Identity
HGNC
LOCATION
15q24.2
LOCUSID
ALIAS
KPNBL,RNUT1,Snurportin1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10073
MIM: 607902
HGNC: 14245
Ensembl: ENSG00000169371
Variants:
dbSNP: 10073
ClinVar: 10073
TCGA: ENSG00000169371
COSMIC: SNUPN
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| RNA transport | KEGG | ko03013 |
| RNA transport | KEGG | hsa03013 |
| Gene Expression | REACTOME | R-HSA-74160 |
| Metabolism of non-coding RNA | REACTOME | R-HSA-194441 |
| snRNP Assembly | REACTOME | R-HSA-191859 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38413582 | 2024 | SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. | 1 |
| 38413582 | 2024 | SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. | 1 |
| 26866982 | 2016 | Filtering genetic variants and placing informative priors based on putative biological function. | 3 |
| 26866982 | 2016 | Filtering genetic variants and placing informative priors based on putative biological function. | 3 |
| 24722547 | 2014 | The interaction of CRM1 and the nuclear pore protein Tpr. | 10 |
| 24722547 | 2014 | The interaction of CRM1 and the nuclear pore protein Tpr. | 10 |
| 19389996 | 2009 | Crystal structure of the nuclear export receptor CRM1 in complex with Snurportin1 and RanGTP. | 121 |
| 19619473 | 2009 | Molecular determinants of snurportin 1 ligand affinity and structural response upon binding. | 2 |
| 19389996 | 2009 | Crystal structure of the nuclear export receptor CRM1 in complex with Snurportin1 and RanGTP. | 121 |
| 19619473 | 2009 | Molecular determinants of snurportin 1 ligand affinity and structural response upon binding. | 2 |
| 16030253 | 2005 | Cross-talk between snurportin1 subdomains. | 19 |
| 16030253 | 2005 | Cross-talk between snurportin1 subdomains. | 19 |
| 12095920 | 2002 | SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta. | 53 |
| 12095920 | 2002 | SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta. | 53 |
Citation
Dessen P
SNUPN (snurportin 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74044/snupn-(snurportin-1)
