAR_0359422 K Q mis40--------
    VAR_0081864
    Trichothiodystrophy photosensitive (TTDP)4--see VAR_0081862 T P mis40--------
    VAR_0036324
    Xeroderma pigmentosum complementation group B (XP-B)4--see VAR_0036322 F S mis40--------
    rs785082821,2
    F--120334906(+) TCAATA/CAAGGA 1 -- int11Minor allele frequency- C:0.06EA 120
    rs113833261,2
    C--120350842(+) AAAAA-/AGGTTT 1 -- int1 trp31Minor allele frequency- A:0.50NA 2
    rs1380424731,2
    --127513700(+) ACCTCA/GGACGA 1 -- int10--------
    rs22765831,2
    C,F,H--127513846(+) TCCCCA/GTTCCC 1 -- int120Minor allele frequency- G:0.45EA NS MN NA CSA WA 2851
    rs92826781,2
    F--127514016(-) TGTACA/CAGTGT 1 -- int15Minor allele frequency- C:0.01MN 404
    rs18035411,2
    C,F,H--127514075(-) AAGGTG/ATATTT 1 -- ut3115Minor allele frequency- A:0.02NS EA NA MN 1264
    rs1929141131,2
    --127514110(+) GAAATA/GACCCC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ERCC3 (128014866 - 128051752 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ERCC3: --
    Human Gene Mutation Database (HGMD): ERCC3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ERCC3
    DNA2.0 Custom Variant and Variant Library Synthesis for ERCC3

    (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: 133510   
    OMIM disorders: 610651  601675  
    UniProtKB/Swiss-Prot: ERCC3_HUMAN, P19447
  • Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651]: 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. Some XP-B patients present features of Cockayne syndrome, including cachectic
    dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining
    xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Trichothiodystrophy photosensitive (TTDP) [MIM:601675]: TTDP is an autosomal recessive disease
    characterized by sulfur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual
    development, abnormal facies and cutaneous photosensitivity correlated with a nucleotide excision repair (NER)
    defect. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane. The severity
    of the ichthyosis after the membrane is shed is variable, ranging from a mild to severe lamellar ichthyotic
    phenotype. There are no reports of skin cancer associated with TTDP. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 8 diseases for ERCC3:    
    About MalaCards
    ercc3-related xeroderma pigmentosum    photosensitive trichothiodystrophy    xeroderma pigmentosum, group b    cutaneous fibrous histiocytoma
    trichothiodystrophy, complementation group a    xeroderma pigmentosum    xeroderma pigmentosum, group c    cockayne syndrome

    3 diseases from the University of Copenhagen DISEASES database for ERCC3:
    Cockayne syndrome     Xeroderma pigmentosum     Photosensitive trichothiodystrophy

    Find genes that share disorders with ERCC3           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ERCC3 gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trichothiodystrophy 96.6 21 11062469 (1), 12221129 (1), 19008953 (1), 9422774 (1) (see all 17)
    cockayne syndrome 95.3 26 16947863 (2), 12221129 (1), 1916809 (1), 8663148 (1) (see all 22)
    xeroderma pigmentosum 94.5 63 16947863 (3), 1454518 (2), 11027286 (2), 11077043 (2) (see all 47)
    group b cockayne syndrome 80.6 1 11077043 (1)
    group a cockayne syndrome 75.5 1 9774388 (1)
    xeroderma pigmentosum, complementation group d 70.3 1 15982307 (1)
    genetic disorder 64.8 8 20429618 (3), 15354295 (1), 17156731 (1), 7613092 (1) (see all 6)
    hair disorder 54.9 1 9651581 (1)
    skin cancer 53.1 6 18470933 (2), 18817897 (1)
    skin tumor 14.7 1 9427533 (1)

    GeneTests: ERCC3
    GeneReviews: ERCC3
    Genetic Association Database (GAD): ERCC3
    Human Genome Epidemiology (HuGE) Navigator: ERCC3 (19 documents)

    Export disorders for ERCC3 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 ERCC3 gene, integrated from 10 sources (see all 304):
    (articles sorted by number of sources associating them with ERCC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. (PubMed id 8304337)1, 2, 4, 9 Vermeulen W.... Weeda G. (Am. J. Hum. Genet. 1994)
    2. RAD25 is a DNA helicase required for DNA repair and RNA polymerase II transcription. (PubMed id 8202161)1, 3, 9 Guzder S.N....Prakash S. (Nature 1994)
    3. Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB (ERCC3) in Polish population. (PubMed id 10862089)1, 2, 9 Butkiewicz D.... Chorazy M. (Hum. Mutat. 2000)
    4. Molecular cloning and biological characterization of the human excision repair gene ERCC-3. (PubMed id 2111438)1, 2, 9 Weeda G.... Hoeijmakers J.H.J. (Mol. Cell. Biol. 1990)
    5. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. (PubMed id 9012405)1, 2, 9 Weeda G.... Sarasin A. (Am. J. Hum. Genet. 1997)
    6. Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH). (PubMed id 8157004)1, 2, 9 van Vuuren A.J.... Egly J.-M. (EMBO J. 1994)
    7. Structure of the C-terminal half of human XPB helicase and the impact of the disease-causing mutation XP11BE. (PubMed id 23385459)1, 2 Hilario E.... Fan L. (Acta Crystallogr. D 2013)
    8. Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)1, 4 Monsees G.M....Han J. (Breast Cancer Res. Treat. 2011)
    9. Breast cancer risk and common single nucleotide polymorphisms in homologous recombination DNA repair pathway genes XRCC2, XRCC3, NBS1 and RAD51. (PubMed id 20004634)1, 4 Silva S.N....Gaspar J.F. (Cancer Epidemiol 2010)
    10. Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma in a pooled analysis of three studies. (PubMed id 20813000)1, 4 Shen M....Zheng T. (Br. J. Haematol. 2010)

    (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: 2071 HGNC: 3435 AceView: ERCC3 Ensembl:ENSG00000163161 euGenes: HUgn2071
    ECgene: ERCC3 Kegg: 2071 H-InvDB: ERCC3

    (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 ERCC3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ERCC3 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=ERCC3[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ercc3/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ERCC3 gene:
    Search GeneIP for patents involving ERCC3

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



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