UTP4
Sign in to saveAlso known as CIRHIN, NAIC, TEX292, CIRH1A, UTP4, small subunit processome component, UTP4 small subunit processome component
gene umano
Gene data
UTP4- Name
- UTP4 small subunit processome component
- Type
- protein-coding
- Position
- 69,131,291–69,231,130 (+)
- Aliases
- CIRH1A, CIRHIN, NAIC, TEX292
- Ensembl
- ENSG00000262788
- RefSeq RNA
- NM_001318391.2, NM_032830.3, XM_005256205.4, XM_047434817.1, XM_054314208.1
- RefSeq protein
- NP_001305320.1, NP_116219.2, XP_005256262.2, XP_047290773.1, XP_054170183.1
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].
Gene Ontology
Biological process
maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)regulation of DNA-templated transcriptionregulation of DNA-templated transcriptionmaturation of SSU-rRNAmaturation of SSU-rRNAribosomal small subunit biogenesis
Molecular function
Pathways
Ribosome biogenesis in eukaryotes - Homo sapiens (human)rRNA modification in the nucleus and cytosolMajor pathway of rRNA processing in the nucleolus and cytosolrRNA processingrRNA processingrRNA processing in the nucleus and cytosolrRNA processing in the nucleus and cytosolMetabolism of RNAMetabolism of RNA
via MyGene.info
Gene · Ensembl
UTP4 small subunit processome component
- Symbol
- UTP4
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr HSCHR16_2_CTG3_1:60,798-87,707
- Strand
- Reverse (−)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 40775
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/84916
- genomic end
- 69265033
- genomic start
- 69165194
- chromosome
- human chromosome 16
- cytogenetic location
- 16q22.1
- expressed in
- islet of Langerhans
Sources (3)
via Wikidata · CC0