• Gene id: 84916

Gene Summary

• Gene Symbol: UTP4   Gene   UCSC   Ensembl
• Aliases: CIRH1A, CIRHIN, NAIC, TEX292
• Gene name: UTP4 small subunit processome component
• Alternate names: U3 small nucleolar RNA-associated protein 4 homolog, UTP4 small subunit (SSU) processome component, UTP4, small subunit (SSU) processome component, homolog, cirrhosis, autosomal recessive 1A (cirhin), testis expressed gene 292,
• Gene location: 16q22.1 (69132595: 69169033)     Exons: 18     NC_000016.10
• Gene summary(Entrez): This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to
• OMIM: 607456

Protein Summary

• Protein general information: Q969X6  
  • Name: U3 small nucleolar RNA associated protein 4 homolog (Cirhin) (UTP4 small subunit processome component)
  • Length: 686  
  • Mass: 76890
• Sequence:

  MGEFKVHRVRFFNYVPSGIRCVAYNNQSNRLAVSRTDGTVEIYNLSANYFQEKFFPGHESRATEALCWAEGQRLF
  SAGLNGEIMEYDLQALNIKYAMDAFGGPIWSMAASPSGSQLLVGCEDGSVKLFQITPDKIQFERNFDRQKSRILS
  LSWHPSGTHIAAGSIDYISVFDVKSGSAVHKMIVDRQYMGVSKRKCIVWGVAFLSDGTIISVDSAGKVQFWDSAT
  GTLVKSHLIANADVQSIAVADQEDSFVVGTAEGTVFHFQLVPVTSNSSEKQWVRTKPFQHHTHDVRTVAHSPTAL
  ISGGTDTHLVFRPLMEKVEVKNYDAALRKITFPHRCLISCSKKRQLLLFQFAHHLELWRLGSTVATGKNGDTLPL
  SKNADHLLHLKTKGPENIICSCISPCGSWIAYSTVSRFFLYRLNYEHDNISLKRVSKMPAFLRSALQILFSEDST
  KLFVASNQGALHIVQLSGGSFKHLHAFQPQSGTVEAMCLLAVSPDGNWLAASGTSAGVHVYNVKQLKLHCTVPAY
  NFPVTAMAIAPNTNNLVIAHSDQQVFEYSIPDKQYTDWSRTVQKQGFHHLWLQRDTPITHISFHPKRPMHILLHD
  AYMFCIIDKSLPLPNDKTLLYNPFPPTNESDVIRRRTAHAFKISKIYKPLLFMDLLDERTLVAVERPLDDIIAQL
  PPPIKKKKFGT

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR017986  IPR036322  
  • Prosite: PS50294
  • STRING: ENSP00000327179
• Other Databases: GeneCards:  UTP4  Malacards:  UTP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000462	maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	biological process
GO:0034455	t-UTP complex	IBA	cellular component
GO:0032040	small-subunit processome	IBA	cellular component
GO:0030686	90S preribosome	IBA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005694	chromosome	IDA	cellular component
GO:0034455	t-UTP complex	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030490	maturation of SSU-rRNA	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03008	Ribosome biogenesis in eukaryotes

Diseases

Associated diseases	References
North American Indian childhood cirrhosis	KEGG:H02194
North American Indian childhood cirrhosis	KEGG:H02194
Primary biliary cirrhosis	PMID:12417987
Cholestasis	PMID:12417987
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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881