SNUPN Gene Summary [Human]
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 domain. The protein encoded by this gene interacts specifically with m3G-cap and functions as an snRNP-specific nuclear import receptor. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SNUPN |
| Official Name | snurportin 1 [Source:HGNC Symbol;Acc:HGNC:14245] |
| Ensembl ID | ENSG00000169371 |
| Bio databases IDs | |
| Aliases | snurportin 1 |
| Synonyms | 0610031A09Rik, KPNBL, LGMDR29, RNUT1, Snupn1, Snurportin1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SNUPN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Adenylation domain of proteins similar to ATP-dependent polynucleotide ligases
- RNA cap binding
- Snurportin1
- importin beta binding domain
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- osteoarthritis
- autosomal recessive limb-girdle muscular dystrophy 29
regulates
- MAPK4
- U1 snRNP
- U5 snRNP
role in cell
- organization
- premature senescence
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- perinuclear region
- Plasma Membrane
- cytosol
- nuclear pores
- nucleoplasm
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SNUPN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- RNA import into nucleus
- snRNA import into nucleus
- protein import into nucleus
Cellular Component
Where in the cell the gene product is active
- cytosol
- NLS-dependent protein nuclear import complex
- plasma membrane
- nucleoplasm
- nuclear pore
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA cap binding