• Gene id: 79650

Gene Summary

• Gene Symbol: USB1   Gene   UCSC   Ensembl
• Aliases: C16orf57, HVSL1, Mpn1, PN, hUsb1
• Gene name: U6 snRNA biogenesis phosphodiesterase 1
• Alternate names: U6 snRNA phosphodiesterase, HVSL motif containing 1, U six biogenesis 1, U6 snRNA biogenesis 1, UPF0406 protein C16orf57, mutated in poikiloderma with neutropenia protein 1, putative U6 snRNA phosphodiesterase,
• Gene location: 16q21 (57999602: 58021617)     Exons: 9     NC_000016.10
• Gene summary(Entrez): This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused
• OMIM: 608199

Protein Summary

• Protein general information: Q9BQ65  
  • Name: U6 snRNA phosphodiesterase (hUsb1) (EC 3.1.4. )
  • Length: 265  
  • Mass: 30268
• Sequence:

  MSAAPLVGYSSSGSEDESEDGMRTRPGDGSHRRGQSPLPRQRFPVPDSVLNMFPGTEEGPEDDSTKHGGRVRTFP
  HERGNWATHVYVPYEAKEEFLDLLDVLLPHAQTYVPRLVRMKVFHLSLSQSVVLRHHWILPFVQALKARMTSFHR
  FFFTANQVKIYTNQEKTRTFIGLEVTSGHAQFLDLVSEVDRVMEEFNLTTFYQDPSFHLSLAWCVGDARLQLEGQ
  CLQELQAIVDGFEDAEVLLRVHTEQVRCKSGNKFFSMPLK

• Structural information:
  • Interpro: IPR027521  
  • PDB: 4H7W 5V1M 6D2Z 6D30 6D31
  • PDBsum: 4H7W 5V1M 6D2Z 6D30 6D31
  • STRING: ENSP00000219281
• Other Databases: GeneCards:  USB1  Malacards:  USB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034477	U6 snRNA 3'-end processing	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000175	3'-5'-exoribonuclease activity	IBA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0000175	3'-5'-exoribonuclease activity	IDA	molecular function
GO:0034477	U6 snRNA 3'-end processing	IMP	biological process
GO:0008380	RNA splicing	IMP	biological process
GO:0004518	nuclease activity	IEA	molecular function
GO:0034477	U6 snRNA 3'-end processing	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0045171	intercellular bridge	IDA	cellular component
GO:0034477	U6 snRNA 3'-end processing	IEA	biological process
GO:1990838	poly(U)-specific exoribonuclease activity, producing 3' uridine cyclic phosphate ends	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000175	3'-5'-exoribonuclease activity	IEA	molecular function
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic	IEA	biological process
GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic	IEA	biological process
GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic	IEA	biological process
GO:0034477	U6 snRNA 3'-end processing	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000175	3'-5'-exoribonuclease activity	IBA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0000175	3'-5'-exoribonuclease activity	IDA	molecular function
GO:0034477	U6 snRNA 3'-end processing	IMP	biological process
GO:0008380	RNA splicing	IMP	biological process
GO:0004518	nuclease activity	IEA	molecular function
GO:0034477	U6 snRNA 3'-end processing	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0045171	intercellular bridge	IDA	cellular component
GO:0034477	U6 snRNA 3'-end processing	IEA	biological process
GO:1990838	poly(U)-specific exoribonuclease activity, producing 3' uridine cyclic phosphate ends	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000175	3'-5'-exoribonuclease activity	IEA	molecular function
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic	IEA	biological process
GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic	IEA	biological process
GO:0090503	RNA phosphodiester bond hydrolysis, exonucleolytic	IEA	biological process

Diseases

Associated diseases	References
Poikiloderma with neutropenia	KEGG:H00793
Poikiloderma with neutropenia	KEGG:H00793
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq