UTP4 (UTP4 small subunit processome component)
Gene | |
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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84916 |
Gene name
Gene Name - the full gene name approved by the HGNC.
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UTP4 small subunit processome component |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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UTP4 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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CIRH1A, CIRHIN, NAIC, TEX292 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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NAIC |
Chromosome
Chromosome number
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16 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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16q22.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein | |||||||||||
UniProt ID | Q969X6 | ||||||||||
Protein name | U3 small nucleolar RNA-associated protein 4 homolog (Cirhin) (UTP4 small subunit processome component) | ||||||||||
Protein function | 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 nucleo | ||||||||||
PDB | 7MQ8 , 7MQ9 , 7MQA | ||||||||||
Family and domains |
Pfam
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Sequence |
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Sequence length | 686 | ||||||||||
Interactions | View interactions |
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease information provided by ClinVar, GenCC, and GWAS databases.
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