We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
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
X
Cytoband
p11.22
Chromosome location (bp)
54530183 - 54621521
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Stabilizes TERF1 telomeric association by preventing TERF1 recruitment by PML. Stabilizes TERF1 protein by preventing its ubiquitination and hence proteasomal degradation. Does so by interfering with TERF1-binding to FBXO4 E3 ubiquitin-protein ligase. Required for cell proliferation. By stabilizing TRF1 protein during mitosis, promotes metaphase-to-anaphase transition. Stabilizes MDM2 protein by preventing its ubiquitination, and hence proteasomal degradation. By acting on MDM2, may affect TP53 activity. Required for normal processing of ribosomal pre-rRNA. Binds GTP....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Ribosome biogenesis
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
GTP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene appears to be a nucleolar GTPase that is essential for ribosomal pre-rRNA processing and cell proliferation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005525[GTP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005697[telomerase holoenzyme complex] GO:0005730[nucleolus] GO:0005829[cytosol] GO:0016020[membrane] GO:0031334[positive regulation of protein-containing complex assembly] GO:0031397[negative regulation of protein ubiquitination] GO:0031647[regulation of protein stability] GO:0032091[negative regulation of protein binding] GO:0032211[negative regulation of telomere maintenance via telomerase] GO:0033234[negative regulation of protein sumoylation] GO:0042254[ribosome biogenesis] GO:1904816[positive regulation of protein localization to chromosome, telomeric region]
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)
Show all
GO:0000166[nucleotide binding] GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005525[GTP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005697[telomerase holoenzyme complex] GO:0005730[nucleolus] GO:0005829[cytosol] GO:0016020[membrane] GO:0031334[positive regulation of protein-containing complex assembly] GO:0031397[negative regulation of protein ubiquitination] GO:0031647[regulation of protein stability] GO:0032091[negative regulation of protein binding] GO:0032211[negative regulation of telomere maintenance via telomerase] GO:0033234[negative regulation of protein sumoylation] GO:0042254[ribosome biogenesis] GO:1904816[positive regulation of protein localization to chromosome, telomeric region]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005525[GTP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005697[telomerase holoenzyme complex] GO:0005730[nucleolus] GO:0005829[cytosol] GO:0016020[membrane] GO:0031334[positive regulation of protein-containing complex assembly] GO:0031397[negative regulation of protein ubiquitination] GO:0031647[regulation of protein stability] GO:0032091[negative regulation of protein binding] GO:0032211[negative regulation of telomere maintenance via telomerase] GO:0033234[negative regulation of protein sumoylation] GO:0042254[ribosome biogenesis] GO:1904816[positive regulation of protein localization to chromosome, telomeric region]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005525[GTP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005697[telomerase holoenzyme complex] GO:0005730[nucleolus] GO:0005829[cytosol] GO:0016020[membrane] GO:0031334[positive regulation of protein-containing complex assembly] GO:0031397[negative regulation of protein ubiquitination] GO:0031647[regulation of protein stability] GO:0032091[negative regulation of protein binding] GO:0032211[negative regulation of telomere maintenance via telomerase] GO:0033234[negative regulation of protein sumoylation] GO:0042254[ribosome biogenesis] GO:1904816[positive regulation of protein localization to chromosome, telomeric region]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005525[GTP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005697[telomerase holoenzyme complex] GO:0005730[nucleolus] GO:0005829[cytosol] GO:0016020[membrane] GO:0031334[positive regulation of protein-containing complex assembly] GO:0031397[negative regulation of protein ubiquitination] GO:0031647[regulation of protein stability] GO:0032091[negative regulation of protein binding] GO:0032211[negative regulation of telomere maintenance via telomerase] GO:0033234[negative regulation of protein sumoylation] GO:0042254[ribosome biogenesis] GO:1904816[positive regulation of protein localization to chromosome, telomeric region]
The Human Protein Atlas project is funded
