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Search results 101 to 200 out of 209 for Xpc

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Type Details Score
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
Publication
First Author: Lynch HT
Year: 1984
Journal: Arch Dermatol
Title: Xeroderma pigmentosum. Complementation group C and malignant melanoma.
Volume: 120
Issue: 2
Pages: 175-9
GXD Expression      
Probe: MGI:7264665
Assay Type: RT-PCR
Annotation Date: 2022-04-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603912
Stage: TS12
Assay Id: MGI:7264685
Age: embryonic day 8.25
Specimen Label: WT
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:7264665
Assay Type: RT-PCR
Annotation Date: 2022-04-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603912
Stage: TS12
Assay Id: MGI:7264685
Age: embryonic day 8.25
Specimen Label: Jmjd5 delta/delta
Detected: true
Specimen Num: 2
Publication
First Author: Jaarsma D
Year: 2011
Journal: PLoS Genet
Title: Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology.
Volume: 7
Issue: 12
Pages: e1002405
Publication    
First Author: Herrmann A
Year: 1999
Journal: GenBank Submission
Title: Mus musculus tyrosine-ester sulfotransferase mRNA, complete cds
Pages: U32371
Publication
First Author: Zattra E
Year: 2009
Journal: Am J Pathol
Title: Polypodium leucotomos extract decreases UV-induced Cox-2 expression and inflammation, enhances DNA repair, and decreases mutagenesis in hairless mice.
Volume: 175
Issue: 5
Pages: 1952-61
Publication
First Author: de Boer J
Year: 1999
Journal: Biochimie
Title: Cancer from the outside, aging from the inside: mouse models to study the consequences of defective nucleotide excision repair.
Volume: 81
Issue: 1-2
Pages: 127-37
Publication
First Author: Kawasumi M
Year: 2011
Journal: Proc Natl Acad Sci U S A
Title: Protection from UV-induced skin carcinogenesis by genetic inhibition of the ataxia telangiectasia and Rad3-related (ATR) kinase.
Volume: 108
Issue: 33
Pages: 13716-21
Publication
First Author: Ishimura A
Year: 2016
Journal: Cell Tissue Res
Title: Jmjd5 functions as a regulator of p53 signaling during mouse embryogenesis.
Volume: 363
Issue: 3
Pages: 723-33
Publication      
First Author: Tian C
Year: 2019
Journal: Dev Biol
Title: TBX1 is required for normal stria vascularis and semicircular canal development.
Publication      
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
Publication      
First Author: Velocigene
Year: 2008
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals)
Publication      
First Author: Helmholtz Zentrum Muenchen GmbH
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu)
Publication
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
Publication        
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Publication
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
Publication      
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
Publication        
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
Publication        
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Publication
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
Publication        
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
Publication        
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
GO Term
Strain
Attribute String: targeted mutation, mutant stock
Publication  
First Author: van Cuijk L
Year: 2015
Journal: Nat Commun
Title: SUMO and ubiquitin-dependent XPC exchange drives nucleotide excision repair.
Volume: 6
Pages: 7499
DO Term
Publication
First Author: Inga A
Year: 2002
Journal: Oncogene
Title: A novel p53 mutational hotspot in skin tumors from UV-irradiated Xpc mutant mice alters transactivation functions.
Volume: 21
Issue: 37
Pages: 5704-15
Publication
First Author: Wijnhoven SW
Year: 2000
Journal: Oncogene
Title: Age-dependent spontaneous mutagenesis in Xpc mice defective in nucleotide excision repair.
Volume: 19
Issue: 43
Pages: 5034-7
Allele
Name: xeroderma pigmentosum, complementation group C; targeted mutation 1, Allan Bradley
Allele Type: Targeted
Attribute String: Null/knockout
Publication  
First Author: Friedberg EC
Year: 1999
Journal: Prog Exp Tumor Res
Title: Cancer predisposition in mutant mice defective in the XPC DNA repair gene.
Volume: 35
Pages: 37-52
Genotype
Symbol: Xpc/Xpc
Background: involves: 129S7/SvEvBrd * C57BL
Zygosity: hm
Has Mutant Allele: true
Interaction Experiment
Description: Recognition of DNA damage by XPC coincides with disruption of the XPC-RAD23 complex.
Allele
Name: xeroderma pigmentosum, complementation group C; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
Strain
Attribute String: coisogenic, mutant strain, endonuclease-mediated mutation
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Publication
First Author: Thompson JR
Year: 2006
Journal: J Biol Chem
Title: The structure of the human centrin 2-xeroderma pigmentosum group C protein complex.
Volume: 281
Issue: 27
Pages: 18746-52
Publication
First Author: Tourbez M
Year: 2004
Journal: J Biol Chem
Title: Calcium-dependent self-assembly of human centrin 2.
Volume: 279
Issue: 46
Pages: 47672-80
Publication
First Author: Araki M
Year: 2001
Journal: J Biol Chem
Title: Centrosome protein centrin 2/caltractin 1 is part of the xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair.
Volume: 276
Issue: 22
Pages: 18665-72
Protein Domain
Type: Family
Description: This entry includes caltractin (a calcium-binding protein found in the basal body complexes of algae such as Chlamydomonas) and centrin-2. Centrin-2 (CETN2, also known as caltractin isoform 1) is important for microtubule organization, centriole duplication and correct spindle formation. It is a calcium-binding protein with EF-hand binding sites []. It is a component of the XPC (xeroderma pigmentosum group C) and TREX-2 ((transcription and export complex 2)) complexes. The XPC complex recognizes damaged DNA which is required for global genome nucleotide excision repair []. Once XPC has interacted with unpaired bases on the undamaged DNA strand, the TFIH complex is recruited to find lesions on the opposite strand. The XPC complex is composed of XPC, RAD23B and CETN2 []. The TREX-2 complex helps dock export-competent ribonucleoprotein particles to the nuclear entrance of the nuclear pore complex []. The TREX-2 complex consists of at least ENY2, GANP, PCID2, SEM1, and either centrin CETN2 or CETN3 [].
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Domain
Type: Family
Description: All proteins in this family for which functions are known are components of a multiprotein complex used for targeting nucleotide excision repair to specific parts of the genome. Rad23 contains a ubiquitin-like domain that interacts with catalytically active proteasomes and two ubiquitin(Ub)-associated (UBA) sequences that bind Ub. Rad23 interacts with ubiquitinated cellular proteins through thesynergistic action of its UBA domains. Inhumans, Rad23 complexes with the XPC protein.
Allele
Name: xeroderma pigmentosum, complementation group C; targeted mutation 1, Errol C Friedberg
Allele Type: Targeted
Attribute String: Null/knockout
Strain
Attribute String: mutant stock, spontaneous mutation
Genotype
Symbol: Xpc/Xpc
Background: involves: 129
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Xpc/Xpc<+>
Background: involves: 129 * SKH1
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Xpc/Xpc
Background: involves: 129 * SKH1
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Xpc/Xpc
Background: involves: 129 * C57BL/6
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Mc1r/Mc1r Xpc/Xpc Tg(KRT14-Kitl)1Takk/?
Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Msh2/Msh2 Xpc/Xpc
Background: involves: 129P2/OlaHsd * SKH1
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Ercc3/Ercc3 Xpc/Xpc
Background: either: (involves: 129/Sv * 129P2/OlaHsd * C57BL/6) or (involves: 129/Sv * 129P2/OlaHsd * FVB/N)
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Ercc6/Ercc6 Xpc/Xpc
Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd
Zygosity: cx
Has Mutant Allele: true
Protein
Organism: Mus musculus/domesticus
Length: 111  
Fragment?: true
Protein Domain
Type: Homologous_superfamily
Description: The xeroderma pigmentosum C (XPC) protein has a central role in initiating global-genome NER (nucleotide excision repair) by recognising the lesion and recruiting downstream factors. This entry includes the yeast XPC orthologue Rad4 bound to DNA containing a cyclobutane pyrimidine dimer (CPD) lesion. Rad4 inserts a β-hairpin through the DNA duplex, causing the two damaged base pairs to flip out of the double helix. The expelled nucleotides of the undamaged strand are recognised by Rad4, whereas the two CPD-linked nucleotides become disordered. These findings indicate that the lesions recognised by Rad4/XPC thermodynamically destabilise the Watson-Crick double helix in a manner that facilitates the flipping-out of two base pairs [].This superfamily represents the β-hairpin domain BHD3 of the Rad4 protein, which is involved in DNA binding [].
Publication
First Author: Zhu B
Year: 2018
Journal: Nat Commun
Title: The protective role of DOT1L in UV-induced melanomagenesis.
Volume: 9
Issue: 1
Pages: 259
Publication
First Author: Liu L
Year: 2009
Journal: Mol Cell
Title: CUL4A abrogation augments DNA damage response and protection against skin carcinogenesis.
Volume: 34
Issue: 4
Pages: 451-60
Publication
First Author: Ming M
Year: 2010
Journal: Proc Natl Acad Sci U S A
Title: Regulation of global genome nucleotide excision repair by SIRT1 through xeroderma pigmentosum C.
Volume: 107
Issue: 52
Pages: 22623-8
Publication
First Author: Min JH
Year: 2007
Journal: Nature
Title: Recognition of DNA damage by the Rad4 nucleotide excision repair protein.
Volume: 449
Issue: 7162
Pages: 570-5
Protein Domain
Type: Family
Description: Mutations in the nucleotide excision repair (NER) pathway can cause the xeroderma pigmentosum skin cancer predisposition syndrome. NER lesions are limited to one DNA strand, but otherwise they are chemically and structurally diverse, being caused by a wide variety of genotoxic chemicals and ultraviolet radiation. The xeroderma pigmentosum C (XPC) protein has a central role in initiating global-genome NER by recognising the lesion and recruiting downstream factors. In NER in eukaryotes, DNA is incised on both sides of the lesion, resulting in the removal of a fragment ~25-30 nucleotides long. This is followed by repair synthesis and ligation. This reaction, in yeast, requires the damage binding factors Rad14, RPA, and the Rad4-Rad23 complex, the transcription factor TFIIH which contains the two DNA helicases Rad3 and Rad25, essential for creating a bubble structure, and the two endonucleases, the Rad1-Rad10 complex and Rad2, which incise the damaged DNA strand on the 5'- and 3'-side of the lesion, respectively [].The crystal structure of the yeast XPC orthologue Rad4 bound to DNA containing a cyclobutane pyrimidine dimer lesion has been determined. The structure shows that Rad4 inserts a β-hairpin through the DNA duplex, causing the two damaged base pairs to flip out of the double helix. The expelled nucleotides of the undamaged strand are recognised by Rad4, whereas the two cyclobutane pyrimidine dimer-linked nucleotides become disordered. This indicates that the lesions recognised by Rad4/XPC thermodynamically destabilise the double helix in a manner that facilitates the flipping-out of two base pairs []. Homologues of all the above mentioned yeast genes, except for RAD7, RAD16, and MMS19, have been identified in humans, and mutations in these human genesaffect NER in a similar fashion as they do in yeast, with the exception of XPC, the human counterpart of yeast RAD4. Deletion of RAD4 causes the same high levelof UV sensitivity as do mutations in the other class 1 genes, and rad4 mutants are completely defective in incision. By contrast, XPC is required forthe repair of nontranscribed regions of the genome but not for the repair of the transcribed DNA strand.
Protein Domain
Type: Family
Description: Mutations in the nucleotide excision repair (NER) pathway can cause the xeroderma pigmentosum skin cancer predisposition syndrome. NER lesions are limited to one DNA strand, but otherwise they are chemically and structurally diverse, being caused by a wide variety of genotoxic chemicals and ultraviolet radiation. The xeroderma pigmentosum C (XPC) protein has a central role in initiating global-genome NER by recognising the lesion and recruiting downstream factors. In NER in eukaryotes, DNA is incised on both sides of the lesion, resulting in the removal of a fragment ~25-30 nucleotides long. This is followed by repair synthesis and ligation. This reaction, in yeast, requires the damage binding factors Rad14, RPA, and the Rad4-Rad23 complex, the transcription factor TFIIH which contains the two DNA helicases Rad3 and Rad25, essential for creating a bubble structure, and the two endonucleases, the Rad1-Rad10 complex and Rad2, which incise the damaged DNA strand on the 5'- and 3'-side of the lesion, respectively [].The crystal structure of the yeast XPC orthologue Rad4 bound to DNA containing a cyclobutane pyrimidine dimer lesion has been determined. The structure shows that Rad4 inserts a β-hairpin through the DNA duplex, causing the two damaged base pairs to flip out of the double helix. The expelled nucleotides of the undamaged strand are recognised by Rad4, whereas the two cyclobutane pyrimidine dimer-linked nucleotides become disordered. This indicates that the lesions recognised by Rad4/XPC thermodynamically destabilise the double helix in a manner that facilitates the flipping-out of two base pairs []. Homologues of all the above mentioned yeast genes, except for RAD7, RAD16, and MMS19, have been identified in humans, and mutations in these human genesaffect NER in a similar fashion as they do in yeast, with the exception of XPC, the human counterpart of yeast RAD4. Deletion of RAD4 causes the same high levelof UV sensitivity as do mutations in the other class 1 genes, and rad4 mutants are completely defective in incision. By contrast, XPC is required forthe repair of nontranscribed regions of the genome but not for the repair of the transcribed DNA strand.
Genotype
Symbol: Ercc8/Ercc8 Xpc/Xpc
Background: involves: 129P2/OlaHsd * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Ercc8/Ercc8 Xpc/Xpc<+>
Background: involves: 129P2/OlaHsd * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Apex1/Apex1<+> Xpc/Xpc
Background: involves: 129
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Gadd45a/Gadd45a Xpc/Xpc
Background: either: (involves: 129/Sv * 129P2/OlaHsd * C57BL/6) or (involves: 129/Sv * 129X1/SvJ * C57BL/6)
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Ercc6/Ercc6 Xpc/Xpc
Background: involves: 129 * 129P2/OlaHsd * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
Protein
Organism: Mus musculus/domesticus
Length: 172  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 147  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 163  
Fragment?: false
Publication
First Author: Prakash S
Year: 2000
Journal: Mutat Res
Title: Nucleotide excision repair in yeast.
Volume: 451
Issue: 1-2
Pages: 13-24
Publication
First Author: Jani D
Year: 2012
Journal: Nucleic Acids Res
Title: Functional and structural characterization of the mammalian TREX-2 complex that links transcription with nuclear messenger RNA export.
Volume: 40
Issue: 10
Pages: 4562-73
Protein
Organism: Mus musculus/domesticus
Length: 930  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 930  
Fragment?: false
Publication
First Author: Ng JM
Year: 2002
Journal: Mol Cell Biol
Title: Developmental defects and male sterility in mice lacking the ubiquitin-like DNA repair gene mHR23B.
Volume: 22
Issue: 4
Pages: 1233-45
Publication  
First Author: Zhang Y
Year: 2021
Journal: Front Cell Dev Biol
Title: USP44 Stabilizes DDB2 to Facilitate Nucleotide Excision Repair and Prevent Tumors.
Volume: 9
Pages: 663411
Publication
First Author: Hsia KT
Year: 2003
Journal: Development
Title: DNA repair gene Ercc1 is essential for normal spermatogenesis and oogenesis and for functional integrity of germ cell DNA in the mouse.
Volume: 130
Issue: 2
Pages: 369-78
Publication
First Author: Ming M
Year: 2011
Journal: Cancer Res
Title: PTEN positively regulates UVB-induced DNA damage repair.
Volume: 71
Issue: 15
Pages: 5287-95
Publication
First Author: Ming M
Year: 2015
Journal: Oncogene
Title: Dual role of SIRT1 in UVB-induced skin tumorigenesis.
Volume: 34
Issue: 3
Pages: 357-63
Publication
First Author: Pines A
Year: 2009
Journal: DNA Repair (Amst)
Title: Differential activity of UV-DDB in mouse keratinocytes and fibroblasts: impact on DNA repair and UV-induced skin cancer.
Volume: 8
Issue: 2
Pages: 153-61
Publication
First Author: Melis JP
Year: 2011
Journal: Mutat Res
Title: The role of XPC: implications in cancer and oxidative DNA damage.
Volume: 728
Issue: 3
Pages: 107-17
Publication
First Author: Robu M
Year: 2013
Journal: Proc Natl Acad Sci U S A
Title: Role of poly(ADP-ribose) polymerase-1 in the removal of UV-induced DNA lesions by nucleotide excision repair.
Volume: 110
Issue: 5
Pages: 1658-63
Publication
First Author: Kaushik Tiwari M
Year: 2016
Journal: Nucleic Acids Res
Title: Triplex structures induce DNA double strand breaks via replication fork collapse in NER deficient cells.
Volume: 44
Issue: 16
Pages: 7742-54
Publication
First Author: Wu CL
Year: 2013
Journal: Oncogene
Title: Role of AMPK in UVB-induced DNA damage repair and growth control.
Volume: 32
Issue: 21
Pages: 2682-9
Publication
First Author: Meira LB
Year: 2001
Journal: Mutat Res
Title: Cancer predisposition in mutant mice defective in multiple genetic pathways: uncovering important genetic interactions.
Volume: 477
Issue: 1-2
Pages: 51-8
Protein
Organism: Mus musculus/domesticus
Length: 697  
Fragment?: true