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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
4
Cytoband
q32.2
Chromosome location (bp)
163110073 - 163166890
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
RNA-binding protein required for the maturation of box H/ACA snoRNPs complex and ribosome biogenesis. During assembly of the H/ACA snoRNPs complex, it associates with the complex and disappears during maturation of the complex and is replaced by NOLA1/GAR1 to yield mature H/ACA snoRNPs complex. Probably competes with NOLA1/GAR1 for binding with DKC1/NOLA4....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Ribonucleoprotein, RNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Ribosome biogenesis, rRNA processing
Gene summary (Entrez)i
Useful information about the gene from Entrez
Enables identical protein binding activity and telomerase RNA binding activity. Involved in regulation of nucleobase-containing compound metabolic process; ribosome biogenesis; and telomerase holoenzyme complex assembly. Located in nucleoplasm. Part of sno(s)RNA-containing ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022]...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 (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000454[snoRNA guided rRNA pseudouridine synthesis] GO:0000493[box H/ACA snoRNP assembly] GO:0001522[pseudouridine synthesis] GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005732[sno(s)RNA-containing ribonucleoprotein complex] GO:0005737[cytoplasm] GO:0006364[rRNA processing] GO:0032212[positive regulation of telomere maintenance via telomerase] GO:0042254[ribosome biogenesis] GO:0042802[identical protein binding] GO:0043489[RNA stabilization] GO:0051973[positive regulation of telomerase activity] GO:0070034[telomerase RNA binding] GO:0071840[cellular component organization or biogenesis] GO:0090669[telomerase RNA stabilization] GO:1904358[positive regulation of telomere maintenance via telomere lengthening] GO:1904874[positive regulation of telomerase RNA localization to Cajal body] GO:1905323[telomerase holoenzyme complex assembly] GO:1990904[ribonucleoprotein complex]
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:0000454[snoRNA guided rRNA pseudouridine synthesis] GO:0000493[box H/ACA snoRNP assembly] GO:0001522[pseudouridine synthesis] GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005732[sno(s)RNA-containing ribonucleoprotein complex] GO:0005737[cytoplasm] GO:0006364[rRNA processing] GO:0032212[positive regulation of telomere maintenance via telomerase] GO:0042254[ribosome biogenesis] GO:0042802[identical protein binding] GO:0043489[RNA stabilization] GO:0051973[positive regulation of telomerase activity] GO:0070034[telomerase RNA binding] GO:0071840[cellular component organization or biogenesis] GO:0090669[telomerase RNA stabilization] GO:1904358[positive regulation of telomere maintenance via telomere lengthening] GO:1904874[positive regulation of telomerase RNA localization to Cajal body] GO:1905323[telomerase holoenzyme complex assembly] GO:1990904[ribonucleoprotein complex]
The Human Protein Atlas project is funded
