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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TERF1 Gene

protein-coding   GIFtS: 65
GCID: GC08P073921

Telomeric Repeat Binding Factor (NIMA-Interacting) 1


(Previous symbol: TRBF1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Telomeric Repeat Binding Factor (NIMA-Interacting) 11 2     NIMA-Interacting Protein 22 3
TRBF11 2 3     TTAGGG Repeat-Binding Factor 12 3
TRF12 3 5     hTRF1-AS2
Telomeric Protein Pin2/TRF12 3     t-TRF12
PIN22 3     Telomeric Repeat-Binding Factor 12
TRF2 3     

External Ids:    HGNC: 117281   Entrez Gene: 70132   Ensembl: ENSG000001476017   OMIM: 6009515   UniProtKB: P542743   

Export aliases for TERF1 gene to outside databases

Previous GC identifers: GC08P073003 GC08P073861 GC08P073644 GC08P073971 GC08P074083 GC08P069411


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TERF1 Gene:
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)

GeneCards Summary for TERF1 Gene: 
TERF1 (telomeric repeat binding factor (NIMA-interacting) 1) is a protein-coding gene. Diseases associated with TERF1 include townes-brocks syndrome, and anaplastic astrocytoma, and among its related super-pathways are Meiotic Synapsis and Telomere Maintenance. GO annotations related to this gene include chromatin binding and protein homodimerization activity. An important paralog of this gene is TERF2.

UniProtKB/Swiss-Prot: TERF1_HUMAN, P54274
Function: Binds the telomeric double-stranded TTAGGG repeat and negatively regulates telomere length. Involved in
the regulation of the mitotic spindle. Component of the shelterin complex (telosome) that is involved in the
regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats
added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden
from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways

Gene Wiki entry for TERF1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008183.19  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TERF1 gene promoter:
         HNF-3beta   CBF-C   POU2F1   CBF-A   CBF-B   POU2F1a   CP1A   CP1C   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTERF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TERF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TERF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q21.11   Ensembl cytogenetic band:  8q21.11   HGNC cytogenetic band: 8q21.11

TERF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TERF1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P073921:  view genomic region     (about GC identifiers)

Start:
73,921,097 bp from pter      End:
73,960,357 bp from pter
Size:
39,261 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TERF1_HUMAN, P54274 (See protein sequence)
Recommended Name: Telomeric repeat-binding factor 1  
Size: 439 amino acids; 50246 Da
Subunit: Homodimer; can contain both isoforms. Found in a complex with POT1; TINF2 and TNKS1. Interacts with ATM,
TINF2, TNKS1, TNKS2, PINX1, NEK2 and MAPRE1. Component of the shelterin complex (telosome) composed of TERF1,
TERF2, TINF2, TERF2IP ACD and POT1. Interacts with RLIM (via N-terminus). Interacts with FBXO4. Interaction with
TINF2 protects against interaction with FBXO4 and subsequent polyubiquitination and proteasomal degradation.
Interacts with GNL3L; this interaction promotes homodimerization. Interacts with TIN2. Interactions with GNL3L
and TIN2 are mutually exclusive (By similarity)
Subcellular location: Nucleus. Cytoplasm, cytoskeleton, spindle. Chromosome, telomere. Note=Colocalizes with
telomeric DNA in interphase and prophase cells. Telomeric localization decreases in metaphase, anaphase and
telophase. Associates with the mitotic spindle
6/7 PDB 3D structures from and Proteopedia for TERF1 (see all 7):
1BA5 (3D)        1H6O (3D)        1ITY (3D)        1IV6 (3D)        1W0T (3D)        3BQO (3D)    
Secondary accessions: A7XP29 Q15553 Q8NHT6 Q93029
Alternative splicing: 2 isoforms:  P54274-1   P54274-2   

Explore the universe of human proteins at neXtProt for TERF1: NX_P54274

Explore proteomics data for TERF1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated preferentially on Ser-219 in an ATM-dependent manner in response to ionizing DNA damage
  • UniProtKB: ADP-ribosylation by TNKS1 or TNKS2 diminishes its ability to bind to telomeric DNA
  • UniProtKB: Ubiquitinated by RLIM/RNF12, leading to its degradation by the proteasome. Ubiquitinated by a SCF (SKP1-CUL1-F-box
    protein) ubiquitin-protein ligase complex, leading to its degradation by the proteasome
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P54274

  • TERF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TERF1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_003209.2  NP_059523.2  

    ENSEMBL proteins: 
     ENSP00000276603   ENSP00000276602   ENSP00000428838   ENSP00000430121  
    Reactome Protein details: P54274
    Human Recombinant Protein Products for TERF1: 
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    Novus Biologicals TERF1 Proteins
    Novus Biologicals TERF1 Lysates
    Sino Biological Recombinant Protein for TERF1
    Sino Biological Cell Lysate for TERF1 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TERF1 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000781chromosome, telomeric region IDA11313893
    GO:0000783nuclear telomere cap complex ISS7502076
    GO:0000784nuclear chromosome, telomeric region ----
    GO:0005634nucleus NAS7502076
    GO:0005654nucleoplasm TAS--

    TERF1 for ontologies           About GeneDecksing



    TERF1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of TERF1
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    Novus Biologicals TERF1 Antibodies
    Abcam antibodies for TERF1
    Cloud-Clone Corp. Antibodies for TERF1 
    ThermoFisher Antibody for TERF1
    LSBio Antibodies in human, mouse, rat for TERF1 

    Assay Products for TERF1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for TERF1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TERF1 
    Cloud-Clone Corp. CLIAs for TERF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR017357 Telomere_repeat-bd-1/2
     IPR013867 Telomere_rpt-bd_fac_dimer_dom
     IPR001005 SANT/Myb
     IPR009057 Homeodomain-like
     IPR017930 Myb_dom

    Graphical View of Domain Structure for InterPro Entry P54274

    ProtoNet protein and cluster: P54274

    1 Blocks protein domain: IPB013867 Telomere repeat binding factor

    UniProtKB/Swiss-Prot: TERF1_HUMAN, P54274
    Domain: The acidic N-terminal domain binds to the ankyrin repeats of TNKS1 and TNKS2. The C-terminal domain binds
    microtubules
    Domain: The TRFH dimerization region mediates the interaction with TINF2
    Domain: The HTH domain is an independent structural unit and mediates binding to telomeric DNA
    Similarity: Contains 1 HTH myb-type DNA-binding domain


    TERF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TERF1_HUMAN, P54274
    Function: Binds the telomeric double-stranded TTAGGG repeat and negatively regulates telomere length. Involved in
    the regulation of the mitotic spindle. Component of the shelterin complex (telosome) that is involved in the
    regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats
    added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden
    from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways
    Induction: Expression is tightly regulated during the cell cycle; levels are low in G1 and S phase and increase
    during G2 phase and mitosis

         Genatlas biochemistry entry for TERF1:
    TTAGGG repeats binding factor 1,telomeric Myb-related protein,56kDa,suppressor of telomere elongation,involved in
    the feedback mechanism that stabilizes telomer lenght,ubiquitous

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS7502076
    GO:0003682chromatin binding IEA--
    GO:0003691double-stranded telomeric DNA binding IDA12768206
    GO:0005515protein binding IPI11375976
    GO:0008017microtubule binding IDA11943150
         
    TERF1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TERF1:
     Increased cell death in HCC-19 

         14 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Terf1):
     cellular  craniofacial  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size  homeostasis/metabolism  immune system  integument  mortality/aging 
     no phenotypic analysis  normal  pigmentation  tumorigenesis 

    TERF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TERF1: Terf1tm2.2Tdl Terf1tm1Tdl

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TERF1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TERF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TERF1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TERF1 

    miRNA
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    miRTarBase miRNAs that target TERF1:
    hsa-mir-346 (MIRT004234)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TERF1
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate TERF1:
    hsa-miR-873 hsa-miR-186 hsa-miR-155 hsa-miR-3919 hsa-miR-3065-5p hsa-miR-1245 hsa-miR-491-3p hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidTERF1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TERF1
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of TERF1

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): TERF1 (NM_003218)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TERF1
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                         Customized lentivirus expression plasmids for stable overexpression of TERF1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TERF1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TERF1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Meiotic Synapsis
    Meiotic Synapsis0.70
    Chromosome Maintenance0.56
    Meiosis0.70
    2Packaging Of Telomere Ends
    Packaging Of Telomere Ends0.56
    Telomere Maintenance0.56
    3DNA Damage
    DNA Damage0.32
    Cell Cycle / Checkpoint Control0.32
    4Cell Cycle
    Cell Cycle0.84
    5Apoptotic Pathways in Synovial Fibroblasts
    Telomerase Components in Cell Signaling0.72

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TERF1
        Telomerase Components in Cell Signaling
    Telomere Extension by Telomerase

    2 Cell Signaling Technology (CST) Pathways for TERF1
        Cell Cycle / Checkpoint Control
    DNA Damage

    1 BioSystems Pathway for TERF1
        Regulation of Telomerase


    5/6        Reactome Pathways for TERF1 (see all 6)
        Telomere Maintenance
    Meiotic Synapsis
    Packaging Of Telomere Ends
    Cell Cycle
    Meiosis



    TERF1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TERF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/323 Interacting proteins for TERF1 (P542741, 2, 3 ENSP000002766034) via UniProtKB, MINT, STRING, and/or I2D (see all 323)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPRE1Q156911, 2, 3, ENSP000003647214EBI-710997,EBI-1004115 MINT-13642 MINT-17741 MINT-17739 MINT-17740 I2D: score=5 STRING: ENSP00000364721
    TNKSO952712, 3, ENSP000003115794MINT-7987677 MINT-7987977 MINT-7987689 I2D: score=5 STRING: ENSP00000311579
    PINX1Q96BK52, 3MINT-16745 MINT-16744 MINT-16746 MINT-16743 I2D: score=4 
    ATMQ133151, 3, ENSP000002786164EBI-711018,EBI-495465 I2D: score=4 STRING: ENSP00000278616
    SMAD9O151982, 3MINT-62074 MINT-61939 I2D: score=4 
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle IEP9391075
    GO:0000723telomere maintenance TAS--
    GO:0001309age-dependent telomere shortening IDA9034193
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process IDA11313893
    GO:0007004telomere maintenance via telomerase NAS7502076

    TERF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TERF1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TERF1

    6 Novoseek inferred chemical compound relationships for TERF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tin(2+) 98 84 15316005 (6), 15133513 (6), 12530079 (5), 12835755 (5) (see all 29)
    nocodazole 34 3 18625707 (1)
    adpribose 19.6 2 11494028 (1), 12007281 (1)
    arsenite 12.8 3 15904916 (2), 16129045 (1)
    retinoic acid 7.17 2 16207594 (1)
    oligonucleotide 0 2 11971978 (1)

    Search CenterWatch for drugs/clinical trials and news about TERF1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TERF1 gene (2 alternative transcripts): 
    NM_003218.3  NM_017489.2  

    Unigene Cluster for TERF1:

    Telomeric repeat binding factor (NIMA-interacting) 1
    Hs.442707  [show with all ESTs]
    Unigene Representative Sequence: AK128828
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000276603(uc003xzc.2) ENST00000276602(uc003xzd.2 uc003xze.2)
    ENST00000518874 ENST00000518695 ENST00000517390 ENST00000522018 ENST00000518961
    ENST00000520783
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    hsa-miR-873 hsa-miR-186 hsa-miR-155 hsa-miR-3919 hsa-miR-3065-5p hsa-miR-1245 hsa-miR-491-3p hsa-miR-340
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TERF1

    Additional mRNA sequence: 

    AF003001.1 AK123410.1 AK128828.1 AK292529.1 AY576778.1 BC014646.1 BC029378.1 BC071975.1 
    U40705.1 U74382.1 X93511.1 

    15 DOTS entries:

    DT.451568  DT.100027899  DT.100783648  DT.97858429  DT.120642955  DT.92436075  DT.121288595  DT.95121856 
    DT.100027898  DT.100643929  DT.100738776  DT.120642960  DT.97858430  DT.121302670  DT.454756 

    24/270 AceView cDNA sequences (see all 270):

    BF064258 AW513176 BM263416 BQ420855 BM848194 F10853 BC014646 CB068598 
    BF002639 AW001781 CA417237 CB215792 BU676230 CB132026 BE463840 BE670931 
    BG618982 BQ957155 AI522188 AW088675 BU152690 AU126988 AU077148 BC071975 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TERF1 expression in normal human tissues (normalized intensities)      TERF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAACCCAGCA
    TERF1 Expression
    About this image


    TERF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             Line H1 (WA01)

    See TERF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TERF1

    SOURCE GeneReport for Unigene cluster: Hs.442707

    UniProtKB/Swiss-Prot: TERF1_HUMAN, P54274
    Tissue specificity: Highly expressed and ubiquitous. Isoform Pin2 predominates

        SABiosciences Expression via Pathway-Focused PCR Arrays including TERF1: 
              Cell Cycle in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Telomeres & Telomerase in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TERF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for TERF1 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Terf11 , 5 telomeric repeat binding factor 11, 5 77.01(n)1
    67.54(a)1
      1 (4.88 cM)5
    217491  NM_009352.21  NP_033378.11 
     1107682065 
    chicken
    (Gallus gallus)
    Aves TERF11 telomeric repeat binding factor (NIMA-interacting) more 59.88(n)
    46.8(a)
      378896  NM_204380.2  NP_989711.2 
    lizard
    (Anolis carolinensis)
    Reptilia TERF16
    Uncharacterized protein
    35(a)
    1 ↔ 1
    4(33372521-33393409)
    African clawed frog
    (Xenopus laevis)
    Amphibia BG552350.12   -- 73.74(n)    BG552350.1 
    zebrafish
    (Danio rerio)
    Actinopterygii terf11 telomeric repeat binding factor (NIMA-interacting) more 46.65(n)
    33.33(a)
      566954  XM_690237.4  XP_695329.4 


    ENSEMBL Gene Tree for TERF1 (if available)
    TreeFam Gene Tree for TERF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TERF1 gene
    TERF22  
    1 SIMAP similar gene for TERF1 using alignment to 3 protein entries:     TERF1_HUMAN (see all proteins):
    TERF2

    TERF1 for paralogs           About GeneDecksing


    5/8 Pseudogenes.org Pseudogenes for TERF1 (see all 8)
    PGOHUM00000248500 PGOHUM00000234857 PGOHUM00000259251 PGOHUM00000239134 PGOHUM00000240460


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/897 SNPs in TERF1 are shown (see all 897)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs113369241,2
    C--69410384(+) TTTTT-/T/T   
      T
    /TTTT
    GAGAC
    2 -- us2k1 trp31NA 2
    rs354422231,2
    C--69417385(+) AAAAA-/A/A   
       A
    /AAA
    CATAG
    4 -- int1 cds11NA 2
    rs559054031,2
    C,F--69429768(+) ATTTTT/ATTTTT 2 -- int16Minor allele frequency- A:0.04NS WA 176
    rs348946161,2
    C--69432713(+) CTCCG-/AGCCTG
            
    GTGAC
    2 -- cds10--------
    rs712679271,2
    C--69443140(+) TTTTT-/T/TTT 
            
    GACAA
    4 -- int1 cds11NA 2
    rs58923841,2
    C--73919485(+) AACTC-/T/TT  
            
    TTTTT
    2 -- us2k11CSA 2
    rs348132031,2
    C--73924057(+) TTTGA-/TTTTTT 2 -- int12Minor allele frequency- T:0.00NA CSA 4
    rs360132211,2
    C--73926479(+) TTATT-/A/AA  
            
    AAAAA
    2 -- int11CSA 2
    rs58923871,2
    C,F--73927548(+) TTTGCT/-TTTTT 2 -- int1 trp33Minor allele frequency- -:0.50NA 6
    rs719499361,2
    C--73929942(+) TTTCT-/TTTTTT 2 -- int10--------

    HapMap Linkage Disequilibrium report for TERF1 (73921097 - 73960357 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TERF1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2737154CNV Deletion23290073
    esv996705CNV Insertion20482838
    nsv831354CNV Gain17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600951    OMIM disorders: --

    20/37 diseases for TERF1 (see all 37):    About MalaCards
    townes-brocks syndrome    anaplastic astrocytoma    nijmegen breakage syndrome    dyskeratosis congenita
    kidney cancer    acute leukemia    aplastic anemia    cerebrovascular disease
    laryngeal carcinoma    astrocytoma    duchenne muscular dystrophy    adult t-cell leukemia
    acute promyelocytic leukemia    meningioma    ataxia telangiectasia    fanconi's anemia
    laryngitis    anemia    gastric cancer    t-cell leukemia

    2 diseases from the University of Copenhagen DISEASES database for TERF1:
    Dyskeratosis congenita     Cancer

    TERF1 for disorders           About GeneDecksing

    10/18 Novoseek inferred disease relationships for TERF1 gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    promyelocytic leukemia 47.1 4 19487455 (1)
    acute leukemia 36.6 18 11179492 (3), 16421973 (3), 17096876 (3), 15586404 (2) (see all 6)
    cancer 31.1 14 11927006 (2), 15586405 (2), 16353195 (2), 12148588 (1) (see all 10)
    anaplastic astrocytoma 22.2 2 11466501 (1), 11501837 (1)
    nsclc 21.9 5 17681636 (1), 12943625 (1), 19746267 (1), 17020976 (1) (see all 5)
    tumors 15.3 26 12943625 (3), 16388518 (3), 16437597 (3), 10948327 (2) (see all 13)
    gastric cancer 3.56 4 12530079 (2), 12148588 (1)
    brain tumors 2.91 12 11466501 (4), 11501837 (4), 15792519 (2)
    gastric carcinoma 0.203 5 12007281 (3), 11494028 (2)
    leukemia 0 1 15586404 (1)

    Genetic Association Database (GAD): TERF1
    Human Genome Epidemiology (HuGE) Navigator: TERF1 (14 documents)

    Export disorders for TERF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TERF1 gene, integrated from 9 sources (see all 244):
    (articles sorted by number of sources associating them with TERF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization and cell cycle regulation of the related human telomeric proteins Pin2 and TRF1 suggest a role in mitosis. (PubMed id 9391075)1, 2, 3, 9 Shen M.... Lu K.P. (1997)
    2. TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres. (PubMed id 15316005)1, 2, 9 Ye J.Z.-S.... de Lange T. (2004)
    3. Human telomeres contain two distinct Myb-related proteins, TRF1 and TRF2. (PubMed id 9326950)1, 2, 9 Broccoli D.... de Lange T. (1997)
    4. Ubiquitin ligase RLIM modulates telomere length homeostasis through a proteolysis of TRF1. (PubMed id 19164295)1, 2, 9 Her Y.R. and Chung I.K. (2009)
    5. Telomeric protein Pin2/TRF1 as an important ATM target in response to double strand DNA breaks. (PubMed id 11375976)1, 2, 9 Kishi S.... Lu K.P. (2001)
    6. GNL3L stabilizes the TRF1 complex and promotes mitoti c transition. (PubMed id 19487455)1, 2, 9 Zhu Q....Tsai R.Y. (2009)
    7. Solution structure of a telomeric DNA complex of human TRF1. (PubMed id 11738049)1, 2, 9 Nishikawa T....Nishimura Y. (2001)
    8. Structural basis of selective ubiquitination of TRF1 by SCFFbx4. (PubMed id 20159592)1, 2, 9 Zeng Z....Lei M. (2010)
    9. Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins. (PubMed id 15383534)1, 2, 9 Liu D.... Songyang Z. (2004)
    10. The telobox, a Myb-related telomeric DNA binding motif found in proteins from yeast, plants and human. (PubMed id 8614633)1, 2, 9 Bilaud T.... Gilson E. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7013 HGNC: 11728 AceView: TERF1 Ensembl:ENSG00000147601 euGenes: HUgn7013
    ECgene: TERF1 H-InvDB: TERF1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TERF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TERF1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS SNPshttp://egp.gs.washington.edu/data/terf1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TERF1 gene:
    Search GeneIP for patents involving TERF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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