InnateDB Protein
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IDBP-63780.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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NUP62
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Protein Name
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nucleoporin 62kDa
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Synonyms
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IBSN; p62; SNDI;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000305503
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InnateDB Gene
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IDBG-246910 (NUP62)
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Protein Structure
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Function |
Essential component of the nuclear pore complex. The N- terminal is probably involved in nucleocytoplasmic transport. The C-terminal is probably involved in protein-protein interaction via coiled-coil formation and may function in anchorage of p62 to the pore complex.
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Subcellular Localization |
Nucleus, nuclear pore complex. Cytoplasm, cytoskeleton, spindle pole. Note=Central region of the nuclear pore, within the transporter. During mitotic cell division, it associates with the poles of the mitotic spindle.
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Disease Associations |
Infantile striatonigral degeneration (SNDI) [MIM:271930]: Neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation. {ECO:0000269PubMed:16786527}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 81 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
81
[view]
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Protein-Protein |
77
[view]
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Protein-DNA |
4
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR007758
Nucleoporin, NSP1-like, C-terminal
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PFAM |
PF05064
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P37198
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PhosphoSite |
PhosphoSite-P37198
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TrEMBL |
M0R302
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UniProt Splice Variant |
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Entrez Gene |
23636
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UniGene |
Hs.733386
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RefSeq |
NP_057637
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HUGO |
HGNC:8066
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OMIM |
605815
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CCDS |
CCDS12788
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HPRD |
05782
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IMGT |
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EMBL |
AC011452
AK125857
AL162061
BC003663
BC014842
BC050717
BC095410
BC101104
BC101105
BC101106
BC101107
CH471177
CR541721
X58521
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GenPept |
AAH03663
AAH14842
AAH50717
AAH95410
AAI01105
AAI01106
AAI01107
AAI01108
BAG54257
CAA41411
CAB82399
CAG46522
EAW52576
EAW52577
EAW52578
EAW52579
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