Rtel1 - regulator of telomere elongation helicase 1 Gene

Mus musculus

Also known as Rtel

Gene ID: 269400 | Gene type: protein coding

About Rtel1

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 trophectoderm. Human ortholog(s) of this gene implicated in autosomal recessive dyskeratosis congenita 5. Orthologous to human RTEL1 (regulator of telomere elongation helicase 1). [provided by Alliance of Genome Resources, Apr 2022]

Rtel1 Products(6)

mRNA	Protein	Name
NM_001001882.3	NP_001001882.3	regulator of telomere elongation helicase 1 isoform 1
NM_001166665.1	NP_001160137.1	regulator of telomere elongation helicase 1 isoform 2
NM_001166666.1	NP_001160138.1	regulator of telomere elongation helicase 1 isoform 3
NM_001166667.1	NP_001160139.1	regulator of telomere elongation helicase 1 isoform 4
NM_001166668.1	NP_001160140.1	regulator of telomere elongation helicase 1 isoform 5
NM_001363071.1	NP_001350000.1	regulator of telomere elongation helicase 1 isoform 6

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA helicase activity	IDA IDA: Inferred from direct assay	24115439	MGI
enables DNA polymerase binding	IPI IPI: Inferred from physical interaction	24115439	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	24115439	MGI

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA duplex unwinding	IDA IDA: Inferred from direct assay	24115439	MGI
involved in DNA strand displacement	IDA IDA: Inferred from direct assay	22579284	MGI
involved in mitotic telomere maintenance via semi-conservative replication	IDA IDA: Inferred from direct assay	24115439	MGI
involved in negative regulation of DNA recombination	IDA IDA: Inferred from direct assay	22579284	MGI
involved in negative regulation of t-circle formation	IMP IMP: Inferred from mutant phenotype	22579284	MGI
involved in negative regulation of telomere maintenance in response to DNA damage	IMP IMP: Inferred from mutant phenotype	22579284	MGI
involved in positive regulation of telomere maintenance	IMP IMP: Inferred from mutant phenotype	22579284	MGI
involved in positive regulation of telomeric loop disassembly	IDA IDA: Inferred from direct assay	22579284	MGI
involved in replication fork processing	IDA IDA: Inferred from direct assay	24115439	MGI
acts upstream of or within telomere maintenance	IMP IMP: Inferred from mutant phenotype	15210109	MGI
involved in telomere maintenance in response to DNA damage	IMP IMP: Inferred from mutant phenotype	22579284	MGI
involved in telomeric loop disassembly	IDA IDA: Inferred from direct assay	22579284	MGI
involved in telomeric loop disassembly	IMP IMP: Inferred from mutant phenotype	24115439	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in chromosome, telomeric region	IDA IDA: Inferred from direct assay	22579284	MGI
located in nucleus	IDA IDA: Inferred from direct assay	15210109	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

regulator of telomere elongation helicase 1

DEAH helicase

regulator of telomere length

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12317	RTEL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Rtel1	NCBI	NCBI:51750

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