ENSMUSG00000038685


Mus musculus

Features
Gene ID: ENSMUSG00000038685
  
Biological name :Rtel1
  
Synonyms : Q0VGM9 / Regulator of telomere elongation helicase 1 / Rtel1
  
Possible biological names infered from orthology : Q9NZ71 / RTEL1-TNFRSF6B / RTEL1-TNFRSF6B readthrough (NMD candidate)
  
Species: Mus musculus
  
Chr. number: 2
Strand: 1
Band: H4
Gene start: 181319739
Gene end: 181356616
  
Corresponding Affymetrix probe sets: 10479560 (MoGene1.0st)   1435516_x_at (Mouse Genome 430 2.0 Array)   1436728_s_at (Mouse Genome 430 2.0 Array)   1455347_at (Mouse Genome 430 2.0 Array)   1456729_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000138971
Ensembl peptide - ENSMUSP00000121400
Ensembl peptide - ENSMUSP00000123039
Ensembl peptide - ENSMUSP00000043563
Ensembl peptide - ENSMUSP00000053120
Ensembl peptide - ENSMUSP00000096571
Ensembl peptide - ENSMUSP00000104442
Ensembl peptide - ENSMUSP00000104443
Ensembl peptide - ENSMUSP00000116159
Ensembl peptide - ENSMUSP00000118810
Ensembl peptide - ENSMUSP00000120162
NCBI entrez gene - 269400     See in Manteia.
MGI - MGI:2139369
RefSeq - NM_001166667
RefSeq - NM_001166666
RefSeq - NM_001166668
RefSeq - XM_006500633
RefSeq - XM_006500636
RefSeq - XM_006500637
RefSeq - XM_006500638
RefSeq - XM_006500639
RefSeq - XM_006500640
RefSeq - XM_006500641
RefSeq - XM_006500642
RefSeq - XM_006500643
RefSeq - XM_017318844
RefSeq - NM_001001882
RefSeq - NM_001166665
RefSeq Peptide - NP_001160140
RefSeq Peptide - NP_001001882
RefSeq Peptide - NP_001160137
RefSeq Peptide - NP_001160138
RefSeq Peptide - NP_001160139
swissprot - F6UWJ0
swissprot - Z4YLW7
swissprot - A2AU08
swissprot - F6X1P9
swissprot - F6RDU0
swissprot - Q0VGM9
swissprot - V9GX41
Ensembl - ENSMUSG00000038685
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rtel1ENSDARG00000035074Danio rerio
 ENSGALG00000006123Gallus gallus
 RTEL1ENSG00000258366Homo sapiens
 RTEL1-TNFRSF6BENSG00000026036Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Brip1 / Q5SXJ3 / Fanconi anemia group J protein homolog / Q9BX63* / BRCA1 interacting protein C-terminal helicase 1*ENSMUSG0000003432923
Ddx11 / Q6AXC6 / Mus musculus DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 (Ddx11), transcript variant 2, mRNA. / Q96FC9* / DEAD/H-box helicase 11*ENSMUSG0000003584217


Protein motifs (from Interpro)
Interpro ID Name
 IPR006554  Helicase-like, DEXD box c2 type
 IPR006555  ATP-dependent helicase, C-terminal
 IPR006935  Helicase/UvrB, N-terminal
 IPR010614  DEAD2
 IPR013020  ATP-dependent helicase Rad3/Chl1-like
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR014013  Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR030845  Regulator of telomere elongation helicase 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000723 telomere maintenance ISO
 biological_processGO:0000732 strand displacement IDA
 biological_processGO:0006139 nucleobase-containing compound metabolic process IEA
 biological_processGO:0006260 DNA replication IEA
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006310 DNA recombination IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0010569 regulation of double-strand break repair via homologous recombination ISS
 biological_processGO:0031297 replication fork processing IDA
 biological_processGO:0032206 positive regulation of telomere maintenance IMP
 biological_processGO:0032508 DNA duplex unwinding IDA
 biological_processGO:0043247 telomere maintenance in response to DNA damage IMP
 biological_processGO:0045910 negative regulation of DNA recombination IDA
 biological_processGO:0061820 telomeric D-loop disassembly TAS
 biological_processGO:0090657 telomeric loop disassembly IMP
 biological_processGO:1902990 mitotic telomere maintenance via semi-conservative replication IDA
 biological_processGO:1904355 positive regulation of telomere capping ISO
 biological_processGO:1904358 positive regulation of telomere maintenance via telomere lengthening ISO
 biological_processGO:1904430 negative regulation of t-circle formation IMP
 biological_processGO:1904506 negative regulation of telomere maintenance in response to DNA damage IMP
 biological_processGO:1904535 positive regulation of telomeric loop disassembly IDA
 cellular_componentGO:0000781 chromosome, telomeric region IDA
 cellular_componentGO:0005634 nucleus IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0004003 ATP-dependent DNA helicase activity IDA
 molecular_functionGO:0004386 helicase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding ISO
 molecular_functionGO:0008026 ATP-dependent helicase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051536 iron-sulfur cluster binding IEA
 molecular_functionGO:0051539 4 iron, 4 sulfur cluster binding IEA
 molecular_functionGO:0070182 DNA polymerase binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000737 abnormal myotome development "malformation of or absence of the part of the somite that develops into the musculature" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:29279]
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

 MP:0000928 incomplete cephalic closure "arrest of the fusion of the cephalic neural folds" [J:12622]
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

 MP:0001711 abnormal placenta 
Show

Allelic Composition: Rtel1tm1.1Hdin/Rtel1tm1.1Hdin
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N * SJL

 MP:0001713 reduced trophoblast cell number "fewer than normal number of cells of the extraembryonic cell layer that contributes to the placenta" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:23171]
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

 MP:0002032 sarcoma "connective tissue neoplasm associated with the proliferation of mesodermal cells" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:58877]
Show

Allelic Composition: Rtel1tm2.1Hdin/Rtel1tm2.1Hdin,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Chd7tm2a(EUCOMM)Wtsi/Chd7tm2a(EUCOMM)Wtsi
Genetic Background: involves: 129S6/SvEvTac * C57BL/6N

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

Allelic Composition: Rtel1tm1.1Hdin/Rtel1tm1.1Hdin
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N * SJL

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Avy/a
Genetic Background: involves: C3H/HeJ * C57BL/6

Allelic Composition: Rtel1tm2.1Pml/Rtel1tm2.1Pml
Genetic Background: 129.129P2(B6)-Rtel1tm2.1Pml

 MP:0002584 small ectoplacental cone 
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

 MP:0002627 teratoma "neoplasms composed of multiple tissue types; includes types not found in tissue in which lesion arises" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Rtel1tm2.1Hdin/Rtel1tm2.1Hdin,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6

 MP:0003231 abnormal placental vasculature "malformation in the vessels of the placenta" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93157]
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

 MP:0004046 abnormal mitosis "anomaly in the process of cell division including both division of the nucleus (karyokinesis) and the cytoplasm (cytokinesis) " [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Chd7tm2a(EUCOMM)Wtsi/Chd7tm2a(EUCOMM)Wtsi
Genetic Background: involves: 129S6/SvEvTac * C57BL/6N

 MP:0004206 abnormal dermomyotome development "any structural anomaly of the portion of the embryonic somite that remains after migration of the sclerotomic tissue" [J:50279, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

 MP:0004556 enlarged allantois "increased size of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rtel1tm1.1Hdin/Rtel1tm1.1Hdin
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N * SJL

 MP:0004559 small allantois "reduced size of the fetal membrane which contributes to the formation of the umbilical cord and placental blood vessels" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

 MP:0005076 abnormal cell differentiation "anomaly in the process whereby relatively unspecialized cells, e. g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism s life history" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

 MP:0005244 hemopericardium "bleeding into the pericardial space" [Pathology:ISBN 0-397-51047-0]
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

 MP:0005294 abnormal heart ventricle morphology "structural anomaly of one or both of the two lower chambers of the heart " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

 MP:0005312 pericardial effusion "escape of fluid from blood vessels or lymphatics into the fibrous sac surrounding the heart" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Rtel1tm1.1Hdin/Rtel1tm1.1Hdin
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N * SJL

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Chd7tm2a(EUCOMM)Wtsi/Chd7tm2a(EUCOMM)Wtsi
Genetic Background: involves: 129S6/SvEvTac * C57BL/6N

 MP:0006283 medulloblastoma "a solid, cancerous tumor originating in the cerebellum of the brain and of primitive neuroectodermal origin " [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rtel1tm2.1Hdin/Rtel1tm2.1Hdin,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6

 MP:0008008 early cellular replicative senescence "increase in the progression of the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Chd7tm2a(EUCOMM)Wtsi/Chd7tm2a(EUCOMM)Wtsi
Genetic Background: involves: 129S6/SvEvTac * C57BL/6N

 MP:0008057 abnormal DNA replication "any anomaly in the process whereby new strands of DNA are synthesized" [GO:0006260]
Show

Allelic Composition: Chd7tm2a(EUCOMM)Wtsi/Chd7tm2a(EUCOMM)Wtsi
Genetic Background: involves: 129S6/SvEvTac * C57BL/6N

Allelic Composition: Rtel1tm1Hdin/Rtel1tm1Hdin
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008817 hematoma "an abnormal localized accumulation of clotted or partially clotted blood in an organ or a soft tissue space as a result of localized hemorrhage" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

 MP:0009657 failure of chorioallantoic fusion "failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

 MP:0009845 abnormal neural crest cell morphology "any structural anomaly of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and disperse to many peripheral locations to form various tissues of the adult" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

 MP:0010207 abnormal telomere morphology "any structural anomaly of the terminal repetitive DNA section of a chromosome which is involved in chromosomal replication and senescence, and which protects the end of the chromosome from deterioration" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Chd7tm2a(EUCOMM)Wtsi/Chd7tm2a(EUCOMM)Wtsi
Genetic Background: involves: 129S6/SvEvTac * C57BL/6N

Allelic Composition: Rtel1tm2.1Hdin/Rtel1tm2.1Hdin,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6

 MP:0010308 decreased tumor latency "earlier onset of tumor occurrence than expected" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rtel1tm2.1Hdin/Rtel1tm2.1Hdin,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

Allelic Composition: Rtel1tm1.1Hdin/Rtel1tm1.1Hdin
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N * SJL

 MP:0011259 abnormal cephalic neural fold morphology "any structural anomaly of the elevated margins of the neural groove that are located in the future cephalic region of the embryo" [ISBN:0-683-40008-8, MGI:csmith]
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

 MP:0012431 increased lymphoma incidence "greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period" [http://orcid.org/0000-0001-5208-3432, MGI:csmith]
Show

Allelic Composition: Rtel1tm2.1Hdin/Rtel1tm2.1Hdin,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ * C57BL/6

 MP:0012675 enlarged floor plate "increased size of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube" [MGI:anna]
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

 MP:0030539 abnormal head paraxial mesoderm morphology "any structural anomaly of the paraxial mesoderm located on either side of the neural tube, anterior to the occipital somites; in the head region, the unsegmented cranial paraxial mesoderm contributes to the developing heart, specific skull bones and skeletal muscles of the head and neck region" [https://books.google.com/books?isbn=0123849527, https://discovery.lifemapsc.com/in-vivo-development/paraxial-mesoderm, UBERON:0009617]
Show

Allelic Composition: Cckartm1Kpn/Cckartm1Kpn
Genetic Background: involves: 129S/SvEv

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr