Excision repair cross-complementing rodent repair deficiency, complementation group 6

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• ATP binding Source: MGI
• chromatin binding Source: MGI
• DNA binding Source: MGI
• DNA-dependent ATPase activity Source: MGI
• protein-containing complex binding Source: MGI
• protein C-terminus binding Source: MGI
• protein N-terminus binding Source: MGI
• protein tyrosine kinase activator activity Source: MGI
• sequence-specific DNA binding Source: MGI

GO - Biological processⁱ

• activation of JNKK activity Source: MGI <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • "Late activation of stress kinases (SAPK/JNK) by genotoxins requires the DNA repair proteins DNA-PKcs and CSB."
    Fritz G., Kaina B.
    Mol. Biol. Cell 17:851-861(2006) [PubMed] [Europe PMC] [Abstract]
• activation of JUN kinase activity Source: MGIInferred from mutant phenotypeⁱ
  • "Late activation of stress kinases (SAPK/JNK) by genotoxins requires the DNA repair proteins DNA-PKcs and CSB."
    Fritz G., Kaina B.
    Mol. Biol. Cell 17:851-861(2006) [PubMed] [Europe PMC] [Abstract]
• base-excision repair Source: MGI
• cellular response to DNA damage stimulus Source: MGIInferred from mutant phenotypeⁱ
  • "DMBA-induced toxic and mutagenic responses vary dramatically between NER-deficient Xpa, Xpc and Csb mice."
    Wijnhoven S.W., Kool H.J., Mullenders L.H., Slater R., van Zeeland A.A., Vrieling H.
    Carcinogenesis 22:1099-1106(2001) [PubMed] [Europe PMC] [Abstract]
  • "The involvement of key DNA repair pathways in the formation of chromosome rearrangements in embryonic stem cells."
    Griffin C., Waard H.d., Deans B., Thacker J.
    DNA Repair (Amst.) 4:1019-1027(2005) [PubMed] [Europe PMC] [Abstract]
• DNA repair Source: MGIInferred from mutant phenotypeⁱ
  • "Potentiation of endogenous fibrinolysis and rescue from lung ischemia/reperfusion injury in interleukin (IL)-10-reconstituted IL-10 null mice."
    Okada K., Fujita T., Minamoto K., Liao H., Naka Y., Pinsky D.J.
    J. Biol. Chem. 275:21468-21476(2000) [PubMed] [Europe PMC] [Abstract]
• intrinsic apoptotic signaling pathway in response to DNA damage Source: MGIInferred from mutant phenotypeⁱ
  • "Differential role of transcription-coupled repair in UVB-induced G2 arrest and apoptosis in mouse epidermis."
    van Oosten M., Rebel H., Friedberg E.C., van Steeg H., van der Horst G.T., van Kranen H.J., Westerman A., van Zeeland A.A., Mullenders L.H., de Gruijl F.R.
    Proc. Natl. Acad. Sci. U.S.A. 97:11268-11273(2000) [PubMed] [Europe PMC] [Abstract]
• multicellular organism growth Source: MGI <p>Inferred from Genetic Interaction</p> <p>Used to describe “traditional” genetic interactions such as suppressors and synthetic lethals as well as other techniques such as functional complementation, rescue experiments, or inferences about a gene drawn from the phenotype of a mutation in a different gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#igi">GO evidence code guide</a></p> Inferred from genetic interactionⁱ
  • "Defective transcription initiation causes postnatal growth failure in a mouse model of nucleotide excision repair (NER) progeria."
    Kamileri I., Karakasilioti I., Sideri A., Kosteas T., Tatarakis A., Talianidis I., Garinis G.A.
    Proc. Natl. Acad. Sci. U.S.A. 109:2995-3000(2012) [PubMed] [Europe PMC] [Abstract]
• photoreceptor cell maintenance Source: MGIInferred from mutant phenotypeⁱ
  • "Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome."
    Gorgels T.G., van der Pluijm I., Brandt R.M., Garinis G.A., van Steeg H., van den Aardweg G., Jansen G.H., Ruijter J.M., Bergen A.A., van Norren D., Hoeijmakers J.H., van der Horst G.T.
    Mol. Cell. Biol. 27:1433-1441(2007) [PubMed] [Europe PMC] [Abstract]
• positive regulation of defense response to virus by host Source: MGI
• positive regulation of DNA repair Source: MGI
• positive regulation of DNA-templated transcription, elongation Source: MGI
• positive regulation of gene expression Source: MGI
• positive regulation of peptidyl-serine phosphorylation of STAT protein Source: MGI
• pyrimidine dimer repair Source: MGIInferred from mutant phenotypeⁱ
  • "Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition."
    van der Horst G.T., van Steeg H., Berg R.J., van Gool A.J., de Wit J., Weeda G., Morreau H., Beems R.B., van Kreijl C.F., de Gruijl F.R., Bootsma D., Hoeijmakers J.H.
    Cell 89:425-435(1997) [PubMed] [Europe PMC] [Abstract]
• regulation of DNA-templated transcription, elongation Source: MGI
• response to gamma radiation Source: MGIInferred from mutant phenotypeⁱ
  • "Different effects of CSA and CSB deficiency on sensitivity to oxidative DNA damage."
    de Waard H., de Wit J., Andressoo J.O., van Oostrom C.T., Riis B., Weimann A., Poulsen H.E., van Steeg H., Hoeijmakers J.H., van der Horst G.T.
    Mol. Cell. Biol. 24:7941-7948(2004) [PubMed] [Europe PMC] [Abstract]
• response to oxidative stress Source: MGIInferred from mutant phenotypeⁱ
  • "Cell type-specific hypersensitivity to oxidative damage in CSB and XPA mice."
    de Waard H., de Wit J., Gorgels T.G., van den Aardweg G., Andressoo J.O., Vermeij M., van Steeg H., Hoeijmakers J.H., van der Horst G.T.
    DNA Repair (Amst.) 2:13-25(2003) [PubMed] [Europe PMC] [Abstract]
• response to superoxide Source: MGIInferred from mutant phenotypeⁱ
  • "Different effects of CSA and CSB deficiency on sensitivity to oxidative DNA damage."
    de Waard H., de Wit J., Andressoo J.O., van Oostrom C.T., Riis B., Weimann A., Poulsen H.E., van Steeg H., Hoeijmakers J.H., van der Horst G.T.
    Mol. Cell. Biol. 24:7941-7948(2004) [PubMed] [Europe PMC] [Abstract]
• response to toxic substance Source: MGIInferred from mutant phenotypeⁱ
  • "DMBA-induced toxic and mutagenic responses vary dramatically between NER-deficient Xpa, Xpc and Csb mice."
    Wijnhoven S.W., Kool H.J., Mullenders L.H., Slater R., van Zeeland A.A., Vrieling H.
    Carcinogenesis 22:1099-1106(2001) [PubMed] [Europe PMC] [Abstract]
• response to UV Source: MGIInferred from mutant phenotypeⁱ
  • "Transcription-coupled and global genome repair differentially influence UV-B-induced acute skin effects and systemic immunosuppression."
    Garssen J., van Steeg H., de Gruijl F., de Boer J., van der Horst G.T., van Kranen H., van Loveren H., van Dijk M., Fluitman A., Weeda G., Hoeijmakers J.H.
    J. Immunol. 164:6199-6205(2000) [PubMed] [Europe PMC] [Abstract]
  • "Different effects of CSA and CSB deficiency on sensitivity to oxidative DNA damage."
    de Waard H., de Wit J., Andressoo J.O., van Oostrom C.T., Riis B., Weimann A., Poulsen H.E., van Steeg H., Hoeijmakers J.H., van der Horst G.T.
    Mol. Cell. Biol. 24:7941-7948(2004) [PubMed] [Europe PMC] [Abstract]
• response to UV-B Source: MGIInferred from mutant phenotypeⁱ
  • "Impact of global genome repair versus transcription-coupled repair on ultraviolet carcinogenesis in hairless mice."
    Berg R.J., Rebel H., van der Horst G.T., van Kranen H.J., Mullenders L.H., van Vloten W.A., de Gruijl F.R.
    Cancer Res. 60:2858-2863(2000) [PubMed] [Europe PMC] [Abstract]
  • "Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome."
    Gorgels T.G., van der Pluijm I., Brandt R.M., Garinis G.A., van Steeg H., van den Aardweg G., Jansen G.H., Ruijter J.M., Bergen A.A., van Norren D., Hoeijmakers J.H., van der Horst G.T.
    Mol. Cell. Biol. 27:1433-1441(2007) [PubMed] [Europe PMC] [Abstract]
• response to X-ray Source: MGIInferred from mutant phenotypeⁱ
  • "The involvement of key DNA repair pathways in the formation of chromosome rearrangements in embryonic stem cells."
    Griffin C., Waard H.d., Deans B., Thacker J.
    DNA Repair (Amst.) 4:1019-1027(2005) [PubMed] [Europe PMC] [Abstract]
  • "Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome."
    Gorgels T.G., van der Pluijm I., Brandt R.M., Garinis G.A., van Steeg H., van den Aardweg G., Jansen G.H., Ruijter J.M., Bergen A.A., van Norren D., Hoeijmakers J.H., van der Horst G.T.
    Mol. Cell. Biol. 27:1433-1441(2007) [PubMed] [Europe PMC] [Abstract]
• transcription-coupled nucleotide-excision repair Source: MGIInferred from mutant phenotypeⁱ
  • "Cell type-specific hypersensitivity to oxidative damage in CSB and XPA mice."
    de Waard H., de Wit J., Gorgels T.G., van den Aardweg G., Andressoo J.O., Vermeij M., van Steeg H., Hoeijmakers J.H., van der Horst G.T.
    DNA Repair (Amst.) 2:13-25(2003) [PubMed] [Europe PMC] [Abstract]
  • "Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition."
    van der Horst G.T., van Steeg H., Berg R.J., van Gool A.J., de Wit J., Weeda G., Morreau H., Beems R.B., van Kreijl C.F., de Gruijl F.R., Bootsma D., Hoeijmakers J.H.
    Cell 89:425-435(1997) [PubMed] [Europe PMC] [Abstract]
• transcription elongation from RNA polymerase I promoter Source: MGIInferred from mutant phenotypeⁱ
  • "Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing."
    Nonnekens J., Perez-Fernandez J., Theil A.F., Gadal O., Bonnart C., Giglia-Mari G.
    Hum. Mol. Genet. 22:2881-2893(2013) [PubMed] [Europe PMC] [Abstract]

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

GO - Molecular functionⁱ

• protein C-terminus binding Source: MGI
• protein N-terminus binding Source: MGI

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Domains and Repeats

Coiled coil

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)ⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

        10         20         30         40         50
MFHEEVPNST HPQEQDCLPS QHANAYKDMP VGQENGGVSE AGECLSSTSC 
        60         70         80         90        100
EYGPSTSAEA CVLAATRRGP TLLHIDRHQI PAVEPSAQAL ELQGLGVDVY 
       110        120        130        140        150
DQAVLEQGVL QQVDSAMHEA SCVAQLADAE KEYQSVLDDL MSCTTSLRQI 
       160        170        180        190        200
NKIIEQLSPQ AASNRDINRK LDSVKRQKYN KEQQLKKITA KQKRLQAILG 
       210        220        230        240        250
GAGVQVELDH ASLEEDDAEP GPSCLGSMLM PAQETAWEEL IRTGQMTPFG 
       260        270        280        290        300
TPAPQKQEKK PRKIMLNEAS GFEKYLAEQA QLSFERKKQA ATKRTAKKAI 
       310        320        330        340        350
VISESSRAAI ETKADQRSQV LSQTDKRLKK HSRKLQRRAL QFQGKVGLPS 
       360        370        380        390        400
GKKPLEPEVR PEAEGDTEGE ESGSSPTDGE EEEEQEEEEG VASLSSDDVS 
       410        420        430        440        450
YELKPLRKRQ KYQKKVPVQE IDDDFFPSSE EEDEAMEGRG GGRKVARRQD 
       460        470        480        490        500
DGDEDYYKQR LRRWNRLRLQ DKEKRLKLED DSEESDAEFD EGFKVPGFLF 
       510        520        530        540        550
KKLFKYQQTG VRWLWELHCQ QAGGILGDEM GLGKTIQIIA FLAGLSYSKI 
       560        570        580        590        600
RTRGSNYRFE GLGPTIIVCP TTVMHQWVKE FHTWWPPFRV AVLHETGSYT 
       610        620        630        640        650
HKKERLIRDI VYCHGVLITS YSYIRLMQDD ISRHDWHYVI LDEGHKIRNP 
       660        670        680        690        700
NAAVTLACKQ FRTPHRIILS GSPMQNNLRE LWSLFDFIFP GKLGTLPVFM 
       710        720        730        740        750
EQFSVPITMG GYSNASPVQV KTAYKCACVL RDTINPYLLR RMKSDVKMSL 
       760        770        780        790        800
SLPDKNEQVL FCRLTDEQHK VYQNFIDSKA VYRILNGENQ IFSGLVALRK 
       810        820        830        840        850
ICNHPDLFSG GPKNASGPPE DELEEEQFGH WRRSGKMIVV ESLLKIWHRQ 
       860        870        880        890        900
GQRVLLFSQS RQMLHILEVF LRAHKYSYLK MDGTTTIASR QPLITKYNED 
       910        920        930        940        950
TSIFVFLLTT RVGGLGVNLT GANRVIIYDP DWNPSTDTQA RERAWRIGQK 
       960        970        980        990       1000
KQVTVYRLLT AGTIEEKIYH RQIFKQFLTN RVLKDPKQRR FFKSNDLYEL 
      1010       1020       1030       1040       1050
FTLTSPDASQ GTETSAIFAG TGSSIQTPKC QLKKRTSTVL GTDPKCKKPP 
      1060       1070       1080       1090       1100
VSDTPANAAT LIGEKPKAAG ATGRSVTSGE SGPFKGDHDT NGNRASSVAF 
      1110       1120       1130       1140       1150
GEETDAGSTL EHLSVMSGDG KHSDSPTVDH TSRPPVEAST SEKQGSSYAG 
      1160       1170       1180       1190       1200
ARCQAQTEPV PMSEQMEGQF SKYKSKRKHD ASEEETTEKR PQPKQKAKNS 
      1210       1220       1230       1240       1250
KHCRDAKFEG TRVPHLVKKR RYRQQTSEQE GGAKDRSSDD YVLEKLFKKS 
      1260       1270       1280       1290       1300
VGVHSVVRHD AIIDGSSPDY VLVEAEANRV AQDALKALRL SRQQCLGAAS 
      1310       1320       1330       1340       1350
GVPTWTGHRG ISGAPTGVKN RFGQKRDSSL PVQHPSSLTE KTQNNMKKEG 
      1360       1370       1380       1390       1400
KAHTPEHFSG KEDGASVSGA PSSSSLLARM RARNHMILPE RLESDSEHLA 
      1410       1420       1430       1440       1450
EAAAVPPCGT EHDDLLVDMR NFIAFQAQVD GQASTQEILQ EFESKLSVAQ 
      1460       1470       1480 
SCVFRELLRN LCNFHRTPGG EGIWKLKPEY C                     

Sequence databases

Genome annotation databases

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 100% Identity
• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ