Rtel1 regulator of telomere elongation helicase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rtel1provided by MGI
Official Full Name: regulator of telomere elongation helicase 1provided by MGI
Primary source: MGI:MGI:2139369
See related: Ensembl:ENSMUSG00000038685 AllianceGenome:MGI:2139369
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Rtel
Summary: Enables DNA helicase activity and DNA polymerase binding activity. Involved in DNA duplex unwinding; DNA metabolic process; and regulation of DNA metabolic process. Acts upstream of or within telomere maintenance. Located in chromosome, telomeric region and nucleus. Is expressed in crypt of lieberkuhn; germ cell of testis; seminiferous tubule; and trophectoderm. Human ortholog(s) of this gene implicated in several diseases, including autosomal recessive dyskeratosis congenita 5; female breast cancer; gastric adenocarcinoma; high grade glioma (multiple); and lung disease (multiple). Orthologous to human RTEL1 (regulator of telomere elongation helicase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in limb E14.5 (RPKM 9.4), CNS E14 (RPKM 9.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 H4; 2 103.63 cM

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (180961504..180998409)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (181319711..181356616)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Knockdown of RTEL1 Alleviates Chronic Obstructive Pulmonary Disease by Modulating M1, M2 Macrophage Polarization and Inflammation.
Title: Knockdown of RTEL1 Alleviates Chronic Obstructive Pulmonary Disease by Modulating M1, M2 Macrophage Polarization and Inflammation.
RTEL1 Regulates G4/R-Loops to Avert Replication-Transcription Collisions.
Title: RTEL1 Regulates G4/R-Loops to Avert Replication-Transcription Collisions.
Rtel1 binds to and inhibits restart of reversed replication forks within telomeres, which compromises replication and leads to critically short telomeres.
Title: Stabilization of Reversed Replication Forks by Telomerase Drives Telomere Catastrophe.
RTEL1 plays a critical role in both telomere and genome-wide replication, which is crucial for genetic stability and tumor avoidance.
Title: RTEL1 is a replisome-associated helicase that promotes telomere and genome-wide replication.
Upregulated RTEL1 is tumorigenic and is able to initiate the formation of hepatocellular carcinoma in mice.
Title: Generation of a mouse model for studying the role of upregulated RTEL1 activity in tumorigenesis.
propose that mRtel1 is a key protein for DNA replication, recombination, and repair and efficient elongation of telomeres by telomerase
Title: RTEL1 contributes to DNA replication and repair and telomere maintenance.
RTEL1 performs two distinct functions at telomeres: it disassembles T loops and also counteracts telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere.
Title: RTEL1 dismantles T loops and counteracts telomeric G4-DNA to maintain telomere integrity.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4) 1 citation
Targeted (7) 1 citation

General gene information

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Markers

AW540478 (e-PCR)
- UniSTS:178796

AI451565 (e-PCR)
- UniSTS:159086

NoName (e-PCR)
- UniSTS:234634

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 4 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables ATP binding	IBA Inferred from Biological aspect of Ancestor more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA helicase activity	ISO Inferred from Sequence Orthology more info
enables DNA helicase activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA polymerase binding	IBA Inferred from Biological aspect of Ancestor more info
enables DNA polymerase binding	IPI Inferred from Physical Interaction more info	PubMed
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables double-stranded DNA helicase activity	IEA Inferred from Electronic Annotation more info
enables forked DNA-dependent helicase activity	IEA Inferred from Electronic Annotation more info
enables four-way junction helicase activity	IEA Inferred from Electronic Annotation more info
enables helicase activity	TAS Traceable Author Statement more info	PubMed
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded 3'-5' DNA helicase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA duplex unwinding	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA duplex unwinding	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in DNA strand displacement	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in mitotic telomere maintenance via semi-conservative replication	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of t-circle formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of t-circle formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of t-circle formation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of telomere maintenance in response to DNA damage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of telomere capping	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of telomere capping	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of telomere maintenance via telomere lengthening	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of telomere maintenance via telomere lengthening	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of telomeric loop disassembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in regulation of double-strand break repair via homologous recombination	ISS Inferred from Sequence or Structural Similarity more info
involved_in replication fork processing	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere maintenance	ISO Inferred from Sequence Orthology more info
involved_in telomere maintenance in response to DNA damage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomeric D-loop disassembly	TAS Traceable Author Statement more info	PubMed
involved_in telomeric loop disassembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomeric loop disassembly	IDA Inferred from Direct Assay more info	PubMed
involved_in telomeric loop disassembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomeric loop disassembly	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: regulator of telomere elongation helicase 1

Names: DEAH helicase; regulator of telomere length

NP_001001882.3

EC 3.6.4.12

NP_001160137.1

EC 3.6.4.12

NP_001160138.1

EC 3.6.4.12

NP_001160139.1

EC 3.6.4.12

NP_001160140.1

EC 3.6.4.12

XP_006500696.1

EC 3.6.4.12

XP_006500700.1

EC 3.6.4.12

XP_006500703.1

EC 3.6.4.12

XP_006500704.1

EC 3.6.4.12

XP_006500705.1

EC 3.6.4.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001001882.4 → NP_001001882.3 regulator of telomere elongation helicase 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AL928965

Consensus CDS

CCDS17208.1

UniProtKB/TrEMBL

Z4YLW7

Related

ENSMUSP00000053120.9, ENSMUST00000054622.15

Conserved Domains (5) summary

cd13932
Location:877 → 976

HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)

TIGR00604
Location:10 → 743

rad3; DNA repair helicase (rad3)

pfam06733
Location:111 → 272

DEAD_2; DEAD_2

pfam13307
Location:545 → 731

Helicase_C_2; Helicase C-terminal domain

cl21455
Location:15 → 86

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001166665.2 → NP_001160137.1 regulator of telomere elongation helicase 1 isoform 2

See identical proteins and their annotated locations for NP_001160137.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame segment in the CDS, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.

Source sequence(s)

AL928965

Consensus CDS

CCDS50849.1

UniProtKB/Swiss-Prot

A2AU09, A2AU10, A2AU11, A2AU12, A2AU13, A2AU14, Q0VGM9, Q3UM40, Q5F0J8, Q69ZS1, Q6H1L0, Q6H1L1, Q6H1L2, Q6H1L3

UniProtKB/TrEMBL

Z4YLW7

Related

ENSMUSP00000104442.2, ENSMUST00000108814.8

Conserved Domains (5) summary

cd13932
Location:877 → 976

HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)

TIGR00604
Location:10 → 743

rad3; DNA repair helicase (rad3)

pfam06733
Location:111 → 272

DEAD_2; DEAD_2

pfam13307
Location:545 → 731

Helicase_C_2; Helicase C-terminal domain

cl21455
Location:15 → 86

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001166666.2 → NP_001160138.1 regulator of telomere elongation helicase 1 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an in-frame exon in the CDS, as compared to variant 1. The resulting isoform (3) lacks an internal segment, as compared to isoform 1.

Source sequence(s)

AL928965

Consensus CDS

CCDS50851.1

UniProtKB/TrEMBL

Z4YLW7

Related

ENSMUSP00000096571.5, ENSMUST00000098971.11

Conserved Domains (5) summary

cd13932
Location:877 → 976

HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)

TIGR00604
Location:10 → 743

rad3; DNA repair helicase (rad3)

pfam06733
Location:111 → 272

DEAD_2; DEAD_2

pfam13307
Location:545 → 731

Helicase_C_2; Helicase C-terminal domain

cl21455
Location:15 → 86

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001166667.2 → NP_001160139.1 regulator of telomere elongation helicase 1 isoform 4

See identical proteins and their annotated locations for NP_001160139.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an in-frame segment in the CDS, as compared to variant 1. The resulting isoform (4) lacks an internal segment, as compared to isoform 1.

Source sequence(s)

AL928965

Consensus CDS

CCDS50852.1

UniProtKB/TrEMBL

Z4YLW7

Related

ENSMUSP00000104443.2, ENSMUST00000108815.8

Conserved Domains (5) summary

cd13932
Location:877 → 976

HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)

TIGR00604
Location:10 → 743

rad3; DNA repair helicase (rad3)

pfam06733
Location:111 → 272

DEAD_2; DEAD_2

pfam13307
Location:545 → 731

Helicase_C_2; Helicase C-terminal domain

cl21455
Location:15 → 86

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001166668.2 → NP_001160140.1 regulator of telomere elongation helicase 1 isoform 5

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks an in-frame exon in the CDS, as compared to variant 1. The resulting isoform (5) lacks an internal segment, as compared to isoform 1.

Source sequence(s)

AL928965

Consensus CDS

CCDS50850.1

UniProtKB/TrEMBL

Z4YLW7

Related

ENSMUSP00000043563.10, ENSMUST00000048608.16

Conserved Domains (5) summary

cd13932
Location:877 → 976

HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)

TIGR00604
Location:10 → 743

rad3; DNA repair helicase (rad3)

pfam06733
Location:111 → 272

DEAD_2; DEAD_2

pfam13307
Location:545 → 731

Helicase_C_2; Helicase C-terminal domain

cl21455
Location:15 → 86

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RNA

NR_030710.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (6) lacks an internal segment and has a split 3' exon, as compared to variant 1. The resulting transcript is a nonsense-mediated mRNA decay (NMD) candidate, so is probably not making a protein.

Source sequence(s)

AL928965
NR_197779.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL928965

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

180961504..180998409

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006500642.4 → XP_006500705.1 regulator of telomere elongation helicase 1 isoform X5

UniProtKB/TrEMBL

Z4YLW7

Conserved Domains (2) summary

cd13932
Location:877 → 976

HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)

TIGR00604
Location:10 → 743

rad3; DNA repair helicase (rad3)
XM_006500641.3 → XP_006500704.1 regulator of telomere elongation helicase 1 isoform X4

Conserved Domains (2) summary

cd13932
Location:877 → 976

HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)

TIGR00604
Location:10 → 743

rad3; DNA repair helicase (rad3)
XM_006500633.3 → XP_006500696.1 regulator of telomere elongation helicase 1 isoform X1

See identical proteins and their annotated locations for XP_006500696.1

Conserved Domains (2) summary

cd13932
Location:877 → 976

HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)

TIGR00604
Location:10 → 743

rad3; DNA repair helicase (rad3)
XM_006500637.3 → XP_006500700.1 regulator of telomere elongation helicase 1 isoform X2

Conserved Domains (2) summary

cd13932
Location:877 → 976

HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)

TIGR00604
Location:10 → 743

rad3; DNA repair helicase (rad3)
XM_006500640.3 → XP_006500703.1 regulator of telomere elongation helicase 1 isoform X3

Conserved Domains (2) summary

cd13932
Location:877 → 976

HN_RTEL1; harmonin_N_like domain of regulator of telomere elongation helicase 1 (also known as RTEL)

TIGR00604
Location:10 → 743

rad3; DNA repair helicase (rad3)