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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
16
Cytoband
q23.1
Chromosome location (bp)
75647773 - 75761872
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q9NYB0 [Direct mapping] Telomeric repeat-binding factor 2-interacting protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000228[nuclear chromosome] GO:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0000783[nuclear telomere cap complex] GO:0001673[male germ cell nucleus] GO:0001933[negative regulation of protein phosphorylation] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] 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:0016233[telomere capping] GO:0016604[nuclear body] GO:0019902[phosphatase binding] GO:0031848[protection from non-homologous end joining at telomere] GO:0032204[regulation of telomere maintenance] GO:0032205[negative regulation of telomere maintenance] GO:0032206[positive regulation of telomere maintenance] GO:0033044[regulation of chromosome organization] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0042162[telomeric DNA binding] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0048239[negative regulation of DNA recombination at telomere] GO:0048584[positive regulation of response to stimulus] GO:0051054[positive regulation of DNA metabolic process] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0070187[shelterin complex] GO:0070198[protein localization to chromosome, telomeric region] GO:0098505[G-rich strand telomeric DNA binding] GO:0098687[chromosomal region] GO:1901224[positive regulation of NIK/NF-kappaB signaling] GO:1901985[positive regulation of protein acetylation]
A0A590UJT3 [Direct mapping] Telomeric repeat-binding factor 2-interacting protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
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GO:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0006355[regulation of DNA-templated transcription] GO:0010833[telomere maintenance via telomere lengthening] GO:0033044[regulation of chromosome organization] GO:0048584[positive regulation of response to stimulus] GO:0051054[positive regulation of DNA metabolic process] GO:0098687[chromosomal region]
The Human Protein Atlas project is funded
