Terf2ip telomeric repeat binding factor 2, interacting protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Terf2ipprovided by MGI
Official Full Name: telomeric repeat binding factor 2, interacting proteinprovided by MGI
Primary source: MGI:MGI:1929871
See related: Ensembl:ENSMUSG00000033430 AllianceGenome:MGI:1929871
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: Rap1
Summary: Enables telomeric DNA binding activity. Involved in positive regulation of canonical NF-kappaB signal transduction; regulation of nucleobase-containing compound metabolic process; and telomere maintenance via telomere lengthening. Located in chromosome, telomeric region; cytoplasm; and male germ cell nucleus. Is expressed in several structures, including genitourinary system; heart; liver; and telencephalon. Orthologous to human TERF2IP (TERF2 interacting protein). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E18 (RPKM 11.5), CNS E14 (RPKM 9.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E1; 8 58.29 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (112737991..112747160)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (112011359..112020528)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Terf2ip deficiency accelerates non-alcoholic steatohepatitis through regulating lipophagy and fatty acid oxidation via Sirt1/AMPK pathway.
Title: Terf2ip deficiency accelerates non-alcoholic steatohepatitis through regulating lipophagy and fatty acid oxidation via Sirt1/AMPK pathway.
Aberrant expression and localization of the RAP1 shelterin protein contribute to age-related phenotypes.
Title: Aberrant expression and localization of the RAP1 shelterin protein contribute to age-related phenotypes.
Rap1 regulates TIP60 function during fate transition between two-cell-like and pluripotent states.
Title: Rap1 regulates TIP60 function during fate transition between two-cell-like and pluripotent states.
Deficiency of telomere-associated repressor activator protein 1 precipitates cardiac aging in mice via p53/PPARalpha signaling.
Title: Deficiency of telomere-associated repressor activator protein 1 precipitates cardiac aging in mice via p53/PPARα signaling.
Endothelial senescence is induced by phosphorylation and nuclear export of telomeric repeat binding factor 2-interacting protein.
Title: Endothelial senescence is induced by phosphorylation and nuclear export of telomeric repeat binding factor 2-interacting protein.
TBC1D21 may interact with and potentially regulate Rap1 during murine spermatogenesis.
Title: TBC1D21 Potentially Interacts with and Regulates Rap1 during Murine Spermatogenesis.
Rap1 may induce hepatic ischemia reperfusion injury (IRI) through promoting neutrophils inflammatory response. Rap1 may be the potential therapeutic target of attenuating hepatic IRI.
Title: Repressor and activator protein accelerates hepatic ischemia reperfusion injury by promoting neutrophil inflammatory response.
HS1 as an important regulator of proper Rac1 and Rap1 activation and neutrophil extravasation.
Title: HS1 deficiency impairs neutrophil recruitment in vivo and activation of the small GTPases Rac1 and Rap1.
Rap1 activation was dependent on PKA and required Src family kinases and the Rap1 exchanger C3G.
Title: Protein Kinase A-independent Ras Protein Activation Cooperates with Rap1 Protein to Mediate Activation of the Extracellular Signal-regulated Kinases (ERK) by cAMP.
Collectively the observations uncover a requirement for Rap1 in maintenance of lens epithelial phenotype and morphogenesis.
Title: Rap1 GTPase is required for mouse lens epithelial maintenance and morphogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

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

Endonuclease-mediated (4) 1 citation
Gene trapped (1)
Targeted (3) 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 G-rich strand telomeric DNA binding	IEA Inferred from Electronic Annotation more info
enables G-rich strand telomeric DNA binding	ISO Inferred from Sequence Orthology more info
enables phosphatase binding	IEA Inferred from Electronic Annotation more info
enables phosphatase binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables telomeric DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables telomeric DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of DNA recombination at telomere	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of telomere maintenance	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of telomere maintenance	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of non-canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of non-canonical NF-kappaB signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of telomere maintenance	NAS Non-traceable Author Statement more info	PubMed
NOT involved_in protection from non-homologous end joining at telomere	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protection from non-homologous end joining at telomere	ISO Inferred from Sequence Orthology more info
involved_in protein localization to chromosome, telomeric region	IEA Inferred from Electronic Annotation more info
involved_in protein localization to chromosome, telomeric region	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in regulation of double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of telomere maintenance	ISO Inferred from Sequence Orthology more info
involved_in telomere capping	ISO Inferred from Sequence Orthology more info
involved_in telomere maintenance	ISO Inferred from Sequence Orthology more info
involved_in telomere maintenance via telomere lengthening	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomere maintenance via telomere lengthening	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in telomeric loop formation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, telomeric region	IMP Inferred from Mutant Phenotype more info	PubMed
located_in chromosome, telomeric region	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in male germ cell nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IEA Inferred from Electronic Annotation more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
part_of nuclear telomere cap complex	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of shelterin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of shelterin complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: telomeric repeat-binding factor 2-interacting protein 1

Names: RAP1 homolog; TERF2-interacting telomeric protein 1; TRF2-interacting telomeric protein 1; TRF2-interacting telomeric protein Rap1; repressor/activator protein 1 homolog

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_020584.2 → NP_065609.2 telomeric repeat-binding factor 2-interacting protein 1

See identical proteins and their annotated locations for NP_065609.2

Status: VALIDATED

Source sequence(s)

AK148508, AK148537, BY129872

Consensus CDS

CCDS52678.1

UniProtKB/Swiss-Prot

D3YWE8, Q543F4, Q8C2Y1, Q91VL8, Q9JJE8, Q9JJE9

Related

ENSMUSP00000052170.9, ENSMUST00000052138.11

Conserved Domains (3) summary

pfam08914
Location:129 → 193

Myb_DNA-bind_2; Rap1 Myb domain

pfam16589
Location:17 → 100

BRCT_2; BRCT domain, a BRCA1 C-terminus domain

cl13131
Location:300 → 393

rap1_RCT; C-terminal domain of RAP1 recruits proteins to telomeres