Tep1 telomerase associated protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tep1provided by MGI
Official Full Name: telomerase associated protein 1provided by MGI
Primary source: MGI:MGI:109573
See related: Ensembl:ENSMUSG00000006281 AllianceGenome:MGI:109573
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Tp1
Summary: Enables telomerase RNA binding activity. Contributes to telomerase activity. Predicted to be involved in telomere maintenance via recombination. Part of telomerase holoenzyme complex. Is expressed in 2-cell stage embryo and 4-cell stage embryo. Human ortholog(s) of this gene implicated in hepatocellular carcinoma and stomach cancer. Orthologous to human TEP1 (telomerase associated protein 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in large intestine adult (RPKM 17.7), colon adult (RPKM 17.6) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 C1; 14 26.26 cM

Exon count:: 55

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (51061513..51108036, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (50824059..50870579, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables p53 binding	IEA Inferred from Electronic Annotation more info
enables p53 binding	ISO Inferred from Sequence Orthology more info
enables telomerase RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables telomerase RNA binding	IDA Inferred from Direct Assay more info	PubMed
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
contributes_to telomerase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in telomere maintenance via recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomere maintenance via recombination	IEA Inferred from Electronic Annotation more info
involved_in telomere maintenance via recombination	ISO Inferred from Sequence Orthology more info
NOT acts_upstream_of_or_within telomere maintenance via telomerase	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info	PubMed
located_in nuclear matrix	ISO Inferred from Sequence Orthology more info	PubMed
part_of ribonucleoprotein complex	ISO Inferred from Sequence Orthology more info
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
part_of telomerase holoenzyme complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: telomerase protein component 1

Names: p240; p80 homolog; 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)

NM_009351.2 → NP_033377.1 telomerase protein component 1

See identical proteins and their annotated locations for NP_033377.1

Status: VALIDATED

Source sequence(s)

BC082996, U86137

Consensus CDS

CCDS36907.1

UniProtKB/Swiss-Prot

P97499

UniProtKB/TrEMBL

Q5XKB2

Related

ENSMUSP00000006444.8, ENSMUST00000006444.9

Conserved Domains (8) summary

COG2319
Location:1806 → 2198

WD40; WD40 repeat [General function prediction only]

cd00200
Location:1979 → 2273

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:1171 → 1346

NACHT; NACHT domain

pfam05731
Location:230 → 685

TROVE; TROVE domain

pfam13271
Location:917 → 1017

DUF4062; Domain of unknown function (DUF4062)

sd00039
Location:1769 → 1804

7WD40; WD40 repeat [structural motif]

cl02567
Location:2534 → 2602

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_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000080.7 Reference GRCm39 C57BL/6J

Range

51061513..51108036 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030247719.2 → XP_030103579.1 telomerase protein component 1 isoform X1

Conserved Domains (4) summary

pfam05386
Location:1 → 29

TEP1_N; TEP1 N-terminal domain

pfam05729
Location:1171 → 1346

NACHT; NACHT domain

pfam05731
Location:230 → 685

TROVE; TROVE domain

pfam13271
Location:909 → 1017

DUF4062; Domain of unknown function (DUF4062)