• Gene id: 55813

Gene Summary

• Gene Symbol: UTP6   Gene   UCSC   Ensembl
• Aliases: C17orf40, HCA66
• Gene name: UTP6 small subunit processome component
• Alternate names: U3 small nucleolar RNA-associated protein 6 homolog, UTP6, small subunit (SSU) processome component, homolog, hepatocellular carcinoma-associated antigen 66, multiple hat domains protein,
• Gene location: 17q11.2 (38178244: 38230670)     Exons: 13     NC_000007.14

Protein Summary

• Protein general information: Q9NYH9  
  • Name: U3 small nucleolar RNA associated protein 6 homolog (Hepatocellular carcinoma associated antigen 66) (Multiple hat domains protein)
  • Length: 597  
  • Mass: 70194
• Sequence:

  MAEIIQERIEDRLPELEQLERIGLFSHAEIKAIIKKASDLEYKIQRRTLFKEDFINYVQYEINLLELIQRRRTRI
  GYSFKKDEIENSIVHRVQGVFQRASAKWKDDVQLWLSYVAFCKKWATKTRLSKVFSAMLAIHSNKPALWIMAAKW
  EMEDRLSSESARQLFLRALRFHPECPKLYKEYFRMELMHAEKLRKEKEEFEKASMDVENPDYSEEILKGELAWII
  YKNSVSIIKGAEFHVSLLSIAQLFDFAKDLQKEIYDDLQALHTDDPLTWDYVARRELEIESQTEEQPTTKQAKAV
  EVGRKEERCCAVYEEAVKTLPTEAMWKCYITFCLERFTKKSNSGFLRGKRLERTMTVFRKAHELKLLSECQYKQL
  SVSLLCYNFLREALEVAVAGTELFRDSGTMWQLKLQVLIESKSPDIAMLFEEAFVHLKPQVCLPLWISWAEWSEG
  AKSQEDTEAVFKKALLAVIGADSVTLKNKYLDWAYRSGGYKKARAVFKSLQESRPFSVDFFRKMIQFEKEQESCN
  MANIREYYERALREFGSADSDLWMDYMKEELNHPLGRPENCGQIYWRAMKMLQGESAEAFVAKHAMHQTGHL

• Structural information:
  • Interpro: IPR003107  IPR011990  IPR013949  
  • STRING: ENSP00000261708
• Other Databases: GeneCards:  UTP6  Malacards:  UTP6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034388	Pwp2p-containing subcomplex of 90S preribosome	IBA	cellular component
GO:0030515	snoRNA binding	IBA	molecular function
GO:0000462	maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	biological process
GO:0032040	small-subunit processome	IBA	cellular component
GO:0000462	maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IEA	biological process
GO:0006396	RNA processing	IEA	biological process
GO:0030515	snoRNA binding	IEA	molecular function
GO:0006364	rRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
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:0005730	nucleolus	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03008	Ribosome biogenesis in eukaryotes

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881