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

Gene ID: 7011, updated on 12-Aug-2018

Summary

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; Vega:OTTHUMG00000029515
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

Genomic context

See TEP1 in Genome Data Viewer
Location:
14q11.2
Exon count:
55
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (20365667..20413540, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (20833826..20882331, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene cyclin B1 interacting protein 1 Neighboring gene small nucleolar RNA, C/D box 126 Neighboring gene poly(ADP-ribose) polymerase 2 Neighboring gene ribonuclease P RNA component H1 Neighboring gene RNA, 5S ribosomal pseudogene 382 Neighboring gene kelch like family member 33

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001319035.1NP_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, OTTHUMP00000244564, ENST00000556935.5, OTTHUMT00000410689
    Conserved Domains (8) summary
    COG2319
    Location:16912082
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:18642200
    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:129
    TEP1_N; TEP1 N-terminal domain
    pfam05729
    Location:10541229
    NACHT; NACHT domain
    pfam05731
    Location:226568
    TROVE; TROVE domain
    pfam13271
    Location:800900
    DUF4062; Domain of unknown function (DUF4062)
    sd00039
    Location:18641905
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:16111888
    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_007110.4NP_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
    Q99973
    Related
    ENSP00000262715.5, OTTHUMP00000028244, ENST00000262715.9, OTTHUMT00000073563
    Conserved Domains (8) summary
    COG2319
    Location:17992190
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:19722308
    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:129
    TEP1_N; TEP1 N-terminal domain
    pfam05729
    Location:11621337
    NACHT; NACHT domain
    pfam05731
    Location:226676
    TROVE; TROVE domain
    pfam13271
    Location:9081008
    DUF4062; Domain of unknown function (DUF4062)
    sd00039
    Location:19722013
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:16801955
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    20365667..20413540 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268027.5XP_005268084.1  telomerase protein component 1 isoform X1

    See identical proteins and their annotated locations for XP_005268084.1

    UniProtKB/Swiss-Prot
    Q99973
    Conserved Domains (8) summary
    COG2319
    Location:17992190
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:19722308
    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:129
    TEP1_N; TEP1 N-terminal domain
    pfam05729
    Location:11621337
    NACHT; NACHT domain
    pfam05731
    Location:226676
    TROVE; TROVE domain
    pfam13271
    Location:9081008
    DUF4062; Domain of unknown function (DUF4062)
    sd00039
    Location:19722013
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:16801955
    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_011537110.2XP_011535412.1  telomerase protein component 1 isoform X2

    Related
    ENSP00000450541.1, OTTHUMP00000244562, ENST00000555008.5, OTTHUMT00000410687
    Conserved Domains (7) summary
    COG2319
    Location:12761667
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:14491785
    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:639814
    NACHT; NACHT domain
    pfam05731
    Location:1153
    TROVE; TROVE domain
    pfam13271
    Location:385485
    DUF4062; Domain of unknown function (DUF4062)
    sd00039
    Location:14491490
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:11571432
    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 ...

RNA

  1. XR_245720.3 RNA Sequence

  2. XR_001750531.1 RNA Sequence

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