======= CIRH1A ======= == Gene Information == * **Official Symbol**: UTP4 * **Official Name**: UTP4 small subunit processome component * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=84916|84916]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q969X6|Q969X6]] * **Interactions**: [[https://thebiogrid.org/search.php?search=CIRH1A&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CIRH1A|Open PubMed]] * **OMIM**: [[https://omim.org/entry/607456|Open OMIM]] == Function Summary == * **Entrez Summary**: 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]. * **UniProt Summary**: Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Involved in small subunit (SSU) pre-rRNA processing at sites A', A0, 1 and 2b. Required for optimal pre-ribosomal RNA transcription by RNA polymerase (PubMed:17699751, PubMed:19732766). May be a transcriptional regulator. Acts as a positive regulator of HIVEP1 which specifically binds to the DNA sequence 5'-GGGACTTTCC-3' found in enhancer elements of numerous viral promoters such as those of HIV-1, SV40, or CMV (PubMed:19732766). {ECO:0000269|PubMed:17699751, ECO:0000269|PubMed:19732766, ECO:0000269|PubMed:22916032}. No Pfam Domain information is available for this gene. |t-UTP complex| |90S preribosome| |maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)| |small-subunit processome| |maturation of SSU-rRNA| |ribosomal small subunit biogenesis| |chromosome| |fibrillar center| |rRNA processing| |rRNA metabolic process| |ribosome biogenesis| |ncRNA processing| |ribonucleoprotein complex biogenesis| |ncRNA metabolic process| |nucleolus| |RNA processing| |RNA binding| |RNA metabolic process| |gene expression| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp233|EPZ-5676 30μM R05 exp233]]|1.88| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 739/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|1/1| |909776.0|1/1| |bile duct|28/28| |blood|28/28| |bone|26/26| |breast|33/33| |central nervous system|56/56| |cervix|4/4| |colorectal|17/17| |esophagus|13/13| |fibroblast|1/1| |gastric|16/16| |kidney|21/21| |liver|20/20| |lung|75/75| |lymphocyte|16/16| |ovary|26/26| |pancreas|24/24| |peripheral nervous system|16/16| |plasma cell|15/15| |prostate|1/1| |skin|24/24| |soft tissue|9/9| |thyroid|2/2| |upper aerodigestive|22/22| |urinary tract|29/29| |uterus|5/5| == Essentiality in NALM6 == * **Essentiality Rank**: 856 * **Expression level (log2 read counts)**: 6.9 {{:chemogenomics:nalm6 dist.png?nolink |}}