Rtel1 regulator of telomere elongation helicase 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Rtel1provided by RGD
Official Full Name: regulator of telomere elongation helicase 1provided by RGD
Primary source: RGD:1306721
See related: EnsemblRapid:ENSRNOG00000027513 AllianceGenome:RGD:1306721
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: RGD1306721
Summary: Predicted to enable ATP binding activity; DNA helicase activity; and DNA polymerase binding activity. Predicted to be involved in DNA duplex unwinding; DNA metabolic process; and regulation of DNA metabolic process. Predicted to be located in chromosome, telomeric region; nuclear membrane; and nuclear speck. Predicted to be active in nucleus. Biomarker of silicosis. 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, Dec 2024]
Expression: Biased expression in Thymus (RPKM 145.6), Lung (RPKM 115.9) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 3q43

Exon count:: 44

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	3	NC_086021.1 (188778329..188842877)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	3	NC_051338.1 (168427247..168465349)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	3	NC_005102.4 (176818012..176856531)

Chromosome 3 - NC_086021.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by RGD

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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
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	ISO Inferred from Sequence Orthology more info
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 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA Inferred from Electronic Annotation more info
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
involved_in DNA duplex unwinding	ISO Inferred from Sequence Orthology more info
involved_in DNA recombination	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in DNA replication	IEA Inferred from Electronic Annotation more info
involved_in DNA strand displacement	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of DNA recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA recombination	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of telomere maintenance in response to DNA damage	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of telomere capping	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of telomere maintenance	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
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	IEA Inferred from Electronic Annotation 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	ISO Inferred from Sequence Orthology more info
involved_in telomere maintenance	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within telomere maintenance	ISO Inferred from Sequence Orthology more info
involved_in telomere maintenance	ISO Inferred from Sequence Orthology more info
involved_in telomere maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in telomere maintenance in response to DNA damage	ISO Inferred from Sequence Orthology more info
involved_in telomeric loop disassembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomeric loop disassembly	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	ISO Inferred from Sequence Orthology more info
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	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: regulator of telomere elongation helicase 1

Names: helicase-like protein NHL

NP_001178786.1

EC 3.6.4.12

XP_006235834.1

EC 3.6.4.12

XP_006235835.1

EC 3.6.4.12

XP_006235836.1

EC 3.6.4.12

XP_006235837.1

EC 3.6.4.12

XP_006235838.1

EC 3.6.4.12

XP_006235840.1

EC 3.6.4.12

XP_038961489.1

EC 3.6.4.12

XP_038961491.1

EC 3.6.4.12

XP_038961496.1

EC 3.6.4.12

XP_063140312.1

EC 3.6.4.12

XP_063140313.1

EC 3.6.4.12

XP_063140314.1

EC 3.6.4.12

XP_063140315.1

EC 3.6.4.12

XP_063140317.1

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_001191857.2 → NP_001178786.1 regulator of telomere elongation helicase 1 isoform 1

See identical proteins and their annotated locations for NP_001178786.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000003

UniProtKB/Swiss-Prot

Q5RJZ1

UniProtKB/TrEMBL

A0A8I6AMG5

Related

ENSRNOP00000094899.1, ENSRNOT00000098539.2

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_001434393.1 → NP_001421322.1 regulator of telomere elongation helicase 1 isoform 2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000003

UniProtKB/TrEMBL

A0A0G2JVG0
NM_001434394.1 → NP_001421323.1 regulator of telomere elongation helicase 1 isoform 3

Status: VALIDATED

Source sequence(s)

JAXUCZ010000003

UniProtKB/TrEMBL

A0A0G2JVG0
NM_001434395.1 → NP_001421324.1 regulator of telomere elongation helicase 1 isoform 4

Status: VALIDATED

Source sequence(s)

JAXUCZ010000003

UniProtKB/TrEMBL

A0A0G2JVG0
NM_001434396.1 → NP_001421325.1 regulator of telomere elongation helicase 1 isoform 5

Status: VALIDATED

Source sequence(s)

JAXUCZ010000003

UniProtKB/TrEMBL

A0A0G2JVG0, A0A8I6A8F3
NM_001434397.1 → NP_001421326.1 regulator of telomere elongation helicase 1 isoform 6

Status: VALIDATED

Source sequence(s)

JAXUCZ010000003

UniProtKB/TrEMBL

A0A0G2JVG0
NM_001434399.1 → NP_001421328.1 regulator of telomere elongation helicase 1 isoform 7

Status: VALIDATED

Source sequence(s)

JAXUCZ010000003

UniProtKB/TrEMBL

A0A0G2JVG0, A0A8I6A605

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086021.1 Reference GRCr8

Range

188778329..188842877

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063284242.1 → XP_063140312.1 regulator of telomere elongation helicase 1 isoform X1

UniProtKB/TrEMBL

A0A0G2JVG0
XM_006235773.5 → XP_006235835.1 regulator of telomere elongation helicase 1 isoform X1

See identical proteins and their annotated locations for XP_006235835.1

UniProtKB/TrEMBL

A0A0G2JVG0

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_006235772.5 → XP_006235834.1 regulator of telomere elongation helicase 1 isoform X1

Related

ENSRNOP00000051909.4, ENSRNOT00000055030.5

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_006235774.4 → XP_006235836.1 regulator of telomere elongation helicase 1 isoform X2

UniProtKB/TrEMBL

A0A0G2JVG0

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
XM_006235775.5 → XP_006235837.1 regulator of telomere elongation helicase 1 isoform X3

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
XM_063284243.1 → XP_063140313.1 regulator of telomere elongation helicase 1 isoform X4
XM_006235776.5 → XP_006235838.1 regulator of telomere elongation helicase 1 isoform X5

UniProtKB/TrEMBL

A0A0G2JVG0

Related

ENSRNOP00000088333.1, ENSRNOT00000100640.2

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
XM_039105563.2 → XP_038961491.1 regulator of telomere elongation helicase 1 isoform X9

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_039105561.2 → XP_038961489.1 regulator of telomere elongation helicase 1 isoform X1

UniProtKB/TrEMBL

A0A0G2JVG0

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_063284244.1 → XP_063140314.1 regulator of telomere elongation helicase 1 isoform X6

UniProtKB/TrEMBL

A0A8I6AMG5
XM_063284245.1 → XP_063140315.1 regulator of telomere elongation helicase 1 isoform X8

UniProtKB/TrEMBL

A0A8I6AMG5
XM_006235778.5 → XP_006235840.1 regulator of telomere elongation helicase 1 isoform X7

UniProtKB/TrEMBL

A0A8I6AMG5

Conserved Domains (4) summary

cd13932
Location:654 → 753

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

TIGR00604
Location:12 → 520

rad3; DNA repair helicase (rad3)

pfam13307
Location:322 → 508

Helicase_C_2; Helicase C-terminal domain

cl21455
Location:10 → 49

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_063284247.1 → XP_063140317.1 regulator of telomere elongation helicase 1 isoform X11
XM_039105568.2 → XP_038961496.1 regulator of telomere elongation helicase 1 isoform X10

Conserved Domains (2) summary

cd13932
Location:454 → 553

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

TIGR00604
Location:29 → 320

rad3; DNA repair helicase (rad3)