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

Gene ID: 21749, updated on 24-Jan-2023

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
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Genomic context

See Terf1 in Genome Data Viewer
Location:
1 A3; 1 4.88 cM
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (15875634..15914276)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (15805546..15844052)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 25168 Neighboring gene peptidylprolyl isomerase A pseudogene 1_109.1 Neighboring gene somatomedin B and thrombospondin, type 1 domain containing Neighboring gene predicted gene, 31523

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (5)  1 citation
  • Endonuclease-mediated (3) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables DNA binding, bending IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA binding, bending ISO
Inferred from Sequence Orthology
more info
 
enables G-rich strand telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables G-rich strand telomeric DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables ankyrin repeat binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
enables double-stranded telomeric DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables microtubule binding ISO
Inferred from Sequence Orthology
more info
 
enables molecular adaptor activity ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
contributes_to telomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
acts_upstream_of_or_within cell cycle IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 ISO
Inferred from Sequence Orthology
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of exonuclease activity ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of telomerase activity ISO
Inferred from Sequence Orthology
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
PubMed 
involved_in negative regulation of telomeric D-loop disassembly ISO
Inferred from Sequence Orthology
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
PubMed 
involved_in telomere maintenance via telomerase ISO
Inferred from Sequence Orthology
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 IEA
Inferred from Electronic Annotation
more info
 
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 cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in fibrillar center ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear body ISO
Inferred from Sequence Orthology
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
 
part_of shelterin complex ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with spindle ISO
Inferred from Sequence Orthology
more info
 

General protein information

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)

  1. NM_001286628.1NP_001273557.1  telomeric repeat-binding factor 1 isoform 2

    See identical proteins and their annotated locations for NP_001273557.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.
    Source sequence(s)
    AC109269, AK132022, BB652245, BG073357
    Consensus CDS
    CCDS78547.1
    UniProtKB/TrEMBL
    Q3V252
    Related
    ENSMUSP00000027057.8, ENSMUST00000027057.8
    Conserved Domains (3) summary
    smart00717
    Location:338387
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    cd11660
    Location:341387
    SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family
    cl02779
    Location:54222
    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, ...
  2. NM_009352.3NP_033378.1  telomeric repeat-binding factor 1 isoform 1

    See identical proteins and their annotated locations for NP_033378.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC109269, BB652245, BC034866, BG073357
    Consensus CDS
    CCDS14827.1
    UniProtKB/Swiss-Prot
    P70371, Q9CY71
    Related
    ENSMUSP00000140744.2, ENSMUST00000188371.7
    Conserved Domains (3) summary
    smart00717
    Location:367416
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    cd11660
    Location:370416
    SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family
    cd00280
    Location:54251
    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, ...

RNA

  1. NR_152944.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC109269

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    15875634..15914276
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_004941782.1 RNA Sequence

  2. XR_004941783.1 RNA Sequence

  3. XR_004941784.1 RNA Sequence