UTP4 (UTP4 small subunit processome component)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84916
Gene name Gene Name - the full gene name approved by the HGNC.
UTP4 small subunit processome component
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UTP4
Synonyms (NCBI Gene) Gene synonyms aliases
CIRH1A, CIRHIN, NAIC, TEX292
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(134)
miRTarBase ID miRNA Experiments Reference
MIRT723697 hsa-miR-495-3p HITS-CLIP 19536157
MIRT723696 hsa-miR-5688 HITS-CLIP 19536157
MIRT723695 hsa-miR-4687-5p HITS-CLIP 19536157
MIRT723694 hsa-miR-4690-3p HITS-CLIP 19536157
MIRT723693 hsa-miR-5685 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
GO ID Ontology Definition Evidence Reference
GO:0000462 Process Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
GO:0000462 Process Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IEA
GO:0001650 Component Fibrillar center IDA 24219289
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 19732766, 22916032, 24219289, 28514442, 33961781, 35271311
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607456 1983 ENSG00000141076
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Accession ID Position in sequence Description Type
PF00400 WD40 95 → 129 WD domain, G-beta repeat Repeat
Sequence 
MGEFKVHRVRFFNYVPSGIRCVAYNNQSNRLAVSRTDGTVEIYNLSANYFQEKFFPGHES
RATEALCWAEGQRLFSAGLNGEIMEYDLQALNIKYAMDAFGGPIWSMAASPSGSQLLVGC
EDGSVKLFQITPDKIQFERNFDRQKSRILSLSWHPSGTHIAAGSIDYISVFDVKSGSAVH
KMIVDRQYMGVSKRKCIVWGVAFLSDGTIISVDSAGKVQFWDSATGTLVKSHLIANADVQ
SIAVADQEDSFVVGTAEGTVFHFQLVPVTSNSSEKQWVRTKPFQHHTHDVRTVAHSPTAL
ISGGTDTHLVFRPLMEKVEVKNYDAALRKITFPHRCLISCSKKRQLLLFQFAHHLELWRL
GSTVATGKNGDTLPLSKNADHLLHLKTKGPENIICSCISPCGSWIAYSTVSRFFLYRLNY
EHDNISLKRVSKMPAFLRSALQILFSEDSTKLFVASNQGALHIVQLSGGSFKHLHAFQPQ
SGTVEAMCLLAVSPDGNWLAASGTSAGVHVYNVKQLKLHCTVPAYNFPVTAMAIAPNTNN
LVIAHSDQQVFEYSIPDKQYTDWSRTVQKQGFHHLWLQRDTPITHISFHPKRPMHILLHD
AYMFCIIDKSLPLPNDKTLLYNPFPPTNESDVIRRRTAHAFKISKIYKPLLFMDLLDERT
LVAVERPLDDIIAQLPPPIKKKKFGT
Sequence length 686
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Ribosome biogenesis in eukaryotes   Major pathway of rRNA processing in the nucleolus and cytosol
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cirrhosis hereditary north american indian childhood cirrhosis, hereditary North American Indian childhood cirrhosis, cirrhosis, familial N/A N/A ClinVar, GenCC
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Fibrosis Associate 22916032
North American Indian Childhood Cirrhosis Associate 22916032