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TEP1 telomerase associated protein 1 [ Homo sapiens (human) ]

Gene ID: 7011, updated on 27-Nov-2024

Summary

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Official Symbol
TEP1provided by HGNC
Official Full Name
telomerase associated protein 1provided by HGNC
Primary source
HGNC:HGNC:11726
See related
Ensembl:ENSG00000129566 MIM:601686; AllianceGenome:HGNC:11726
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TP1; TLP1; p240; TROVE1; VAULT2
Summary
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]
Expression
Ubiquitous expression in duodenum (RPKM 11.6), small intestine (RPKM 7.0) and 24 other tissues See more
Orthologs
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Genomic context

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See TEP1 in Genome Data Viewer
Location:
14q11.2
Exon count:
55
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (20365667..20413501, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (14562579..14610445, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (20833826..20881660, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8070 Neighboring gene ribonuclease P RNA component H1 Neighboring gene poly(ADP-ribose) polymerase 2 Neighboring gene MPRA-validated peak2111 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:20868788-20869987 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:20880498-20881414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8073 Neighboring gene RNA, 5S ribosomal pseudogene 382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:20897153-20897785 Neighboring gene kelch like family member 33 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:20903872-20904781

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The p80 homology region of TEP1 is sufficient for its association with the telomerase and vault RNAs, and the vault particle. Poderycki MJ, et al. Nucleic Acids Res, 2005. PMID 15701761, Free PMC Article
  2. TEP1 is a risk gene for sporadic cerebral palsy. Wang Y, et al. J Genet Genomics, 2021 Dec. PMID 34543729
  3. Genetic variants in the TEP1 gene are associated with prostate cancer risk and recurrence. Gu C, et al. Prostate Cancer Prostatic Dis, 2015 Dec. PMID 26238235
  4. Two genetic variants in telomerase-associated protein 1 are associated with stomach cancer risk. Jin DH, et al. J Hum Genet, 2016 Oct. PMID 27305982
  5. Polymerization defects within human telomerase are distinct from telomerase RNA and TEP1 binding. Beattie TL, et al. Mol Biol Cell, 2000 Oct. PMID 11029039, Free PMC Article

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TEP1 is a risk gene for sporadic cerebral palsy.
    Title: TEP1 is a risk gene for sporadic cerebral palsy.
  2. MVP Expression Facilitates Tumor Cell Proliferation and Migration Supporting the Metastasis of Colorectal Cancer Cells.
    Title: MVP Expression Facilitates Tumor Cell Proliferation and Migration Supporting the Metastasis of Colorectal Cancer Cells.
  3. hsa_circ_0004018 suppresses the progression of liver fibrosis through regulating the hsa-miR-660-3p/TEP1 axis.
    Title: hsa_circ_0004018 suppresses the progression of liver fibrosis through regulating the hsa-miR-660-3p/TEP1 axis.
  4. The current results suggested that genetic variants at TEP1 SNPs rs1760893 and rs1713423 may be associated significantly with increased risk of stomach cancer.
    Title: Two genetic variants in telomerase-associated protein 1 are associated with stomach cancer risk.
  5. TEP1 Polymorphisms are not associated with Hepatocellular Carcinoma in Thai Patients with Chronic Hepatitis B Virus Infection.
    Title: Association of PINX1 but not TEP1 Polymorphisms with Progression to Hepatocellular Carcinoma in Thai Patients with Chronic Hepatitis B Virus Infection.
  6. These data suggest that genetic variations in the TEP1 gene may be biomarkers for risk of PCa and BCR after RP.
    Title: Genetic variants in the TEP1 gene are associated with prostate cancer risk and recurrence.
  7. 8 common SNPs in telomerase reverse transcriptase (TERT) and telomerase-associated protein 1 (TEP1) were genotyped.
    Title: Genetic variants in telomerase reverse transcriptase (TERT) and telomerase-associated protein 1 (TEP1) and the risk of male infertility.
  8. the protein levels of MVP, TEP1 and vPARP are actually increased in the highergrade tumors suggesting existence of post-transcriptional regulation of vault component production.
    Title: Expression profiles of vault components MVP, TEP1 and vPARP and their correlation to other multidrug resistance proteins in ovarian cancer.
  9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  10. TEP1, TOPOIIalpha, and HSP90 interact directly with BLM in vitro and modulate its helicase activity on telomere-like DNA substrates but not on non-telomeric substrates.
    Title: Telomerase-associated protein 1, HSP90, and topoisomerase IIalpha associate directly with the BLM helicase in immortalized cells using ALT and modulate its helicase activity using telomeric DNA substrates.
Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables RNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables enzyme binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables p53 binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables telomerase RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables telomerase RNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
contributes_to telomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to telomerase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in RNA-templated DNA biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in telomere maintenance via recombination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in telomere maintenance via recombination IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in chromosome, telomeric region IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear matrix IDA
Inferred from Direct Assay
more info
 PubMed 
part_of ribonucleoprotein complex TAS
Traceable Author Statement
more info
 PubMed 
part_of telomerase holoenzyme complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of telomerase holoenzyme complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
telomerase protein component 1
Names
TROVE domain family, member 1
p80 telomerase homolog
telomerase protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001319035.2 → NP_001305964.1  telomerase protein component 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks alternate in-frame exons in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AL355075
    Consensus CDS
    CCDS81789.1
    UniProtKB/TrEMBL
    G3V5X7
    Related
    ENSP00000452574.1, ENST00000556935.5
    Conserved Domains (8) summary
    cd00200
    Location:1864 → 2200
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:1864 → 1905
    7WD40; WD40 repeat [structural motif]
    pfam05386
    Location:1 → 29
    TEP1_N; TEP1 N-terminal domain
    pfam05729
    Location:1054 → 1229
    NACHT; NACHT domain
    pfam05731
    Location:226 → 568
    TROVE; TROVE domain
    pfam13271
    Location:792 → 875
    DUF4062; Domain of unknown function (DUF4062)
    pfam19334
    Location:579 → 781
    DUF5920; Domain of unknown function (DUF5920)
    cl29593
    Location:1611 → 1888
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  2. NM_007110.5 → NP_009041.2  telomerase protein component 1 isoform 1

    See identical proteins and their annotated locations for NP_009041.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL355075, BC126107, BC143815
    Consensus CDS
    CCDS9548.1
    UniProtKB/Swiss-Prot
    A0AUV9, Q99973
    Related
    ENSP00000262715.5, ENST00000262715.10
    Conserved Domains (8) summary
    COG2319
    Location:1799 → 2190
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:1972 → 2308
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    pfam05386
    Location:1 → 29
    TEP1_N; TEP1 N-terminal domain
    pfam05729
    Location:1162 → 1337
    NACHT; NACHT domain
    pfam05731
    Location:226 → 676
    TROVE; TROVE domain
    pfam13271
    Location:908 → 1008
    DUF4062; Domain of unknown function (DUF4062)
    sd00039
    Location:1972 → 2013
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:1680 → 1955
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    20365667..20413501 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268027.6 → XP_005268084.1  telomerase protein component 1 isoform X1

    See identical proteins and their annotated locations for XP_005268084.1

    UniProtKB/Swiss-Prot
    A0AUV9, Q99973
    Conserved Domains (8) summary
    COG2319
    Location:1799 → 2190
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:1972 → 2308
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    pfam05386
    Location:1 → 29
    TEP1_N; TEP1 N-terminal domain
    pfam05729
    Location:1162 → 1337
    NACHT; NACHT domain
    pfam05731
    Location:226 → 676
    TROVE; TROVE domain
    pfam13271
    Location:908 → 1008
    DUF4062; Domain of unknown function (DUF4062)
    sd00039
    Location:1972 → 2013
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:1680 → 1955
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  2. XM_047431733.1 → XP_047287689.1  telomerase protein component 1 isoform X2

  3. XM_011537110.3 → XP_011535412.1  telomerase protein component 1 isoform X4

    UniProtKB/TrEMBL
    G3V2A4
    Related
    ENSP00000450541.1, ENST00000555008.5
    Conserved Domains (7) summary
    COG2319
    Location:1276 → 1667
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:1449 → 1785
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    pfam05729
    Location:639 → 814
    NACHT; NACHT domain
    pfam05731
    Location:1 → 153
    TROVE; TROVE domain
    pfam13271
    Location:385 → 485
    DUF4062; Domain of unknown function (DUF4062)
    sd00039
    Location:1449 → 1490
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:1157 → 1432
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  4. XM_047431734.1 → XP_047287690.1  telomerase protein component 1 isoform X3

  5. XM_047431735.1 → XP_047287691.1  telomerase protein component 1 isoform X5

    Related
    ENSP00000451634.1, ENST00000555727.5

RNA

  1. XR_007064043.1 RNA Sequence

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791796.1 Reference GRCh38.p14 PATCHES

    Range
    568348..616216 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333145.1 → XP_054189120.1  telomerase protein component 1 isoform X1

    UniProtKB/Swiss-Prot
    A0AUV9, Q99973

  2. XM_054333146.1 → XP_054189121.1  telomerase protein component 1 isoform X2

  3. XM_054333148.1 → XP_054189123.1  telomerase protein component 1 isoform X4

  4. XM_054333147.1 → XP_054189122.1  telomerase protein component 1 isoform X3

  5. XM_054333149.1 → XP_054189124.1  telomerase protein component 1 isoform X5

RNA

  1. XR_008485825.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    14562579..14610445 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376653.1 → XP_054232628.1  telomerase protein component 1 isoform X1

    UniProtKB/Swiss-Prot
    A0AUV9, Q99973

  2. XM_054376654.1 → XP_054232629.1  telomerase protein component 1 isoform X2

  3. XM_054376656.1 → XP_054232631.1  telomerase protein component 1 isoform X4

  4. XM_054376655.1 → XP_054232630.1  telomerase protein component 1 isoform X3

  5. XM_054376657.1 → XP_054232632.1  telomerase protein component 1 isoform X5

RNA

  1. XR_008488893.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99973.2 GenPept UniProtKB/Swiss-Prot:Q99973

Gene LinkOut

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