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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
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: HGNC, HomoloGene
  • Synonyms
    C20orf41, DKCA4, DKCB5, NHL, PFBMFT3, RTEL
  • Links
    NCBI Gene ID: 51750
    neXtProt AC: NX_Q9NZ71

  • Chr Location
    20q13.3; chr20:63657810-63696253 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human RTEL1 associations

Human Disease Mouse Models
       Dyskeratosis Congenita, Autosomal Recessive 5; DKCB5   OMIM: 615190
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3;   OMIM: 616373
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    30 phenotypes from 6 alleles in 5 genetic backgrounds
    7 phenotypes from multigenic genotypes
    10 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.
  • All Mutations and Alleles
    36
  • Gene trapped
    28
  • Targeted
    8
  • Incidental Mutations
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
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
Interactions
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Sequences &
Gene Models
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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
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  • SNPs within 2kb
    274 from dbSNP Build 142
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000014340 regulator of telomere elongation helicase 1
  • EC
  • InterPro Domains
    IPR006555 ATP-dependent helicase, C-terminal
    IPR010614 DEAD2
    IPR013020 DNA helicase (DNA repair), Rad3 type
    IPR006554 Helicase-like, DEXD box c2 type
    IPR014013 Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type
    IPR006935 Helicase/UvrB, N-terminal
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR030845 Regulator of telomere elongation helicase 1
    IPR013083 Zinc finger, RING/FYVE/PHD-type
Molecular
Reagents
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  • All nucleic 75
    Genomic 2
    cDNA 72
    Other 1

    Microarray probesets 5
Other
Accession IDs
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MGI:2138965
References
more
  • Summaries
    All 34
    Developmental Gene Expression 2
    Gene Ontology 6
    Phenotypes 10
  • 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:202812 Vannier JB, et al., RTEL1 is a replisome-associated helicase that promotes telomere and genome-wide replication. Science. 2013 Oct 11;342(6155):239-42

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
06/22/2016
MGI 6.04
The Jackson Laboratory