Homo sapiens Protein: TERF2IP | |||||||||||||||||||||||||
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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 |
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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.
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Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||
InterPro |
IPR001357
BRCT domain IPR009057 Homeodomain-like IPR015010 Rap1 Myb domain |
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PFAM |
PF00533
PF12738 PF08914 |
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PRINTS | |||||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||||
SMART |
SM00292
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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 | ||||||||||||||||||||||||