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TERF2IP TERF2 interacting protein [ Homo sapiens (human) ]

Gene ID: 54386, updated on 6-Jan-2019

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

Genomic context

See TERF2IP in Genome Data Viewer
Location:
16q23.1
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (75647737..75657442)
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 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cellular Senescence, organism-specific biosystem (from REACTOME)
    Cellular Senescence, organism-specific biosystemCellular senescence involves irreversible growth arrest accompanied by phenotypic changes such as enlarged morphology, reorganization of chromatin through formation of senescence-associated heterochr...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
    Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
  • DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystem (from REACTOME)
    DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystemReactive oxygen species (ROS), whose concentration increases in senescent cells due to oncogenic RAS-induced mitochondrial dysfunction (Moiseeva et al. 2009) or due to environmental stress, cause DNA...
  • Meiosis, organism-specific biosystem (from REACTOME)
    Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
  • Meiotic synapsis, organism-specific biosystem (from REACTOME)
    Meiotic synapsis, organism-specific biosystemMeiotic synapsis is the stable physical pairing of homologous chromosomes that begins in leptonema of prophase I and lasts until anaphase of prophase I. First, short segments of axial elements form a...
  • Packaging Of Telomere Ends, organism-specific biosystem (from REACTOME)
    Packaging Of Telomere Ends, organism-specific biosystemMultiple steps, including C-strand resection, telomerase-mediated elongation, and C-strand synthesis are involved in processing and maintaining the telomere. Though this module posits a linear trans...
  • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of Telomerase, organism-specific biosystem
    Regulation of Telomerase
  • Shelterin complex, organism-specific biosystem (from KEGG)
    Shelterin complex, organism-specific biosystemStructural complex; Genetic information processing; Replication system
  • Shelterin complex, conserved biosystem (from KEGG)
    Shelterin complex, conserved biosystemStructural complex; Genetic information processing; Replication system
  • Telomere Maintenance, organism-specific biosystem (from REACTOME)
    Telomere Maintenance, organism-specific biosystemTelomeres are protein-DNA complexes at the ends of linear chromosomes that are important for genome stability. Telomeric DNA in humans, as in many eukaryotic organisms, consists of tandem repeats (B...

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 chromosome, telomeric region HDA PubMed 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nuclear envelope IEA
Inferred from Electronic Annotation
more info
 
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)

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
    5034..14739
    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, ENST00000300086.4
    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_144545.1 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)
    AA769291, AF250393, AK307901, BC022428, BQ695129

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    75647737..75657442
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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