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HAMAP rule MF_03065

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General rule information [?]

Accession MF_03065
Dates 23-JAN-2014 (Created)
2-SEP-2024 (Last updated, Version 12)
Name RTEL1
Scope(s) Eukaryota
Metazoa
Template(s) Q9NZ71 (RTEL1_HUMAN); Q0VGM9 (RTEL1_MOUSE); Q93575 (RTEL1_CAEEL); [ Recover all ]
Triggered by HAMAP; MF_03065 (Get profile general information and statistics)

Propagated annotation [?]

Identifier, protein and gene names [?]

Identifier RTEL1
case <OC:Vertebrata>
RecName: Full=Regulator of telomere elongation helicase 1;<br /> &nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;EC=<a href="https://enzyme.expasy.org/EC/5.6.2.-">5.6.2.-</a>;
else
RecName: Full=Regulator of telomere elongation helicase 1 homolog;<br /> &nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;EC=<a href="https://enzyme.expasy.org/EC/5.6.2.-">5.6.2.-</a>;
end case
case <OC:Vertebrata>
Gene name Name=RTEL1;
else case <OC:Caenorhabditis>
Gene name Name=rtel-1; Synonyms=bch-1;
end case

Comments [?]

case <OC:Vertebrata>
FUNCTIONA probable ATP-dependent DNA helicase implicated in telomere- length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere.
else
FUNCTIONA probable ATP-dependent DNA helicase implicated in DNA repair and the maintenance of genomic stability. Acts as an anti- recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates.
end case
CATALYTIC ACTIVITY Reaction=ATP + H2O = ADP + phosphate + H(+); Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216;
case <OC:Mammalia>
SUBUNITInteracts with TERF1. Interacts (via PIP-box) with PCNA; the interaction is direct and essential for suppressing telomere fragility. Interacts with MMS19; the interaction mediates the association of RTEL1 with the cytosolic iron-sulfur protein assembly (CIA) complex.
end case
case <OC:Mammalia>
SUBCELLULAR LOCATIONNucleus. Note=Colocalizes with PCNA within the replication foci in S-phase cells.
else
SUBCELLULAR LOCATIONNucleus.
end case
case <FTTag:PIP>
DOMAINThe PIP-box (PCNA interacting peptide) motif mediates the interaction with PCNA and localization to replication foci.
end case
SIMILARITYBelongs to the helicase family. RAD3/XPD subfamily.

Keywords [?]

ATP-binding
DNA damage
DNA repair
DNA-binding
<a href="https://www.uniprot.org/keywords/KW-0347">Helicase</a>
Hydrolase
Isomerase
Nucleotide-binding
Nucleus
case <FTGroup:1>
4Fe-4S
Iron
Iron-sulfur
Metal-binding
end case

Gene Ontology [?]

GO:0005634; Cellular component:nucleus
GO:0051539; Molecular function:4 iron, 4 sulfur cluster binding
GO:0005524; Molecular function:ATP binding
GO:0003678; Molecular function:DNA helicase activity
GO:0003677; Molecular function:DNA binding
GO:0046872; Molecular function:metal ion binding
GO:0006281; Biological process:DNA repair
GO:0010569; Biological process:regulation of double-strand break repair via homologous recombination
case <OCellular component:Vertebrata>
GO:0000723; Biological process:telomere maintenance
end case

Cross-references [?]

PROSITE PS51193; HELICASE_ATP_BIND_2; 1;
PROSITE PS00690; DEAH_ATP_HELICASE; 1;
Pfam PF06733; DEAD_2; 1;
Pfam PF13307; Helicase_C_2; 1;
NCBIfam TIGR00604; rad3; 1;

Features [?]

From: RTEL1_HUMAN (Q9NZ71)
Key From To Description Tag Condition FTGroup
case <OC:Vertebrata>
MOTIF 151 167 /note="Nuclear localization signal" [RK]-[RK]-x(11)-R-[RK]-K-x
MOTIF 871 877 /note="Nuclear localization signal" x(4)-[RK]-[RK]-K
end case
case <OC:Mammalia>
MOTIF 1178 1185 /note="PIP-box" PIP Q-x(2)-[ILVAMG]-x(2)-[FL]-[FL]
end case
BINDING 145 145 /ligand="[4Fe-4S] cluster"
/ligand_id="ChEBI:CHEBI:49883"
C 1
BINDING 163 163 /ligand="[4Fe-4S] cluster"
/ligand_id="ChEBI:CHEBI:49883"
C 1
BINDING 172 172 /ligand="[4Fe-4S] cluster"
/ligand_id="ChEBI:CHEBI:49883"
C 1
BINDING 207 207 /ligand="[4Fe-4S] cluster"
/ligand_id="ChEBI:CHEBI:49883"
C 1

Additional information [?]

Size range 783-1334 amino acids
Related rules None
Fusion Nter: None Cter: None



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