Human Gene NUB1 (ENST00000413040.7) from GENCODE V44
Description: Homo sapiens negative regulator of ubiquitin like proteins 1 (NUB1), transcript variant 2, mRNA. (from RefSeq NM_016118) RefSeq Summary (NM_016118): 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]. Gencode Transcript: ENST00000413040.7 Gencode Gene: ENSG00000013374.17 Transcript (Including UTRs) Position: hg38 chr7:151,341,772-151,378,449 Size: 36,678 Total Exon Count: 15 Strand: + Coding Region Position: hg38 chr7:151,345,350-151,377,225 Size: 31,876 Coding Exon Count: 14
ID:NUB1_HUMAN DESCRIPTION: RecName: Full=NEDD8 ultimate buster 1; AltName: Full=Negative regulator of ubiquitin-like proteins 1; AltName: Full=Renal carcinoma antigen NY-REN-18; FUNCTION: Specific down-regulator of the NEDD8 conjugation system. Recruits NEDD8, UBD, and their conjugates to the proteasome for degradation. Isoform 1 promotes the degradation of NEDD8 more efficiently than isoform 2. SUBUNIT: Directly interacts with NEDD8 and PSMD4/S5a, a member of the regulatory subunit of the 26S proteasome. Isoform 1 binds to NEDD8 more efficiently than isoform 2. Interacts with AIPL1. The interaction with UBD via UBA domains facilitates the linking of UBD-conjugated target protein to the proteasome complex and accelerates UBD degradation and that of its conjugates. SUBCELLULAR LOCATION: Nucleus. Note=Predominantly nuclear. TISSUE SPECIFICITY: Widely expressed with lowest expression in the pancreas for isoform 1 and in leukocytes, liver, prostate and skeletal muscle for isoform 2. INDUCTION: By TNF, IFNG/IFN-gamma and IFNB1/IFN-beta. SIMILARITY: Contains 3 UBA domains. SEQUENCE CAUTION: Sequence=AAD42865.1; Type=Frameshift; Positions=365, 393;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9Y5A7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006511 ubiquitin-dependent protein catabolic process GO:0016567 protein ubiquitination GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0034341 response to interferon-gamma GO:0034612 response to tumor necrosis factor GO:0043687 post-translational protein modification