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Rtel1 Gene Detail
Summary
  • Symbol
    Rtel1
  • Name
    regulator of telomere elongation helicase 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2139369
    NCBI Gene: 269400
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr2:181319739-181356616 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      36878 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 103.63 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    RTEL1, regulator of telomere elongation helicase 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    RTEL1, regulator of telomere elongation helicase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C20orf41, DKCA4, DKCB5, NHL, PFBMFT3, RTEL
  • Links
    NCBI Gene ID: 51750
    neXtProt AC: NX_Q9NZ71
    UniProt: Q9NZ71

  • Chr Location
    20q13.33; chr20:63657810-63696253 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    30 phenotypes from 6 alleles in 5 genetic backgrounds
    7 phenotypes from multigenic genotypes
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous null mice display embryonic lethality with abnormal development of the neural tube, brain, heart, vasculature, placenta, and allantois and chromosomal abnormalities in differentiating cells.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000016649 VEGA Gene Model | MGI Sequence Detail 36878 C57BL/6J ±  kb
    transcript OTTMUST00000040273 VEGA | MGI Sequence Detail 4401 Not Applicable  
    polypeptide OTTMUSP00000017993 VEGA | MGI Sequence Detail 1209 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      274 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 75
      Genomic 2
      cDNA 72
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2138965
    References
    more
    • Summaries
      All 36
      Developmental Gene Expression 2
      Gene Ontology 6
      Phenotypes 11
    • Earliest
      J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
    • Latest
      J:257566 Leon-Ortiz AM, et al., A Distinct Class of Genome Rearrangements Driven by Heterologous Recombination. Mol Cell. 2018 Jan 18;69(2):292-305.e6

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory