UTP4
Sign in to saveAlso known as CIRHIN, NAIC, TEX292, CIRH1A, UTP4, small subunit processome component, UTP4 small subunit processome component
UTP4 is a gene that encodes the protein Cirhin, the gene is also known as CIRH1A and NAIC. This protein contains a WD40 repeat and is localized to the nucleolus where it colocates with UTP15 and WDR43. Biallelic mutations to UTP4 have been associated with North American Indian childhood cirrhosis, a form of inherited cirrhosis of the liver occurring in American Indian children from the Abitibi region of northern Quebec.
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
Molecular function
Pathways
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
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
~1 min read
Encyclopedic overview
3 sectionsContents
- References
- Further reading
- External links
UTP4 is a gene that encodes the protein Cirhin, the gene is also known as CIRH1A and NAIC. This protein contains a WD40 repeat and is localized to the nucleolus where it colocates with UTP15 and WDR43. Biallelic mutations to UTP4 have been associated with North American Indian childhood cirrhosis, a form of inherited cirrhosis of the liver occurring in American Indian children from the Abitibi region of northern Quebec.
== References ==
Excerpted from Wikipedia’s “UTP4” article, available under the CC BY-SA 4.0 licence.