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

    Gene ID: 7013, updated on 3-Dec-2024

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TERF1 in Genome Data Viewer
    Location:
    8q21.11
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (73008864..73048123)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (73437901..73477172)
    RS_2024_09 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

    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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables G-rich strand telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 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 IDA
    Inferred from Direct Assay
    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 response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    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 telomere maintenance via telomerase IMP
    Inferred from Mutant Phenotype
    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 
    colocalizes_with spindle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in 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)

    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_001410928.1NP_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, A8K914
      Related
      ENSP00000503453.1, ENST00000678860.1
    2. NM_001413364.1NP_001400293.1  telomeric repeat-binding factor 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC022893
      UniProtKB/TrEMBL
      A8K914
    3. NM_001413365.1NP_001400294.1  telomeric repeat-binding factor 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC022893
    4. NM_001413366.1NP_001400295.1  telomeric repeat-binding factor 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC022893
    5. NM_001413367.1NP_001400296.1  telomeric repeat-binding factor 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC022893
    6. NM_001413368.1NP_001400297.1  telomeric repeat-binding factor 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC022893
    7. NM_001413369.1NP_001400298.1  telomeric repeat-binding factor 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC022893
      UniProtKB/TrEMBL
      A0A7I2V5E0
    8. NM_001413370.1NP_001400299.1  telomeric repeat-binding factor 1 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC022893
      UniProtKB/TrEMBL
      A8K914
    9. NM_001413371.1NP_001400300.1  telomeric repeat-binding factor 1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC022893
      UniProtKB/TrEMBL
      A0A7I2V5T5, A8K914
      Related
      ENSP00000504760.1, ENST00000679115.1
    10. NM_001413372.1NP_001400301.1  telomeric repeat-binding factor 1 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC022893
      UniProtKB/TrEMBL
      A8K914
    11. NM_001413373.1NP_001400302.1  telomeric repeat-binding factor 1 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC022893
      UniProtKB/TrEMBL
      A8K914
    12. NM_001413374.1NP_001400303.1  telomeric repeat-binding factor 1 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC022893
      UniProtKB/TrEMBL
      E7EWM7
    13. 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/TrEMBL
      A8K914
      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, ...
    14. 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) 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: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, ...

    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_2024_08

    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)