InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RTEL1

Summary

InnateDB Protein

IDBP-86837.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RTEL1

Protein Name

Regulator of telomere elongation helicase 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000359035

InnateDB Gene

IDBG-544022 (RTEL1)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000255HAMAP- Rule:MF_03065, ECO:0000269PubMed:18957201, ECO:0000269PubMed:23453664, ECO:0000269PubMed:24009516}.

Subcellular Localization

Nucleus {ECO:0000255HAMAP-Rule:MF_03065}. Note=Colocalizes with PCNA within the replication foci in S-phase cells. {ECO:0000255HAMAP-Rule:MF_03065}.

Disease Associations

Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]: A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. DKCB5 is characterized by onset of bone marrow failure and immunodeficiency in early childhood. Most patients also have growth and developmental delay and cerebellar hypoplasia, consistent with a clinical diagnosis of Hoyeraal-Hreidarsson syndrome. {ECO:0000269PubMed:23329068, ECO:0000269PubMed:23453664, ECO:0000269PubMed:23591994, ECO:0000269PubMed:23959892, ECO:0000269PubMed:24009516}. Note=The disease is caused by mutations affecting the gene represented in this entry. RTEL1 mutations have also been found in patients with a dyskeratosis congenita-like phenotype consisting of one feature of dyskeratosis congenita and short telomeres, in the absence of the typical DKC diagnostic triad (PubMed:23329068). {ECO:0000269PubMed:23329068}.Dyskeratosis congenita, autosomal dominant, 4 (DKCA4) [MIM:615190]: A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269PubMed:23329068}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003676	nucleic acid binding
GO:0003677	DNA binding
GO:0004003	ATP-dependent DNA helicase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008026	ATP-dependent helicase activity
GO:0016818	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
GO:0046872	metal ion binding
GO:0051539	4 iron, 4 sulfur cluster binding

Biological Process

GO:0000723	telomere maintenance
GO:0006139	nucleobase-containing compound metabolic process
GO:0006200	ATP catabolic process
GO:0006281	DNA repair
GO:0010569	regulation of double-strand break repair via homologous recombination
GO:0032508	DNA duplex unwinding
GO:0044281	small molecule metabolic process

Cellular Component

GO:0005634

nucleus

Protein Structure and Domains

PDB ID

InterPro

IPR006554 Helicase-like, DEXD box c2 type
IPR006555 ATP-dependent helicase, C-terminal
IPR010614 DEAD2
IPR013020 DNA helicase (DNA repair), Rad3 type
IPR014013 Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF13307
PF06733

PRINTS

PIRSF

SMART

SM00488
SM00491

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9NZ71