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Search results 1 to 100 out of 112 for Rtel1

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Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: chimpanzee
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: chicken
Gene
Type: gene
Organism: zebrafish
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: dog, domestic
Gene
Type: gene
Organism: rat
Protein Domain
Type: Family
Description: Regulator of telomere elongation helicase 1 (RTEL1) is a animal functional analogue of yeast Srs2, which is a DNA helicase and DNA-dependent ATPase involved in DNA repair and checkpoint recovery []. RTEL1 is an essential DNA helicase that disassembles a variety of DNA secondary structures to facilitate DNA replication, repair, and recombination processes, and to maintain telomere integrity [, , ]. It is recruited by Trf2 to telomeres in S phase to promote T-Loop unwinding []. It is also required for the export and the correct cytoplasmic trafficking of the small nuclear (sn) RNA pre-U2, a component of themajor spliceosome complex []. Constitutional mutations in the RTEL1 gene cause Hoyeraal-Hreidarsson syndrome (HHS), a severe form of Dyskeratosis congenita characterised by developmental defects, bone marrow failure and immunodeficiency and has been associated with telomere dysfunction [, ].
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Publication
First Author: Sarek G
Year: 2015
Journal: Mol Cell
Title: TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.
Volume: 57
Issue: 4
Pages: 622-35
Publication
First Author: Kotsantis P
Year: 2020
Journal: Cell Rep
Title: RTEL1 Regulates G4/R-Loops to Avert Replication-Transcription Collisions.
Volume: 33
Issue: 12
Pages: 108546
Publication
First Author: Barber LJ
Year: 2008
Journal: Cell
Title: RTEL1 maintains genomic stability by suppressing homologous recombination.
Volume: 135
Issue: 2
Pages: 261-71
Publication
First Author: Walne AJ
Year: 2013
Journal: Am J Hum Genet
Title: Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
Volume: 92
Issue: 3
Pages: 448-53
Publication
First Author: Bellelli R
Year: 2020
Journal: Cell Rep
Title: Synthetic Lethality between DNA Polymerase Epsilon and RTEL1 in Metazoan DNA Replication.
Volume: 31
Issue: 8
Pages: 107675
Publication
First Author: Uringa EJ
Year: 2012
Journal: Mol Biol Cell
Title: RTEL1 contributes to DNA replication and repair and telomere maintenance.
Volume: 23
Issue: 14
Pages: 2782-92
Publication
First Author: Vannier JB
Year: 2012
Journal: Cell
Title: RTEL1 dismantles T loops and counteracts telomeric G4-DNA to maintain telomere integrity.
Volume: 149
Issue: 4
Pages: 795-806
Publication
First Author: Vannier JB
Year: 2013
Journal: Science
Title: RTEL1 is a replisome-associated helicase that promotes telomere and genome-wide replication.
Volume: 342
Issue: 6155
Pages: 239-42
Publication
First Author: Wu X
Year: 2012
Journal: Transgenic Res
Title: Generation of a mouse model for studying the role of upregulated RTEL1 activity in tumorigenesis.
Volume: 21
Issue: 5
Pages: 1109-15
Publication
First Author: Deng Z
Year: 2013
Journal: Proc Natl Acad Sci U S A
Title: Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
Volume: 110
Issue: 36
Pages: E3408-16
Publication      
First Author: Kaestner K
Year: 2024
Journal: Direct Data Submission
Title: Separation of telomere protection from length regulation by different point mutations at methionine 492 of RTEL1 in a mouse model of Separation of telomere protection from length regulation by different point mutations at methionine 492 of Hoyeraal-Hreidarsson syndrome.
Publication
First Author: Ballew BJ
Year: 2013
Journal: PLoS Genet
Title: A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
Volume: 9
Issue: 8
Pages: e1003695
Publication
First Author: Schertzer M
Year: 2015
Journal: Nucleic Acids Res
Title: Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.
Volume: 43
Issue: 3
Pages: 1834-47
Publication
First Author: Vannier JB
Year: 2014
Journal: Trends Cell Biol
Title: RTEL1: functions of a disease-associated helicase.
Volume: 24
Issue: 7
Pages: 416-25
Protein
Organism: Mus musculus/domesticus
Length: 1203  
Fragment?: false
Publication
First Author: Seshadri N
Year: 2018
Journal: Transgenic Res
Title: Generation of an Rtel1-CreERT2 knock-in mouse model for lineage tracing RTEL1+ stem cells during development.
Volume: 27
Issue: 6
Pages: 571-578
Publication
First Author: Smoom R
Year: 2023
Journal: Nat Commun
Title: Telomouse-a mouse model with human-length telomeres generated by a single amino acid change in RTEL1.
Volume: 14
Issue: 1
Pages: 6708
Publication
First Author: León-Ortiz AM
Year: 2018
Journal: Mol Cell
Title: A Distinct Class of Genome Rearrangements Driven by Heterologous Recombination.
Volume: 69
Issue: 2
Pages: 292-305.e6
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
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: Wu X
Year: 2007
Journal: Genesis
Title: Establishment of conditional knockout alleles for the gene encoding the regulator of telomere length (RTEL).
Volume: 45
Issue: 12
Pages: 788-92
GXD Expression    
Probe: MGI:7442641
Assay Type: RNA in situ
Annotation Date: 2023-03-09
Strength: Present
Sex: Male
Emaps: EMAPS:3526628
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:7442643
Age: postnatal adult
Specimen Label: 2a
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:3803757
Assay Type: In situ reporter (knock in)
Annotation Date: 2023-03-09
Strength: Present
Sex: Male
Emaps: EMAPS:3147628
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:7442440
Age: postnatal adult
Note: Expression is seen in spermatogonial cells located along the base membrane of the seminiferous tubule.
Specimen Label: 1c
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:3803757
Assay Type: In situ reporter (knock in)
Annotation Date: 2023-03-09
Strength: Present
Sex: Male
Emaps: EMAPS:1797528
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:7442440
Age: postnatal adult
Note: Expression is seen in spermatogonial cells located along the base membrane of the seminiferous tubule.
Specimen Label: 1c
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:5765991
Assay Type: RNA in situ
Annotation Date: 2016-05-02
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1604615
Pattern: Not Specified
Stage: TS15
Assay Id: MGI:5765993
Age: embryonic day 9.5
Image: 2K right
Specimen Label: 2K right
Detected: true
Specimen Num: 1
Publication
First Author: Margalef P
Year: 2018
Journal: Cell
Title: Stabilization of Reversed Replication Forks by Telomerase Drives Telomere Catastrophe.
Volume: 172
Issue: 3
Pages: 439-453.e14
Publication
First Author: Ding H
Year: 2004
Journal: Cell
Title: Regulation of murine telomere length by Rtel: an essential gene encoding a helicase-like protein.
Volume: 117
Issue: 7
Pages: 873-86
Publication  
First Author: Wu X
Year: 2010
Journal: BMC Dev Biol
Title: EMG1 is essential for mouse pre-implantation embryo development.
Volume: 10
Pages: 99
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: MGC Data curation in Mouse Genome Informatics
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Journal: Database Download
Title: Integrating Computational Gene Models into the Mouse Genome Informatics (MGI) Database
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: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
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: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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: 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: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
Publication      
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
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: 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: Gaudet P
Year: 2011
Journal: Brief Bioinform
Title: Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.
Volume: 12
Issue: 5
Pages: 449-62
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: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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 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 (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: 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: 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
DO Term
DO Term
Allele
Name: regulator of telomere elongation helicase 1; endonuclease-mediated mutation 2, Klaus H Kaestner
Allele Type: Endonuclease-mediated
Attribute String: Not Specified
Allele
Name: regulator of telomere elongation helicase 1; targeted mutation 4.1, Hao Ding
Allele Type: Targeted
Attribute String: Inducible, Null/knockout, Recombinase
Genotype
Symbol: Rtel1/Rtel1<+>
Background: involves: 129S1/Sv * 129X1/SvJ
Zygosity: ht
Has Mutant Allele: true
Publication
First Author: L Holloway S
Year: 2000
Journal: Nucleic Acids Res
Title: CHL1 is a nuclear protein with an essential ATP binding site that exhibits a size-dependent effect on chromosome segregation.
Volume: 28
Issue: 16
Pages: 3056-64
Publication
First Author: Petronczki M
Year: 2004
Journal: J Cell Sci
Title: Sister-chromatid cohesion mediated by the alternative RF-CCtf18/Dcc1/Ctf8, the helicase Chl1 and the polymerase-alpha-associated protein Ctf4 is essential for chromatid disjunction during meiosis II.
Volume: 117
Issue: Pt 16
Pages: 3547-59
Protein Domain
Type: Family
Description: This entry includes a group of ATP-dependent helicases, including Rad3/XPD (ERCC2), Chl1/DDX11, DDX12, RTEL1 and BRIP1. Rad3/XPD is a subunit of RNA polII initiation factor TFIIH and of Nucleotide Excision Repair Factor 3 (NEF3) [, ]. DDX11/Chl1 is required for sister-chromatid cohesion [, , ]. Defects in DDX11 are the cause of Warsaw breakage syndrome (WBRS). It is a syndrome characterised by severe microcephaly, pre- and postnatal growth retardation, facial dysmorphism and abnormal skin pigmentation [].
Genotype
Symbol: Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> Rtel1/Rtel1<+>
Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ
Zygosity: cn
Has Mutant Allele: true
Publication
First Author: Sung P
Year: 1996
Journal: J Biol Chem
Title: Reconstitution of TFIIH and requirement of its DNA helicase subunits, Rad3 and Rad25, in the incision step of nucleotide excision repair.
Volume: 271
Issue: 18
Pages: 10821-6
Publication
First Author: Svejstrup JQ
Year: 1994
Journal: J Biol Chem
Title: RNA polymerase transcription factor IIH holoenzyme from yeast.
Volume: 269
Issue: 45
Pages: 28044-8
Publication
First Author: Sarek G
Year: 2019
Journal: Nature
Title: CDK phosphorylation of TRF2 controls t-loop dynamics during the cell cycle.
Volume: 575
Issue: 7783
Pages: 523-527
Publication
First Author: Inoue A
Year: 2007
Journal: Cell Cycle
Title: Loss of ChlR1 helicase in mouse causes lethality due to the accumulation of aneuploid cells generated by cohesion defects and placental malformation.
Volume: 6
Issue: 13
Pages: 1646-54
Publication
First Author: van der Lelij P
Year: 2010
Journal: Am J Hum Genet
Title: Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1.
Volume: 86
Issue: 2
Pages: 262-6
Protein
Organism: Mus musculus/domesticus
Length: 443  
Fragment?: true