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	21873635
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	23357851, 25416956, 29892012, 31515488, 32296183
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IBA	21873635
GO:0005730	Component	Nucleolus	IDA	23357851
GO:0006364	Process	RRNA processing	TAS
GO:0007275	Process	Multicellular organism development	IEA
GO:0019843	Function	RRNA binding	IBA	21873635
GO:0030163	Process	Protein catabolic process	IMP	23357851
GO:0031648	Process	Protein destabilization	IMP	23357851
GO:0032040	Component	Small-subunit processome	IBA	21873635
GO:0034511	Function	U3 snoRNA binding	IBA	21873635
GO:0040019	Process	Positive regulation of embryonic development	ISS

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

Causal
Disease term	Disease name	dbSNP ID	References
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869	25007945

Unknown
Disease term	Disease name	Evidence	References	Source
Cleft Lip With Or Without Cleft Palate	Cleft Lip With Or Without Cleft Palate			GWAS
Hypertension	Hypertension			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Neoplasms	Associate	32041475