• Gene id: 10073

Gene Summary

• Gene Symbol: SNUPN   Gene   UCSC   Ensembl
• Aliases: KPNBL, RNUT1, Snurportin1
• Gene name: snurportin 1
• Alternate names: snurportin-1, RNA U transporter 1,
• Gene location: 15q24.2 (75626377: 75598082)     Exons: 11     NC_000015.10
• Gene summary(Entrez): The nuclear import of the spliceosomal snRNPs U1, U2, U4 and U5, is dependent on the presence of a complex nuclear localization signal. The latter is composed of the 5'-2,2,7-terminal trimethylguanosine (m3G) cap structure of the U snRNA and the Sm core d
• OMIM: 607902

Protein Summary

• Protein general information: O95149  
  • Name: Snurportin 1 (RNA U transporter 1)
  • Length: 360  
  • Mass: 41143
• Sequence:

  MEELSQALASSFSVSQDLNSTAAPHPRLSQYKSKYSSLEQSERRRRLLELQKSKRLDYVNHARRLAEDDWTGMES
  EEENKKDDEEMDIDTVKKLPKHYANQLMLSEWLIDVPSDLGQEWIVVVCPVGKRALIVASRGSTSAYTKSGYCVN
  RFSSLLPGGNRRNSTAKDYTILDCIYNEVNQTYYVLDVMCWRGHPFYDCQTDFRFYWMHSKLPEEEGLGEKTKLN
  PFKFVGLKNFPCTPESLCDVLSMDFPFEVDGLLFYHKQTHYSPGSTPLVGWLRPYMVSDVLGVAVPAGPLTTKPD
  YAGHQLQQIMEHKKSQKEGMKEKLTHKASENGHYELEHLSTPKLKGSSHSPDHPGCLMEN

• Structural information:
  • Protein Domains: (11..7-)
    (/note="IBB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00561"-)
  • Interpro: IPR002652  IPR017336  IPR024721  
  • Prosite: PS51214
  • PDB: 1XK5 2P8Q 2Q5D 2QNA 3GB8 3GJX 3LWW 3NBY 3NBZ 3NC0 5DIS
  • PDBsum: 1XK5 2P8Q 2Q5D 2QNA 3GB8 3GJX 3LWW 3NBY 3NBZ 3NC0 5DIS
  • DIP: 48513
  • STRING: ENSP00000454852
• Other Databases: GeneCards:  SNUPN  Malacards:  SNUPN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061015	snRNA import into nucleus	IEA	biological process
GO:0061608	nuclear import signal receptor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006606	protein import into nucleus	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000339	RNA cap binding	TAS	molecular function
GO:0005643	nuclear pore	TAS	cellular component
GO:0051170	import into nucleus	TAS	biological process
GO:0000387	spliceosomal snRNP assembly	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	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:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport

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)