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TEP1 Gene

protein-coding   GIFtS: 61
GCID: GC14M020833

Telomerase-Associated Protein 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Telomerase-Associated Protein 11 2 3     Member 11
TP12 3 5     TROVE Domain Family1
Telomerase Protein 12 3     TROVE12
TLP12 3     VAULT22
p2402 3     Telomerase Protein Component 12
P80 Telomerase Homolog2 3     TROVE Domain Family, Member 12

External Ids:    HGNC: 117261   Entrez Gene: 70112   Ensembl: ENSG000001295667   OMIM: 6016865   UniProtKB: Q999733   

Export aliases for TEP1 gene to outside databases

Previous GC identifers: GC14M018206 GC14M014623 GC14M018826 GC14M019903 GC14M000955


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TEP1 Gene:
This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which
catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved
from ciliates to humans. (provided by RefSeq, Jul 2008)

GeneCards Summary for TEP1 Gene:
TEP1 (telomerase-associated protein 1) is a protein-coding gene. GO annotations related to this gene include telomerase activity and RNA binding. An important paralog of this gene is TBL3.

UniProtKB/Swiss-Prot: TEP1_HUMAN, Q99973
Function: Component of the telomerase ribonucleoprotein complex that is essential for the replication of
chromosome termini. Also component of the ribonucleoprotein vaults particle, a multi-subunit structure involved
in nucleo-cytoplasmic transport. Responsible for the localizing and stabilizing vault RNA (vRNA) association in
the vault ribonucleoprotein particle. Binds to TERC (By similarity)

Gene Wiki entry for TEP1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TEP1 gene promoter:
         E2F-3a   E2F-4   Elk-1   E2F-5   AML1a   Pax-5   E2F-2   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTEP1 promoter sequence
   Search Chromatin IP Primers for TEP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TEP1


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

Entrez Gene cytogenetic band: 14q11.2   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.2

TEP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TEP1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M020833:  view genomic region     (about GC identifiers)

Start:
20,833,826 bp from pter      End:
20,881,588 bp from pter
Size:
47,763 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TEP1_HUMAN, Q99973 (See protein sequence)
Recommended Name: Telomerase protein component 1  
Size: 2627 amino acids; 290490 Da
Subunit: Component of the telomerase holoenzyme complex at least composed of TERT, DKC1, WRAP53/TCAB1, NOP10,
NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC). Component of the vault
ribonucleoprotein particle, at least composed of MVP, PARP4 and one or more vault RNAs (vRNAs). Binds to
VAULTRC1, VAULTRC2 and VAULTRC4/hvg4 vRNAs (By similarity)
Secondary accessions: A0AUV9
Alternative splicing: 2 isoforms:  Q99973-1   Q99973-2   (May be due to an exon inclusion)

Explore the universe of human proteins at neXtProt for TEP1: NX_Q99973

Explore proteomics data for TEP1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys633
  • Modification sites at PhosphoSitePlus

  • See TEP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_009041.2  
    ENSEMBL proteins: 
     ENSP00000450475   ENSP00000262715   ENSP00000450541   ENSP00000451634   ENSP00000452574  
     ENSP00000450508   ENSP00000450830   ENSP00000451409   ENSP00000451919   ENSP00000452240  
     ENSP00000438849  

    TEP1 Human Recombinant Protein Products:

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    Novus Biologicals TEP1 Proteins
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TEP1

     
    Search eBioscience for Proteins for TEP1 

    TEP1 Antibody Products:

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    Abcam antibodies for TEP1
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    ThermoFisher Antibodies for TEP1
    LSBio Antibodies in human, mouse, rat for TEP1

    TEP1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for TEP1
    Cloud-Clone Corp. CLIAs for TEP1
    Search eBioscience for ELISAs for TEP1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    Selected InterPro protein domains (see all 9):
     IPR007111 NACHT_NTPase
     IPR008850 TEP1_N
     IPR019775 WD40_repeat_CS
     IPR027417 P-loop_NTPase
     IPR008858 TROVE

    Graphical View of Domain Structure for InterPro Entry Q99973

    ProtoNet protein and cluster: Q99973

    2 Blocks protein domains:
    IPB001680 G-protein beta WD-40 repeat signature
    IPB008858 TROVE


    UniProtKB/Swiss-Prot: TEP1_HUMAN, Q99973
    Similarity: Contains 1 NACHT domain
    Similarity: Contains 4 TEP1 N-terminal repeats
    Similarity: Contains 1 TROVE domain
    Similarity: Contains 21 WD repeats


    Find genes that share domains with TEP1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TEP1_HUMAN, Q99973
    Function: Component of the telomerase ribonucleoprotein complex that is essential for the replication of
    chromosome termini. Also component of the ribonucleoprotein vaults particle, a multi-subunit structure involved
    in nucleo-cytoplasmic transport. Responsible for the localizing and stabilizing vault RNA (vRNA) association in
    the vault ribonucleoprotein particle. Binds to TERC (By similarity)

         Genatlas biochemistry entry for TEP1:
    telomerase protein component 1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003720contributes to telomerase activity IDA12135483
    GO:0003723RNA binding ISS--
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with TEP1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TEP1:
     Increased HPV18 LCR reporter a 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Tep1):
     normal 

    Find genes that share phenotypes with TEP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Tep1tm1Leah for TEP1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TEP1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TEP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TEP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TEP1

    miRNA
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    miRTarBase miRNAs that target TEP1:
    hsa-mir-16-5p (MIRT051249), hsa-mir-484 (MIRT042181)

    Block miRNA regulation of human, mouse, rat TEP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TEP1 (see all 12):
    hsa-miR-148b* hsa-miR-513a-3p hsa-miR-499-3p hsa-miR-554 hsa-miR-624 hsa-miR-628-3p hsa-miR-3155 hsa-miR-484
    SwitchGear 3'UTR luciferase reporter plasmidTEP1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TEP1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: TEP1 (NM_007110)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TEP1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TEP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TEP1_HUMAN, Q99973: Nucleus (Probable). Chromosome, telomere
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000781chromosome, telomeric region IEA--
    GO:0005697telomerase holoenzyme complex IDA12135483
    GO:0005737cytoplasm IDA7876352
    GO:0016363nuclear matrix IDA7876352
    GO:0030529ribonucleoprotein complex TAS15701761

    Find genes that share ontologies with TEP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for TEP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Apoptotic Pathways in Synovial Fibroblasts
    Telomerase Components in Cell Signaling0.72

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for TEP1
        Telomerase Components in Cell Signaling


        Pathway & Disease-focused RT2 Profiler PCR Arrays including TEP1: 
              Cancer PathwayFinder in human mouse rat
              Telomeres & Telomerase in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TEP1

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

    Selected Interacting proteins for TEP1 (Q999733 ENSP000002627154) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046373, ENSP000002693054I2D: score=3 STRING: ENSP00000269305
    TERTO147463, ENSP000003095724I2D: score=2 STRING: ENSP00000309572
    PRKCAP172523, ENSP000002843844I2D: score=2 STRING: ENSP00000284384
    ATN1P542593, ENSP000003490764I2D: score=2 STRING: ENSP00000349076
    CAV1ENSP000003391914STRING: ENSP00000339191
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000722telomere maintenance via recombination IDA10810353
    GO:0006278RNA-dependent DNA replication IDA12135483

    Find genes that share ontologies with TEP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TEP1

    4 Novoseek inferred chemical compound relationships for TEP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tin(2+) 80.2 4 12007281 (2), 11494028 (1), 17616810 (1)
    adpribose 47.2 4 11494028 (1), 18759128 (1), 12007281 (1), 11085454 (1)
    retinoic acid 28.9 2 11777343 (1)
    paraffin 0.753 2 17066600 (1), 8605397 (1)



    Find genes that share compounds with TEP1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TEP1 gene: 
    NM_007110.4  

    Unigene Cluster for TEP1:

    Telomerase-associated protein 1
    Hs.508835  [show with all ESTs]
    Unigene Representative Sequence: NM_007110
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000553365 ENST00000262715(uc010ahj.1 uc010ahk.3 uc001vxe.3 uc010tlf.1 uc010tlg.1)
    ENST00000555008(uc010tlh.1) ENST00000555727 ENST00000556935 ENST00000553984
    ENST00000557314 ENST00000556488 ENST00000471684 ENST00000557627 ENST00000556549
    ENST00000545983
    miRNA
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    Block miRNA regulation of human, mouse, rat TEP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TEP1 (see all 12):
    hsa-miR-148b* hsa-miR-513a-3p hsa-miR-499-3p hsa-miR-554 hsa-miR-624 hsa-miR-628-3p hsa-miR-3155 hsa-miR-484
    SwitchGear 3'UTR luciferase reporter plasmidTEP1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TEP1
    Predesigned siRNA for gene silencing in human, mouse, rat TEP1
    Clone
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    OriGene clones in human, mouse for TEP1 (see all 5)
    OriGene ORF clones in mouse, rat for TEP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TEP1 (NM_007110)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TEP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TEP1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for TEP1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TEP1
      QuantiTect SYBR Green Assays in human, mouse, rat TEP1
      QuantiFast Probe-based Assays in human, mouse, rat TEP1

    Additional mRNA sequence: 

    AB209669.1 AK124360.1 AK303307.1 BC126107.1 BC143812.1 BC143815.1 BX640983.1 U86136.2 

    10 DOTS entries:

    DT.40117791  DT.99991901  DT.97845575  DT.86848766  DT.100659440  DT.92422291  DT.40192344  DT.92050248 
    DT.92009363  DT.95245860 

    Selected AceView cDNA sequences (see all 114):

    NM_007110 BU521152 BQ021178 BM555079 BU543910 AK124360 AI867200 N58857 
    CK823973 BF197089 BM556329 CF147492 BE739840 AA722421 BQ957505 BQ304178 
    BM555913 BM676849 AI476293 BM810250 AI040596 AW054694 CA422831 BM556823 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TEP1 (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39a · 39b ^ 40a · 40b ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^
    SP1:                                                                                                                                                            
    SP2:                                -                                                                                                                           
    SP3:                                                                                                                                                            
    SP4:                                                                                                                    -                                       
    SP5:                                                                                                                                                            

    ExUns: 46 ^ 47 ^ 48 ^ 49a · 49b · 49c ^ 50 ^ 51a · 51b ^ 52 ^ 53 ^ 54a · 54b · 54c ^ 55a · 55b ^ 56a · 56b · 56c ^ 57
    SP1:                                                                                                                        
    SP2:                                                                                      -                                 
    SP3:                                                                    -                                   -     -         
    SP4:                                                                                                                        
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for TEP1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    TEP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACTAGTGCC
    TEP1 Expression
    About this image


    TEP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Testis (Reproductive System)
             Long-time differentiated EBs
     
     Inner Cell Mass (Early Embryonic Tissues)
             ES-J1
    TEP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TEP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.508835

    UniProtKB/Swiss-Prot: TEP1_HUMAN, Q99973
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TEP1: 
              Cancer PathwayFinder in human mouse rat
              Telomeres & Telomerase in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for TEP1
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    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for TEP1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tep11 , 5 telomerase associated protein 11, 5 80.1(n)1
    75.82(a)1
      14 (26.26 cM)5
    217451  NM_009351.21  NP_033377.11 
     932672575 
    lizard
    (Anolis carolinensis)
    Reptilia TEP16
    telomerase-associated protein 1
    39(a)
    1 ↔ 1
    GL343220.1(1075013-1125335)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004852651 telomerase protein component 1-like 49.45(n)
    41.03(a)
      100485265  XM_002934296.2  XP_002934342.2 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-284o19.11 si:ch211-284o19.1 49.92(n)
    41.12(a)
      100321823  XM_002660857.3  XP_002660903.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG16716
    --
    16(a)
    1 → many
    2R(5735566-5738147)
    worm
    (Caenorhabditis elegans)
    Secernentea Y53C12B.16
    Protein Y53C12B.1 (Y53C12B.1) mRNA, complete cds
    14(a)
    1 → many
    II(9742983-9746067) WBGene00013143
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UTP136
    Nucleolar protein, component of the small subunit ...
    14(a)
    1 → many
    XII(579318-581771) YLR222C


    ENSEMBL Gene Tree for TEP1 (if available)
    TreeFam Gene Tree for TEP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TEP1 gene
    TBL32  
    2 SIMAP similar genes for TEP1 using alignment to 12 protein entries:     TEP1_HUMAN (see all proteins):
    GNB5    POC1B

    Find genes that share paralogs with TEP1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TEP1 (see all 1584)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1391509541,2
    C--20833427(+) CTTTC-/TTTTTT 1 -- ds50010--------
    rs17609111,2
    A--20833434(-) aaaagA/Gaaaaa 1 -- ds50010--------
    rs80145151,2
    C,F,H--20833462(+) agtttC/Gattct 1 -- ds50014Minor allele frequency- G:0.03NS EA 416
    rs1909091611,2
    --20833496(+) GATGCA/GATCTC 1 -- ds50010--------
    rs80146441,2
    C--20833515(+) gcaacA/Ctctgc 1 -- ds50010--------
    rs80073771,2
    C--20833525(+) cccccC/Tgagtt 1 -- ds50010--------
    rs80188161,2
    C--20833526(+) cccctA/Gagttc 1 -- ds50010--------
    rs1917843391,2
    --20833625(+) GACGGG/TGTTTC 1 -- ds50010--------
    rs1444034211,2
    --20833653(+) CGCCTC/TGAACT 1 -- ds50010--------
    rs80189741,2
    C,F,H--20833654(+) gcctcG/Aaactc 1 -- ds50015Minor allele frequency- A:0.04NS EA WA 534

    HapMap Linkage Disequilibrium report for TEP1 (20833826 - 20881588 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TEP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv23438CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): TEP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TEP1
    DNA2.0 Custom Variant and Variant Library Synthesis for TEP1

    (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.)
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    OMIM gene information: 601686    OMIM disorders: --


    Find genes that share disorders with TEP1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for TEP1 gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 33.6 6 11494028 (1), 9935231 (1), 12943625 (1), 12970299 (1) (see all 6)
    endometrial hyperplasia 33.5 1 11820598 (1)
    cancer 33.3 9 9537264 (2), 14621192 (1), 9676833 (1), 10568811 (1) (see all 8)
    gastric carcinoma 30.7 3 11494028 (1), 12007281 (1), 9914776 (1)
    gastric cancer 30.5 3 11343177 (1), 16696344 (1)
    carcinoma squamous cell 25.4 6 8425208 (1), 11167139 (1), 15112252 (1), 10568811 (1) (see all 5)
    leukemia 25.3 3 9753073 (1), 15165114 (1), 11877056 (1)
    benign tumor 22.6 1 12440093 (1)
    glioblastoma 20.4 2 9874800 (1), 17196947 (1)
    acute leukemia 18.9 1 11877056 (1)

    Genetic Association Database (GAD): TEP1
    Human Genome Epidemiology (HuGE) Navigator: TEP1 (95 documents)

    Export disorders for TEP1 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)
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    PubMed articles for TEP1 gene, integrated from 10 sources (see all 134):
    (articles sorted by number of sources associating them with TEP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Comparative gene mapping of the human and mouse TEP1 genes, which encode one protein component of telomerases. (PubMed id 9403057)1, 3, 9 Saito T....Ishikawa F. (Genomics 1997)
    2. Vaults and telomerase share a common subunit, TEP1. (PubMed id 10551828)1, 2, 9 Kickhoefer V.A....Rome L.H. (J. Biol. Chem. 1999)
    3. A mammalian telomerase-associated protein. (PubMed id 9020079)1, 2, 9 Harrington L.... Robinson M.O. (Science 1997)
    4. Polymerization defects within human telomerase are distinct from telomerase RNA and TEP1 binding. (PubMed id 11029039)1, 2, 9 Beattie T.L.... Harrington L. (Mol. Biol. Cell 2000)
    5. Polymorphisms in telomere-associated genes, breast cancer susceptibility and prognosis. (PubMed id 19766477)1, 4, 9 Varadi V....FAPrsti A. (Eur. J. Cancer 2009)
    6. Genetic variation in five genes important in telomere biology and risk for breast cancer. (PubMed id 17848914)1, 4, 9 Savage S.A....Garcia-Closas M. (Br. J. Cancer 2007)
    7. Genetic variants in eleven telomere-associated genes and the risk of incident cardio/cerebrovascular disease: The Women's Genome Health Study. (PubMed id 20937264)1, 4 Zee R.Y....Chasman D.I. ( international journal of clinical chemistry 2011)
    8. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    9. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 7011 HGNC: 11726 AceView: TEP1 Ensembl:ENSG00000129566 euGenes: HUgn7011
    ECgene: TEP1 H-InvDB: TEP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TEP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TEP1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TEP1 gene:
    Search GeneIP for patents involving TEP1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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