U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    TERF2IP TERF2 interacting protein [ Homo sapiens (human) ]

    Gene ID: 54386, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:19246
    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
    Enables G-rich strand telomeric DNA binding activity and phosphatase binding activity. Involved in several processes, including positive regulation of NIK/NF-kappaB signaling; regulation of nucleobase-containing compound metabolic process; and regulation of protein modification process. Located in chromosome, telomeric region; cytosol; and nuclear body. Part of shelterin complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 81.9), adrenal (RPKM 51.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TERF2IP in Genome Data Viewer
    Location:
    16q23.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (75647773..75657432)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (81696070..81705729)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (75681671..75691330)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene adenosine deaminase tRNA specific 1 Neighboring gene Sharpr-MPRA regulatory region 14871 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75655412-75655932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75655933-75656452 Neighboring gene H3K27ac hESC enhancers GRCh37_chr16:75656453-75656972 and GRCh37_chr16:75656973-75657492 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567 Neighboring gene lysyl-tRNA synthetase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11144 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:75681635-75682592 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:75682593-75683548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11146 Neighboring gene cytoplasmic polyadenylated homeobox like 2 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G-rich strand telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 
    NOT enables telomeric DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in intracellular signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of DNA recombination at telomere ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of telomere maintenance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of canonical NF-kappaB signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of non-canonical NF-kappaB signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of telomere maintenance NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protection from non-homologous end joining at telomere IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protection from non-homologous end joining at telomere IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in protection from non-homologous end joining at telomere ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein localization to chromosome, telomeric region IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of double-strand break repair via homologous recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in telomere capping IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in telomere maintenance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in telomere maintenance via telomerase TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in telomere maintenance via telomere lengthening IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in telomere maintenance via telomere lengthening ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in chromosome, telomeric region HDA PubMed 
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome, telomeric region ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in male germ cell nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear chromosome TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of nuclear telomere cap complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of shelterin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of shelterin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of shelterin complex IPI
    Inferred from Physical Interaction
    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)

    NEW Try the new Transcript table

    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), LRG_1084

    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
      B4DQN4, Q4W4Y2, Q8WYZ3, Q9NWR2, 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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047434216.1XP_047290172.1  telomeric repeat-binding factor 2-interacting protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      81696070..81705729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380478.1XP_054236453.1  telomeric repeat-binding factor 2-interacting protein 1 isoform X1