• Gene id: 10713

Gene Summary

• Gene Symbol: USP39   Gene   UCSC   Ensembl
• Aliases: 65K, CGI-21, HSPC332, SAD1, SNRNP65
• Gene name: ubiquitin specific peptidase 39
• Alternate names: U4/U6.U5 tri-snRNP-associated protein 2, SAD1 homolog, SnRNP assembly defective 1 homolog, U4/U6.U5 tri-snRNP-associated 65 kDa protein, inactive ubiquitin-specific peptidase 39, small nuclear ribonucleoprotein 65kDa (U4/U6.U5), ubiquitin specific protease 39,
• Gene location: 2p11.2 (85602842: 85649283)     Exons: 16     NC_000002.12
• OMIM: 611594

Protein Summary

• Protein general information: Q53GS9  
  • Name: U4/U6.U5 tri snRNP associated protein 2 (Inactive ubiquitin specific peptidase 39) (SAD1 homolog) (U4/U6.U5 tri snRNP associated 65 kDa protein) (65K)
  • Length: 565  
  • Mass: 65381
• Sequence:

  MSGRSKRESRGSTRGKRESESRGSSGRVKRERDREREPEAASSRGSPVRVKREFEPASAREAPASVVPFVRVKRE
  REVDEDSEPEREVRAKNGRVDSEDRRSRHCPYLDTINRSVLDFDFEKLCSISLSHINAYACLVCGKYFQGRGLKS
  HAYIHSVQFSHHVFLNLHTLKFYCLPDNYEIIDSSLEDITYVLKPTFTKQQIANLDKQAKLSRAYDGTTYLPGIV
  GLNNIKANDYANAVLQALSNVPPLRNYFLEEDNYKNIKRPPGDIMFLLVQRFGELMRKLWNPRNFKAHVSPHEML
  QAVVLCSKKTFQITKQGDGVDFLSWFLNALHSALGGTKKKKKTIVTDVFQGSMRIFTKKLPHPDLPAEEKEQLLH
  NDEYQETMVESTFMYLTLDLPTAPLYKDEKEQLIIPQVPLFNILAKFNGITEKEYKTYKENFLKRFQLTKLPPYL
  IFCIKRFTKNNFFVEKNPTIVNFPITNVDLREYLSEEVQAVHKNTTYDLIANIVHDGKPSEGSYRIHVLHHGTGK
  WYELQDLQVTDILPQMITLSEAYIQIWKRRDNDETNQQGA

• Structural information:
  • Protein Domains: (225..55-)
    (/note="USP"-)
  • Interpro: IPR038765  IPR001394  IPR033809  IPR028889  IPR013083   IPR001607  
  • Prosite: PS50235 PS50271
  • CDD: cd02669
  • PDB: 3JCR 6AH0 6QW6 6QX9
  • PDBsum: 3JCR 6AH0 6QW6 6QX9
  • STRING: ENSP00000312981
• Other Databases: GeneCards:  USP39  Malacards:  USP39

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0046540	U4/U6 x U5 tri-snRNP complex	IDA	cellular component
GO:0046540	U4/U6 x U5 tri-snRNP complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000245	spliceosomal complex assembly	IMP	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0000245	spliceosomal complex assembly	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0016579	protein deubiquitination	IEA	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	TAS	biological process
GO:0000245	spliceosomal complex assembly	TAS	biological process
GO:0008380	RNA splicing	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
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:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

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			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