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

TEP1 Gene

protein-coding   GIFtS: 60
GCID: GC14M020833

Telomerase-Associated Protein 1

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

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. Diseases associated with TEP1 include macrocephaly/autism syndrome, and bannayan-riley-ruvalcaba syndrome, and among its related super-pathways are Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include telomerase activity and RNA binding. An important paralog of this gene is NLE1.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TEP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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)
Subcellular location: Nucleus (Probable). Chromosome, telomere
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99973

  • TEP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TEP1 Protein Expression
    REFSEQ proteins: NP_009041.2  
    ENSEMBL proteins: 
     ENSP00000450475   ENSP00000262715   ENSP00000450541   ENSP00000451634   ENSP00000452574  
     ENSP00000450508   ENSP00000450830   ENSP00000451409   ENSP00000451919   ENSP00000452240  
     ENSP00000438849  

    Human Recombinant Protein Products for TEP1: 
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    Novus Biologicals TEP1 Proteins
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TEP1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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

    TEP1 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for TEP1 

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    Cloud-Clone Corp. CLIAs for TEP1


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

    5/9 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


    TEP1 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: 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 (GO ID links to tree view):    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--
         
    TEP1 for ontologies           About GeneDecksing


    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 

    TEP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tep1tm1Leah for TEP1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TEP1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    8/12 QIAGEN miScript miRNA 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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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TEP1


    (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 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 QIAGEN Pathway Central Maps for TEP1
        Telomerase Components in Cell Signaling


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TEP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/8 Interacting proteins for TEP1 (Q999733 ENSP000002627154) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    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): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000722telomere maintenance via recombination IDA10810353

    TEP1 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

    TEP1 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about TEP1

    (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 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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    8/12 QIAGEN miScript miRNA 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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    Clone
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    GenScript: all cDNA clones in your preferred vector: TEP1 (NM_007110)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TEP1
    Primer
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      QIAGEN 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 

    24/114 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

    5/8 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™, 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

    TEP1 expression in normal human tissues (normalized intensities)      TEP1 embryonic expression: see
    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 
     5/2 selected tissues (see all 2) fully expand
     
     Intestine (Gastrointestinal Tract)
             small intestine   
     
     Inner Cell Mass (Early Embryonic Tissues)
             ES-J1

     -- (Integumentary System)
             SKIN   

    See TEP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TEP1

    SOURCE GeneReport for Unigene cluster: Hs.508835

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including TEP1: 
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              Telomeres & Telomerase in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for TEP1 gene from 6/12 species (see all 12)    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
    40(a)
    1 ↔ 1
    GL343220.1(1075013-1125335)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-284o19.11 si:ch211-284o19.1 48.26(n)
    39.87(a)
      100321823  XM_002660857.2  XP_002660903.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG16716
    --
    16(a)
    1 → many
    2R(5735566-5738147)
    worm
    (Caenorhabditis elegans)
    Secernentea Y53C12B.16
    Protein Y53C12B.1
    15(a)
    1 → many
    II(9742983-9746067)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UTP136
    Nucleolar protein, component of the small subunit ...
    13(a)
    1 → many
    XII(579318-581771)


    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)
    About This Section
    Paralogs for TEP1 gene
    NLE12  APAF12  
    2 SIMAP similar genes for TEP1 using alignment to 12 protein entries:     TEP1_HUMAN (see all proteins):
    GNB5    POC1B

    TEP1 for paralogs           About GeneDecksing



    (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

    10/1584 SNPs in TEP1 are shown (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
    ----------
    VAR_0476354
    ----see VAR_0476352 A G mis40--------
    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--------

    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
    SABiosciences Cancer Mutation PCR Assays
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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: 601686    OMIM disorders: --

    20/38 diseases for TEP1 (see all 38):    About MalaCards
    macrocephaly/autism syndrome    bannayan-riley-ruvalcaba syndrome    vacterl association with hydrocephalus    cowden disease
    pten hamartoma tumor syndrome    ruvalcaba syndrome    benign tumors    cerebrovascular disease
    keratosis    ulcerative colitis    glioblastoma    pituitary adenoma
    pheochromocytoma    oral squamous cell carcinoma    nasopharyngitis    squamous cell carcinoma
    malignant glioma    hepatocellular carcinoma    esophageal squamous cell carcinoma    gastric cancer


    TEP1 for disorders           About GeneDecksing

    10/23 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)
    About This Section

    PubMed articles for TEP1 gene, integrated from 9 sources (see all 133):
    (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. (1997)
    2. Vaults and telomerase share a common subunit, TEP1. (PubMed id 10551828)1, 2, 9 Kickhoefer V.A....Rome L.H. (1999)
    3. A mammalian telomerase-associated protein. (PubMed id 9020079)1, 2, 9 Harrington L.... Robinson M.O. (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. (2000)
    5. Polymorphisms in telomere-associated genes, breast ca ncer susceptibility and prognosis. (PubMed id 19766477)1, 4, 9 Varadi V....FAPrsti A. (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. (2007)
    7. Genetic variants in eleven telomere-associated genes and the risk of incident cardio/cerebrovascular disease: The Women's Genome Hea lth Study. (PubMed id 20937264)1, 4 Zee R.Y....Chasman D.I. (2011)
    8. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)
    9. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)

    (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: 7011 HGNC: 11726 AceView: TEP1 Ensembl:ENSG00000129566 euGenes: HUgn7011
    ECgene: TEP1 H-InvDB: TEP1

    (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 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.)
    About This Section
    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



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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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