UTP25 (UTP25 small subunit processome component)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27042
Gene name Gene Name - the full gene name approved by the HGNC.
UTP25 small subunit processome component
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UTP25
Synonyms (NCBI Gene) Gene synonyms aliases
C1orf107, DEF, DIEXF, DJ434O14.5
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q32.2
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
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:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 23357851, 25416956, 27657329, 29892012, 31515488, 32296183, 33961781
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
619663 28440 ENSG00000117597
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q68CQ4
Protein name U3 small nucleolar RNA-associated protein 25 homolog (Digestive organ expansion factor homolog) (UTP25 small subunit processor component)
Protein function Component of the ribosomal small subunit processome for the biogenesis of ribosomes, functions in pre-ribosomal RNA (pre-rRNA) processing (By similarity). Essential for embryonic development in part through the regulation of p53 pathway. Control
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06862 UTP25 276 → 751 Utp25, U3 small nucleolar RNA-associated SSU processome protein 25 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in colon. {ECO:0000269|PubMed:25007945}.
Sequence
Sequence length 756
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    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 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
Cleft Lip With Or Without Cleft Palate Cleft lip with or without cleft palate N/A N/A GWAS
Hypertension Hypertension N/A N/A GWAS
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Neoplasms Associate 32041475