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Search results 101 to 189 out of 189 for Palb2

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0.023s
Type Details Score
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1796228
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692875
Age: postnatal adult
Image: JAX_1798807
Specimen Label: JAX_1798807
Detected: true
Specimen Num: 19
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1881228
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692875
Age: postnatal adult
Image: JAX_1798811
Specimen Label: JAX_1798811
Detected: true
Specimen Num: 23
Publication
First Author: Chiang HC
Year: 2018
Journal: Sci Rep
Title: Gene-Specific Genetic Complementation between Brca1 and Cobra1 During Mouse Mammary Gland Development.
Volume: 8
Issue: 1
Pages: 2731
Publication
First Author: Brandsma I
Year: 2019
Journal: Cell Rep
Title: HSF2BP Interacts with a Conserved Domain of BRCA2 and Is Required for Mouse Spermatogenesis.
Volume: 27
Issue: 13
Pages: 3790-3798.e7
Publication
First Author: Dickinson ME
Year: 2016
Journal: Nature
Title: High-throughput discovery of novel developmental phenotypes.
Volume: 537
Issue: 7621
Pages: 508-514
Publication      
First Author: The Jackson Laboratory
Year: 2012
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by The Jackson Laboratory
Publication
First Author: Friedel RH
Year: 2007
Journal: Brief Funct Genomic Proteomic
Title: EUCOMM--the European conditional mouse mutagenesis program.
Volume: 6
Issue: 3
Pages: 180-5
Publication
First Author: Koscielny G
Year: 2014
Journal: Nucleic Acids Res
Title: The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data.
Volume: 42
Issue: Database issue
Pages: D802-9
Publication
First Author: Stryke D
Year: 2003
Journal: Nucleic Acids Res
Title: BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.
Volume: 31
Issue: 1
Pages: 278-81
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: Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC)
Year: 2014
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database
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: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database
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: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
Publication
First Author: Adams DJ
Year: 2024
Journal: Nature
Title: Genetic determinants of micronucleus formation in vivo.
Volume: 627
Issue: 8002
Pages: 130-136
Publication        
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
Publication
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
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: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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 Ensembl Annotations
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 NCBI 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: 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
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication
First Author: Pauty J
Year: 2014
Journal: Biochem J
Title: Exploring the roles of PALB2 at the crossroads of DNA repair and cancer.
Volume: 460
Issue: 3
Pages: 331-42
Publication
First Author: Pulver EM
Year: 2021
Journal: Cancer Res
Title: A BRCA1 Coiled-Coil Domain Variant Disrupting PALB2 Interaction Promotes the Development of Mammary Tumors and Confers a Targetable Defect in Homologous Recombination Repair.
Volume: 81
Issue: 24
Pages: 6171-6182
Interaction Experiment
Description: Palb2 synergizes with Trp53 to suppress mammary tumor formation in a model of inherited breast cancer.
DO Term
Publication
First Author: Hayakawa T
Year: 2010
Journal: J Cell Sci
Title: MRG15 binds directly to PALB2 and stimulates homology-directed repair of chromosomal breaks.
Volume: 123
Issue: Pt 7
Pages: 1124-30
Protein
Organism: Mus musculus/domesticus
Length: 179  
Fragment?: true
Publication
First Author: Gauci S
Year: 2009
Journal: Anal Chem
Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
Volume: 81
Issue: 11
Pages: 4493-501
Publication
First Author: Kovalenko OV
Year: 1997
Journal: Nucleic Acids Res
Title: A novel nucleic acid-binding protein that interacts with human rad51 recombinase.
Volume: 25
Issue: 24
Pages: 4946-53
Protein Domain
Type: Family
Description: RAD51-associated protein 1 may participate in a common DNA damage response pathway associated with the activation of homologous recombination and double-strand break repair []. It functionally cooperates with PALB2 in promoting of D-loop formation by RAD51 [, ]. It binds to single and double stranded DNA, and is capable of aggregating DNA []. It also binds RNA []. It is phosphorylated upon DNA damage, probably by ATM or ATR [, , ].
Protein
Organism: Mus musculus/domesticus
Length: 337  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 336  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 337  
Fragment?: false
Publication
First Author: Kovalenko OV
Year: 2006
Journal: Nucleic Acids Res
Title: RAD51AP2, a novel vertebrate- and meiotic-specific protein, shares a conserved RAD51-interacting C-terminal domain with RAD51AP1/PIR51.
Volume: 34
Issue: 18
Pages: 5081-92
Publication
First Author: Callen E
Year: 2020
Journal: Mol Cell
Title: 53BP1 Enforces Distinct Pre- and Post-resection Blocks on Homologous Recombination.
Volume: 77
Issue: 1
Pages: 26-38.e7
Publication
First Author: Nacson J
Year: 2018
Journal: Cell Rep
Title: BRCA1 Mutation-Specific Responses to 53BP1 Loss-Induced Homologous Recombination and PARP Inhibitor Resistance.
Volume: 24
Issue: 13
Pages: 3513-3527.e7
Publication
First Author: Cicchini M
Year: 2014
Journal: Autophagy
Title: Autophagy regulator BECN1 suppresses mammary tumorigenesis driven by WNT1 activation and following parity.
Volume: 10
Issue: 11
Pages: 2036-52
Publication
First Author: Tischkowitz M
Year: 2011
Journal: J Pathol
Title: Using mouse models to investigate the biological and physiological consequences of defects in the Fanconi anaemia/breast cancer DNA repair signalling pathway.
Volume: 224
Issue: 3
Pages: 301-5
Publication
First Author: Godon C
Year: 2012
Journal: EMBO J
Title: Generation of DNA single-strand displacement by compromised nucleotide excision repair.
Volume: 31
Issue: 17
Pages: 3550-63
Publication
First Author: Nouspikel T
Year: 1994
Journal: Hum Mol Genet
Title: Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.
Volume: 3
Issue: 6
Pages: 963-7
Publication
First Author: Habraken Y
Year: 1996
Journal: Proc Natl Acad Sci U S A
Title: Transcription factor TFIIH and DNA endonuclease Rad2 constitute yeast nucleotide excision repair factor 3: implications for nucleotide excision repair and Cockayne syndrome.
Volume: 93
Issue: 20
Pages: 10718-22
Publication
First Author: Lee SK
Year: 2002
Journal: Cell
Title: Requirement of yeast RAD2, a homolog of human XPG gene, for efficient RNA polymerase II transcription. implications for Cockayne syndrome.
Volume: 109
Issue: 7
Pages: 823-34
Publication
First Author: Tsutakawa SE
Year: 2020
Journal: Proc Natl Acad Sci U S A
Title: Human XPG nuclease structure, assembly, and activities with insights for neurodegeneration and cancer from pathogenic mutations.
Volume: 117
Issue: 25
Pages: 14127-14138
Publication
First Author: Trego KS
Year: 2016
Journal: Mol Cell
Title: Non-catalytic Roles for XPG with BRCA1 and BRCA2 in Homologous Recombination and Genome Stability.
Volume: 61
Issue: 4
Pages: 535-546
Publication
First Author: Dephoure N
Year: 2008
Journal: Proc Natl Acad Sci U S A
Title: A quantitative atlas of mitotic phosphorylation.
Volume: 105
Issue: 31
Pages: 10762-7
Publication
First Author: Pardo PS
Year: 2002
Journal: J Biol Chem
Title: MRG15, a novel chromodomain protein, is present in two distinct multiprotein complexes involved in transcriptional activation.
Volume: 277
Issue: 52
Pages: 50860-6
Protein Domain
Type: Family
Description: Mortality factor 4-like protein 1 (MORF4L1 or MRG15) is a transcription factor and a chromodomain protein. It is a component of the NuA4 histone acetyltransferase complex [], the Sin3 complex which acts to repress transcription by deacetylation of nucleosomal histones [], and the nuclear protein complexes MAF1 and MAF2 []. MRG15 also interacts with the BRCA complex, especially with subunit PALB2 []. MRG15 has an MRG domain in its C-terminal region, which interacts with the nucleoprotein PAM14 during transcriptional regulation [].The NuA4 histone acetyltransferase complex (also known as the TRRAP/TIP60-containing histone acetyltransferase complex) acetylates nucleosomal histones H4 and H2A thereby activating selected genes for transcription and is a a key regulator of transcription, cellular response to DNA damage and cell cycle control []. In yeast, where the complex was first identified, NuA4 consists of at least ACT1, ARP4, YAF9, VID21, SWC4, EAF3, EAF5, EAF6, EAF7, EPL1, ESA1, TRA1 and YNG2 []. In humans, the complex is composed of the histone acetyltransferase KAT5 (also known as TIP60) plus the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, MAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6 [].
Protein Domain
Type: Family
Description: This entry represents XPG (ERCC-5, alsoknown as Rad2 in budding yeast, AtRAD2 or UVH3 in Arabidopsis and Rad13 in fission yeast), a single-stranded structure-specific DNA endonuclease, which cleaves single-stranded DNA during nucleotide excision repair to excise damaged DNA []. It makes the 3' incision in DNA nucleotide excision repair (NER); it binds and bends DNA repair bubble substrate and breaks base stacking at the single-strand/double-strand DNA junction of the DNA bubble [, ]. XPG is required for DNA replication fork maintenance and preservation of genomic stability [, ]. It is involved in homologous recombination repair (HRR) induced by DNA replication stress by recruiting RAD51, BRCA2, and PALB2 to the damaged DNA site []. During HRR, binds to the replication fork with high specificity and stabilizes it []and upstream of HRR, it promotes the release of BRCA1 from DNA [].In Saccharomyces cerevisiae, Rad2 forms the Nucleotide Excision Repair Factor 3 (NEF3) complex with a subset of subunits of the transcription factor TFIIH []. Besides DNA damage repair, it is also required for efficient transcription []. Defects in XPG are the cause of xeroderma pigmentosum complementation group G (XP-G), which is an autosomal recessive pigmentary skin disorder characterised by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities [].
Publication
First Author: Matsuoka S
Year: 2007
Journal: Science
Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
Volume: 316
Issue: 5828
Pages: 1160-6
Publication
First Author: Zhang P
Year: 2006
Journal: Protein Sci
Title: The MRG domain of human MRG15 uses a shallow hydrophobic pocket to interact with the N-terminal region of PAM14.
Volume: 15
Issue: 10
Pages: 2423-34
Protein
Organism: Mus musculus/domesticus
Length: 172  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 218  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 215  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 362  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1170  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 790  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 323  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 898  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 1170  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 296  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1166  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 644  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 323  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 314  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 1043  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 274  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 1170  
Fragment?: false
Publication
First Author: González-Corrochano R
Year: 2020
Journal: Nucleic Acids Res
Title: The crystal structure of human XPG, the xeroderma pigmentosum group G endonuclease, provides insight into nucleotide excision DNA repair.
Volume: 48
Issue: 17
Pages: 9943-9958
Publication
First Author: Doyon Y
Year: 2004
Journal: Mol Cell Biol
Title: Structural and functional conservation of the NuA4 histone acetyltransferase complex from yeast to humans.
Volume: 24
Issue: 5
Pages: 1884-96
Publication
First Author: Kobor MS
Year: 2004
Journal: PLoS Biol
Title: A protein complex containing the conserved Swi2/Snf2-related ATPase Swr1p deposits histone variant H2A.Z into euchromatin.
Volume: 2
Issue: 5
Pages: E131
Publication
First Author: Doyon Y
Year: 2004
Journal: Curr Opin Genet Dev
Title: The highly conserved and multifunctional NuA4 HAT complex.
Volume: 14
Issue: 2
Pages: 147-54
Publication
First Author: Gerhard DS
Year: 2004
Journal: Genome Res
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Volume: 14
Issue: 10B
Pages: 2121-7