NUP205 Gene Summary [Human]
This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]
Details
| Type | Protein Coding |
| Official Symbol | NUP205 |
| Official Name | nucleoporin 205 [Source:HGNC Symbol;Acc:HGNC:18658] |
| Ensembl ID | ENSG00000155561 |
| Bio databases IDs | |
| Aliases | nucleoporin 205, nuclear pore complex protein Nup205 |
| Synonyms | 3830404O05Rik, C7ORF14, KIAA0225, mKIAA0225, NPHS13, nucleoporin 205, Nucleoporin Nup205, Riken cDNA 3830404o05, Similar to CG11943 gene product |
| 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 NUP205 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- structural constituent of nuclear pore
- protein binding
- Nuclear pore complex scaffold, nucleoporins 186/192/205
Pathways
Biological processes and signaling networks where the NUP205 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- mucopolysaccharidosis, MPS-IV-A
- nephrotic syndrome type 13
- steroid-resistant nephrotic syndrome
- venous thromboembolism
role in cell
- replication in
- expression in
- cell death
- survival
- maintenance
- assembly
- interaction in
- proliferative capacity
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
- interchromatin granule cluster fractions
- cytosol
- nuclear pores
- inner nuclear membrane
- nuclear envelope
- chromatin
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NUP205 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- nucleocytoplasmic transport
- nuclear pore organization
- protein transport
- nuclear pore complex assembly
- mRNA transport
Cellular Component
Where in the cell the gene product is active
- nuclear envelope
- nuclear membrane
- membrane
- cytosol
- nuclear periphery
- nuclear pore
Molecular Function
What the gene product does at the molecular level
- protein binding
- structural constituent of nuclear pore