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

TERF1 Gene

protein-coding   GIFtS: 63
GCID: GC08P073921

telomeric repeat binding factor (NIMA-interacting) 1


(Previous symbol: TRBF1)
 Explore 39 diseases affiliated with
TERF1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TERF1    

Aliases
for TERF1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Telomeric Repeat Binding Factor (NIMA-Interacting) 11 2     NIMA-Interacting Protein 22 3
TRF11 2 3 5     TTAGGG Repeat-Binding Factor 12 3
PIN21 2 3     HTRF1-AS1
TRBF11 2 3     T-TRF11
TRF1 2 3     Telomeric Repeat-Binding Factor 12
Telomeric Protein Pin2/TRF12 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


Summaries
for TERF1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_008183.19  
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 plasmid: TERF1 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

Proteins
for TERF1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • Phosphorylated preferentially on Ser-219 in an ATM-dependent manner in response to ionizing DNA damage1
  • ADP-ribosylation by TNKS1 or TNKS2 diminishes its ability to bind to telomeric DNA1
  • 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 proteasome1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P54274

    • TERF1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    OriGene Protein Over-expression Lysate (see all 3): TERF1
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    Novus Biologicals TERF1 Proteins
    Novus Biologicals TERF1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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 IDA15380063
    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: 
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    Uscn ELISAs and CLIAs for TERF1

    Protein Domains /
    Families
    for TERF1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TERF1 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 family: 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


    Function
    for TERF1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    hsa-mir-346 (MIRT004234)

    OriGene 3'-UTR Clone (see all 2): TERF1
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    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 plasmid: TERF1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TERF1 (see all 7)
    OriGene shRNA RFP: TERF1
    OriGene siRNA: TERF1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TERF1

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TERF1 (see all 4)
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    GenScript: all cDNA clones in your preferred vector (see all 2): TERF1 (NM_003218)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TERF1 

    Cell Line
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    Search LifeMap BioReagents cell lines for TERF1

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

    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 IDA15608617
    GO:0005515protein binding IPI16275645
    GO:0008017microtubule binding IDA11943150


    TERF1 for ontologies           About GeneDecksing


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

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


    Pathways & Interactions
    for TERF1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Meiotic Synapsis
    		Meiotic Synapsis1.00
    		Chromosome Maintenance0.56
    		Telomere clustering at the nuclear membrane0.82
    		Packaging Of Telomere Ends0.54
    		Meiosis0.70
    		Telomere Maintenance0.38
    2DNA Damage
    		DNA Damage1.00
    3Cell Cycle / Checkpoint Control
    		Cell Cycle / Checkpoint Control1.00
    4Cell Cycle
    		Cell Cycle1.00
    5Telomere Extension by Telomerase
    		Telomere Extension by Telomerase1.00

    Pathway sources
    See GeneCards unified pathways
    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

    5/7        Reactome Pathways for TERF1 (see all 7)
        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)

    5/315 Interacting proteins for TERF1 (P542741, 2, 3 ENSP000002766034) via UniProtKB, MINT, STRING, and/or I2D (see all 315)
    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-1059333 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:0006917induction of apoptosis IDA11313893
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process IDA11313893


    TERF1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TERF1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for TERF1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
    SwitchGear 3'UTR luciferase reporter plasmid: TERF1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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):

    AU106954 AI825273 BE280550 BM263416 BF056993 CD676071 BF111019 CA417237 
    AI912596 CB068598 BF064258 BF435260 F10853 BQ957155 BM477070 AA953559 
    AI769839 BC071975 BQ775936 AI583680 BQ010209 BE218540 BG618982 CB215792 

    GeneLoc Exon Structure


    Expression
    for TERF1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAACCCAGCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TERF1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    Line H1 (WA01) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    CyT49 (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TERF1
    In Situ
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    Orthologs
    for TERF1 gene

    (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 5/11 species (see all 11)    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
    		 --
    		 36(a)
    		 1 ↔ 1
    		 4(33372536-33390355)
    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
    for TERF1 gene

    (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


    Genomic Variants
    for TERF1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/749 NCBI SNPs in TERF1 are shown (see all 749)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs790889071,2
    		C,--69409989(+) GAGAAA/GACAAA 2 -- us2k13Minor allele frequency- G:0.09CSA WA EA 240
    rs559225251,2
    		C,F,--69410104(+) GGACAA/GTTAGA 2 -- us2k16Minor allele frequency- G:0.03NS WA 188
    rs560999461,2
    		F--69410362(+) CGTTTT/AAAACT 2 -- us2k15Minor allele frequency- A:0.12NS 186
    rs340620581,2
    		C,F,H,--69410656(+) ACTGCG/ACCCGG 2 -- us2k16Minor allele frequency- A:0.07NS NA 660
    rs132578081,2
    		C,H--69410869(+) TAAAGA/CCAATA 2 -- us2k14Minor allele frequency- C:0.00NS EA 410
    rs132578171,2
    		C,H--69410875(+) CAATAA/CCAAGA 2 -- us2k15Minor allele frequency- C:0.00NS EA NA 388
    rs557093641,2
    		C,F,--69410901(+) GGAAAG/AGCTTT 2 -- us2k16Minor allele frequency- A:0.03NS WA 294
    rs559195891,2
    		F--69411156(+) CAAAGG/AAAAAA 2 -- us2k15Minor allele frequency- A:0.02NS 182
    rs350880971,2
    		C,F--69411164(+) AAAAAA/CAAAAC 2 -- us2k15Minor allele frequency- C:0.02NS 182
    rs756151821,2
    		--69411274(+) ACAAAA/CTGCAT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for TERF1 (73921097 - 73960357 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TERF1: --

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    Disorders / Diseases
    for TERF1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TERF1 for disorders           About GeneDecksing

    OMIM gene information: 600951    OMIM disorders: --

    20/39 diseases for TERF1 (see all 39):    About MalaCards
    townes-brocks syndrome    monoclonal gammopathy of undetermined significance    nijmegen breakage syndrome    dyskeratosis congenita
    anaplastic astrocytoma    intraepithelial neoplasm    acute promyelocytic leukemia    aplastic anemia
    adult t-cell leukemia    ataxia telangiectasia    chronic lymphocytic leukemia    lymphoblastic leukemia
    dyskeratosis    fanconi's anemia    lymphocytic leukemia    leukemia
    acute leukemia    squamous cell carcinoma    cerebrovascular disease    astrocytoma

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

    10/18 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: TERF1 (14 documents)

    Export disorders for TERF1 gene to outside databases

    Publications
    for TERF1 gene

    (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 239):
    (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)

    External Searches for TERF1 gene

    (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)

    Genome Databases showing TERF1 gene

    (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

    Other Databases showing TERF1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TERF1 gene

    (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/

    Intellectual Property
    for TERF1 gene

    (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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