Gene

rtel1

ID
ZDB-GENE-050306-11
Name
regulator of telomere elongation helicase 1
Symbol
rtel1 Nomenclature History
Previous Names
  • zgc:113114
Type
protein_coding_gene
Location
Chr: 11 Mapping Details/Browsers
Description
Predicted to have several functions, including 4 iron, 4 sulfur cluster binding activity; ATP binding activity; and DNA helicase activity. Predicted to be involved in DNA metabolic process; DNA replication; and regulation of double-strand break repair via homologous recombination. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in autosomal recessive dyskeratosis congenita 5. Orthologous to human RTEL1 (regulator of telomere elongation helicase 1).
Genome Resources
Note
None
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With rtel1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal recessive dyskeratosis congenita 5 Alliance Dyskeratosis congenita, autosomal dominant 4 615190
autosomal recessive dyskeratosis congenita 5 Alliance Dyskeratosis congenita, autosomal recessive 5 615190
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 616373
Associated With rtel1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR006554 Helicase-like, DEXD box c2 type
Domain IPR006555 ATP-dependent helicase, C-terminal
Domain IPR010614 DEAD2
Domain IPR014001 Helicase superfamily 1/2, ATP-binding domain
Domain IPR014013 Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type
Family IPR013020 ATP-dependent helicase Rad3/Chl1-like
Family IPR030845 Regulator of telomere elongation helicase 1
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Domain Details Per Protein
Protein Length ATP-dependent helicase, C-terminal ATP-dependent helicase Rad3/Chl1-like DEAD2 Helicase-like, DEXD box c2 type Helicase superfamily 1/2, ATP-binding domain Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type P-loop containing nucleoside triphosphate hydrolase Regulator of telomere elongation helicase 1
UniProtKB:P0C928 1177
UniProtKB:Q5CZT9 443
UniProtKB:F1QNW3 1177
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations