Homo sapiens Gene: NUB1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-49516.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | NUB1 | ||||||||||||||||||||||
Gene Name | negative regulator of ubiquitin-like proteins 1 | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Gene | ENSG00000013374 | ||||||||||||||||||||||
Encoded Proteins |
negative regulator of ubiquitin-like proteins 1
negative regulator of ubiquitin-like proteins 1
negative regulator of ubiquitin-like proteins 1
negative regulator of ubiquitin-like proteins 1
negative regulator of ubiquitin-like proteins 1
negative regulator of ubiquitin-like proteins 1
negative regulator of ubiquitin-like proteins 1
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Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
Summary |
This gene encodes a protein that functions as a negative regulator of NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The protein encoded by this gene regulates the NEDD8 conjugation system post-transcriptionally by recruiting NEDD8 and its conjugates to the proteasome for degradation. This protein interacts with the product of the AIPL1 gene, which is associated with Leber congenital amaurosis, an inherited retinopathy, and mutations in that gene can abolish interaction with this protein, which may contribute to the pathogenesis. This protein is also known to accumulate in Lewy bodies in Parkinson's disease and dementia with Lewy bodies, and in glial cytoplasmic inclusions in multiple system atrophy, with this abnormal accumulation being specific to alpha-synucleinopathy lesions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 7:151341699-151378449 | ||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||
Band | q36.1 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 156 experimentally validated interaction(s) in this database.
They are also associated with 1 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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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | C9J7X7 C9JRT6 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 51667 | ||||||||||||||||||||||
UniGene | Hs.647082 Hs.725338 | ||||||||||||||||||||||
RefSeq | NM_001243351 NM_016118 XM_005250010 XM_005250011 | ||||||||||||||||||||||
HUGO | HGNC:17623 | ||||||||||||||||||||||
OMIM | 607981 | ||||||||||||||||||||||
CCDS | CCDS47751 CCDS59089 | ||||||||||||||||||||||
HPRD | 07450 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC005486 | ||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | 51667 | ||||||||||||||||||||||