NUP50 (nucleoporin 50)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 10762 |
| Gene name | Nucleoporin 50 |
| Gene symbol | NUP50 |
| Synonyms (NCBI Gene) |
NPAP60NPAP60L
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| Chromosome | 22 |
| Chromosome location | 22q13.31 |
| Summary | The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex i |
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miRNA
miRNA information provided by mirtarbase database.
1288
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Show/Hide all (16) |
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9UKX7 | |||||||||||||||
| Protein name | Nuclear pore complex protein Nup50 (50 kDa nucleoporin) (Nuclear pore-associated protein 60 kDa-like) (Nucleoporin Nup50) | |||||||||||||||
| Protein function | Component of the nuclear pore complex that has a direct role in nuclear protein import (PubMed:20016008). Actively displaces NLSs from importin-alpha, and facilitates disassembly of the importin-alpha:beta-cargo complex and importin recycling (P | |||||||||||||||
| PDB | 2EC1 , 3TJ3 , 7MO0 | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Ubiquitous. Highest levels in testis, peripheral blood leukocytes and fetal liver. | |||||||||||||||
| Sequence |
MAKRNAEKELTDRNWDQEDEAEEVGTFSMASEEVLKNRAIKKAKRRNVGFESDTGGAFKG |
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| Sequence length | 468 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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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)
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Related Genes
Genes most often co-reported with NUP50 across shared curated disease and pathway associations.
5
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Sort by:
NUP42
27 shared pathwaysNucleocytoplasmic transport, Regulation of HSF1-mediated heat shock response, HCMV Late Events, SUMOylation of DNA damage response and repair proteins, SUMOylation of chromatin organization proteins, SUMOylation of RNA binding proteins, snRNP Assembly, HCMV Early Events, Transport of the SLBP independent Mature mRNA, Transport of the SLBP Dependant Mature mRNA, Transport of Mature mRNA Derived from an Intronless Transcript, Transport of Mature mRNA derived from an Intron-Containing Transcript +15 more
Related via 27 shared pathways including Nucleocytoplasmic transport, Regulation of HSF1-mediated heat shock response.
NUP210
27 shared pathwaysNucleocytoplasmic transport, Regulation of HSF1-mediated heat shock response, HCMV Late Events, SUMOylation of DNA damage response and repair proteins, SUMOylation of chromatin organization proteins, SUMOylation of RNA binding proteins, snRNP Assembly, HCMV Early Events, Transport of the SLBP independent Mature mRNA, Transport of the SLBP Dependant Mature mRNA, Transport of Mature mRNA Derived from an Intronless Transcript, Transport of Mature mRNA derived from an Intron-Containing Transcript +15 more
Related via 27 shared pathways including Nucleocytoplasmic transport, Regulation of HSF1-mediated heat shock response.
NUP62
27 shared pathwaysNucleocytoplasmic transport, Regulation of HSF1-mediated heat shock response, HCMV Late Events, SUMOylation of DNA damage response and repair proteins, SUMOylation of chromatin organization proteins, SUMOylation of RNA binding proteins, snRNP Assembly, HCMV Early Events, Transport of the SLBP independent Mature mRNA, Transport of the SLBP Dependant Mature mRNA, Transport of Mature mRNA Derived from an Intronless Transcript, Transport of Mature mRNA derived from an Intron-Containing Transcript +15 more
Related via 27 shared pathways including Nucleocytoplasmic transport, Regulation of HSF1-mediated heat shock response.
NUP88
27 shared pathwaysNucleocytoplasmic transport, Regulation of HSF1-mediated heat shock response, HCMV Late Events, SUMOylation of DNA damage response and repair proteins, SUMOylation of chromatin organization proteins, SUMOylation of RNA binding proteins, snRNP Assembly, HCMV Early Events, Transport of the SLBP independent Mature mRNA, Transport of the SLBP Dependant Mature mRNA, Transport of Mature mRNA Derived from an Intronless Transcript, Transport of Mature mRNA derived from an Intron-Containing Transcript +15 more
Related via 27 shared pathways including Nucleocytoplasmic transport, Regulation of HSF1-mediated heat shock response.
NUP54
27 shared pathwaysNucleocytoplasmic transport, Regulation of HSF1-mediated heat shock response, HCMV Late Events, SUMOylation of DNA damage response and repair proteins, SUMOylation of chromatin organization proteins, SUMOylation of RNA binding proteins, snRNP Assembly, HCMV Early Events, Transport of the SLBP independent Mature mRNA, Transport of the SLBP Dependant Mature mRNA, Transport of Mature mRNA Derived from an Intronless Transcript, Transport of Mature mRNA derived from an Intron-Containing Transcript +15 more
Related via 27 shared pathways including Nucleocytoplasmic transport, Regulation of HSF1-mediated heat shock response.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to NUP50 (see Related Genes above), that are NOT already directly curated for NUP50 itself -- a lead worth checking, not a confirmed association.
5
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Diabetes mellitus type 2
Linked via 3 of 5 related genesNUP210, NUP88, NUP54
Metabolic syndrome
Linked via 2 of 5 related genesNUP88, NUP54
Obstructive pulmonary disease
Linked via 1 of 5 related genesNUP42
Conotruncal cardiac defect
Linked via 1 of 5 related genesNUP210
Coronary artery disease
Linked via 1 of 5 related genesNUP210
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