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TERF2IP TERF2 interacting protein [ Homo sapiens (human) ]

Gene ID: 54386, updated on 13-Dec-2020

Summary

Official Symbol
TERF2IPprovided by HGNC
Official Full Name
TERF2 interacting proteinprovided by HGNC
Primary source
HGNC:HGNC:19246
See related
Ensembl:ENSG00000166848 MIM:605061
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
RAP1; DRIP5
Summary
The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010]
Expression
Ubiquitous expression in brain (RPKM 81.9), adrenal (RPKM 51.2) and 25 other tissues See more
Orthologs
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Genomic context

See TERF2IP in Genome Data Viewer
Location:
16q23.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (75647773..75657432)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (75681602..75691340)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene adenosine deaminase tRNA specific 1 Neighboring gene lysyl-tRNA synthetase 1 Neighboring gene uncharacterized LOC112268164 Neighboring gene RNA, 7SL, cytoplasmic 520, pseudogene Neighboring gene double homeobox B

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-rich strand telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
NOT telomeric DNA binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
negative regulation of DNA recombination at telomere ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of telomere maintenance IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of I-kappaB kinase/NF-kappaB signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of NF-kappaB transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of NIK/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of peptidyl-serine phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein acetylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protection from non-homologous end joining at telomere IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT protection from non-homologous end joining at telomere ISS
Inferred from Sequence or Structural Similarity
more info
 
protein localization to chromosome, telomeric region IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of double-strand break repair via homologous recombination ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
telomere capping TAS
Traceable Author Statement
more info
 
telomere maintenance IDA
Inferred from Direct Assay
more info
PubMed 
telomere maintenance via telomerase TAS
Traceable Author Statement
more info
PubMed 
telomere maintenance via telomere lengthening IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomere maintenance via telomere lengthening ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
colocalizes_with Mre11 complex IDA
Inferred from Direct Assay
more info
PubMed 
chromosome, telomeric region HDA PubMed 
chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
chromosome, telomeric region ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nuclear chromosome TAS
Traceable Author Statement
more info
PubMed 
nuclear telomere cap complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
shelterin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
shelterin complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
telomeric repeat-binding factor 2-interacting protein 1
Names
TERF2-interacting telomeric protein 1
TRF2-interacting telomeric RAP1 protein
dopamine receptor-interacting protein 5
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.

Genomic

  1. NG_051307.2 RefSeqGene

    Range
    5070..14729
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018975.4NP_061848.2  telomeric repeat-binding factor 2-interacting protein 1

    See identical proteins and their annotated locations for NP_061848.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the supported protein.
    Source sequence(s)
    AA769291, AK307901, BC022428
    Consensus CDS
    CCDS32491.1
    UniProtKB/Swiss-Prot
    Q9NYB0
    Related
    ENSP00000300086.4, ENST00000300086.5
    Conserved Domains (3) summary
    cd11653
    Location:306399
    rap1_RCT; C-terminal domain of RAP1 recruits proteins to telomeres
    pfam08914
    Location:132196
    Myb_DNA-bind_2; Rap1 Myb domain
    pfam16589
    Location:17100
    BRCT_2; BRCT domain, a BRCA1 C-terminus domain

RNA

  1. NR_144545.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' terminal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF250393, AK307901, BC022428, BQ695129

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    75647773..75657432
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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