Rtel1 MGI Mouse Gene Detail - MGI:2139369 - regulator of telomere elongation helicase 1

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

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

SNPs within 2kb

748 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (+)

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

HGNC:15888

NCBI Gene ID: 51750

neXtProt AC: NX_Q9NZ71

UniProt: Q9NZ71
Chr Location

20q13.33; chr20:63657810-63696253 (+) GRCh38

MGI Vertebrate Homology

Rtel1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: RTEL1
Gene Tree

Rtel1

Diseases

9 with human RTEL1 associations

				Human Disease	Mouse Models
				autosomal recessive dyskeratosis congenita 5 IDs autosomal recessive dyskeratosis congenita 5 DOID:0070022 OMIM:615190
				childhood astrocytic tumor IDs childhood astrocytic tumor DOID:3079 NCI:C9022 UMLS_CUI:C1321865
				chronic obstructive pulmonary disease IDs chronic obstructive pulmonary disease DOID:3083 DOID:11500 DOID:6144 EFO:0000341 ICD10CM:J44.9 MESH:D029424 NCI:C3199 OMIM:606963 UMLS_CUI:C0024117
				female breast cancer IDs female breast cancer DOID:0050671
				gastric adenocarcinoma IDs gastric adenocarcinoma DOID:3717 NCI:C4004 UMLS_CUI:C0278701
				lung cancer IDs lung cancer DOID:1324 DOID:13075 DOID:1322 DOID:9881 ICD10CM:C34.1 ICD10CM:C34.2 ICD10CM:C34.3 ICD9CM:162.3 ICD9CM:162.4 ICD9CM:162.5 ICD9CM:162.8 OMIM:211980 OMIM:608935 OMIM:612571 OMIM:612593 OMIM:614210 UMLS_CUI:C0024624 UMLS_CUI:C0153491 UMLS_CUI:C0153492 UMLS_CUI:C0153493
				melanoma IDs melanoma DOID:1909 EFO:0000756 KEGG:05218 MESH:D008545 NCI:C3224 UMLS_CUI:C0025202
				mixed glioma IDs mixed glioma DOID:5076 MESH:D005910 NCI:C3903 UMLS_CUI:C0259783
				prostate cancer IDs prostate cancer DOID:10283 DOID:514 ICD10CM:C61 ICD9CM:185 KEGG:05215 MESH:D011471 NCI:C3343 NCI:C7378 OMIM:176807 OMIM:300147 OMIM:300704 OMIM:601518 OMIM:602759 OMIM:608656 OMIM:608658 OMIM:609299 OMIM:609558 OMIM:610321 OMIM:610997 OMIM:611100 OMIM:611868 OMIM:611928 OMIM:611955 OMIM:611958 OMIM:611959 ORDO:1331 UMLS_CUI:C0033578 UMLS_CUI:C0376358

Click on a disease name to see all genes associated with that disease.

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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

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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
Endonuclease-mediated

4
Gene trapped

23
Targeted

9
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

75 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

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.

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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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase rtel1

ZFIN rtel1

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All Sequences

104
RefSeq

23
UniProt

7
CCDS

CCDS17208.1, CCDS50849.1, CCDS50850.1, CCDS50851.1, CCDS50852.1

Ensembl

ENSMUSG00000038685 (Evidence)
NCBI Gene

269400

			Length	Strain/Species	Flank
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

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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

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All nucleic 77

Genomic 3

cDNA 73

Other 1

Microarray probesets 5

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MGI:2138965

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

TSS for Rtel1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr22301	Chr2:180961507-180961573 (+)	8 bp
Tssr22302	Chr2:180961599-180961608 (+)	72 bp

Rtel1 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Tlq1	Chr2, 100.95 cM		J:91351	Rtel1 is a candidate gene for a previously mapped telomere length QTL named Tlq1 positioned at the distal end of mouse Chromosome 2. Rtel1/Tlq1 is located approximately 2 cM from the telomere at around 107 cM. An Rtel1 EST and cDNAs from Stmn3 and Arfrp1 hybrizided to BAC clone RP23-60M5. The order of genes at this locus is as follows: centromere - Stmn3 - Rtel1 - Arfrp1 - telomere

*cM position of peak correlated region/marker

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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