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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
    gene page
  • Transcription Start Sites
    2 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr2:180961532-180998409 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 103.63 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    748 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2139369
 protein coding gene Chr2:180961504-180998409 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027019
 protein coding gene Chr2:187902592-187942405 (+)
A/J MGP_AJ_G0026985
 protein coding gene Chr2:180171060-180208250 (+)
AKR/J MGP_AKRJ_G0026956
 protein coding gene Chr2:185569206-185609183 (+)
BALB/cJ MGP_BALBcJ_G0026994
 protein coding gene Chr2:180643768-180681063 (+)
C3H/HeJ MGP_C3HHeJ_G0026735
 protein coding gene Chr2:185926264-185963714 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027440
 protein coding gene Chr2:193333461-193372525 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024804
 protein coding gene Chr2:170854384-170891138 (+)
CAST/EiJ MGP_CASTEiJ_G0026194
 protein coding gene Chr2:184185497-184223687 (+)
CBA/J MGP_CBAJ_G0026712
 protein coding gene Chr2:200340448-200380490 (+)
DBA/2J MGP_DBA2J_G0026850
 protein coding gene Chr2:179269638-179306178 (+)
FVB/NJ MGP_FVBNJ_G0026816
 protein coding gene Chr2:177887619-177924241 (+)
LP/J MGP_LPJ_G0026951
 protein coding gene Chr2:187928762-187969564 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026835
 protein coding gene Chr2:202904163-202941346 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027499
 protein coding gene Chr2:185542507-185578996 (+)
PWK/PhJ MGP_PWKPhJ_G0025930
 protein coding gene Chr2:176791337-176828385 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025730
 protein coding gene Chr2:182043547-182082175 (+)
WSB/EiJ MGP_WSBEiJ_G0026266
 protein coding gene Chr2:186528195-186566206 (+)



Homology
more
  • Human Ortholog
    RTEL1, regulator of telomere elongation helicase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RTEL1, regulator of telomere elongation helicase 1
  • 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
Human Diseases
more
  • Diseases
    9 with human RTEL1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
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
    17 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
less
  • All GO Annotations
    72
  • GO References
    12
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    710
  • Tissues
    4
  • cDNA Data
    73
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038685 Ensembl Gene Model | MGI Sequence Detail 36878 C57BL/6J ±  kb
    transcript ENSMUST00000054622 Ensembl | MGI Sequence Detail 4401 Not Applicable  
    polypeptide ENSMUSP00000053120 Ensembl | MGI Sequence Detail 1209 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • Protein Ontology
      PR:000014340 regulator of telomere elongation helicase 1
      (term hierarchy)
    • EC
      5.6.2.-
    • InterPro Domains
      IPR006555 ATP-dependent helicase, C-terminal
      IPR013020 ATP-dependent helicase Rad3/Chl1-like
      IPR006554 Helicase-like, DEXD box c2 type
      IPR014013 Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type
      IPR045028 Helicase superfamily 1/2, DinG/Rad3-like
      IPR006935 Helicase/UvrB, N-terminal
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR010614 RAD3-like helicase, DEAD
      IPR030845 Regulator of telomere elongation helicase 1
      IPR049909 Regulator of telomere elongation helicase 1, harmonin homology domain
    Molecular
    Reagents
    less
    • All nucleic 77
      Genomic 3
      cDNA 73
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2138965
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 3
      Gene Ontology 12
      Phenotypes 17
    • 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:344243 Smoom R, et al., Telomouse-a mouse model with human-length telomeres generated by a single amino acid change in RTEL1. Nat Commun. 2023 Oct 23;14(1):6708
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory