Homo sapiens Protein: TERF2IP
Summary
InnateDB Protein IDBP-42785.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TERF2IP
Protein Name telomeric repeat binding factor 2, interacting protein
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000300086
InnateDB Gene IDBG-42783 (TERF2IP)
Protein Structure
UniProt Annotation
Function Acts both as a regulator of telomere function and as a transcription regulator. Involved in the regulation of telomere length and protection as a component of the shelterin complex (telosome). In contrast to other components of the shelterin complex, it is dispensible for telomere capping and does not participate in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair. Instead, it is required to negatively regulate telomere recombination and is essential for repressing homology-directed repair (HDR), which can affect telomere length. Does not bind DNA directly: recruited to telomeric double-stranded 5'-TTAGGG-3' repeats via its interaction with TERF2. Independently of its function in telomeres, also acts as a transcription regulator: recruited to extratelomeric 5'- TTAGGG-3' sites via its association with TERF2 or other factors, and regulates gene expression. When cytoplasmic, associates with the I-kappa-B-kinase (IKK) complex and acts as a regulator of the NF-kappa-B signaling by promoting IKK-mediated phosphorylation of RELA/p65, leading to activate expression of NF-kappa-B target genes. {ECO:0000269PubMed:16166375, ECO:0000269PubMed:19763083}.
Subcellular Localization Nucleus. Cytoplasm {ECO:0000250}. Chromosome. Chromosome, telomere. Note=Associates with chromosomes, both at telomeres and in extratelomeric sites. Also exists as a cytoplasmic form, where it associates with the IKK complex (By similarity). {ECO:0000250}.
Disease Associations
Tissue Specificity Ubiquitous. Highly expressed.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 163 experimentally validated interaction(s) in this database.
Experimentally validated
Total 163 [view]
Protein-Protein 162 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
Biological Process
GO:0000723 telomere maintenance
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007004 telomere maintenance via telomerase
GO:0010569 regulation of double-strand break repair via homologous recombination
GO:0010833 telomere maintenance via telomere lengthening
GO:0031848 protection from non-homologous end joining at telomere
GO:0032205 negative regulation of telomere maintenance
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0048239 negative regulation of DNA recombination at telomere
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:0070198 protein localization to chromosome, telomeric region
Cellular Component
GO:0000228 nuclear chromosome
GO:0000781 chromosome, telomeric region
GO:0000783 nuclear telomere cap complex
GO:0000784 nuclear chromosome, telomeric region
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0030870 Mre11 complex
Protein Structure and Domains
PDB ID
InterPro IPR001357 BRCT domain
IPR009057 Homeodomain-like
IPR015010 Rap1 Myb domain
PFAM PF00533
PF12738
PF08914
PRINTS
PIRSF
SMART SM00292
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NYB0
PhosphoSite PhosphoSite-Q9NYB0
TrEMBL
UniProt Splice Variant
Entrez Gene 54386
UniGene Hs.301419
RefSeq NP_061848
HUGO HGNC:19246
OMIM 605061
CCDS CCDS32491
HPRD 05452
IMGT
EMBL AC025287 AF250393 AF262988 AF289599 AK000669 AK298880 BC004465 BC005841 BC022428 BC078171 CH471114
GenPept AAF72711 AAH04465 AAH05841 AAH22428 AAH78171 AAL55783 AAQ14259 BAA91317 BAG60996 EAW95616 EAW95618