• Gene id: 51096

Gene Summary

• Gene Symbol: UTP18   Gene   UCSC   Ensembl
• Aliases: CGI-48, WDR50
• Gene name: UTP18 small subunit processome component
• Alternate names: U3 small nucleolar RNA-associated protein 18 homolog, UTP18, small subunit (SSU) processome component, homolog, WD repeat domain 50, WD repeat-containing protein 50,
• Gene location: 17q21.33 (51260545: 51297932)     Exons: 16     NC_000017.11
• OMIM: 612816

Protein Summary

• Protein general information: Q9Y5J1  
  • Name: U3 small nucleolar RNA associated protein 18 homolog (WD repeat containing protein 50)
  • Length: 556  
  • Mass: 62004
• Sequence:

  MPPERRRRMKLDRRTGAKPKRKPGMRPDWKAGAGPGGPPQKPAPSSQRKPPARPSAAAAAIAVAAAEEERRLRQR
  NRLRLEEDKPAVERCLEELVFGDVENDEDALLRRLRGPRVQEHEDSGDSEVENEAKGNFPPQKKPVWVDEEDEDE
  EMVDMMNNRFRKDMMKNASESKLSKDNLKKRLKEEFQHAMGGVPAWAETTKRKTSSDDESEEDEDDLLQRTGNFI
  STSTSLPRGILKMKNCQHANAERPTVARISSVQFHPGAQIVMVAGLDNAVSLFQVDGKTNPKIQSIYLERFPIFK
  ACFSANGEEVLATSTHSKVLYVYDMLAGKLIPVHQVRGLKEKIVRSFEVSPDGSFLLINGIAGYLHLLAMKTKEL
  IGSMKINGRVAASTFSSDSKKVYASSGDGEVYVWDVNSRKCLNRFVDEGSLYGLSIATSRNGQYVACGSNCGVVN
  IYNQDSCLQETNPKPIKAIMNLVTGVTSLTFNPTTEILAIASEKMKEAVRLVHLPSCTVFSNFPVIKNKNISHVH
  TMDFSPRSGYFALGNEKGKALMYRLHHYSDF

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR019775  IPR017986  IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • STRING: ENSP00000225298
• Other Databases: GeneCards:  UTP18  Malacards:  UTP18

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034388	Pwp2p-containing subcomplex of 90S preribosome	IBA	cellular component
GO:0032040	small-subunit processome	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006364	rRNA processing	IEA	biological process
GO:0006364	rRNA processing	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03008	Ribosome biogenesis in eukaryotes

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)