Homo sapiens Protein: UBQLN2
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.
Experimentally validated
Total 73 [view]
Protein-Protein 72 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003684 damaged DNA binding
GO:0005488 binding
GO:0005515 protein binding
Biological Process
GO:0006289 nucleotide-excision repair
GO:0008219 cell death
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
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
PFAM PF00627
PF00240
PF14560
PF09280
PF11976
PRINTS
PIRSF
SMART SM00213
SM00727
SM00165
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