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

    Gene ID: 7011, updated on 2-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
    mouse all
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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 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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    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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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

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