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Aliases for TEP1 Gene

Aliases for TEP1 Gene

  • Telomerase Associated Protein 1 2 3 5
  • TROVE Domain Family, Member 1 2 3
  • P80 Telomerase Homolog 3 4
  • Telomerase Protein 1 3 4
  • P240 3 4
  • TLP1 3 4
  • TP1 3 4
  • Telomerase-Associated Protein 1 4
  • Telomerase Protein Component 1 3
  • TROVE1 3
  • VAULT2 3

External Ids for TEP1 Gene

Previous GeneCards Identifiers for TEP1 Gene

  • GC14M018206
  • GC14M014623
  • GC14M018826
  • GC14M019903
  • GC14M020833
  • GC14M000955

Summaries for TEP1 Gene

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

GeneCards Summary for TEP1 Gene

TEP1 (Telomerase Associated Protein 1) is a Protein Coding gene. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include RNA binding and telomerase activity. An important paralog of this gene is APAF1.

UniProtKB/Swiss-Prot for TEP1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TEP1 Gene

Genomics for TEP1 Gene

Regulatory Elements for TEP1 Gene

Enhancers for TEP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F020657 1.1 Ensembl ENCODE 39.5 -243.1 -243083 1.1 HDGF PKNOX1 ZNF133 SIN3A GLI4 ZNF2 GTF3C2 GLIS2 KLF7 ZNF548 METTL3 SUPT16H TEP1 CHD8 ENSG00000222489 APEX1 PARP2 TMEM55B ANG SALL2
GH14F020622 1.4 Ensembl ENCODE 31.2 -210.2 -210156 4.4 HDGF MLX ARID4B SIN3A DMAP1 FEZF1 ZNF2 ZNF143 FOS KLF13 METTL3 SUPT16H TEP1 CHD8 ENSG00000222489 ENSG00000258515 PARP2 ANG TMEM55B APEX1
GH14F020341 0.6 ENCODE 27.5 +71.4 71442 3.0 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 APEX1 TEP1 PARP2 TMEM55B ENSG00000258768 ENSG00000222489 ENSG00000258515 METTL17 RPPH1 CCNB1IP1
GH14F020347 0.5 ENCODE 21.2 +66.7 66689 0.8 PAF1 SAP130 ARID4B ZNF384 THRB PPARG RARA GTF3C2 ZGPAT NR2F6 TEP1 APEX1 SNORD126 RNA5SP382 METTL17 ENSG00000254846
GH14F020468 0.2 ENCODE 21 -57.1 -57084 5.9 HDGF MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF143 PNP SUPT16H APEX1 TEP1 CHD8 RNASE10 RNA5SP382 CCNB1IP1 SNORD126 GC14P020476
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TEP1 on UCSC Golden Path with GeneCards custom track

Promoters for TEP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001455822 1545 2201 PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF48 ZNF2 YY1

Genomic Location for TEP1 Gene

Chromosome:
14
Start:
20,365,667 bp from pter
End:
20,414,645 bp from pter
Size:
48,979 bases
Orientation:
Minus strand

Genomic View for TEP1 Gene

Genes around TEP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TEP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TEP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TEP1 Gene

Proteins for TEP1 Gene

  • Protein details for TEP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99973-TEP1_HUMAN
    Recommended name:
    Telomerase protein component 1
    Protein Accession:
    Q99973
    Secondary Accessions:
    • A0AUV9

    Protein attributes for TEP1 Gene

    Size:
    2627 amino acids
    Molecular mass:
    290490 Da
    Quaternary structure:
    • 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).

    Alternative splice isoforms for TEP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TEP1 Gene

Post-translational modifications for TEP1 Gene

  • Ubiquitination at Lys 633
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for TEP1
  • Santa Cruz Biotechnology (SCBT) Antibodies for TEP1

No data available for DME Specific Peptides for TEP1 Gene

Domains & Families for TEP1 Gene

Gene Families for TEP1 Gene

Suggested Antigen Peptide Sequences for TEP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q99973

UniProtKB/Swiss-Prot:

TEP1_HUMAN :
  • Contains 1 NACHT domain.
  • Contains 4 TEP1 N-terminal repeats.
Domain:
  • Contains 1 NACHT domain.
  • Contains 1 TROVE domain.
Similarity:
  • Contains 4 TEP1 N-terminal repeats.
  • Contains 21 WD repeats.
genes like me logo Genes that share domains with TEP1: view

Function for TEP1 Gene

Molecular function for TEP1 Gene

GENATLAS Biochemistry:
telomerase protein component 1
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for TEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002039 p53 binding IPI 10597287
GO:0003720 contributes_to telomerase activity IEA,IDA 12135483
GO:0003723 RNA binding IEA,ISS --
GO:0005524 ATP binding IEA --
GO:0019899 enzyme binding IPI 15169895
genes like me logo Genes that share ontologies with TEP1: view
genes like me logo Genes that share phenotypes with TEP1: view

Animal Models for TEP1 Gene

MGI Knock Outs for TEP1:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TEP1 Gene

Localization for TEP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TEP1 Gene

Nucleus. Chromosome, telomere.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TEP1 Gene COMPARTMENTS Subcellular localization image for TEP1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for TEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IEA --
GO:0005634 nucleus IEA --
GO:0005694 chromosome IEA --
GO:0005697 telomerase holoenzyme complex IDA 12135483
GO:0005737 cytoplasm IDA 7876352
genes like me logo Genes that share ontologies with TEP1: view

Pathways & Interactions for TEP1 Gene

genes like me logo Genes that share pathways with TEP1: view

Pathways by source for TEP1 Gene

1 Qiagen pathway for TEP1 Gene

Gene Ontology (GO) - Biological Process for TEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000722 telomere maintenance via recombination IDA 10810353
GO:0006278 RNA-dependent DNA biosynthetic process IEA --
genes like me logo Genes that share ontologies with TEP1: view

No data available for SIGNOR curated interactions for TEP1 Gene

Drugs & Compounds for TEP1 Gene

(2) Drugs for TEP1 Gene - From: ApexBio and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
BIBR 1532 Pharma Telomerase inhibitor,novel and selective, Selective telomerase inhibitor 0
V934/V935 Pharma 0

(4) Additional Compounds for TEP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for TEP1 Gene

Compound Action Cas Number
BIBR 1532 Telomerase inhibitor,novel and selective 321674-73-1
genes like me logo Genes that share compounds with TEP1: view

Transcripts for TEP1 Gene

Unigene Clusters for TEP1 Gene

Telomerase-associated protein 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TEP1 Gene

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:
SP6:
SP7:
SP8:

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:
SP6:
SP7:
SP8:

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:
SP6: - -
SP7:
SP8:

Relevant External Links for TEP1 Gene

GeneLoc Exon Structure for
TEP1
ECgene alternative splicing isoforms for
TEP1

Expression for TEP1 Gene

mRNA expression in normal human tissues for TEP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TEP1 Gene

This gene is overexpressed in Bone (24.6), Urine (17.1), and Pancreas (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TEP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of TEP1 Gene:

TEP1

SOURCE GeneReport for Unigene cluster for TEP1 Gene:

Hs.508835

mRNA Expression by UniProt/SwissProt for TEP1 Gene:

Q99973-TEP1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with TEP1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for TEP1 Gene

Orthologs for TEP1 Gene

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

Orthologs for TEP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TEP1 34 35
  • 99.15 (n)
cow
(Bos Taurus)
Mammalia TEP1 34 35
  • 84.45 (n)
mouse
(Mus musculus)
Mammalia Tep1 34 16 35
  • 80.1 (n)
rat
(Rattus norvegicus)
Mammalia Tep1 34
  • 79.9 (n)
dog
(Canis familiaris)
Mammalia TEP1 34 35
  • 78.19 (n)
oppossum
(Monodelphis domestica)
Mammalia TEP1 35
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TEP1 35
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TEP1 35
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485265 34
  • 49.45 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-284o19.1 34
  • 49.92 (n)
TEP1 35
  • 24 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1671 35
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y53C12B.1 35
  • 14 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UTP13 35
  • 14 (a)
OneToMany
Species where no ortholog for TEP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TEP1 Gene

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

Paralogs for TEP1 Gene

Paralogs for TEP1 Gene

genes like me logo Genes that share paralogs with TEP1: view

Variants for TEP1 Gene

Sequence variations from dbSNP and Humsavar for TEP1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs10083536 -- 20,408,030(+) CTTGC(A/G)TCATG nc-transcript-variant, reference, missense
rs10130536 -- 20,385,993(+) AGGGT(G/T)TCTGA intron-variant
rs10131170 -- 20,410,719(+) acagg(C/T)gtgag intron-variant
rs10139437 -- 20,371,176(+) GGTCC(C/T)AGACG intron-variant
rs10151816 -- 20,378,570(+) CTGAA(C/G)AGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TEP1 Gene

Variant ID Type Subtype PubMed ID
esv23438 CNV gain+loss 19812545
nsv563846 CNV loss 21841781
nsv952812 CNV deletion 24416366

Variation tolerance for TEP1 Gene

Residual Variation Intolerance Score: 99.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 21.84; 99.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TEP1 Gene

Human Gene Mutation Database (HGMD)
TEP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TEP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TEP1 Gene

Disorders for TEP1 Gene

Relevant External Links for TEP1

Genetic Association Database (GAD)
TEP1
Human Genome Epidemiology (HuGE) Navigator
TEP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TEP1

No disorders were found for TEP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TEP1 Gene

Publications for TEP1 Gene

  1. Polymorphisms in telomere-associated genes, breast cancer susceptibility and prognosis. (PMID: 19766477) Varadi V. … FAPrsti A. (Eur. J. Cancer 2009) 3 22 46 64
  2. Genetic variation in five genes important in telomere biology and risk for breast cancer. (PMID: 17848914) Savage S.A. … Garcia-Closas M. (Br. J. Cancer 2007) 3 22 46 64
  3. Polymerization defects within human telomerase are distinct from telomerase RNA and TEP1 binding. (PMID: 11029039) Beattie T.L. … Harrington L. (Mol. Biol. Cell 2000) 3 4 22 64
  4. Vaults and telomerase share a common subunit, TEP1. (PMID: 10551828) Kickhoefer V.A. … Rome L.H. (J. Biol. Chem. 1999) 3 4 22 64
  5. Comparative gene mapping of the human and mouse TEP1 genes, which encode one protein component of telomerases. (PMID: 9403057) Saito T. … Ishikawa F. (Genomics 1997) 2 3 22 64

Products for TEP1 Gene

Sources for TEP1 Gene

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