SNUPN (snurportin 1)

Gene

• Entrez ID: 10073
• Gene name: Snurportin 1
• Gene symbol: SNUPN
• Synonyms (NCBI Gene): KPNBL, LGMDR29, RNUT1, Snurportin1
• Chromosome: 15
• Chromosome location: 15q24.2
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051834	hsa-let-7c-5p	CLASH	23622248
MIRT1376641	hsa-miR-3691-5p	CLIP-seq
MIRT1376642	hsa-miR-4289	CLIP-seq
MIRT1376643	hsa-miR-4699-3p	CLIP-seq
MIRT1376644	hsa-miR-4752	CLIP-seq
MIRT1376645	hsa-miR-520d-5p	CLIP-seq
MIRT1376646	hsa-miR-524-5p	CLIP-seq
MIRT1376647	hsa-miR-600	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000339	Function	RNA cap binding	IEA
GO:0000339	Function	RNA cap binding	TAS	9670026
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	19339969, 19339972, 20972448, 23850451, 26673895
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	38413582
GO:0005643	Component	Nuclear pore	IEA
GO:0005643	Component	Nuclear pore	TAS	9670026
GO:0005654	Component	Nucleoplasm	IDA	9670026
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	NAS	9670026
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006404	Process	RNA import into nucleus	IDA	9670026
GO:0006404	Process	RNA import into nucleus	IMP	38413582
GO:0006606	Process	Protein import into nucleus	IEA
GO:0007010	Process	Cytoskeleton organization	IMP	38413582
GO:0042564	Component	NLS-dependent protein nuclear import complex	IPI	18187419
GO:0051259	Process	Protein complex oligomerization	IMP	38413582
GO:0051262	Process	Protein tetramerization	IMP	38413582
GO:0061015	Process	SnRNA import into nucleus	IEA
GO:0061608	Function	Nuclear import signal receptor activity	IEA

Other IDs

• MIM: 607902
• HGNC: 14245
• e!Ensembl: ENSG00000169371

Protein

• UniProt ID: O95149
• Protein name: Snurportin-1 (RNA U transporter 1)
• Protein function: Functions as an U snRNP-specific nuclear import adapter. Involved in the trimethylguanosine (m3G)-cap-dependent nuclear import of U snRNPs. Binds specifically to the terminal m3G-cap U snRNAs. {ECO:0000269|PubMed:10209022, ECO:0000269|PubMed:159
• PDB: 1XK5, 2P8Q, 2Q5D, 2QNA, 3GB8, 3GJX, 3LWW, 3NBY, 3NBZ, 3NC0, 5DIS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11538	Snurportin1	25 → 64	Snurportin1	Family

• Sequence:

  MEELSQALASSFSVSQDLNSTAAPHPRLSQYKSKYSSLEQSERRRRLLELQKSKRLDYVN
  HARRLAEDDWTGMESEEENKKDDEEMDIDTVKKLPKHYANQLMLSEWLIDVPSDLGQEWI
  VVVCPVGKRALIVASRGSTSAYTKSGYCVNRFSSLLPGGNRRNSTAKDYTILDCIYNEVN
  QTYYVLDVMCWRGHPFYDCQTDFRFYWMHSKLPEEEGLGEKTKLNPFKFVGLKNFPCTPE
  SLCDVLSMDFPFEVDGLLFYHKQTHYSPGSTPLVGWLRPYMVSDVLGVAVPAGPLTTKPD
  YAGHQLQQIMEHKKSQKEGMKEKLTHKASENGHYELEHLSTPKLKGSSHSPDHPGCLMEN
  

• Sequence length: 360

Pathways

KEGG:

Nucleocytoplasmic transport

Reactome:

snRNP Assembly

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SNUPN deficiency muscular dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Epilepsy	Epilepsy	Pubtator	40658715	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	27171439	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30081305		★☆☆☆☆ Found in Text Mining only