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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.
Assigned HPA protein class(es) for the encoded protein(s).
Human disease related genes
Predicted locationi
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
q22.1
Chromosome location (bp)
69131291 - 69231130
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted d Involved in SSU pre-rRNA processing at sites A', A0, 1 and 2b. Required for optimal pre-ribosomal RNA transcription by RNA polymerase 1,2,3. May be a transcriptional regulator 4....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]...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.
Q969X6 [Direct mapping] U3 small nucleolar RNA-associated protein 4 homolog
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Digestive system diseases Liver diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Q969X6 [Direct mapping] U3 small nucleolar RNA-associated protein 4 homolog
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Digestive system diseases Liver diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
H3BSH7 [Direct mapping] U3 small nucleolar RNA-associated protein 4 homolog
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Digestive system diseases Liver diseases Protein evidence (Ezkurdia et al 2014)
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GO:0000462[maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)] GO:0001650[fibrillar center] GO:0005515[protein binding] GO:0030686[90S preribosome]
Q969X6 [Direct mapping] U3 small nucleolar RNA-associated protein 4 homolog
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Digestive system diseases Liver diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
J3KSI1 [Direct mapping] U3 small nucleolar RNA-associated protein 4 homolog
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Digestive system diseases Liver diseases Protein evidence (Ezkurdia et al 2014)
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GO:0000462[maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)] GO:0005515[protein binding] GO:0030686[90S preribosome]
H3BPD7 [Direct mapping] U3 small nucleolar RNA-associated protein 4 homolog
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Digestive system diseases Liver diseases Protein evidence (Ezkurdia et al 2014)
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GO:0000462[maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)] GO:0001650[fibrillar center] GO:0005515[protein binding] GO:0030686[90S preribosome]
J3KTR0 [Direct mapping] U3 small nucleolar RNA-associated protein 4 homolog
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Digestive system diseases Liver diseases Protein evidence (Ezkurdia et al 2014)
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GO:0000462[maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)] GO:0005515[protein binding] GO:0030686[90S preribosome]
H3BRM8 [Direct mapping] U3 small nucleolar RNA-associated protein 4 homolog
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Digestive system diseases Liver diseases Protein evidence (Ezkurdia et al 2014)
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GO:0000462[maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)] GO:0005515[protein binding] GO:0030686[90S preribosome]
J3KSE6 [Direct mapping] U3 small nucleolar RNA-associated protein 4 homolog
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Digestive system diseases Liver diseases Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000462[maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)] GO:0005515[protein binding] GO:0030686[90S preribosome]
The Human Protein Atlas project is funded
