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

Gene ID: 7013, updated on 24-Nov-2020

Summary

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
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. Two transcripts of this gene are alternatively spliced products. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 11.2), ovary (RPKM 9.8) and 25 other tissues See more
Orthologs

Genomic context

See TERF1 in Genome Data Viewer
Location:
8q21.11
Exon count:
12
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (73008856..73048123)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (73921097..73959987)

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 uncharacterized LOC101926908 Neighboring gene RNA, U6 small nuclear 285, pseudogene Neighboring gene somatomedin B and thrombospondin type 1 domain containing Neighboring gene uncharacterized LOC107986891

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41416

Gene Ontology Provided by GOA

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

General protein information

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)

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_003218.4NP_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/Swiss-Prot
    P54274
    Related
    ENSP00000276602.6, ENST00000276602.10
    Conserved Domains (2) summary
    cd11660
    Location:361409
    SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family
    cd00280
    Location:76264
    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_017489.3NP_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) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC022893, AI218408, BF056993, CX788828, DA658766, U40705
    Consensus CDS
    CCDS6211.1
    UniProtKB/Swiss-Prot
    P54274
    Related
    ENSP00000276603.5, ENST00000276603.10
    Conserved Domains (3) summary
    smart00717
    Location:380429
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    cd11660
    Location:381429
    SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family
    cd00280
    Location:76264
    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, ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    73008856..73048123
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517582.3XP_011515884.1  telomeric repeat-binding factor 1 isoform X3

    Conserved Domains (3) summary
    smart00717
    Location:306355
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    cd11660
    Location:307355
    SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family
    cl02779
    Location:1160
    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. XM_024447246.1XP_024303014.1  telomeric repeat-binding factor 1 isoform X4

    Conserved Domains (2) summary
    cd11660
    Location:277325
    SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family
    cl02779
    Location:1160
    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, ...
  3. XM_005251291.3XP_005251348.1  telomeric repeat-binding factor 1 isoform X1

    Conserved Domains (3) summary
    smart00717
    Location:410459
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    cd11660
    Location:411459
    SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family
    cd00280
    Location:76264
    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, ...
  4. XM_005251292.3XP_005251349.1  telomeric repeat-binding factor 1 isoform X2

    Conserved Domains (3) summary
    smart00717
    Location:390439
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    cd11660
    Location:391439
    SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family
    cd00280
    Location:76264
    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, ...
  5. XM_024447247.1XP_024303015.1  telomeric repeat-binding factor 1 isoform X6

    Conserved Domains (2) summary
    cd11660
    Location:236284
    SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family
    cl02779
    Location:1109
    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, ...
  6. XM_017013792.1XP_016869281.1  telomeric repeat-binding factor 1 isoform X5

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