Terf1 telomeric repeat binding factor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Terf1provided by MGI
Official Full Name: telomeric repeat binding factor 1provided by MGI
Primary source: MGI:MGI:109634
See related: Ensembl:ENSMUSG00000025925 AllianceGenome:MGI:109634
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pin2; Trf1; Trbf1
Summary: This gene encodes a protein that binds to repeats in telomeres to form a nucleoprotein complex that protects against the degradation of chromosomal ends. The encoded protein regulates the length of telomeres and is an integral structural component of the functional telomere. This protein is thought to play a role in spindle formation in mitosis. Mutations in this gene are associated with bone marrow failure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 5.8), liver E14 (RPKM 4.7) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 A3; 1 4.88 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (15875634..15914283)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (15805546..15844052)

Chromosome 1 - NC_000067.7 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mouse HP1gamma regulates TRF1 expression and telomere stability.
Title: Mouse HP1γ regulates TRF1 expression and telomere stability.
Molecular Consequences of Depression Treatment: A Potential In Vitro Mechanism for Antidepressants-Induced Reprotoxic Side Effects.
Title: Molecular Consequences of Depression Treatment: A Potential In Vitro Mechanism for Antidepressants-Induced Reprotoxic Side Effects.
Effect of exercise on telomere length and telomere proteins expression in mdx mice.
Title: Effect of exercise on telomere length and telomere proteins expression in mdx mice.
TRF1 averts chromatin remodelling, recombination and replication dependent-break induced replication at mouse telomeres.
Title: TRF1 averts chromatin remodelling, recombination and replication dependent-break induced replication at mouse telomeres.
Here, the authors show that Telomere Repeat Binding Factor 1 (TRF1), a component of the shelterin complex, regulates the genome-wide binding of polycomb and polycomb H3K27me3 repressive marks to pluripotency genes, thereby exerting vast epigenetic changes that contribute to the maintenance of mouse embryonic stem cells in a naive state.
Title: TERRA regulate the transcriptional landscape of pluripotent cells through TRF1-dependent recruitment of PRC2.
results reveal a novel mechanism of TRF1, Speedy A, and Cdk2 in protecting telomere from fusion in a highly crowded microenvironment during meiosis.
Title: Dual roles of TRF1 in tethering telomeres to the nuclear envelope and protecting them from fusion during meiosis.
It plays a role in hematopoietic stem cell regulation and in the maintenance of the HSC pool and the development of hematological disorders.
Title: The role of telomere binding molecules for normal and abnormal hematopoiesis.
Loss of AURKB function affects TERF1 telomere binding and results in aberrant telomere structure.
Title: Aurora Kinase B, a novel regulator of TERF1 binding and telomeric integrity.
loss of telomere structure mediated by the TERB1-TRF1 interaction significantly affects homologous pairing of the telomere-adjacent pseudoautosomal region (PAR) of the X and Y chromosomes in mouse spermatocytes.
Title: Telomeric TERB1-TRF1 interaction is crucial for male meiosis.
Data show that TRF1 expression is increased in both human and mouse glioblastoma multiforme (GBM).
Title: Inhibition of TRF1 Telomere Protein Impairs Tumor Initiation and Progression in Glioblastoma Mouse Models and Patient-Derived Xenografts.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

NoName (e-PCR)
- UniSTS:234073

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding, bending	IEA Inferred from Electronic Annotation more info
enables DNA binding, bending	ISO Inferred from Sequence Orthology more info
enables G-rich strand telomeric DNA binding	IEA Inferred from Electronic Annotation more info
enables G-rich strand telomeric DNA binding	ISO Inferred from Sequence Orthology more info
enables ankyrin repeat binding	IEA Inferred from Electronic Annotation more info
enables ankyrin repeat binding	ISO Inferred from Sequence Orthology more info
enables double-stranded telomeric DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables double-stranded telomeric DNA binding	ISO Inferred from Sequence Orthology more info
enables double-stranded telomeric DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables microtubule binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
contributes_to telomerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables telomerase activity	IEA Inferred from Electronic Annotation more info
contributes_to telomerase activity	ISO Inferred from Sequence Orthology more info
enables telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables telomeric DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within leptotene	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within meiotic telomere clustering	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA replication	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA replication	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of establishment of RNA localization to telomere	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of establishment of RNA localization to telomere	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of establishment of protein localization to telomere	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of establishment of protein localization to telomere	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of exonuclease activity	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of exonuclease activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of telomere maintenance via telomerase	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of telomere maintenance via telomerase	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of telomeric D-loop disassembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of telomeric D-loop disassembly	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of telomeric D-loop disassembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of shelterin complex assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of shelterin complex assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of telomere maintenance	NAS Non-traceable Author Statement more info	PubMed
involved_in telomere capping	ISO Inferred from Sequence Orthology more info
involved_in telomere maintenance	ISO Inferred from Sequence Orthology more info
involved_in telomere maintenance via telomerase	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomere maintenance via telomerase	IEA Inferred from Electronic Annotation more info
involved_in telomere maintenance via telomerase	ISO Inferred from Sequence Orthology more info
involved_in telomeric D-loop disassembly	IEA Inferred from Electronic Annotation more info
involved_in telomeric D-loop disassembly	ISO Inferred from Sequence Orthology more info
NOT involved_in telomeric loop formation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, telomeric region	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in fibrillar center	IEA Inferred from Electronic Annotation more info
located_in fibrillar center	ISO Inferred from Sequence Orthology more info
located_in nuclear body	IEA Inferred from Electronic Annotation more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
part_of nuclear telomere cap complex	IBA Inferred from Biological aspect of Ancestor more info
part_of nuclear telomere cap complex	IDA Inferred from Direct Assay more info	PubMed
part_of nuclear telomere cap complex	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of shelterin complex	ISO Inferred from Sequence Orthology more info
located_in spindle	IEA Inferred from Electronic Annotation more info
colocalizes_with spindle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: telomeric repeat-binding factor 1

Names: TTAGGG repeat-binding factor 1

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_001286628.2 → NP_001273557.1 telomeric repeat-binding factor 1 isoform 2

See identical proteins and their annotated locations for NP_001273557.1

Status: REVIEWED

Source sequence(s)

AC109269

Consensus CDS

CCDS78547.1

UniProtKB/TrEMBL

Q3V252, Q7TSK8

Related

ENSMUSP00000027057.8, ENSMUST00000027057.8

Conserved Domains (3) summary

smart00717
Location:338 → 387

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

cd11660
Location:341 → 387

SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family

cl02779
Location:54 → 222

TRFH; Telomeric Repeat binding Factor or TTAGGG Repeat binding Factor, central (dimerization) domain Homology; TRFH. Telomeres are protein/DNA complexes that make up the physical ends of eukaryotic linear chromosomes and are essential for chromosome stability, ...
NM_001420524.1 → NP_001407453.1 telomeric repeat-binding factor 1 isoform 3

Status: REVIEWED

Source sequence(s)

AC109269
NM_001420525.1 → NP_001407454.1 telomeric repeat-binding factor 1 isoform 4

Status: REVIEWED

Source sequence(s)

AC109269
NM_009352.4 → NP_033378.1 telomeric repeat-binding factor 1 isoform 1

See identical proteins and their annotated locations for NP_033378.1

Status: REVIEWED

Source sequence(s)

AC109269

Consensus CDS

CCDS14827.1

UniProtKB/Swiss-Prot

P70371, Q9CY71

UniProtKB/TrEMBL

Q7TSK8

Related

ENSMUSP00000140744.2, ENSMUST00000188371.7

Conserved Domains (3) summary

smart00717
Location:367 → 416

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

cd11660
Location:370 → 416

SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family

cd00280
Location:54 → 251

TRFH; Telomeric Repeat binding Factor or TTAGGG Repeat binding Factor, central (dimerization) domain Homology; TRFH. Telomeres are protein/DNA complexes that make up the physical ends of eukaryotic linear chromosomes and are essential for chromosome stability, ...