UTP25 (UTP25 small subunit processome component)

Gene

• Entrez ID: 27042
• Gene name: UTP25 small subunit processome component
• Gene symbol: UTP25
• Synonyms (NCBI Gene): C1orf107, DEF, DIEXF, DJ434O14.5
• Chromosome: 1
• Chromosome location: 1q32.2

Gene ontology (GO)

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
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IDA	23357851, 27657329
GO:0005730	Component	Nucleolus	IEA
GO:0006364	Process	RRNA processing	IEA
GO:0019843	Function	RRNA binding	IBA
GO:0030163	Process	Protein catabolic process	IMP	23357851
GO:0031648	Process	Protein destabilization	IMP	23357851
GO:0032040	Component	Small-subunit processome	IBA
GO:0034511	Function	U3 snoRNA binding	IBA
GO:0034511	Function	U3 snoRNA binding	IEA
GO:0040019	Process	Positive regulation of embryonic development	ISS
GO:0048568	Process	Embryonic organ development	IMP	27657329
GO:1902570	Process	Protein localization to nucleolus	IDA	27657329

Other IDs

• MIM: 619663
• HGNC: 28440
• e!Ensembl: ENSG00000117597

Protein

• 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:

  MGKRGSRSQSQLLNTLTKKQKKHLRDFGEEHPFYDRVSRKEAKPQICQLSESSDSSDSES
  DSESEPQQVSGYHRLLATLKNVSEEEEEDEEEEEEEDSIVDDAEMNDEDGGSDVSVEEEM
  AAESTESPENVALSADPEGKEDGEEPPGTSQTSPEEFTDAKHESLFSLETNFLEEESGDN
  SSLKASQDPFLQHVNKELKEKAIQAVATNPKTTHELKWPILGQLFFSSKFQKLETFKPPK
  DIDLKSLHLQKPLESTWTKTNSQFLSGPQKSSSPFTPLQKELFLIMNSYRDLFYPERTAL
  KNGEEIRHVYCLHVINHILKANAQVLGNNSRRRSQKFGVGDDDDFRDQGLTRPKVLIVVP
  FREAALRVVQLFISLLEGDSKKKIIVSNKKRFQGEYGSDPEERPPNLKRPEDYEAVFVGN
  IDDHFRIGVAILQRSIRLYAPFYSSDILIASPLGLRTIIGGEGEKKRDFDFLSSIELLII
  DQADIYLMQNWEHVLHLMNHMNLLPLDSHGVDFSRVRMWSLNNWSKYYRQTLLFGALQDA
  QINSVFNKYCVNMQGQVAVRNVPMTGSISHVLVQLPHVFQRMEAENLASVIDARFNFFVN
  KILPQYRDAVMSHTLIYIPSYFDFVRLRNYFKKEELNFTHICEYTQKSGVSRARHFFLQG
  EKQFLLFTERFHFYKRYTIKGIRNLIFYELPTYPHFYSEICNMLRATNRGEEATWTCTVL
  YSKYDAQRLAAVVGVERAAQMLQSNKNVHLFITGEK

• Sequence length: 756

Pathways

Reactome:

Major pathway of rRNA processing in the nucleolus and cytosol

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24460299		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	CTD_human_DG	25007945		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Rectosigmoid Colon	Colonic Aganglionosis	CTD_human_DG	25007945		★☆☆☆☆ Found in Text Mining only
Congenital Intestinal Aganglionosis	Congenital Intestinal Aganglionosis	CTD_human_DG	25007945		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	24335553		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	CTD_human_DG	25007945		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	28509080		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	2556864	Associate	★☆☆☆☆ Found in Text Mining only