Homo sapiens Protein: UBQLN2 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-72603.5 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | UBQLN2 | ||||||||||||||||||||||
Protein Name | ubiquilin 2 | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000345195 | ||||||||||||||||||||||
InnateDB Gene | IDBG-72599 (UBQLN2) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Increases the half-life of proteins destined to be degraded by the proteasome; may modulate proteasome-mediated protein degradation. {ECO:0000269PubMed:10983987}. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm. Nucleus. Note=Where it colocalizes with the proteasome. Associated with fibers in mitotic cells. | ||||||||||||||||||||||
Disease Associations | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) [MIM:300857]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS15 may develop frontotemporal dementia. {ECO:0000269PubMed:21857683, ECO:0000269PubMed:22560112, ECO:0000269PubMed:22717235, ECO:0000269PubMed:22892309}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | |||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 73 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000449
Ubiquitin-associated domain/translation elongation factor EF-Ts, N-terminal IPR000626 Ubiquitin-like IPR006636 Heat shock chaperonin-binding IPR009060 UBA-like IPR015360 XPC-binding domain IPR015940 Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote IPR016024 Armadillo-type fold IPR022617 Rad60/SUMO-like domain IPR029071 Ubiquitin-related domain |
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PFAM |
PF00627
PF00240 PF14560 PF09280 PF11976 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00213
SM00727 SM00165 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q9UHD9 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9UHD9 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 29978 | ||||||||||||||||||||||
UniGene | Hs.522668 | ||||||||||||||||||||||
RefSeq | NP_038472 | ||||||||||||||||||||||
HUGO | HGNC:12509 | ||||||||||||||||||||||
OMIM | 300264 | ||||||||||||||||||||||
CCDS | CCDS14374 | ||||||||||||||||||||||
HPRD | 02224 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB015344 AF189009 AF293385 AL354793 AL442081 BC069237 CH471154 | ||||||||||||||||||||||
GenPept | AAF17237 AAG02474 AAH69237 BAA34801 CAC09446 CAD13519 EAW93233 | ||||||||||||||||||||||