U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TERF1 telomeric repeat binding factor 1 [ Homo sapiens (human) ]

Gene ID: 7013, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
TERF1provided by HGNC
Official Full Name
telomeric repeat binding factor 1provided by HGNC
Primary source
HGNC:HGNC:11728
See related
Ensembl:ENSG00000147601 MIM:600951; AllianceGenome:HGNC:11728
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TRF; PIN2; TRF1; TRBF1; t-TRF1; hTRF1-AS
Summary
This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, acting in cis to limit the elongation of individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Multiple transcripts of this gene are alternatively spliced products. [provided by RefSeq, Aug 2022]
Expression
Ubiquitous expression in brain (RPKM 11.2), ovary (RPKM 9.8) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See TERF1 in Genome Data Viewer
Location:
8q21.11
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (73008864..73048123)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (73437901..73477172)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (73921099..73960358)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel subfamily B member 2 Neighboring gene MIA SH3 domain ER export factor 2 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr8:73625169-73625343 Neighboring gene uncharacterized LOC101926908 Neighboring gene uncharacterized LOC124901963 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:73792913-73793504 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:73793505-73794095 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:73794231-73795430 Neighboring gene NANOG hESC enhancer GRCh37_chr8:73837632-73838133 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:73909312-73909923 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:73912784-73913328 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:73913329-73913871 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:73914416-73914958 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:73913872-73914415 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:73916046-73916588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:73916589-73917131 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19286 Neighboring gene RNA, U6 small nuclear 285, pseudogene Neighboring gene somatomedin B and thrombospondin type 1 domain containing Neighboring gene uncharacterized LOC107986891 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:74085815-74086316 Neighboring gene Sharpr-MPRA regulatory region 10056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:74096970-74097470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:74097471-74097971

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Prognostic value of TERF1 expression in prostate cancer. Dos Santos GA, et al. J Egypt Natl Canc Inst, 2021 Sep 6. PMID 34486082
  2. Dynamics of TRF1 organizing a single human telomere. Li X, et al. Nucleic Acids Res, 2021 Jan 25. PMID 33347580, Free PMC Article
  3. Effect of TRF1 rs3863242 polymorphism on telomere length in omethoate-exposed workers. Zhou X, et al. J Environ Sci Health B, 2020. PMID 32077369
  4. A Novel Tissue and Stem Cell Specific TERF1 Splice Variant Is Downregulated in Tumour Cells. Morcos YAT, et al. Int J Mol Sci, 2019 Dec 20. PMID 31877678, Free PMC Article
  5. TRF1 as a major contributor for telomeres' shortening in the context of obesity. Grun LK, et al. Free Radic Biol Med, 2018 Dec. PMID 30268887

See all (223) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. In silico exploration and molecular dynamics of deleterious SNPs on the human TERF1 protein triggering male infertility.
    Title: In silico exploration and molecular dynamics of deleterious SNPs on the human TERF1 protein triggering male infertility.
  2. Structural basis of telomeric nucleosome recognition by shelterin factor TRF1.
    Title: Structural basis of telomeric nucleosome recognition by shelterin factor TRF1.
  3. In Vitro Characterization of the Physical Interactions between the Long Noncoding RNA TERRA and the Telomeric Proteins TRF1 and TRF2.
    Title: In Vitro Characterization of the Physical Interactions between the Long Noncoding RNA TERRA and the Telomeric Proteins TRF1 and TRF2.
  4. Compartmentalization of telomeres through DNA-scaffolded phase separation.
    Title: Compartmentalization of telomeres through DNA-scaffolded phase separation.
  5. Structure, dynamics, and regulation of TRF1-TIN2-mediated trans- and cis-interactions on telomeric DNA.
    Title: Structure, dynamics, and regulation of TRF1-TIN2-mediated trans- and cis-interactions on telomeric DNA.
  6. Prognostic value of TERF1 expression in prostate cancer.
    Title: Prognostic value of TERF1 expression in prostate cancer.
  7. Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population.
    Title: Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population.
  8. TERF1 downregulation promotes the migration and invasion of the PC3 prostate cancer cell line as a target of miR155.
    Title: TERF1 downregulation promotes the migration and invasion of the PC3 prostate cancer cell line as a target of miR‑155.
  9. Dynamics of TRF1 organizing a single human telomere.
    Title: Dynamics of TRF1 organizing a single human telomere.
  10. Association of Relative Leucocyte Telomere Length and Gene Single Nucleotide Polymorphisms (TERT, TRF1, TNKS2) in Laryngeal Squamous Cell Carcinoma.
    Title: Association of Relative Leucocyte Telomere Length and Gene Single Nucleotide Polymorphisms (TERT, TRF1, TNKS2) in Laryngeal Squamous Cell Carcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (109)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ41416

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables DNA binding, bending IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA binding, bending IDA
Inferred from Direct Assay
more info
 PubMed 
enables G-rich strand telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables G-rich strand telomeric DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ankyrin repeat binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ankyrin repeat binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables double-stranded telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables double-stranded telomeric DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
contributes_to telomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to telomerase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables telomeric DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in meiotic telomere clustering IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of DNA replication IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of establishment of RNA localization to telomere IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of establishment of protein localization to telomere IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of establishment of protein-containing complex localization to telomere IC
Inferred by Curator
more info
 PubMed 
involved_in negative regulation of exonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of exonuclease activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of telomerase activity IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in negative regulation of telomere maintenance via semi-conservative replication NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of telomere maintenance via telomerase IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in negative regulation of telomere maintenance via telomerase TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of telomere maintenance via telomere lengthening TAS
Traceable Author Statement
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of shelterin complex assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of telomere maintenance NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in t-circle formation TAS
Traceable Author Statement
more info
 PubMed 
involved_in telomere capping IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in telomere maintenance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in telomere maintenance via telomerase IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in telomere maintenance via telomerase IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in telomeric D-loop disassembly IGI
Inferred from Genetic Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in chromosome, telomeric region HDA PubMed 
located_in chromosome, telomeric region IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in fibrillar center IDA
Inferred from Direct Assay
more info
  
located_in nuclear body IDA
Inferred from Direct Assay
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 ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 
part_of shelterin complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of shelterin complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of shelterin complex TAS
Traceable Author Statement
more info
 PubMed 
located_in spindle IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
telomeric repeat-binding factor 1
Names
NIMA-interacting protein 2
TTAGGG repeat-binding factor 1
telomeric protein Pin2/TRF1
telomeric repeat binding factor (NIMA-interacting) 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Genomic

  1. NG_029121.1 RefSeqGene

    Range
    5003..44262
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001410928.1 → NP_001397857.1  telomeric repeat-binding factor 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AC022893
    Consensus CDS
    CCDS94314.1
    UniProtKB/TrEMBL
    A0A7I2YQE7
    Related
    ENSP00000503453.1, ENST00000678860.1

  2. NM_001413364.1 → NP_001400293.1  telomeric repeat-binding factor 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC022893

  3. NM_001413365.1 → NP_001400294.1  telomeric repeat-binding factor 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC022893

  4. NM_001413366.1 → NP_001400295.1  telomeric repeat-binding factor 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC022893

  5. NM_001413367.1 → NP_001400296.1  telomeric repeat-binding factor 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC022893

  6. NM_001413368.1 → NP_001400297.1  telomeric repeat-binding factor 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC022893

  7. NM_001413369.1 → NP_001400298.1  telomeric repeat-binding factor 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC022893

  8. NM_001413370.1 → NP_001400299.1  telomeric repeat-binding factor 1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC022893

  9. NM_001413371.1 → NP_001400300.1  telomeric repeat-binding factor 1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC022893
    UniProtKB/TrEMBL
    A0A7I2V5T5
    Related
    ENSP00000504760.1, ENST00000679115.1

  10. NM_001413372.1 → NP_001400301.1  telomeric repeat-binding factor 1 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC022893

  11. NM_001413373.1 → NP_001400302.1  telomeric repeat-binding factor 1 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC022893

  12. NM_001413374.1 → NP_001400303.1  telomeric repeat-binding factor 1 isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC022893

  13. NM_003218.4 → NP_003209.2  telomeric repeat-binding factor 1 isoform 2

    See identical proteins and their annotated locations for NP_003209.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC022893, AI218408, BC029378, BF056993, CX788828, DA658766
    Consensus CDS
    CCDS6210.1
    UniProtKB/TrEMBL
    A8K914
    Related
    ENSP00000276602.6, ENST00000276602.10
    Conserved Domains (2) summary
    cd11660
    Location:361 → 409
    SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family
    cd00280
    Location:76 → 264
    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, ...

  14. NM_017489.3 → NP_059523.2  telomeric repeat-binding factor 1 isoform 1

    See identical proteins and their annotated locations for NP_059523.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC022893, AI218408, BF056993, CX788828, DA658766, U40705
    Consensus CDS
    CCDS6211.1
    UniProtKB/Swiss-Prot
    A7XP29, P54274, Q15553, Q8NHT6, Q93029
    UniProtKB/TrEMBL
    A8K914
    Related
    ENSP00000276603.5, ENST00000276603.10
    Conserved Domains (3) summary
    smart00717
    Location:380 → 429
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    cd11660
    Location:381 → 429
    SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family
    cd00280
    Location:76 → 264
    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_182138.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022893
    Related
    ENST00000676483.1

  2. NR_182139.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022893

  3. NR_182140.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022893
    Related
    ENST00000678997.1

  4. NR_182141.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022893

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    73008864..73048123
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    73437901..73477172
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P54274.3 GenPept UniProtKB/Swiss-Prot:P54274

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous